Variant report

Variant	nsv915644
Chromosome Location	chr1:45282802-45696079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5869)
CpG islands
(count:4332)
Chromatin interactive
region (count:527)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:5869 , 50 per page) page: 1 2 3 4 5 6 7 ... 118

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:45285061-45286000	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:45412447-45412972	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:45477576-45478726	K562	blood:	n/a	n/a
4	ARID3A	chr1:45503170-45503605	K562	blood:	n/a	n/a
5	ARID3A	chr1:45504804-45504866	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:45284987-45286048	K562	blood:	n/a	n/a
7	ARID3A	chr1:45574541-45574670	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:45569325-45569661	HepG2	liver:	n/a	n/a
9	ARID3A	chr1:45436007-45436055	K562	blood:	n/a	n/a
10	ARID3A	chr1:45321480-45321754	HepG2	liver:	n/a	n/a
11	ARID3A	chr1:45637575-45638534	HepG2	liver:	n/a	n/a
12	ARID3A	chr1:45671868-45672047	HepG2	liver:	n/a	n/a
13	ARID3A	chr1:45452136-45452589	K562	blood:	n/a	n/a
14	ARID3A	chr1:45480199-45480446	HepG2	liver:	n/a	n/a
15	ARID3A	chr1:45414782-45415414	HepG2	liver:	n/a	n/a
16	ARID3A	chr1:45452131-45452488	HepG2	liver:	n/a	n/a
17	ARID3A	chr1:45504649-45505029	K562	blood:	n/a	n/a
18	ARID3A	chr1:45479891-45479946	K562	blood:	n/a	n/a
19	ARID3A	chr1:45476969-45477374	K562	blood:	n/a	n/a
20	ARID3A	chr1:45293130-45293212	HepG2	liver:	n/a	n/a
21	ARID3A	chr1:45301481-45301902	K562	blood:	n/a	n/a
22	ARID3A	chr1:45501365-45501700	K562	blood:	n/a	n/a
23	ARID3A	chr1:45600043-45600639	HepG2	liver:	n/a	n/a
24	ARID3A	chr1:45484434-45484620	HepG2	liver:	n/a	n/a
25	ARID3A	chr1:45656955-45657137	K562	blood:	n/a	n/a
26	ARID3A	chr1:45673894-45673955	HepG2	liver:	n/a	n/a
27	ARID3A	chr1:45477000-45477997	HepG2	liver:	n/a	n/a
28	ARID3A	chr1:45460199-45460431	HepG2	liver:	n/a	n/a
29	ATF1	chr1:45656276-45656476	K562	blood:	n/a	n/a
30	ATF1	chr1:45452100-45452567	K562	blood:	n/a	n/a
31	ATF1	chr1:45478297-45478733	K562	blood:	n/a	n/a
32	ATF1	chr1:45637795-45637961	K562	blood:	n/a	n/a
33	ATF1	chr1:45301553-45301906	K562	blood:	n/a	n/a
34	ATF1	chr1:45503206-45503553	K562	blood:	n/a	n/a
35	ATF1	chr1:45501318-45501749	K562	blood:	n/a	n/a
36	ATF1	chr1:45477485-45478050	K562	blood:	n/a	n/a
37	ATF1	chr1:45504683-45504980	K562	blood:	n/a	n/a
38	ATF1	chr1:45656858-45657167	K562	blood:	n/a	n/a
39	ATF1	chr1:45390860-45391059	K562	blood:	n/a	n/a
40	ATF2	chr1:45477412-45478011	H1-hESC	embryonic stem cell:	n/a	n/a
41	ATF2	chr1:45452105-45452622	H1-hESC	embryonic stem cell:	n/a	n/a
42	ATF2	chr1:45284893-45286185	H1-hESC	embryonic stem cell:	n/a	n/a
43	ATF2	chr1:45301468-45301936	H1-hESC	embryonic stem cell:	n/a	n/a
44	ATF2	chr1:45284854-45286226	GM12878	blood:	n/a	n/a
45	ATF2	chr1:45477591-45477996	GM12878	blood:	n/a	n/a
46	ATF2	chr1:45451925-45452539	H1-hESC	embryonic stem cell:	n/a	n/a
47	ATF2	chr1:45476763-45477171	GM12878	blood:	n/a	n/a
48	ATF2	chr1:45477498-45478145	GM12878	blood:	n/a	n/a
49	ATF2	chr1:45451998-45452561	GM12878	blood:	n/a	n/a
50	ATF2	chr1:45285062-45285930	H1-hESC	embryonic stem cell:	n/a	n/a

(count:4332 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:45672616-45672666	U87	brain:	n/a
2	chr1:45672616-45672666	U87	brain:	n/a
3	chr1:45413279-45413329	NHBE	bronchial:	n/a
4	chr1:45413279-45413329	T-47D	breast:	n/a
5	chr1:45308298-45308348	SAEC	small airway:	n/a
6	chr1:45572163-45572213	H1-hESC	embryonic stem cell:	embryo
7	chr1:45672848-45672898	MCF10A-Er-Src	breast:	n/a
8	chr1:45454424-45454474	SK-N-SH_RA	brain:	n/a
9	chr1:45483851-45483901	GM12892	blood:	n/a
10	chr1:45452240-45452290	HL-60	blood:	n/a
11	chr1:45476986-45477036	AG04450	lung:	fetal
12	chr1:45452605-45452655	ProgFib	skin:	n/a
13	chr1:45477636-45477686	HMEC	breast:	n/a
14	chr1:45476701-45476751	GM12891	blood:	n/a
15	chr1:45451736-45451786	HUVEC	blood vessel:	n/a
16	chr1:45477811-45477861	GM12878	blood:	n/a
17	chr1:45583723-45583773	MCF-7	breast:	n/a
18	chr1:45452319-45452369	SK-N-MC	brain:	n/a
19	chr1:45313025-45313075	Hela-S3	cervix:	n/a
20	chr1:45454343-45454393	GM19239	blood:	n/a
21	chr1:45671361-45671411	HepG2	liver:	n/a
22	chr1:45309425-45309475	HUVEC	blood vessel:	n/a
23	chr1:45671987-45672037	AG10803	skin:	n/a
24	chr1:45308625-45308675	GM12892	blood:	n/a
25	chr1:45313025-45313075	GM06990	blood:	n/a
26	chr1:45452580-45452630	GM12892	blood:	n/a
27	chr1:45672438-45672488	NHDF-neo	bronchial:	n/a
28	chr1:45449830-45449880	GM06990	blood:	n/a
29	chr1:45285892-45285942	HNPCEpiC	eye:	n/a
30	chr1:45469127-45469177	Hela-S3	cervix:	n/a
31	chr1:45674993-45675043	AG09309	skin:	n/a
32	chr1:45304915-45304965	HAEpiC	amniotic membrane:	n/a
33	chr1:45453003-45453053	HepG2	liver:	n/a
34	chr1:45452605-45452655	HUVEC	blood vessel:	n/a
35	chr1:45454343-45454393	PFSK-1	brain:	n/a
36	chr1:45476990-45477040	SK-N-SH	brain:	n/a
37	chr1:45451992-45452042	HEK293	kidney:	embryo
38	chr1:45672405-45672455	PFSK-1	brain:	n/a
39	chr1:45313025-45313075	PFSK-1	brain:	n/a
40	chr1:45309379-45309429	Caco-2	colon:	n/a
41	chr1:45670624-45670674	NH-A	brain:	n/a
42	chr1:45316356-45316406	ProgFib	skin:	n/a
43	chr1:45476701-45476751	LNCaP	prostate:	n/a
44	chr1:45477801-45477851	A549	lung:	n/a
45	chr1:45316356-45316406	AG10803	skin:	n/a
46	chr1:45316356-45316406	AoSMC	blood vessel:	n/a
47	chr1:45671659-45671709	U87	brain:	n/a
48	chr1:45473666-45473716	HCF	heart:	n/a
49	chr1:45292204-45292254	K562	blood:	n/a
50	chr1:45316356-45316406	HNPCEpiC	eye:	n/a

(count:527 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Distal block	Cell Line	Cell type
1	chr1:45295426..45297574-chr1:45452009..45454083,2	MCF-7	breast:
2	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
3	chr1:45179633..45191596-chr1:45283435..45288613,20	MCF-7	breast:
4	chr1:45285072..45285987-chr11:74660109..74660681,2	HCT-116	colon:
5	chr1:45186233..45187885-chr1:45472421..45474659,2	K562	blood:
6	chr1:45185795..45187646-chr1:45502768..45506079,3	K562	blood:
7	chr1:45524312..45527029-chr1:45527867..45530740,2	K562	blood:
8	chr1:45503364..45509535-chr1:45510898..45517046,6	K562	blood:
9	chr1:45284681..45289780-chr1:45466475..45469909,5	MCF-7	breast:
10	chr1:45683089..45683589-chr19:7514711..7515279,2	K562	blood:
11	chr1:45240606..45242978-chr1:45452437..45454075,2	K562	blood:
12	chr1:45636963..45639172-chr1:45642101..45643985,2	K562	blood:
13	chr1:45476938..45479048-chr1:45623410..45625753,2	K562	blood:
14	chr1:45194490..45196037-chr1:45552131..45554366,2	K562	blood:
15	chr1:45665341..45668545-chr1:45669505..45672315,3	MCF-7	breast:
16	chr1:45483202..45484788-chr1:45677331..45680052,2	K562	blood:
17	chr1:45281654..45283302-chr1:45765117..45767703,2	K562	blood:
18	chr1:45477548..45478355-chr1:144533708..144534378,3	Hela-S3	cervix:
19	chr1:45475929..45480621-chr1:45481195..45486078,6	MCF-7	breast:
20	chr1:45284059..45286396-chr1:45450000..45452623,4	MCF-7	breast:
21	chr1:45444590..45447316-chr1:45478691..45480340,2	K562	blood:
22	chr1:45451641..45453252-chr1:45669605..45671686,2	MCF-7	breast:
23	chr1:45320854..45325026-chr1:45326451..45330939,4	K562	blood:
24	chr1:45373631..45375252-chr1:45404854..45407094,2	K562	blood:
25	chr1:45186219..45188640-chr1:45288842..45291625,2	MCF-7	breast:
26	chr1:45186384..45188891-chr1:45454101..45455749,3	K562	blood:
27	chr1:45658355..45660758-chr1:45665576..45668120,2	MCF-7	breast:
28	chr1:45478814..45481522-chr1:45521104..45523443,2	K562	blood:
29	chr1:45210546..45213904-chr1:45284220..45286382,3	K562	blood:
30	chr1:45466176..45467776-chr1:45467983..45470171,2	MCF-7	breast:
31	chr1:45464897..45467807-chr1:46048643..46051283,4	K562	blood:
32	chr1:45315991..45318132-chr1:45331699..45334400,2	K562	blood:
33	chr1:45428206..45430987-chr1:45432704..45434653,2	K562	blood:
34	chr1:45096122..45099489-chr1:45284877..45287072,3	K562	blood:
35	chr1:45285566..45287253-chr15:75197624..75199346,2	MCF-7	breast:
36	chr1:45521218..45524154-chr1:45525277..45526789,2	K562	blood:
37	chr1:45284350..45286561-chr17:56735518..56737664,2	K562	blood:
38	chr1:45412341..45415301-chr1:45476902..45478452,2	K562	blood:
39	chr1:45239617..45241510-chr1:45476171..45478089,2	MCF-7	breast:
40	chr1:45184334..45189289-chr1:45475449..45480431,12	K562	blood:
41	chr1:45252618..45255680-chr1:45481014..45484053,3	K562	blood:
42	chr1:45282917..45288387-chr1:45449365..45456835,12	K562	blood:
43	chr1:45282058..45285918-chr1:45660402..45665665,6	K562	blood:
44	chr1:45286163..45288443-chr1:45670899..45672707,2	MCF-7	breast:
45	chr1:45328286..45329887-chr1:45336731..45339196,2	K562	blood:
46	chr1:45671664..45672380-chr14:21737105..21737971,2	Hela-S3	cervix:
47	chr1:45285105..45286077-chr7:144532688..144533601,2	HCT-116	colon:
48	chr1:45430652..45433311-chr1:45435078..45437709,3	K562	blood:
49	chr1:45292499..45294385-chr1:45295727..45297570,3	MCF-7	breast:
50	chr1:45568343..45570582-chr1:45575672..45578540,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2B3-1	chr1:45454377-45457506	NONHSAT002914
2	lnc-BTBD19-3	chr1:45480612-45481077	NONHSAT002917
3	lnc-UROD-1	chr1:45456097-45456130	l_49_chr1:45444990-45456130_testes
4	lnc-PTCH2-1	chr1:45340350-45340498	NONHSAT002911
5	lnc-UROD-1	chr1:45444991-45445276	l_49_chr1:45444990-45456130_testes
6	lnc-BTBD19-3	chr1:45480219-45480508	NONHSAT002917
7	lnc-BTBD19-1	chr1:45282569-45283445	XLOC_000166
8	lnc-HPDL-1	chr1:45672409-45675890	NONHSAT002922
9	lnc-PTCH2-1	chr1:45328676-45328833	NONHSAT002911
10	lnc-ZSWIM5-1	chr1:45553747-45553909	NONHSAT002919
11	lnc-HPDL-1	chr1:45683510-45683543	XLOC_000167
12	lnc-PTCH2-1	chr1:45341290-45341294	NONHSAT002911
13	lnc-HPDL-1	chr1:45672404-45672689	XLOC_000167
14	lnc-UROD-2	chr1:45542169-45543877	refGeneNc_2327_NR_024270

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	HECTD3	hsa-miR-7-5p	chr1:45468912-45468906
2	HECTD3	hsa-miR-26b-5p	chr1:45468875-45468868
3	HECTD3	hsa-miR-122-5p	chr1:45468275-45468268
4	HECTD3	hsa-miR-122-5p	chr1:45468269-45468290
5	HECTD3	hsa-miR-26b-5p	chr1:45468869-45468889

Variant related genes	Relation type
CCNB1IP1P1	TF binding region
ZSWIM5	TF binding region
RNU5E-6P	TF binding region
OSTCP5	TF binding region
RNA5SP47	TF binding region
PTCH2	TF binding region
MRPS17P1	TF binding region
ENSG00000264650	TF binding region
EIF2B3	TF binding region
ENSG00000266294	TF binding region
HECTD3	TF binding region
ENSG00000226499	TF binding region
UROD	TF binding region
ENSG00000232369	TF binding region
CCNB1IP1P1	CpG island
ZSWIM5	CpG island
RNU5E-6P	CpG island
OSTCP5	CpG island
RNA5SP47	CpG island
PTCH2	CpG island
MRPS17P1	CpG island
ENSG00000264650	CpG island
EIF2B3	CpG island
ENSG00000266294	CpG island
HECTD3	CpG island
ENSG00000226499	CpG island
UROD	CpG island
ENSG00000232369	CpG island
ENSG00000200169	chromatin interactions
ENSG00000172007	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000132763	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000228988	chromatin interactions
ENSG00000203667	chromatin interactions
ENSG00000124688	chromatin interactions
ENSG00000167173	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000173846	chromatin interactions
ENSG00000106803	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000183971	chromatin interactions
ENSG00000142959	chromatin interactions
ENSG00000132423	chromatin interactions
ENSG00000198910	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000162959	chromatin interactions
ENSG00000253039	chromatin interactions
ENSG00000221707	chromatin interactions
ENSG00000266294	chromatin interactions
ENSG00000113407	chromatin interactions
ENSG00000236624	chromatin interactions
ENSG00000196428	chromatin interactions
ENSG00000172432	chromatin interactions
ENSG00000178761	chromatin interactions
ENSG00000202444	chromatin interactions
ENSG00000268949	chromatin interactions
ENSG00000273247	chromatin interactions
ENSG00000126088	chromatin interactions
ENSG00000116754	chromatin interactions
ENSG00000200913	chromatin interactions
ENSG00000120889	chromatin interactions
ENSG00000070759	chromatin interactions
ENSG00000080824	chromatin interactions
ENSG00000132780	chromatin interactions
ENSG00000117425	chromatin interactions
ENSG00000166435	chromatin interactions
ENSG00000117450	chromatin interactions
ENSG00000170832	chromatin interactions
ENSG00000141371	chromatin interactions
ENSG00000187147	chromatin interactions
ENSG00000119523	chromatin interactions
ENSG00000226499	chromatin interactions
ENSG00000196511	chromatin interactions
ENSG00000126106	chromatin interactions
ENSG00000188396	chromatin interactions
ENSG00000172638	chromatin interactions
ENSG00000213719	chromatin interactions
ENSG00000163041	chromatin interactions
ENSG00000207421	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000229815	chromatin interactions
ENSG00000183814	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000238945	chromatin interactions
ENSG00000132773	chromatin interactions
ENSG00000159596	chromatin interactions
ENSG00000165632	chromatin interactions
ENSG00000234093	chromatin interactions
ENSG00000255152	chromatin interactions
ENSG00000111912	chromatin interactions
ENSG00000126107	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000142945	chromatin interactions
ENSG00000117410	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000272562	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000222009	chromatin interactions
ENSG00000167962	chromatin interactions
ENSG00000204410	chromatin interactions
ENSG00000202031	chromatin interactions
ENSG00000186603	chromatin interactions
ENSG00000162415	chromatin interactions
ENSG00000070785	chromatin interactions
ENSG00000171067	chromatin interactions
ENSG00000147162	chromatin interactions
ENSG00000118363	chromatin interactions
ENSG00000196517	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000132781	chromatin interactions
ENSG00000198520	chromatin interactions
ENSG00000159592	chromatin interactions
ENSG00000117448	chromatin interactions
ENSG00000092199	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000156411	chromatin interactions
ENSG00000232369	chromatin interactions
ENSG00000264294	chromatin interactions
RAB5A	miRNA target sites

Extended variants
information (count: 14868 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:14868 , 50 per page) page: 1 2 3 4 5 6 7 ... 298

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538579638	chr1:45282837-45282838	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
2	rs558335670	chr1:45282840-45282841	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
3	rs553521573	chr1:45282854-45282855	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
4	rs578230220	chr1:45282875-45282876	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
5	rs80171855	chr1:45282882-45282883	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
6	rs553958203	chr1:45282895-45282896	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
7	rs368149178	chr1:45282958-45282959	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
8	rs138596809	chr1:45282960-45282961	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
9	rs199681988	chr1:45282998-45282999	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
10	rs542650779	chr1:45283041-45283042	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
11	rs567637346	chr1:45283047-45283048	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
12	rs536659657	chr1:45283103-45283104	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
13	rs140316525	chr1:45283136-45283137	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
14	rs531458869	chr1:45283153-45283154	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
15	rs560729379	chr1:45283180-45283181	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
16	rs185669117	chr1:45283213-45283214	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
17	rs546872852	chr1:45283245-45283246	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
18	rs564713043	chr1:45283296-45283297	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
19	rs527512319	chr1:45283342-45283343	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
20	rs371276965	chr1:45283371-45283372	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
21	rs6656856	chr1:45283383-45283384	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
22	rs540709427	chr1:45283415-45283416	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
23	rs190179631	chr1:45283468-45283469	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
24	rs566773095	chr1:45283553-45283554	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
25	rs6657078	chr1:45283557-45283558	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183124770	chr1:45283589-45283590	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
27	rs569678536	chr1:45283596-45283597	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
28	rs558757416	chr1:45283597-45283598	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
29	rs374576319	chr1:45283604-45283605	Weak transcription Enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
30	rs558502594	chr1:45283617-45283618	Weak transcription Enhancers	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
31	rs1142357	chr1:45283618-45283619	Weak transcription Enhancers	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
32	rs1142359	chr1:45283621-45283622	Weak transcription Enhancers	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
33	rs572004001	chr1:45283637-45283638	Weak transcription Enhancers	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
34	rs1142361	chr1:45283646-45283647	Weak transcription Enhancers	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
35	rs534108572	chr1:45283647-45283648	Weak transcription Enhancers	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
36	rs115684912	chr1:45283651-45283652	Weak transcription Enhancers	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
37	rs12405110	chr1:45283658-45283659	Weak transcription Enhancers	Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1138622	chr1:45283663-45283664	Weak transcription Enhancers	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
39	rs190938421	chr1:45283708-45283709	Weak transcription Enhancers	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
40	rs556095099	chr1:45283710-45283711	Weak transcription Enhancers	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
41	rs149530942	chr1:45283714-45283715	Weak transcription Enhancers	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
42	rs1142364	chr1:45283717-45283718	Weak transcription Enhancers	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
43	rs576052806	chr1:45283723-45283724	Weak transcription Enhancers	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
44	rs573976021	chr1:45283750-45283751	Weak transcription Enhancers	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
45	rs544871940	chr1:45283757-45283758	Weak transcription Enhancers	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
46	rs377102904	chr1:45283793-45283794	Weak transcription Enhancers	Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
47	rs78167691	chr1:45283794-45283795	Weak transcription Enhancers	Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
48	rs111329993	chr1:45283801-45283802	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
49	rs79609844	chr1:45283806-45283807	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
50	rs564823778	chr1:45283846-45283847	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:7796 , 50 per page) page: 1 2 3 4 5 6 7 ... 156

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45278000-45284800	Weak transcription	Hela-S3	cervix
2	chr1:45278200-45284800	Weak transcription	K562	blood
3	chr1:45279400-45284800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:45279400-45285000	Weak transcription	Fetal Heart	heart
5	chr1:45279600-45284800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:45279800-45283200	Weak transcription	Gastric	stomach
7	chr1:45279800-45283400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:45279800-45284000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:45279800-45284800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:45279800-45284800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:45279800-45284800	Weak transcription	Aorta	Aorta
12	chr1:45279800-45284800	Weak transcription	Brain Angular Gyrus	brain
13	chr1:45279800-45284800	Weak transcription	Pancreas	Pancrea
14	chr1:45279800-45284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:45279800-45285000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:45279800-45285000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:45279800-45285000	Weak transcription	Ovary	ovary
18	chr1:45279800-45285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:45279800-45285800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:45280000-45283400	Weak transcription	Fetal Brain Male	brain
21	chr1:45280000-45283800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:45280000-45284000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:45280000-45284800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:45280000-45284800	Weak transcription	Primary T cells from cord blood	blood
25	chr1:45280000-45284800	Weak transcription	Adipose Nuclei	Adipose
26	chr1:45280000-45284800	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:45280000-45284800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:45280000-45285000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:45280200-45283000	Weak transcription	Dnd41	blood
30	chr1:45280200-45283200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:45280200-45284600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:45280200-45284800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:45280200-45284800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:45280200-45284800	Weak transcription	Brain Anterior Caudate	brain
35	chr1:45280200-45284800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:45280200-45284800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:45280200-45284800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:45280200-45285000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:45280200-45285000	Weak transcription	Left Ventricle	heart
40	chr1:45280400-45284800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:45280400-45284800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:45280600-45283800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:45280600-45284800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:45280800-45283400	Strong transcription	NH-A	brain
45	chr1:45280800-45283800	Weak transcription	Primary B cells from cord blood	blood
46	chr1:45280800-45283800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:45280800-45284200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:45280800-45284200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:45280800-45284800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:45280800-45284800	Weak transcription	Liver	Liver

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