Variant report

Variant	nsv821726
Chromosome Location	chr2:133011993-133046597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7031)
CpG islands
(count:3241)
Chromatin interactive
region (count:256)
LncRNA
region (count:10)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:7031 , 50 per page) page: 1 2 3 4 5 6 7 ... 141

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:133011761-133013355	K562	blood:	n/a	n/a
2	ARID3A	chr2:133015019-133015747	K562	blood:	n/a	n/a
3	ARID3A	chr2:133021777-133024659	K562	blood:	n/a	n/a
4	ARID3A	chr2:133044459-133044810	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:133024999-133028006	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:133041164-133041233	K562	blood:	n/a	n/a
7	ARID3A	chr2:133035680-133036126	K562	blood:	n/a	n/a
8	ARID3A	chr2:133032461-133033743	K562	blood:	n/a	n/a
9	ARID3A	chr2:133032280-133033731	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:133024878-133031935	K562	blood:	n/a	n/a
11	ARID3A	chr2:133037976-133039294	K562	blood:	n/a	n/a
12	ATF1	chr2:133024991-133031933	K562	blood:	n/a	n/a
13	ATF1	chr2:133011772-133013346	K562	blood:	n/a	n/a
14	ATF1	chr2:133018613-133021289	K562	blood:	n/a	n/a
15	ATF1	chr2:133044238-133044806	K562	blood:	n/a	n/a
16	ATF1	chr2:133016237-133017446	K562	blood:	n/a	n/a
17	ATF1	chr2:133032469-133033732	K562	blood:	n/a	n/a
18	ATF1	chr2:133021765-133024691	K562	blood:	n/a	n/a
19	ATF2	chr2:133011789-133012265	GM12878	blood:	n/a	n/a
20	ATF2	chr2:133011825-133013352	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr2:133012462-133013089	GM12878	blood:	n/a	n/a
22	ATF2	chr2:133011823-133013332	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr2:133028916-133031075	GM12878	blood:	n/a	n/a
24	ATF2	chr2:133011836-133012126	GM12878	blood:	n/a	n/a
25	ATF2	chr2:133012312-133013340	GM12878	blood:	n/a	n/a
26	ATF3	chr2:133025549-133026035	HepG2	liver:	n/a	n/a
27	ATF3	chr2:133023013-133023655	HepG2	liver:	n/a	n/a
28	ATF3	chr2:133014997-133015569	A549	lung:	n/a	n/a
29	ATF3	chr2:133038024-133038380	A549	lung:	n/a	n/a
30	ATF3	chr2:133018709-133019159	HepG2	liver:	n/a	n/a
31	ATF3	chr2:133012403-133013259	HepG2	liver:	n/a	n/a
32	ATF3	chr2:133020043-133020233	K562	blood:	n/a	n/a
33	ATF3	chr2:133022327-133022859	HepG2	liver:	n/a	n/a
34	ATF3	chr2:133012465-133013223	K562	blood:	n/a	n/a
35	ATF3	chr2:133011752-133013354	A549	lung:	n/a	n/a
36	ATF3	chr2:133028832-133029372	HepG2	liver:	n/a	n/a
37	ATF3	chr2:133028279-133028662	HepG2	liver:	n/a	n/a
38	ATF3	chr2:133021822-133031930	K562	blood:	n/a	n/a
39	ATF3	chr2:133031489-133031880	HepG2	liver:	n/a	n/a
40	ATF3	chr2:133034363-133034795	K562	blood:	n/a	n/a
41	ATF3	chr2:133032785-133033604	HepG2	liver:	n/a	n/a
42	ATF3	chr2:133023055-133023668	K562	blood:	n/a	n/a
43	ATF3	chr2:133016618-133017347	HepG2	liver:	n/a	n/a
44	ATF3	chr2:133032559-133032768	HepG2	liver:	n/a	n/a
45	ATF3	chr2:133011744-133013434	A549	lung:	n/a	n/a
46	ATF3	chr2:133025667-133026458	K562	blood:	n/a	n/a
47	ATF3	chr2:133034301-133034812	HepG2	liver:	n/a	n/a
48	ATF3	chr2:133025728-133025957	K562	blood:	n/a	n/a
49	ATF3	chr2:133015927-133017546	K562	blood:	n/a	n/a
50	ATF3	chr2:133017036-133017375	K562	blood:	n/a	n/a

(count:3241 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:133013792-133013842	HPAEpiC	pulmonary alveolar:	n/a
2	chr2:133033270-133033320	HIPEpiC	eye:	n/a
3	chr2:133030691-133030741	Hela-S3	cervix:	n/a
4	chr2:133013028-133013078	BJ	skin:	n/a
5	chr2:133030691-133030741	ECC-1	luminal epithelium:	n/a
6	chr2:133033202-133033252	AG09309	skin:	n/a
7	chr2:133036548-133036598	SK-N-MC	brain:	n/a
8	chr2:133013489-133013539	HRE	kidney:	n/a
9	chr2:133013792-133013842	HPAEpiC	pulmonary alveolar:	n/a
10	chr2:133033270-133033320	HIPEpiC	eye:	n/a
11	chr2:133030691-133030741	Hela-S3	cervix:	n/a
12	chr2:133013028-133013078	BJ	skin:	n/a
13	chr2:133030691-133030741	ECC-1	luminal epithelium:	n/a
14	chr2:133033202-133033252	AG09309	skin:	n/a
15	chr2:133036548-133036598	SK-N-MC	brain:	n/a
16	chr2:133013489-133013539	HRE	kidney:	n/a
17	chr2:133015665-133015715	A549	lung:	n/a
18	chr2:133022980-133023030	GM06990	blood:	n/a
19	chr2:133037006-133037056	AG09319	gingival:	n/a
20	chr2:133014663-133014713	SK-N-SH	brain:	n/a
21	chr2:133036935-133036985	SKMC	muscle:	n/a
22	chr2:133039779-133039829	ovcar-3	ovarian:	n/a
23	chr2:133012353-133012403	AG09309	skin:	n/a
24	chr2:133023100-133023150	CMK	blood:	n/a
25	chr2:133014784-133014834	HPAEpiC	pulmonary alveolar:	n/a
26	chr2:133038261-133038311	GM19239	blood:	n/a
27	chr2:133016453-133016503	Jurkat	blood:	n/a
28	chr2:133014805-133014855	SK-N-MC	brain:	n/a
29	chr2:133038669-133038719	HRE	kidney:	n/a
30	chr2:133038836-133038886	SKMC	muscle:	n/a
31	chr2:133038912-133038962	MCF-7	breast:	n/a
32	chr2:133014765-133014815	K562	blood:	n/a
33	chr2:133012182-133012232	AoSMC	blood vessel:	n/a
34	chr2:133014784-133014834	GM12891	blood:	n/a
35	chr2:133036935-133036985	SK-N-SH_RA	brain:	n/a
36	chr2:133014805-133014855	H1-hESC	embryonic stem cell:	embryo
37	chr2:133015639-133015689	SK-N-MC	brain:	n/a
38	chr2:133023100-133023150	NB4	blood:	n/a
39	chr2:133036935-133036985	SK-N-MC	brain:	n/a
40	chr2:133016799-133016849	AG04450	lung:	fetal
41	chr2:133037057-133037107	BE2_C	brain:	n/a
42	chr2:133012182-133012232	H1-hESC	embryonic stem cell:	embryo
43	chr2:133038836-133038886	HPAEpiC	pulmonary alveolar:	n/a
44	chr2:133036873-133036923	ECC-1	luminal epithelium:	n/a
45	chr2:133014663-133014713	HAEpiC	amniotic membrane:	n/a
46	chr2:133013489-133013539	H1-hESC	embryonic stem cell:	embryo
47	chr2:133039779-133039829	HIPEpiC	eye:	n/a
48	chr2:133025835-133025885	HNPCEpiC	eye:	n/a
49	chr2:133038836-133038886	SK-N-MC	brain:	n/a
50	chr2:133038912-133038962	ECC-1	luminal epithelium:	n/a

(count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr2:133033376..133034924-chrX:136518973..136520478,2	K562	blood:
2	chr2:133038177..133039677-chr2:230044041..230045609,2	MCF-7	breast:
3	chr12:20703892..20704983-chr2:133011971..133012956,17	MCF-7	breast:
4	chr12:38444829..38445449-chr2:133022690..133023552,2	MCF-7	breast:
5	chr16:33957194..33957782-chr2:133025249..133025848,2	MCF-7	breast:
6	chr16:33956695..33957643-chr2:133025283..133025850,2	MCF-7	breast:
7	chr12:34416748..34417268-chr2:133025884..133026405,2	MCF-7	breast:
8	chr14:65220335..65220855-chr2:133012578..133013363,2	MCF-7	breast:
9	chr1:91852916..91854571-chr2:133011071..133013655,2	K562	blood:
10	chr19:11265994..11266705-chr2:133029358..133030275,2	MCF-7	breast:
11	chr2:133023726..133025567-chr2:133036787..133038950,2	K562	blood:
12	chr16:33951094..33954926-chr2:133029316..133031796,4	K562	blood:
13	chr1:91852368..91853074-chr2:133036534..133037037,3	MCF-7	breast:
14	chr18:12076427..12076927-chr2:133026979..133027666,2	HCT-116	colon:
15	chr1:91852393..91852995-chr2:133036535..133037053,3	MCF-7	breast:
16	chr2:133038216..133038968-chr5:71146910..71147410,2	K562	blood:
17	chr2:133012553..133013467-chr7:80963093..80963608,2	MCF-7	breast:
18	chr16:33958722..33959714-chr2:133022679..133024056,7	MCF-7	breast:
19	chr16:33948058..33954885-chr2:133028801..133034197,14	MCF-7	breast:
20	chr16:14579456..14582439-chr2:133031887..133034194,4	MCF-7	breast:
21	chr17:45257479..45260473-chr2:133018355..133021074,2	MCF-7	breast:
22	chr11:45847793..45848776-chr2:133011952..133012946,3	K562	blood:
23	chr11:65320731..65322785-chr2:133026948..133028937,2	MCF-7	breast:
24	chr2:133035372..133036357-chr6:119558115..119558640,6	MCF-7	breast:
25	chr16:33956654..33957368-chr2:133025178..133025822,2	K562	blood:
26	chr16:33960780..33961390-chr2:133014727..133015238,2	K562	blood:
27	chr2:133015187..133015799-chr21:9825605..9826185,2	K562	blood:
28	chr12:127650410..127651159-chr2:133035504..133036500,2	MCF-7	breast:
29	chr2:133014738..133015584-chr20:26189167..26190034,2	NB4	blood:
30	chr2:133025819..133026383-chr7:134455604..134456104,2	MCF-7	breast:
31	chr16:33955610..33959101-chr2:133023879..133027782,14	K562	blood:
32	chr2:133009402..133016367-chr21:9824030..9829043,35	MCF-7	breast:
33	chr2:133036012..133038474-chr20:26188735..26191734,4	K562	blood:
34	chr17:45213971..45214683-chr2:133020743..133021713,3	MCF-7	breast:
35	chr15:88798748..88800248-chr2:133012580..133014382,2	K562	blood:
36	chr17:31148358..31151185-chr2:133033040..133035973,2	MCF-7	breast:
37	chr2:133012736..133013451-chr7:80963085..80963599,2	MCF-7	breast:
38	chr16:33952705..33953673-chr2:133029805..133030337,2	MCF-7	breast:
39	chr16:33961611..33967347-chr2:133008818..133014443,19	K562	blood:
40	chr17:45231539..45232062-chr2:133019343..133019865,2	MCF-7	breast:
41	chr1:205242237..205242803-chr2:133028691..133029317,2	MCF-7	breast:
42	chr2:133010317..133016704-chr21:9824094..9829011,32	MCF-7	breast:
43	chr16:33962937..33964900-chr2:133011811..133013396,20	MCF-7	breast:
44	chr12:38450015..38451840-chr2:133028967..133030976,3	MCF-7	breast:
45	chr2:133032641..133033611-chrX:136519934..136520441,2	MCF-7	breast:
46	chr2:133033413..133033973-chrX:136519940..136520483,3	MCF-7	breast:
47	chr2:133029837..133030626-chr20:26189306..26190000,2	MCF-7	breast:
48	chr12:20703898..20704919-chr2:133012092..133013365,7	MCF-7	breast:
49	chr12:20703882..20704901-chr2:133012074..133013263,9	K562	blood:
50	chr12:20702911..20705964-chr2:133010767..133014432,7	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR39-7	chr2:133038981-133039086	NONHSAT074524
2	lnc-GPR39-7	chr2:133036673-133036713	NONHSAT074524
3	lnc-GPR39-7	chr2:133038656-133038732	NONHSAT074524
4	lnc-GPR39-9	chr2:133019901-133020615	NONHSAT074520
5	lnc-GPR39-10	chr2:133013340-133013485	NONHSAT074516
6	lnc-ANKRD30BL-1	chr2:133043368-133043465	XLOC_002329
7	lnc-ANKRD30BL-3	chr2:133015102-133015542	NONHSAT074513
8	lnc-ANKRD30BL-1	chr2:133046475-133046638	XLOC_002329
9	lnc-GPR39-10	chr2:133013066-133013266	NONHSAT074516
10	lnc-GPR39-7	chr2:133037726-133037732	NONHSAT074524

miRNA name	Chromosome Location	mirBase accession
hsa-miR-663b	chr2:133014543-133014564	MIMAT0005867

No data

Variant related genes	Relation type
ANKRD30BL	TF binding region
CDC27P1	TF binding region
RNA5-8SP5	TF binding region
MIR663B	TF binding region
ANKRD30BL	CpG island
CDC27P1	CpG island
RNA5-8SP5	CpG island
MIR663B	CpG island
ENSG00000107968	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000226958	chromatin interactions
ENSG00000004897	chromatin interactions
ENSG00000207986	chromatin interactions
ENSG00000227195	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000239776	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000256663	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000168056	chromatin interactions
ENSG00000198133	chromatin interactions
ENSG00000161888	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000256642	chromatin interactions
ENSG00000140538	chromatin interactions
ENSG00000256616	chromatin interactions
ENSG00000200434	chromatin interactions
ENSG00000104497	chromatin interactions
HRASLS5	Mature miRNA region

Extended variants
information (count: 5960 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:5960 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62164987	chr2:133011994-133011995	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs111469949	chr2:133011995-133011996	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs532740069	chr2:133012001-133012002	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs541664430	chr2:133012004-133012005	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs143519085	chr2:133012005-133012006	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs559707477	chr2:133012006-133012007	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs62164988	chr2:133012007-133012008	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs62164989	chr2:133012011-133012012	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs112199236	chr2:133012012-133012013	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs79993289	chr2:133012019-133012020	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs113881131	chr2:133012022-133012023	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs75327867	chr2:133012026-133012027	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs376817461	chr2:133012028-133012029	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs142355430	chr2:133012032-133012033	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs369739773	chr2:133012034-133012035	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs148370590	chr2:133012037-133012038	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs79377881	chr2:133012039-133012040	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs76941035	chr2:133012061-133012062	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs386650600	chr2:133012070-133012071	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs74715610	chr2:133012072-133012073	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs569846016	chr2:133012074-133012075	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs369441179	chr2:133012078-133012079	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs199957983	chr2:133012079-133012080	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs373090554	chr2:133012080-133012081	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs200826088	chr2:133012081-133012082	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs386650601	chr2:133012082-133012083	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs76724860	chr2:133012085-133012086	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs78984900	chr2:133012099-133012100	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs570775298	chr2:133012103-133012104	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs386650602	chr2:133012109-133012110	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs374305107	chr2:133012111-133012112	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs9679627	chr2:133012126-133012127	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs74977406	chr2:133012130-133012131	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs35987834	chr2:133012138-133012139	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs75787475	chr2:133012147-133012148	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs76441025	chr2:133012159-133012160	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs80317269	chr2:133012170-133012171	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs78017871	chr2:133012171-133012172	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs16849032	chr2:133012172-133012173	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs547634112	chr2:133012173-133012174	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs373945579	chr2:133012177-133012178	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs75644235	chr2:133012182-133012183	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs376880286	chr2:133012183-133012184	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs368875818	chr2:133012185-133012186	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs373368507	chr2:133012190-133012191	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs377374564	chr2:133012199-133012200	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs370791081	chr2:133012208-133012209	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs373976116	chr2:133012210-133012211	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs377342816	chr2:133012211-133012212	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs113802263	chr2:133012216-133012217	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2160 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133004400-133012000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:133008400-133013200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr2:133008400-133017400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr2:133009600-133012000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:133009600-133012000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:133009800-133017400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:133009800-133017600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:133010000-133012000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
9	chr2:133010400-133017400	ZNF genes & repeats	Colonic Mucosa	Colon
10	chr2:133010400-133017400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr2:133010400-133017600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr2:133010600-133012600	ZNF genes & repeats	Fetal Stomach	stomach
13	chr2:133010600-133017400	ZNF genes & repeats	Dnd41	blood
14	chr2:133010800-133012000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:133011000-133017600	ZNF genes & repeats	Fetal Intestine Large	intestine
16	chr2:133011400-133017400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
17	chr2:133011600-133017400	ZNF genes & repeats	Fetal Thymus	thymus
18	chr2:133011800-133012000	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr2:133011800-133012200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:133011800-133012600	ZNF genes & repeats	Fetal Muscle Leg	muscle
21	chr2:133011800-133013200	Flanking Bivalent TSS/Enh	Gastric	stomach
22	chr2:133011800-133013200	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
23	chr2:133011800-133013400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:133011800-133013400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:133011800-133013400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr2:133011800-133013400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr2:133011800-133013400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
28	chr2:133011800-133013400	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr2:133011800-133013400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
30	chr2:133011800-133013400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
31	chr2:133011800-133013400	ZNF genes & repeats	Ovary	ovary
32	chr2:133011800-133013400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
33	chr2:133011800-133013400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
34	chr2:133011800-133013400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
35	chr2:133011800-133013800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:133011800-133013800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:133011800-133014400	ZNF genes & repeats	Brain Germinal Matrix	brain
38	chr2:133011800-133016000	ZNF genes & repeats	Fetal Brain Male	brain
39	chr2:133011800-133016600	ZNF genes & repeats	Pancreas	Pancrea
40	chr2:133011800-133017400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
41	chr2:133011800-133017400	ZNF genes & repeats	Esophagus	oesophagus
42	chr2:133011800-133017400	ZNF genes & repeats	Fetal Brain Female	brain
43	chr2:133011800-133017400	ZNF genes & repeats	Small Intestine	intestine
44	chr2:133011800-133017400	ZNF genes & repeats	Thymus	Thymus
45	chr2:133011800-133017400	ZNF genes & repeats	Spleen	Spleen
46	chr2:133012000-133012200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr2:133012000-133012200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
48	chr2:133012000-133012200	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr2:133012000-133012200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
50	chr2:133012000-133012200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain

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