Variant report

Variant	nsv894668
Chromosome Location	chr9:140477812-140518576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2949)
CpG islands
(count:1588)
Chromatin interactive
region (count:123)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2949 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:140512995-140513194	K562	blood:	n/a	n/a
2	ARID3A	chr9:140514701-140514718	K562	blood:	n/a	n/a
3	ATF1	chr9:140485031-140485339	K562	blood:	n/a	n/a
4	ATF1	chr9:140512908-140513272	K562	blood:	n/a	n/a
5	ATF2	chr9:140512846-140513342	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr9:140513019-140513356	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr9:140512599-140513361	GM12878	blood:	n/a	n/a
8	ATF2	chr9:140512882-140513291	GM12878	blood:	n/a	n/a
9	ATF3	chr9:140499555-140499816	K562	blood:	n/a	chr9:140499631-140499640
10	ATF3	chr9:140513089-140513438	A549	lung:	n/a	chr9:140513400-140513409
11	ATF3	chr9:140500314-140500576	K562	blood:	n/a	n/a
12	ATF3	chr9:140506272-140506563	K562	blood:	n/a	n/a
13	ATF3	chr9:140513263-140513470	GM12878	blood:	n/a	chr9:140513400-140513409
14	ATF3	chr9:140506242-140506580	K562	blood:	n/a	n/a
15	ATF3	chr9:140512666-140513485	A549	lung:	n/a	chr9:140513400-140513409
16	ATF3	chr9:140513171-140513459	H1-hESC	embryonic stem cell:	n/a	chr9:140513400-140513409
17	ATF3	chr9:140513079-140513492	K562	blood:	n/a	chr9:140513400-140513409
18	ATF3	chr9:140512941-140513477	K562	blood:	n/a	chr9:140513400-140513409
19	ATF3	chr9:140513192-140513485	HepG2	liver:	n/a	chr9:140513400-140513409
20	BACH1	chr9:140485179-140485711	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr9:140506296-140506570	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr9:140512354-140512455	K562	blood:	n/a	n/a
23	BCL3	chr9:140512554-140513408	A549	lung:	n/a	n/a
24	BCL3	chr9:140512432-140513462	GM12878	blood:	n/a	n/a
25	BCL3	chr9:140506032-140508286	A549	lung:	n/a	n/a
26	BCL3	chr9:140505934-140508793	A549	lung:	n/a	n/a
27	BCL3	chr9:140512082-140513429	A549	lung:	n/a	n/a
28	BCLAF1	chr9:140512590-140513424	GM12878	blood:	n/a	n/a
29	BHLHE40	chr9:140500196-140500599	K562	blood:	n/a	chr9:140500319-140500335
30	BHLHE40	chr9:140506261-140506575	A549	lung:	n/a	n/a
31	BHLHE40	chr9:140506344-140506505	GM12878	blood:	n/a	n/a
32	BHLHE40	chr9:140484981-140485173	GM12878	blood:	n/a	chr9:140484994-140485010
33	BHLHE40	chr9:140512971-140513406	K562	blood:	n/a	n/a
34	BHLHE40	chr9:140485106-140485787	K562	blood:	n/a	n/a
35	BHLHE40	chr9:140499561-140499836	K562	blood:	n/a	n/a
36	BHLHE40	chr9:140499598-140499770	GM12878	blood:	n/a	n/a
37	BHLHE40	chr9:140506203-140506789	K562	blood:	n/a	n/a
38	BHLHE40	chr9:140512827-140513435	GM12878	blood:	n/a	n/a
39	BHLHE40	chr9:140506215-140506621	HepG2	liver:	n/a	n/a
40	BHLHE40	chr9:140500257-140500479	GM12878	blood:	n/a	chr9:140500319-140500335
41	BHLHE40	chr9:140499614-140499783	HepG2	liver:	n/a	n/a
42	BHLHE40	chr9:140484293-140484320	K562	blood:	n/a	n/a
43	BHLHE40	chr9:140513027-140513435	HepG2	liver:	n/a	n/a
44	BHLHE40	chr9:140501892-140502243	HepG2	liver:	n/a	n/a
45	BHLHE40	chr9:140513901-140514002	GM12878	blood:	n/a	n/a
46	BRCA1	chr9:140513844-140513980	HepG2	liver:	n/a	n/a
47	BRCA1	chr9:140513086-140513352	GM12878	blood:	n/a	n/a
48	BRCA1	chr9:140506306-140506994	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr9:140485061-140485374	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr9:140513909-140514238	Hela-S3	cervix:	n/a	n/a

(count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:140512815-140512865	HAEpiC	amniotic membrane:	n/a
2	chr9:140513215-140513265	A549	lung:	n/a
3	chr9:140512815-140512865	HAEpiC	amniotic membrane:	n/a
4	chr9:140513215-140513265	A549	lung:	n/a
5	chr9:140499623-140499673	A549	lung:	n/a
6	chr9:140500208-140500258	SKMC	muscle:	n/a
7	chr9:140499132-140499182	PFSK-1	brain:	n/a
8	chr9:140512815-140512865	NB4	blood:	n/a
9	chr9:140512455-140512505	Jurkat	blood:	n/a
10	chr9:140500037-140500087	HIPEpiC	eye:	n/a
11	chr9:140502926-140502976	MCF-7	breast:	n/a
12	chr9:140512513-140512563	AG09309	skin:	n/a
13	chr9:140512815-140512865	SKMC	muscle:	n/a
14	chr9:140499397-140499447	HepG2	liver:	n/a
15	chr9:140484977-140485027	HCPEpiC	choroid plexus:	n/a
16	chr9:140500680-140500730	HPAEpiC	pulmonary alveolar:	n/a
17	chr9:140499623-140499673	Hela-S3	cervix:	n/a
18	chr9:140484977-140485027	HMEC	breast:	n/a
19	chr9:140500680-140500730	PrEC	prostate:	n/a
20	chr9:140484977-140485027	H1-hESC	embryonic stem cell:	embryo
21	chr9:140514016-140514066	K562	blood:	n/a
22	chr9:140499397-140499447	PrEC	prostate:	n/a
23	chr9:140512815-140512865	BE2_C	brain:	n/a
24	chr9:140487898-140487948	PrEC	prostate:	n/a
25	chr9:140513215-140513265	NH-A	brain:	n/a
26	chr9:140512455-140512505	A549	lung:	n/a
27	chr9:140499132-140499182	ovcar-3	ovarian:	n/a
28	chr9:140484977-140485027	HPAEpiC	pulmonary alveolar:	n/a
29	chr9:140483477-140483527	SK-N-MC	brain:	n/a
30	chr9:140485720-140485770	PANC-1	pancreas:	n/a
31	chr9:140501305-140501355	AoSMC	blood vessel:	n/a
32	chr9:140514016-140514066	PFSK-1	brain:	n/a
33	chr9:140485720-140485770	AG09319	gingival:	n/a
34	chr9:140512815-140512865	K562	blood:	n/a
35	chr9:140500037-140500087	HUVEC	blood vessel:	n/a
36	chr9:140484220-140484270	HCM	heart:	n/a
37	chr9:140500680-140500730	HepG2	liver:	n/a
38	chr9:140500208-140500258	NHDF-neo	bronchial:	n/a
39	chr9:140485596-140485646	Jurkat	blood:	n/a
40	chr9:140500680-140500730	GM12892	blood:	n/a
41	chr9:140484977-140485027	GM12892	blood:	n/a
42	chr9:140513215-140513265	MCF10A-Er-Src	breast:	n/a
43	chr9:140514016-140514066	Caco-2	colon:	n/a
44	chr9:140500208-140500258	MCF10A-Er-Src	breast:	n/a
45	chr9:140484847-140484897	GM12878	blood:	n/a
46	chr9:140512513-140512563	A549	lung:	n/a
47	chr9:140512815-140512865	HPAEpiC	pulmonary alveolar:	n/a
48	chr9:140513113-140513163	GM12891	blood:	n/a
49	chr9:140487898-140487948	NHDF-neo	bronchial:	n/a
50	chr9:140487898-140487948	U87	brain:	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:140512926..140516965-chr9:140518236..140522251,5	MCF-7	breast:
2	chr9:140487365..140489362-chr9:140508586..140511499,3	K562	blood:
3	chr9:140469283..140475998-chr9:140510945..140517022,12	K562	blood:
4	chr9:140470852..140475352-chr9:140511735..140515041,9	MCF-7	breast:
5	chr9:140469278..140479132-chr9:140503165..140510984,27	MCF-7	breast:
6	chr9:140487600..140490866-chr9:140491246..140493751,4	MCF-7	breast:
7	chr9:140443475..140446294-chr9:140484220..140486836,3	MCF-7	breast:
8	chr17:56707742..56709303-chr9:140500647..140503505,2	MCF-7	breast:
9	chr9:140470766..140479486-chr9:140497266..140502997,13	MCF-7	breast:
10	chr9:140482066..140484246-chr9:140508462..140511181,2	K562	blood:
11	chr9:140469278..140479132-chr9:140503165..140510984,27	MCF-7	breast:
12	chr9:140473167..140475529-chr9:140487290..140489947,2	MCF-7	breast:
13	chr9:140482103..140484736-chr9:140493235..140494793,2	MCF-7	breast:
14	chr9:140470600..140473358-chr9:140498484..140501413,2	K562	blood:
15	chr17:73775349..73776145-chr9:140506201..140506865,3	Hela-S3	cervix:
16	chr9:140482616..140489091-chr9:140495925..140503345,17	MCF-7	breast:
17	chr9:140447049..140448753-chr9:140497892..140500070,2	K562	blood:
18	chr9:140481624..140488545-chr9:140511605..140516057,16	MCF-7	breast:
19	chr9:140500723..140503070-chr9:140566116..140568927,3	K562	blood:
20	chr9:140481390..140486340-chr9:140509681..140515296,7	K562	blood:
21	chr5:38556248..38557150-chr9:140513261..140513996,2	Hela-S3	cervix:
22	chr9:140467532..140470216-chr9:140512251..140515096,2	MCF-7	breast:
23	chr9:140443479..140444983-chr9:140499290..140501657,2	K562	blood:
24	chr9:140478738..140480572-chr9:140563857..140565636,2	MCF-7	breast:
25	chr9:140492027..140494879-chr9:140495137..140497726,4	K562	blood:
26	chr9:140444986..140448753-chr9:140497892..140501428,4	K562	blood:
27	chr9:140475531..140477283-chr9:140490504..140492982,2	K562	blood:
28	chr5:108745145..108746117-chr9:140500319..140500843,2	Hela-S3	cervix:
29	chr9:140488494..140491209-chr9:140491658..140493363,3	MCF-7	breast:
30	chr9:140491452..140494377-chr9:140498511..140500095,2	K562	blood:
31	chr9:140515440..140517099-chr9:140525922..140527990,2	K562	blood:
32	chr11:66609649..66612516-chr9:140514616..140517037,2	MCF-7	breast:
33	chr9:140482794..140486242-chr9:140502841..140504768,3	K562	blood:
34	chr17:8059167..8059999-chr9:140506144..140506746,2	Hela-S3	cervix:
35	chr9:140487223..140489967-chr9:140490391..140493317,2	K562	blood:
36	chr9:140484029..140484784-chr9:140499884..140500416,2	MCF-7	breast:
37	chr9:140482399..140489274-chr9:140503366..140510626,23	MCF-7	breast:
38	chr9:140412905..140414820-chr9:140475554..140478292,2	K562	blood:
39	chr9:140138222..140140007-chr9:140479470..140482098,2	K562	blood:
40	chr14:67826020..67826820-chr9:140484636..140485558,2	Hela-S3	cervix:
41	chr9:140445084..140447863-chr9:140480393..140482885,2	MCF-7	breast:
42	chr9:140487521..140489708-chr9:140504969..140507591,2	K562	blood:
43	chr9:140470445..140476327-chr9:140498022..140503450,9	K562	blood:
44	chr9:140485611..140487134-chr9:140558504..140560713,2	MCF-7	breast:
45	chr9:128002978..128003976-chr9:140484864..140485791,2	Hela-S3	cervix:
46	chr2:219433435..219434245-chr9:140499709..140500590,2	Hela-S3	cervix:
47	chr17:1619677..1620447-chr9:140505862..140506714,2	Hela-S3	cervix:
48	chr14:96967956..96969589-chr9:140512244..140513858,2	MCF-7	breast:
49	chr9:140482399..140489274-chr9:140503366..140510626,23	MCF-7	breast:
50	chr9:140429112..140429930-chr9:140506255..140506842,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARRDC1-1	chr9:140477241-140479475	NONHSAT135743

No data

Variant related genes	Relation type
ZMYND19	TF binding region
ARRDC1	TF binding region
DPH7	TF binding region
EHMT1	TF binding region
C9orf37	TF binding region
ZMYND19	CpG island
ARRDC1	CpG island
DPH7	CpG island
EHMT1	CpG island
C9orf37	CpG island
ENSG00000177239	chromatin interactions
ENSG00000134824	chromatin interactions
ENSG00000133858	chromatin interactions
ENSG00000148399	chromatin interactions
ENSG00000207601	chromatin interactions
ENSG00000169957	chromatin interactions
ENSG00000203993	chromatin interactions
ENSG00000179094	chromatin interactions
ENSG00000180953	chromatin interactions
ENSG00000044574	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000144580	chromatin interactions
ENSG00000258938	chromatin interactions
ENSG00000167716	chromatin interactions
ENSG00000090060	chromatin interactions
ENSG00000134825	chromatin interactions
ENSG00000181090	chromatin interactions
ENSG00000100554	chromatin interactions
ENSG00000197191	chromatin interactions
ENSG00000198961	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000198113	chromatin interactions
ENSG00000244968	chromatin interactions
ENSG00000259332	chromatin interactions
ENSG00000239705	chromatin interactions
ENSG00000257028	chromatin interactions
ENSG00000197070	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000268996	chromatin interactions
ENSG00000113594	chromatin interactions
ENSG00000173653	chromatin interactions
ENSG00000165724	chromatin interactions
ENSG00000182154	chromatin interactions
ENSG00000134001	chromatin interactions
ENSG00000141556	chromatin interactions
ENSG00000100916	chromatin interactions
ENSG00000168496	chromatin interactions
ENSG00000259642	chromatin interactions
ENSG00000260806	chromatin interactions
ENSG00000165802	chromatin interactions
ENSG00000245080	chromatin interactions
ENSG00000006125	chromatin interactions
ENSG00000130653	chromatin interactions
ENSG00000258498	chromatin interactions

Extended variants
information (count: 1799 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:1799 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1891628	chr9:140477812-140477813	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76381778	chr9:140477836-140477837	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs35585962	chr9:140477853-140477854	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs534455270	chr9:140477859-140477860	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs144741278	chr9:140477869-140477870	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs570941186	chr9:140477883-140477884	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs536624670	chr9:140477890-140477891	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs557235851	chr9:140477911-140477912	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs191033771	chr9:140477915-140477916	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs550761084	chr9:140477966-140477967	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs553163031	chr9:140477993-140477994	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs573065877	chr9:140478001-140478002	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs570946337	chr9:140478006-140478007	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs565355268	chr9:140478028-140478029	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs530951866	chr9:140478068-140478069	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs544253017	chr9:140478076-140478077	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs200192215	chr9:140478086-140478087	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs6151226	chr9:140478087-140478088	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs372496986	chr9:140478088-140478089	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs569771097	chr9:140478110-140478111	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs148122583	chr9:140478128-140478129	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs530291087	chr9:140478175-140478176	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs546882489	chr9:140478177-140478178	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs548897293	chr9:140478203-140478204	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs566774375	chr9:140478236-140478237	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs565637214	chr9:140478249-140478250	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
27	rs4319214	chr9:140478342-140478343	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs532547473	chr9:140478375-140478376	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs543393808	chr9:140478397-140478398	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs146201816	chr9:140478399-140478400	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs551098417	chr9:140478420-140478421	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs369406580	chr9:140478453-140478454	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs534358969	chr9:140478458-140478459	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs556634773	chr9:140478473-140478474	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs567560849	chr9:140478485-140478486	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs557480480	chr9:140478508-140478509	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs536192915	chr9:140478542-140478543	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs542007811	chr9:140478583-140478584	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs577520966	chr9:140478606-140478607	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs142835009	chr9:140478610-140478611	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs573100915	chr9:140478615-140478616	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs183407962	chr9:140478690-140478691	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs200987203	chr9:140478695-140478696	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs559118037	chr9:140478727-140478728	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs35544669	chr9:140478732-140478733	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs575602698	chr9:140478735-140478736	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs544603540	chr9:140478749-140478750	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs532936685	chr9:140478750-140478751	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs530105414	chr9:140478774-140478775	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs540554675	chr9:140478775-140478776	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:3053 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140473400-140480000	Weak transcription	Small Intestine	intestine
2	chr9:140473800-140483600	Weak transcription	Fetal Kidney	kidney
3	chr9:140473800-140483800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:140474000-140478000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:140474000-140480000	Weak transcription	Stomach Mucosa	stomach
6	chr9:140474000-140480000	Weak transcription	HSMM	muscle
7	chr9:140474000-140480200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr9:140474000-140480800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr9:140474000-140481000	Weak transcription	HUVEC	blood vessel
10	chr9:140474000-140481200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr9:140474000-140481800	Weak transcription	HSMMtube	muscle
12	chr9:140474000-140482200	Weak transcription	Fetal Brain Male	brain
13	chr9:140474000-140482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:140474000-140483200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr9:140474000-140483400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr9:140474000-140483400	Weak transcription	Fetal Heart	heart
17	chr9:140474000-140483600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr9:140474200-140478800	Genic enhancers	Fetal Muscle Trunk	muscle
19	chr9:140474200-140483800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr9:140474400-140482800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr9:140474400-140483000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr9:140474600-140478000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:140474600-140480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr9:140474600-140483000	Strong transcription	Brain Angular Gyrus	brain
25	chr9:140474600-140483000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:140474600-140483200	Strong transcription	Brain Anterior Caudate	brain
27	chr9:140474600-140483400	Strong transcription	A549	lung
28	chr9:140474600-140483600	Strong transcription	Fetal Intestine Small	intestine
29	chr9:140474800-140478000	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr9:140474800-140482400	Strong transcription	K562	blood
31	chr9:140474800-140482800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:140474800-140483000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:140474800-140483000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:140474800-140483200	Strong transcription	Esophagus	oesophagus
35	chr9:140474800-140483400	Weak transcription	Psoas Muscle	Psoas
36	chr9:140475000-140482400	Strong transcription	Brain Germinal Matrix	brain
37	chr9:140475000-140482800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:140475000-140482800	Strong transcription	Gastric	stomach
39	chr9:140475000-140483000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:140475000-140483000	Strong transcription	NHEK	skin
41	chr9:140475000-140483200	Strong transcription	Fetal Brain Female	brain
42	chr9:140475000-140483600	Strong transcription	Thymus	Thymus
43	chr9:140475200-140482600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr9:140475200-140482800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:140475200-140483000	Strong transcription	Brain Cingulate Gyrus	brain
46	chr9:140475200-140483000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr9:140475200-140483200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr9:140475200-140483200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:140475200-140483200	Strong transcription	Fetal Muscle Leg	muscle
50	chr9:140475200-140483400	Strong transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links