Variant report

Variant	esv3415002
Chromosome Location	chr9:100953931-100956079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:100955397-100955799	HepG2	liver:	n/a	n/a
2	ATF2	chr9:100955322-100955828	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr9:100955256-100955711	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr9:100954961-100955224	K562	blood:	n/a	chr9:100955011-100955020
5	BACH1	chr9:100955063-100955788	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr9:100955196-100955714	GM12878	blood:	n/a	n/a
7	BHLHE40	chr9:100954926-100955886	K562	blood:	n/a	n/a
8	BHLHE40	chr9:100954333-100954705	K562	blood:	n/a	chr9:100954465-100954481
9	BHLHE40	chr9:100954920-100955304	GM12878	blood:	n/a	n/a
10	BHLHE40	chr9:100954758-100955708	HepG2	liver:	n/a	chr9:100954862-100954878 chr9:100954854-100954870 chr9:100954811-100954827
11	BRCA1	chr9:100955269-100955600	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr9:100955170-100955553	H1-hESC	embryonic stem cell:	n/a	n/a
13	CBX3	chr9:100955016-100955978	K562	blood:	n/a	n/a
14	CCNT2	chr9:100953902-100955664	K562	blood:	n/a	chr9:100954364-100954373
15	CEBPB	chr9:100955230-100955620	Hela-S3	cervix:	n/a	n/a
16	CEBPD	chr9:100954822-100955124	HepG2	liver:	n/a	n/a
17	CEBPD	chr9:100954737-100955355	HepG2	liver:	n/a	n/a
18	CHD1	chr9:100955241-100955568	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr9:100955014-100955214	K562	blood:	n/a	n/a
20	CHD2	chr9:100954510-100954687	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr9:100954479-100954567	K562	blood:	n/a	n/a
22	CHD2	chr9:100954090-100954229	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr9:100955192-100955774	GM12878	blood:	n/a	n/a
24	CHD2	chr9:100955442-100955710	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr9:100955067-100955110	HepG2	liver:	n/a	n/a
26	CHD2	chr9:100954908-100955776	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr9:100954483-100954683	HepG2	liver:	n/a	n/a
28	CREB1	chr9:100954761-100955669	A549	lung:	n/a	n/a
29	CTBP2	chr9:100953472-100955655	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr9:100954060-100954210	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr9:100955114-100955273	Fibrobl	skin:	n/a	chr9:100955156-100955165
32	CTCF	chr9:100955360-100955510	WI-38	lung:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
33	CTCF	chr9:100955387-100955609	HUVEC	blood vessel:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
34	CTCF	chr9:100955400-100955550	HMEC	breast:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
35	CTCF	chr9:100955327-100955634	A549	lung:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
36	CTCF	chr9:100955280-100955430	GM12864	blood:	n/a	n/a
37	CTCF	chr9:100955416-100955570	Lung_OC	lung:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
38	CTCF	chr9:100955406-100955590	GM19239	blood:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
39	CTCF	chr9:100955100-100955250	GM12868	blood:	n/a	chr9:100955156-100955165
40	CTCF	chr9:100955060-100955210	AG04449	skin:	n/a	chr9:100955156-100955165
41	CTCF	chr9:100954974-100955781	MCF-7	breast:	n/a	chr9:100955156-100955165 chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
42	CTCF	chr9:100955360-100955510	NHEK	skin:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
43	CTCF	chr9:100955440-100955590	BJ	skin:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
44	CTCF	chr9:100955440-100955590	GM12873	blood:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
45	CTCF	chr9:100955400-100955550	MCF-7	breast:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
46	CTCF	chr9:100955100-100955250	SK-N-SH_RA	brain:	n/a	chr9:100955156-100955165
47	CTCF	chr9:100955400-100955550	HCPEpiC	choroid plexus:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
48	CTCF	chr9:100955291-100955685	HepG2	liver:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
49	CTCF	chr9:100955420-100955570	AG10803	skin:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502
50	CTCF	chr9:100955420-100955570	SK-N-SH_RA	brain:	n/a	chr9:100955487-100955500 chr9:100955485-100955501 chr9:100955486-100955507 chr9:100955484-100955502

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:100954694-100954744	ovcar-3	ovarian:	n/a
2	chr9:100954694-100954744	Hela-S3	cervix:	n/a
3	chr9:100954694-100954744	LNCaP	prostate:	n/a
4	chr9:100955349-100955399	HRPEpiC	eye:	n/a
5	chr9:100954694-100954744	HNPCEpiC	eye:	n/a
6	chr9:100954694-100954744	ECC-1	luminal epithelium:	n/a
7	chr9:100955349-100955399	RPTEC	kidney:	n/a
8	chr9:100955349-100955399	HRCEpiC	kidney:	n/a
9	chr9:100954694-100954744	HCPEpiC	choroid plexus:	n/a
10	chr9:100954694-100954744	HEK293	kidney:	embryo
11	chr9:100955349-100955399	NHBE	bronchial:	n/a
12	chr9:100955349-100955399	HEEpiC	esophagus:	n/a
13	chr9:100954694-100954744	GM19239	blood:	n/a
14	chr9:100954694-100954744	NT2-D1	testis:	n/a
15	chr9:100954694-100954744	HMEC	breast:	n/a
16	chr9:100954694-100954744	K562	blood:	n/a
17	chr9:100955349-100955399	HRE	kidney:	n/a
18	chr9:100955349-100955399	BE2_C	brain:	n/a
19	chr9:100955349-100955399	AG09309	skin:	n/a
20	chr9:100955349-100955399	T-47D	breast:	n/a
21	chr9:100955349-100955399	NT2-D1	testis:	n/a
22	chr9:100954694-100954744	SK-N-SH	brain:	n/a
23	chr9:100954694-100954744	AG09319	gingival:	n/a
24	chr9:100954694-100954744	MCF-7	breast:	n/a
25	chr9:100954694-100954744	A549	lung:	n/a
26	chr9:100955349-100955399	NHDF-neo	bronchial:	n/a
27	chr9:100954694-100954744	MCF10A-Er-Src	breast:	n/a
28	chr9:100955349-100955399	K562	blood:	n/a
29	chr9:100955349-100955399	LNCaP	prostate:	n/a
30	chr9:100955349-100955399	PFSK-1	brain:	n/a
31	chr9:100954694-100954744	GM12891	blood:	n/a
32	chr9:100955349-100955399	SK-N-SH_RA	brain:	n/a
33	chr9:100955349-100955399	Hela-S3	cervix:	n/a
34	chr9:100955349-100955399	IMR90	lung:	fetal
35	chr9:100955349-100955399	HCT-116	colon:	n/a
36	chr9:100954694-100954744	IMR90	lung:	fetal
37	chr9:100954694-100954744	T-47D	breast:	n/a
38	chr9:100954694-100954744	HRPEpiC	eye:	n/a
39	chr9:100954694-100954744	PANC-1	pancreas:	n/a
40	chr9:100954694-100954744	HRCEpiC	kidney:	n/a
41	chr9:100955349-100955399	ECC-1	luminal epithelium:	n/a
42	chr9:100955349-100955399	ovcar-3	ovarian:	n/a
43	chr9:100955349-100955399	H1-hESC	embryonic stem cell:	embryo
44	chr9:100954694-100954744	HIPEpiC	eye:	n/a
45	chr9:100955349-100955399	ProgFib	skin:	n/a
46	chr9:100955349-100955399	GM06990	blood:	n/a
47	chr9:100954694-100954744	Jurkat	blood:	n/a
48	chr9:100954694-100954744	BE2_C	brain:	n/a
49	chr9:100954694-100954744	HCF	heart:	n/a
50	chr9:100955349-100955399	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:100934419..100936711-chr9:100950978..100955014,5	MCF-7	breast:
2	chr9:100817834..100821135-chr9:100954026..100958556,6	MCF-7	breast:
3	chr9:100880445..100882322-chr9:100953652..100955695,2	K562	blood:
4	chr9:100907427..100908179-chr9:100955147..100955878,2	MCF-7	breast:
5	chr19:39897006..39897650-chr9:100954646..100955312,2	Hela-S3	cervix:
6	chr9:100955047..100955608-chr9:101537847..101538588,2	K562	blood:
7	chr9:100939196..100942358-chr9:100952088..100954820,4	MCF-7	breast:
8	chr9:100835251..100838541-chr9:100953348..100956508,6	MCF-7	breast:
9	chr9:100954775..100957184-chr9:101014893..101018488,3	K562	blood:
10	chr1:6844513..6845109-chr9:100955150..100955785,2	Hela-S3	cervix:
11	chr9:100881017..100881835-chr9:100955114..100955851,2	MCF-7	breast:
12	chr9:100955088..100957656-chr9:100968748..100970804,2	K562	blood:
13	chr9:100955096..100955755-chr9:101025700..101026542,2	MCF-7	breast:
14	chr9:100877974..100882322-chr9:100953652..100957621,5	K562	blood:
15	chr9:100881034..100881597-chr9:100954968..100955628,2	Hela-S3	cervix:
16	chr9:100746284..100748016-chr9:100953069..100955569,2	MCF-7	breast:
17	chr9:100952199..100954695-chr9:100957518..100959122,2	K562	blood:
18	chr9:100933577..100935693-chr9:100955515..100957092,2	MCF-7	breast:
19	chr9:100896828..100898898-chr9:100952325..100954210,2	K562	blood:
20	chr9:100883473..100884060-chr9:100955051..100955908,2	MCF-7	breast:
21	chr9:100880288..100886270-chr9:100953608..100957100,8	MCF-7	breast:
22	chr9:100919441..100922231-chr9:100955358..100957777,2	MCF-7	breast:
23	chr9:100955094..100957753-chr9:101010315..101013161,2	MCF-7	breast:
24	chr9:100951866..100957184-chr9:101014234..101020511,10	K562	blood:
25	chr9:100932527..100936703-chr9:100952110..100957364,6	MCF-7	breast:
26	chr9:100880793..100881841-chr9:100954446..100955221,3	MCF-7	breast:
27	chr9:100952914..100958060-chr9:101016344..101019894,9	MCF-7	breast:

Variant related genes	Relation type
CORO2A	TF binding region
CORO2A	CpG island
ENSG00000237436	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000106789	chromatin interactions
ENSG00000095383	chromatin interactions
ENSG00000095380	chromatin interactions
ENSG00000136938	chromatin interactions
ENSG00000106785	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73503030	chr9:100953990-100953991	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs137965398	chr9:100954019-100954020	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs532970389	chr9:100954041-100954042	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs7029397	chr9:100954055-100954056	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10985366	chr9:100954077-100954078	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535230351	chr9:100954129-100954130	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs374532010	chr9:100954160-100954161	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs187974844	chr9:100954241-100954242	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs568760013	chr9:100954246-100954247	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs546827321	chr9:100954270-100954271	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs376416026	chr9:100954281-100954282	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs567881125	chr9:100954305-100954306	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs537703644	chr9:100954354-100954355	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs372354083	chr9:100954412-100954413	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs28703824	chr9:100954429-100954430	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs74819986	chr9:100954430-100954431	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs577581296	chr9:100954472-100954473	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs540644275	chr9:100954485-100954486	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs553907175	chr9:100954508-100954509	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs574064658	chr9:100954575-100954576	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs28635946	chr9:100954582-100954583	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563023893	chr9:100954611-100954612	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs551068100	chr9:100954624-100954625	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs531950519	chr9:100954700-100954701	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs111241578	chr9:100954728-100954729	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs565597538	chr9:100954739-100954740	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs200590608	chr9:100954755-100954756	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs10689817	chr9:100954763-100954764	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs11281388	chr9:100954765-100954766	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs369041441	chr9:100954766-100954767	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs528001643	chr9:100954833-100954834	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs7468249	chr9:100954859-100954860	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs112047739	chr9:100954915-100954916	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs556003783	chr9:100954945-100954946	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs566384497	chr9:100954948-100954949	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs13290017	chr9:100954949-100954950	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs11345726	chr9:100954977-100954978	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs528982517	chr9:100954992-100954993	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs6478598	chr9:100955008-100955009	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs6478599	chr9:100955010-100955011	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs537668501	chr9:100955050-100955051	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs7033797	chr9:100955067-100955068	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs10985367	chr9:100955135-100955136	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116643417	chr9:100955243-100955244	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs80227567	chr9:100955244-100955245	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs573952288	chr9:100955349-100955350	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs192184912	chr9:100955390-100955391	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs556709921	chr9:100955411-100955412	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs62575630	chr9:100955442-100955443	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545593276	chr9:100955520-100955521	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100931800-100954400	Weak transcription	Right Atrium	heart
2	chr9:100934400-100954000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:100941800-100954000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:100948400-100954000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr9:100949200-100954200	Weak transcription	Small Intestine	intestine
6	chr9:100949600-100954000	Enhancers	Fetal Thymus	thymus
7	chr9:100951400-100954000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr9:100952000-100954000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:100952400-100954000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr9:100952400-100954200	Enhancers	Liver	Liver
11	chr9:100952600-100954000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr9:100952600-100954000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr9:100952600-100954400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr9:100952800-100954000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:100952800-100954000	Enhancers	Hela-S3	cervix
16	chr9:100953000-100954000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:100953000-100954000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr9:100953000-100954200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:100953000-100954200	Flanking Active TSS	NHEK	skin
20	chr9:100953200-100954000	Enhancers	Primary B cells from cord blood	blood
21	chr9:100953200-100954000	Enhancers	Primary hematopoietic stem cells	blood
22	chr9:100953200-100954000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr9:100953200-100954200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:100953200-100954400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr9:100953200-100954600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:100953200-100955400	Active TSS	Esophagus	oesophagus
27	chr9:100953200-100955600	Active TSS	Gastric	stomach
28	chr9:100953400-100954000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:100953400-100954000	Active TSS	Fetal Intestine Large	intestine
30	chr9:100953400-100954000	Enhancers	Placenta	Placenta
31	chr9:100953400-100954200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:100953400-100954800	Flanking Active TSS	Colonic Mucosa	Colon
33	chr9:100953600-100954000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr9:100953600-100954000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:100953600-100954000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:100953600-100954000	Flanking Active TSS	Stomach Mucosa	stomach
37	chr9:100953600-100954200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr9:100953600-100954200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr9:100953600-100954200	Active TSS	Lung	lung
40	chr9:100953600-100954200	Enhancers	Spleen	Spleen
41	chr9:100953600-100954400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr9:100953600-100954400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr9:100953600-100954400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
44	chr9:100953600-100954400	Flanking Active TSS	K562	blood
45	chr9:100953600-100954600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr9:100953600-100954600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr9:100953600-100954600	Enhancers	Fetal Brain Male	brain
48	chr9:100953600-100954800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr9:100953600-100955400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:100953600-100955600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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