Variant report

Variant	esv3352142
Chromosome Location	chr11:67396776-67398924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1077)
CpG islands
(count:488)
Chromatin interactive
region (count:55)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1077 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:67396781-67397064	K562	blood:	n/a	n/a
2	ARID3A	chr11:67398001-67398287	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:67398130-67398331	K562	blood:	n/a	n/a
4	ATF2	chr11:67396642-67397138	GM12878	blood:	n/a	n/a
5	ATF2	chr11:67397854-67398940	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:67396610-67397230	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:67394920-67397339	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr11:67397984-67398868	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr11:67396762-67397571	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr11:67397967-67398380	K562	blood:	n/a	n/a
11	BACH1	chr11:67396746-67397159	K562	blood:	n/a	n/a
12	BACH1	chr11:67397855-67398261	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL3	chr11:67397817-67398486	A549	lung:	n/a	chr11:67398256-67398265 chr11:67398089-67398102
14	BCLAF1	chr11:67397838-67398318	GM12878	blood:	n/a	chr11:67398256-67398265 chr11:67398089-67398102
15	BCLAF1	chr11:67396698-67397206	GM12878	blood:	n/a	n/a
16	BCLAF1	chr11:67396581-67397187	GM12878	blood:	n/a	chr11:67396585-67396598
17	BHLHE40	chr11:67396711-67397444	GM12878	blood:	n/a	chr11:67396987-67397003 chr11:67396878-67396894
18	BHLHE40	chr11:67396751-67397277	HepG2	liver:	n/a	chr11:67396987-67397003 chr11:67396878-67396894
19	BHLHE40	chr11:67397944-67398448	K562	blood:	n/a	n/a
20	BHLHE40	chr11:67397941-67398309	GM12878	blood:	n/a	n/a
21	BHLHE40	chr11:67396792-67397431	K562	blood:	n/a	chr11:67396987-67397003 chr11:67396878-67396894
22	BRCA1	chr11:67397884-67398061	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr11:67396773-67397240	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr11:67397956-67398351	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr11:67396947-67397168	GM12878	blood:	n/a	n/a
26	CBX3	chr11:67397773-67398702	K562	blood:	n/a	n/a
27	CBX3	chr11:67396660-67397551	K562	blood:	n/a	n/a
28	CBX3	chr11:67396721-67397060	K562	blood:	n/a	n/a
29	CCNT2	chr11:67396642-67398557	K562	blood:	n/a	chr11:67397851-67397860
30	CEBPB	chr11:67396702-67397178	GM12878	blood:	n/a	n/a
31	CEBPB	chr11:67396786-67396972	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr11:67396871-67397042	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPD	chr11:67397272-67397534	HepG2	liver:	n/a	n/a
34	CEBPD	chr11:67397791-67398102	HepG2	liver:	n/a	n/a
35	CHD1	chr11:67396915-67396932	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr11:67396733-67397410	GM12878	blood:	n/a	n/a
37	CHD2	chr11:67397287-67397532	HepG2	liver:	n/a	n/a
38	CHD2	chr11:67396952-67397065	HepG2	liver:	n/a	n/a
39	CHD2	chr11:67394547-67397648	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr11:67396772-67398412	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr11:67396757-67397460	GM12878	blood:	n/a	n/a
42	CHD2	chr11:67397870-67398567	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr11:67397908-67398397	HepG2	liver:	n/a	n/a
44	CHD2	chr11:67397929-67398341	GM12878	blood:	n/a	n/a
45	CHD2	chr11:67395974-67398733	K562	blood:	n/a	n/a
46	CREB1	chr11:67396714-67398507	K562	blood:	n/a	n/a
47	CREB1	chr11:67396707-67397747	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr11:67397080-67397723	A549	lung:	n/a	n/a
49	CREB1	chr11:67396696-67397318	GM12878	blood:	n/a	n/a
50	CREB1	chr11:67396410-67398524	H1-hESC	embryonic stem cell:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67397920-67397970	GM12878	blood:	n/a
2	chr11:67398026-67398076	BE2_C	brain:	n/a
3	chr11:67397584-67397634	U87	brain:	n/a
4	chr11:67398435-67398485	U87	brain:	n/a
5	chr11:67397584-67397634	H1-hESC	embryonic stem cell:	embryo
6	chr11:67397595-67397645	Hepatocyte	liver:	n/a
7	chr11:67398026-67398076	AoSMC	blood vessel:	n/a
8	chr11:67397920-67397970	SK-N-SH	brain:	n/a
9	chr11:67398826-67398876	HepG2	liver:	n/a
10	chr11:67396845-67396895	AG09309	skin:	n/a
11	chr11:67398026-67398076	HRE	kidney:	n/a
12	chr11:67397595-67397645	HepG2	liver:	n/a
13	chr11:67397414-67397464	U87	brain:	n/a
14	chr11:67396845-67396895	IMR90	lung:	fetal
15	chr11:67398026-67398076	IMR90	lung:	fetal
16	chr11:67398826-67398876	HIPEpiC	eye:	n/a
17	chr11:67397414-67397464	Hepatocyte	liver:	n/a
18	chr11:67398435-67398485	HCM	heart:	n/a
19	chr11:67398026-67398076	LNCaP	prostate:	n/a
20	chr11:67398026-67398076	HRCEpiC	kidney:	n/a
21	chr11:67398435-67398485	HUVEC	blood vessel:	n/a
22	chr11:67397584-67397634	BJ	skin:	n/a
23	chr11:67398026-67398076	HL-60	blood:	n/a
24	chr11:67398435-67398485	PFSK-1	brain:	n/a
25	chr11:67397414-67397464	GM12891	blood:	n/a
26	chr11:67397414-67397464	MCF10A-Er-Src	breast:	n/a
27	chr11:67397920-67397970	HCF	heart:	n/a
28	chr11:67398435-67398485	HNPCEpiC	eye:	n/a
29	chr11:67397414-67397464	AG09309	skin:	n/a
30	chr11:67397920-67397970	Hela-S3	cervix:	n/a
31	chr11:67397414-67397464	HEEpiC	esophagus:	n/a
32	chr11:67397584-67397634	NHDF-neo	bronchial:	n/a
33	chr11:67398435-67398485	HepG2	liver:	n/a
34	chr11:67397920-67397970	HCPEpiC	choroid plexus:	n/a
35	chr11:67397414-67397464	A549	lung:	n/a
36	chr11:67397584-67397634	MCF-7	breast:	n/a
37	chr11:67398435-67398485	NB4	blood:	n/a
38	chr11:67397920-67397970	PrEC	prostate:	n/a
39	chr11:67398026-67398076	NH-A	brain:	n/a
40	chr11:67397414-67397464	HCT-116	colon:	n/a
41	chr11:67398026-67398076	HRPEpiC	eye:	n/a
42	chr11:67397414-67397464	GM19239	blood:	n/a
43	chr11:67396845-67396895	NHBE	bronchial:	n/a
44	chr11:67396845-67396895	Hela-S3	cervix:	n/a
45	chr11:67398435-67398485	HCF	heart:	n/a
46	chr11:67398826-67398876	HNPCEpiC	eye:	n/a
47	chr11:67398826-67398876	BE2_C	brain:	n/a
48	chr11:67397414-67397464	HL-60	blood:	n/a
49	chr11:67398435-67398485	HCPEpiC	choroid plexus:	n/a
50	chr11:67397595-67397645	MCF10A-Er-Src	breast:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:67308127..67309699-chr11:67395126..67397854,2	K562	blood:
2	chr11:67396434..67397233-chr11:67415377..67416192,2	MCF-7	breast:
3	chr11:67397443..67398199-chr17:45400750..45401429,2	Hela-S3	cervix:
4	chr11:67395020..67397974-chr11:67571574..67573157,2	MCF-7	breast:
5	chr11:67370584..67375680-chr11:67395595..67400853,11	MCF-7	breast:
6	chr11:66885940..66887950-chr11:67395860..67397869,2	K562	blood:
7	chr11:67397884..67398710-chr17:19656962..19657673,2	MCF-7	breast:
8	chr11:67397836..67398344-chr2:38978006..38978555,2	NB4	blood:
9	chr11:67353101..67355692-chr11:67397411..67399664,2	K562	blood:
10	chr11:67323486..67326096-chr11:67397731..67399515,2	K562	blood:
11	chr11:67377022..67387637-chr11:67394926..67400114,17	MCF-7	breast:
12	chr11:67397793..67398676-chr17:19669612..19670394,2	MCF-7	breast:
13	chr11:67395178..67397377-chr6:27100620..27102983,2	K562	blood:
14	chr11:67395494..67399201-chr11:67413492..67416311,3	K562	blood:
15	chr11:67140815..67142437-chr11:67396749..67399508,2	MCF-7	breast:
16	chr11:67397362..67397956-chr5:132201529..132202269,2	Hela-S3	cervix:
17	chr11:67397077..67399431-chr11:67436542..67439337,2	K562	blood:
18	chr11:67396168..67397948-chr11:67571471..67573438,2	K562	blood:
19	chr11:67348847..67353254-chr11:67396059..67399206,10	K562	blood:
20	chr11:67398077..67399002-chr17:19665643..19666146,2	MCF-7	breast:
21	chr11:67397976..67400551-chr11:67412070..67415515,3	MCF-7	breast:
22	chr11:67397170..67397676-chr2:64068288..64068862,2	Hela-S3	cervix:
23	chr11:67395852..67400432-chr11:67404620..67408941,6	K562	blood:
24	chr11:67371375..67376389-chr11:67395488..67399117,10	K562	blood:
25	chr11:67397789..67400149-chr11:67805854..67808193,2	MCF-7	breast:
26	chr11:67397769..67398453-chr11:67426771..67427553,2	K562	blood:
27	chr11:67397857..67399603-chr17:19654494..19656370,2	MCF-7	breast:
28	chr11:67248902..67250580-chr11:67397278..67399388,2	K562	blood:
29	chr11:67396324..67397202-chr11:67407117..67407748,3	MCF-7	breast:
30	chr11:67378665..67384491-chr11:67395408..67398335,5	MCF-7	breast:
31	chr11:67397681..67398229-chr16:4166464..4166983,2	Hela-S3	cervix:
32	chr11:67397400..67397954-chr3:57582306..57583072,2	Hela-S3	cervix:
33	chr11:67397311..67398283-chr9:98079612..98080233,2	NB4	blood:
34	chr11:67188329..67190078-chr11:67395497..67397471,2	K562	blood:
35	chr11:67396543..67400484-chr11:67414425..67419634,5	MCF-7	breast:
36	chr10:14920177..14922925-chr11:67396775..67398999,2	MCF-7	breast:
37	chr11:67372725..67386378-chr11:67392399..67400639,29	K562	blood:
38	chr11:67396956..67399904-chr11:67782060..67783739,2	K562	blood:
39	chr11:67157781..67159663-chr11:67396161..67398201,2	K562	blood:
40	chr11:67397074..67400069-chr11:67440700..67443508,3	K562	blood:
41	chr11:67373358..67378331-chr11:67393882..67398214,7	MCF-7	breast:
42	chr11:67396464..67397218-chr11:67465404..67466018,2	MCF-7	breast:
43	chr11:67397789..67398746-chr11:67415579..67416141,2	MCF-7	breast:
44	chr11:67225796..67227949-chr11:67395542..67397304,2	K562	blood:
45	chr11:67397312..67398034-chr14:23388440..23388999,2	NB4	blood:
46	chr11:67380957..67389846-chr11:67394173..67403228,21	K562	blood:
47	chr11:67397975..67398776-chr20:4666833..4667540,2	Hela-S3	cervix:
48	chr11:67396772..67397765-chr5:180236385..180237144,2	Hela-S3	cervix:
49	chr11:67396418..67397288-chr17:19669617..19670437,3	MCF-7	breast:
50	chr11:67140319..67142184-chr11:67395845..67397635,2	MCF-7	breast:

No data

Variant related genes	Relation type
NUDT8	TF binding region
ENSG00000255318	TF binding region
NUDT8	CpG island
ENSG00000255318	CpG island
ENSG00000167800	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000173020	chromatin interactions
ENSG00000152455	chromatin interactions
ENSG00000110719	chromatin interactions
ENSG00000167792	chromatin interactions
ENSG00000178852	chromatin interactions
ENSG00000110711	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000269913	chromatin interactions
ENSG00000263293	chromatin interactions
ENSG00000255119	chromatin interactions
ENSG00000172508	chromatin interactions
ENSG00000256514	chromatin interactions
ENSG00000168374	chromatin interactions
ENSG00000237054	chromatin interactions
ENSG00000132744	chromatin interactions
ENSG00000272853	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000006534	chromatin interactions
ENSG00000244152	chromatin interactions
ENSG00000175505	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000084207	chromatin interactions
ENSG00000173120	chromatin interactions
ENSG00000158169	chromatin interactions
ENSG00000172613	chromatin interactions
ENSG00000164405	chromatin interactions
ENSG00000184224	chromatin interactions
ENSG00000169764	chromatin interactions
ENSG00000132746	chromatin interactions
ENSG00000160172	chromatin interactions
ENSG00000171867	chromatin interactions
ENSG00000231793	chromatin interactions
ENSG00000164404	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532665860	chr11:67396778-67396779	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
2	rs531600873	chr11:67396793-67396794	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
3	rs551125930	chr11:67396796-67396797	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
4	rs569350500	chr11:67396814-67396815	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
5	rs568966289	chr11:67396828-67396829	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
6	rs536892257	chr11:67396858-67396859	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
7	rs555134118	chr11:67396871-67396872	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
8	rs113357548	chr11:67396892-67396893	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
9	rs534456608	chr11:67396924-67396925	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
10	rs192128332	chr11:67396961-67396962	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
11	rs147262698	chr11:67396987-67396988	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
12	rs112776815	chr11:67397003-67397004	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
13	rs544590083	chr11:67397005-67397006	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
14	rs12806870	chr11:67397107-67397108	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
15	rs112058491	chr11:67397122-67397123	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
16	rs556667775	chr11:67397123-67397124	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
17	rs574993931	chr11:67397135-67397136	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
18	rs542499120	chr11:67397166-67397167	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
19	rs374696299	chr11:67397186-67397187	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
20	rs561099507	chr11:67397193-67397194	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
21	rs528381170	chr11:67397196-67397197	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
22	rs200525526	chr11:67397206-67397207	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
23	rs367738376	chr11:67397212-67397213	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
24	rs17851655	chr11:67397251-67397252	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs148457808	chr11:67397290-67397291	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
26	rs368421441	chr11:67397292-67397293	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
27	rs34195815	chr11:67397294-67397295	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
28	rs563010514	chr11:67397397-67397398	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
29	rs530174939	chr11:67397551-67397552	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
30	rs548500678	chr11:67397571-67397572	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
31	rs78371233	chr11:67397668-67397669	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	mRNA abundance
32	rs7102670	chr11:67397675-67397676	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs7102800	chr11:67397732-67397733	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs12282749	chr11:67397733-67397734	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184674950	chr11:67397743-67397744	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
36	rs538295818	chr11:67397745-67397746	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
37	rs529826197	chr11:67397875-67397876	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
38	rs373464745	chr11:67397879-67397880	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
39	rs575006748	chr11:67397882-67397883	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
40	rs377336263	chr11:67397892-67397893	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
41	rs536300244	chr11:67397929-67397930	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
42	rs554492201	chr11:67397956-67397957	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
43	rs573024347	chr11:67397972-67397973	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
44	rs35362840	chr11:67398009-67398010	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
45	rs189561906	chr11:67398033-67398034	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
46	rs565223334	chr11:67398082-67398083	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
47	rs548769901	chr11:67398114-67398115	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
48	rs577199290	chr11:67398178-67398179	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
49	rs570169035	chr11:67398238-67398239	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
50	rs544624510	chr11:67398255-67398256	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67379600-67397000	Weak transcription	Aorta	Aorta
2	chr11:67382400-67396800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:67385400-67396800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:67389600-67396800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:67390600-67397000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:67390600-67397000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:67394800-67396800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:67395000-67397000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:67395400-67396800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:67395600-67396800	Enhancers	Gastric	stomach
11	chr11:67395600-67397200	Enhancers	Fetal Heart	heart
12	chr11:67395800-67396800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:67395800-67396800	Enhancers	Liver	Liver
14	chr11:67396000-67396800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:67396000-67396800	Flanking Active TSS	GM12878-XiMat	blood
16	chr11:67396000-67396800	Flanking Active TSS	HepG2	liver
17	chr11:67396000-67397000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:67396000-67397000	Enhancers	Fetal Thymus	thymus
19	chr11:67396000-67397200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:67396000-67398200	Active TSS	Hela-S3	cervix
21	chr11:67396000-67398800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr11:67396200-67396800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:67396200-67396800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:67396200-67396800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr11:67396200-67396800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:67396200-67396800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:67396200-67396800	Enhancers	Brain Hippocampus Middle	brain
28	chr11:67396200-67396800	Flanking Active TSS	Esophagus	oesophagus
29	chr11:67396200-67396800	Enhancers	Fetal Intestine Large	intestine
30	chr11:67396200-67396800	Enhancers	Fetal Muscle Trunk	muscle
31	chr11:67396200-67396800	Enhancers	Pancreas	Pancrea
32	chr11:67396200-67396800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr11:67396200-67397000	Enhancers	Primary B cells from cord blood	blood
34	chr11:67396200-67397000	Enhancers	Placenta	Placenta
35	chr11:67396200-67397200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr11:67396200-67397400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr11:67396400-67396800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr11:67396400-67396800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr11:67396400-67396800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr11:67396400-67396800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:67396400-67396800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr11:67396400-67396800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:67396400-67396800	Enhancers	Adipose Nuclei	Adipose
44	chr11:67396400-67396800	Enhancers	Brain Cingulate Gyrus	brain
45	chr11:67396400-67396800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr11:67396400-67396800	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr11:67396400-67396800	Enhancers	Fetal Muscle Leg	muscle
48	chr11:67396400-67396800	Weak transcription	Right Atrium	heart
49	chr11:67396400-67396800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr11:67396400-67396800	Flanking Active TSS	A549	lung

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