Variant report

Variant	esv3390228
Chromosome Location	chr11:67396401-67399249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1093)
CpG islands
(count:553)
Chromatin interactive
region (count:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1093 , 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	chr11:67398001-67398287	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:67398130-67398331	K562	blood:	n/a	n/a
3	ARID3A	chr11:67396781-67397064	K562	blood:	n/a	n/a
4	ATF2	chr11:67397984-67398868	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr11:67394920-67397339	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:67397854-67398940	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:67396610-67397230	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr11:67396642-67397138	GM12878	blood:	n/a	n/a
9	BACH1	chr11:67396762-67397571	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr11:67397855-67398261	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr11:67396746-67397159	K562	blood:	n/a	n/a
12	BACH1	chr11:67397967-67398380	K562	blood:	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	chr11:67396581-67397187	GM12878	blood:	n/a	chr11:67396585-67396598
16	BCLAF1	chr11:67396698-67397206	GM12878	blood:	n/a	n/a
17	BHLHE40	chr11:67396751-67397277	HepG2	liver:	n/a	chr11:67396987-67397003 chr11:67396878-67396894
18	BHLHE40	chr11:67396792-67397431	K562	blood:	n/a	chr11:67396987-67397003 chr11:67396878-67396894
19	BHLHE40	chr11:67397944-67398448	K562	blood:	n/a	n/a
20	BHLHE40	chr11:67396711-67397444	GM12878	blood:	n/a	chr11:67396987-67397003 chr11:67396878-67396894
21	BHLHE40	chr11:67397941-67398309	GM12878	blood:	n/a	n/a
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	chr11:67396947-67397168	GM12878	blood:	n/a	n/a
25	BRCA1	chr11:67397956-67398351	H1-hESC	embryonic stem cell:	n/a	n/a
26	CBX3	chr11:67397773-67398702	K562	blood:	n/a	n/a
27	CBX3	chr11:67396721-67397060	K562	blood:	n/a	n/a
28	CBX3	chr11:67396660-67397551	K562	blood:	n/a	n/a
29	CCNT2	chr11:67396642-67398557	K562	blood:	n/a	chr11:67397851-67397860
30	CEBPB	chr11:67396786-67396972	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr11:67396871-67397042	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr11:67396702-67397178	GM12878	blood:	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	chr11:67396733-67397410	GM12878	blood:	n/a	n/a
36	CHD1	chr11:67396915-67396932	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr11:67397870-67398567	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr11:67397908-67398397	HepG2	liver:	n/a	n/a
39	CHD2	chr11:67395974-67398733	K562	blood:	n/a	n/a
40	CHD2	chr11:67396757-67397460	GM12878	blood:	n/a	n/a
41	CHD2	chr11:67396772-67398412	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr11:67394547-67397648	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr11:67396952-67397065	HepG2	liver:	n/a	n/a
44	CHD2	chr11:67397287-67397532	HepG2	liver:	n/a	n/a
45	CHD2	chr11:67397929-67398341	GM12878	blood:	n/a	n/a
46	CREB1	chr11:67397751-67398482	A549	lung:	n/a	n/a
47	CREB1	chr11:67397080-67397723	A549	lung:	n/a	n/a
48	CREB1	chr11:67396714-67398507	K562	blood:	n/a	n/a
49	CREB1	chr11:67396680-67397058	A549	lung:	n/a	n/a
50	CREB1	chr11:67396696-67397318	GM12878	blood:	n/a	n/a

(count:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67398826-67398876	HCM	heart:	n/a
2	chr11:67398826-67398876	HMEC	breast:	n/a
3	chr11:67398826-67398876	PrEC	prostate:	n/a
4	chr11:67398826-67398876	HEK293	kidney:	embryo
5	chr11:67398826-67398876	HCM	heart:	n/a
6	chr11:67398826-67398876	HMEC	breast:	n/a
7	chr11:67398826-67398876	PrEC	prostate:	n/a
8	chr11:67398826-67398876	HEK293	kidney:	embryo
9	chr11:67398026-67398076	K562	blood:	n/a
10	chr11:67397584-67397634	SKMC	muscle:	n/a
11	chr11:67398826-67398876	PANC-1	pancreas:	n/a
12	chr11:67399029-67399079	LNCaP	prostate:	n/a
13	chr11:67397920-67397970	HCM	heart:	n/a
14	chr11:67399029-67399079	Caco-2	colon:	n/a
15	chr11:67396845-67396895	HIPEpiC	eye:	n/a
16	chr11:67397414-67397464	GM12892	blood:	n/a
17	chr11:67397584-67397634	HRPEpiC	eye:	n/a
18	chr11:67396845-67396895	SK-N-MC	brain:	n/a
19	chr11:67399029-67399079	HRCEpiC	kidney:	n/a
20	chr11:67397584-67397634	HCPEpiC	choroid plexus:	n/a
21	chr11:67396845-67396895	RPTEC	kidney:	n/a
22	chr11:67399029-67399079	PFSK-1	brain:	n/a
23	chr11:67398026-67398076	HEEpiC	esophagus:	n/a
24	chr11:67398435-67398485	HL-60	blood:	n/a
25	chr11:67398435-67398485	HAEpiC	amniotic membrane:	n/a
26	chr11:67398826-67398876	A549	lung:	n/a
27	chr11:67396845-67396895	AG09309	skin:	n/a
28	chr11:67397414-67397464	AoSMC	blood vessel:	n/a
29	chr11:67397584-67397634	GM12878	blood:	n/a
30	chr11:67398826-67398876	Hela-S3	cervix:	n/a
31	chr11:67397414-67397464	HAEpiC	amniotic membrane:	n/a
32	chr11:67396845-67396895	PrEC	prostate:	n/a
33	chr11:67397595-67397645	AG09319	gingival:	n/a
34	chr11:67398826-67398876	BJ	skin:	n/a
35	chr11:67397414-67397464	U87	brain:	n/a
36	chr11:67397414-67397464	AG04449	skin:	fetal
37	chr11:67396845-67396895	GM19239	blood:	n/a
38	chr11:67397584-67397634	HIPEpiC	eye:	n/a
39	chr11:67397414-67397464	H1-hESC	embryonic stem cell:	embryo
40	chr11:67397595-67397645	LNCaP	prostate:	n/a
41	chr11:67397414-67397464	NT2-D1	testis:	n/a
42	chr11:67397414-67397464	IMR90	lung:	fetal
43	chr11:67399029-67399079	BE2_C	brain:	n/a
44	chr11:67398026-67398076	IMR90	lung:	fetal
45	chr11:67399029-67399079	HIPEpiC	eye:	n/a
46	chr11:67398826-67398876	AG10803	skin:	n/a
47	chr11:67399029-67399079	HepG2	liver:	n/a
48	chr11:67398826-67398876	GM12878	blood:	n/a
49	chr11:67397595-67397645	Hepatocyte	liver:	n/a
50	chr11:67397595-67397645	GM06990	blood:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:67396464..67397218-chr11:67465404..67466018,2	MCF-7	breast:
2	chr11:67396772..67397765-chr5:180236385..180237144,2	Hela-S3	cervix:
3	chr11:67397975..67398776-chr20:4666833..4667540,2	Hela-S3	cervix:
4	chr11:67377022..67387637-chr11:67394926..67400114,17	MCF-7	breast:
5	chr11:67395852..67400432-chr11:67404620..67408941,6	K562	blood:
6	chr11:67248902..67250580-chr11:67397278..67399388,2	K562	blood:
7	chr11:67396980..67398688-chr11:67437438..67439851,2	MCF-7	breast:
8	chr11:67397681..67398229-chr16:4166464..4166983,2	Hela-S3	cervix:
9	chr11:67344360..67352769-chr11:67395394..67400721,12	K562	blood:
10	chr11:67397170..67397676-chr2:64068288..64068862,2	Hela-S3	cervix:
11	chr11:67397836..67398344-chr2:38978006..38978555,2	NB4	blood:
12	chr11:67370584..67375680-chr11:67395595..67400853,11	MCF-7	breast:
13	chr11:67397443..67398199-chr17:45400750..45401429,2	Hela-S3	cervix:
14	chr11:67140815..67142437-chr11:67396749..67399508,2	MCF-7	breast:
15	chr11:67381470..67382086-chr11:67396612..67397307,2	MCF-7	breast:
16	chr11:67225796..67227949-chr11:67395542..67397304,2	K562	blood:
17	chr11:67372725..67386378-chr11:67392399..67400639,29	K562	blood:
18	chr11:67396168..67397948-chr11:67571471..67573438,2	K562	blood:
19	chr11:67398077..67399002-chr17:19665643..19666146,2	MCF-7	breast:
20	chr11:67397077..67399431-chr11:67436542..67439337,2	K562	blood:
21	chr11:67397074..67400069-chr11:67440700..67443508,2	K562	blood:
22	chr11:67397793..67398676-chr17:19669612..19670394,2	MCF-7	breast:
23	chr11:67373358..67378331-chr11:67393882..67398214,7	MCF-7	breast:
24	chr11:67395494..67399201-chr11:67413492..67416311,3	K562	blood:
25	chr11:67397789..67400149-chr11:67805854..67808193,2	MCF-7	breast:
26	chr11:67308127..67309699-chr11:67395126..67397854,2	K562	blood:
27	chr11:67397400..67397954-chr3:57582306..57583072,2	Hela-S3	cervix:
28	chr11:67395020..67397974-chr11:67571574..67573157,2	MCF-7	breast:
29	chr11:67353101..67355692-chr11:67397411..67399664,2	K562	blood:
30	chr10:14920177..14922925-chr11:67396775..67398999,2	MCF-7	breast:
31	chr11:67188329..67190078-chr11:67395497..67397471,2	K562	blood:
32	chr11:67348847..67353254-chr11:67396059..67399206,10	K562	blood:
33	chr11:67387088..67388654-chr11:67395149..67396720,2	K562	blood:
34	chr11:67157781..67159663-chr11:67396161..67398201,2	K562	blood:
35	chr11:67397362..67397956-chr5:132201529..132202269,2	Hela-S3	cervix:
36	chr11:67397789..67398746-chr11:67415579..67416141,2	MCF-7	breast:
37	chr11:67397311..67398283-chr9:98079612..98080233,2	NB4	blood:
38	chr11:67397857..67399603-chr17:19654494..19656370,2	MCF-7	breast:
39	chr11:67397769..67398453-chr11:67426771..67427553,2	K562	blood:
40	chr11:67323486..67326096-chr11:67397731..67399515,2	K562	blood:
41	chr11:67397976..67400551-chr11:67412070..67415515,3	MCF-7	breast:
42	chr11:67380957..67389846-chr11:67394173..67403228,21	K562	blood:
43	chr11:66885940..66887950-chr11:67395860..67397869,2	K562	blood:
44	chr11:67378665..67384491-chr11:67395408..67398335,5	MCF-7	breast:
45	chr11:67046781..67048782-chr11:67395418..67397975,2	K562	blood:
46	chr11:67396434..67397233-chr11:67415377..67416192,2	MCF-7	breast:
47	chr11:67396418..67397288-chr17:19669617..19670437,3	MCF-7	breast:
48	chr11:67397884..67398710-chr17:19656962..19657673,2	MCF-7	breast:
49	chr11:67371375..67376389-chr11:67395488..67399117,10	K562	blood:
50	chr11:67397312..67398034-chr14:23388440..23388999,2	NB4	blood:

No data

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

Extended variants
information (count: 112 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202112218	chr11:67396411-67396412	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
2	rs199685467	chr11:67396431-67396432	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
3	rs569437238	chr11:67396433-67396434	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
4	rs201240001	chr11:67396449-67396450	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
5	rs554989801	chr11:67396458-67396459	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
6	rs368280015	chr11:67396474-67396475	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
7	rs573477512	chr11:67396475-67396476	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
8	rs371911811	chr11:67396483-67396484	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
9	rs138271599	chr11:67396492-67396493	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
10	rs376182284	chr11:67396513-67396514	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
11	rs367869091	chr11:67396534-67396535	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
12	rs369433501	chr11:67396537-67396538	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
13	rs187725382	chr11:67396545-67396546	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
14	rs371649269	chr11:67396547-67396548	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs112849252	chr11:67396554-67396555	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs199611332	chr11:67396568-67396569	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs117077780	chr11:67396589-67396590	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
18	rs112158573	chr11:67396591-67396592	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs544677667	chr11:67396593-67396594	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs111733370	chr11:67396595-67396596	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs563158403	chr11:67396632-67396633	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
22	rs140696504	chr11:67396636-67396637	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
23	rs530654408	chr11:67396639-67396640	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
24	rs542391952	chr11:67396673-67396674	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs561077067	chr11:67396723-67396724	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
26	rs528379981	chr11:67396732-67396733	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
27	rs546689836	chr11:67396756-67396757	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
28	rs560772834	chr11:67396773-67396774	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:540 , 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	chr11:67385400-67396600	Weak transcription	Brain Substantia Nigra	brain
4	chr11:67385400-67396800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:67389600-67396600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:67389600-67396800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:67390600-67396600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:67390600-67397000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:67390600-67397000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:67391600-67396600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:67394600-67396600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:67394800-67396800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:67395000-67397000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:67395200-67396600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:67395200-67396600	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr11:67395400-67396600	Enhancers	Left Ventricle	heart
17	chr11:67395400-67396800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr11:67395600-67396800	Enhancers	Gastric	stomach
19	chr11:67395600-67397200	Enhancers	Fetal Heart	heart
20	chr11:67395800-67396600	Enhancers	Stomach Mucosa	stomach
21	chr11:67395800-67396600	Enhancers	Stomach Smooth Muscle	stomach
22	chr11:67395800-67396800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:67395800-67396800	Enhancers	Liver	Liver
24	chr11:67396000-67396600	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr11:67396000-67396600	Enhancers	Right Ventricle	heart
26	chr11:67396000-67396800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:67396000-67396800	Flanking Active TSS	GM12878-XiMat	blood
28	chr11:67396000-67396800	Flanking Active TSS	HepG2	liver
29	chr11:67396000-67397000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:67396000-67397000	Enhancers	Fetal Thymus	thymus
31	chr11:67396000-67397200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:67396000-67398200	Active TSS	Hela-S3	cervix
33	chr11:67396000-67398800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr11:67396200-67396600	Enhancers	Primary B cells from peripheral blood	blood
35	chr11:67396200-67396600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:67396200-67396600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:67396200-67396600	Enhancers	Brain Germinal Matrix	brain
38	chr11:67396200-67396600	Enhancers	Colon Smooth Muscle	Colon
39	chr11:67396200-67396600	Genic enhancers	Fetal Intestine Small	intestine
40	chr11:67396200-67396600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:67396200-67396600	Enhancers	NHEK	skin
42	chr11:67396200-67396800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:67396200-67396800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:67396200-67396800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr11:67396200-67396800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:67396200-67396800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:67396200-67396800	Enhancers	Brain Hippocampus Middle	brain
48	chr11:67396200-67396800	Flanking Active TSS	Esophagus	oesophagus
49	chr11:67396200-67396800	Enhancers	Fetal Intestine Large	intestine
50	chr11:67396200-67396800	Enhancers	Fetal Muscle Trunk	muscle

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