Variant report

Variant	esv1812708
Chromosome Location	chr11:67414492-67441553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1228)
CpG islands
(count:1220)
Chromatin interactive
region (count:54)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1228 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:67423810-67424166	K562	blood:	n/a	n/a
2	ARID3A	chr11:67425357-67425505	HepG2	liver:	n/a	n/a
3	ATF1	chr11:67427037-67427120	K562	blood:	n/a	n/a
4	ATF2	chr11:67423742-67424154	GM12878	blood:	n/a	n/a
5	ATF2	chr11:67426446-67427243	GM12878	blood:	n/a	n/a
6	ATF2	chr11:67424586-67425222	GM12878	blood:	n/a	n/a
7	ATF2	chr11:67414026-67414562	GM12878	blood:	n/a	n/a
8	ATF2	chr11:67416556-67417488	GM12878	blood:	n/a	n/a
9	ATF2	chr11:67423677-67424233	GM12878	blood:	n/a	n/a
10	ATF3	chr11:67440224-67440380	K562	blood:	n/a	n/a
11	ATF3	chr11:67426975-67427146	K562	blood:	n/a	n/a
12	BATF	chr11:67423810-67424059	GM12878	blood:	n/a	n/a
13	BATF	chr11:67426473-67427176	GM12878	blood:	n/a	n/a
14	BATF	chr11:67423795-67424140	GM12878	blood:	n/a	n/a
15	BATF	chr11:67424691-67424988	GM12878	blood:	n/a	n/a
16	BCL11A	chr11:67423797-67424088	GM12878	blood:	n/a	n/a
17	BCL11A	chr11:67426584-67427092	GM12878	blood:	n/a	n/a
18	BCL11A	chr11:67416654-67417245	GM12878	blood:	n/a	chr11:67416891-67416900
19	BCL3	chr11:67416602-67417626	GM12878	blood:	n/a	chr11:67416891-67416900
20	BCL3	chr11:67426232-67426878	GM12878	blood:	n/a	n/a
21	BCL3	chr11:67416629-67417679	GM12878	blood:	n/a	chr11:67416891-67416900
22	BCLAF1	chr11:67413948-67414537	GM12878	blood:	n/a	n/a
23	BCLAF1	chr11:67416501-67417143	GM12878	blood:	n/a	chr11:67416891-67416900
24	BCLAF1	chr11:67423770-67424144	GM12878	blood:	n/a	n/a
25	BCLAF1	chr11:67417791-67418254	GM12878	blood:	n/a	chr11:67418101-67418115
26	BCLAF1	chr11:67426250-67427158	GM12878	blood:	n/a	n/a
27	BHLHE40	chr11:67427008-67427224	GM12878	blood:	n/a	n/a
28	BHLHE40	chr11:67426561-67426652	HepG2	liver:	n/a	n/a
29	BHLHE40	chr11:67437130-67437820	HepG2	liver:	n/a	n/a
30	BHLHE40	chr11:67416730-67417113	GM12878	blood:	n/a	n/a
31	BHLHE40	chr11:67423822-67424151	K562	blood:	n/a	n/a
32	BHLHE40	chr11:67415669-67415776	GM12878	blood:	n/a	n/a
33	BHLHE40	chr11:67426503-67426711	GM12878	blood:	n/a	n/a
34	BHLHE40	chr11:67417215-67417294	K562	blood:	n/a	n/a
35	BRCA1	chr11:67427026-67427188	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr11:67417041-67417787	GM12878	blood:	n/a	n/a
37	BRCA1	chr11:67427050-67427074	HepG2	liver:	n/a	n/a
38	CBX3	chr11:67417207-67417601	K562	blood:	n/a	n/a
39	CBX3	chr11:67423730-67424208	K562	blood:	n/a	n/a
40	CBX3	chr11:67423757-67424283	HCT-116	colon:	n/a	n/a
41	CBX3	chr11:67423797-67424155	K562	blood:	n/a	n/a
42	CEBPB	chr11:67421192-67421494	K562	blood:	n/a	n/a
43	CEBPB	chr11:67426925-67427005	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr11:67426193-67427296	GM12878	blood:	n/a	n/a
45	CEBPB	chr11:67427009-67427034	HepG2	liver:	n/a	n/a
46	CEBPB	chr11:67421250-67421389	A549	lung:	n/a	n/a
47	CEBPB	chr11:67421161-67421493	K562	blood:	n/a	n/a
48	CEBPB	chr11:67421311-67421408	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr11:67415694-67415820	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr11:67416678-67417514	GM12878	blood:	n/a	n/a

(count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67418106-67418156	AG04449	skin:	fetal
2	chr11:67432882-67432932	HCT-116	colon:	n/a
3	chr11:67418140-67418190	HCT-116	colon:	n/a
4	chr11:67418315-67418365	H1-hESC	embryonic stem cell:	embryo
5	chr11:67418405-67418455	ProgFib	skin:	n/a
6	chr11:67418148-67418198	NB4	blood:	n/a
7	chr11:67418358-67418408	H1-hESC	embryonic stem cell:	embryo
8	chr11:67418106-67418156	MCF-7	breast:	n/a
9	chr11:67430315-67430365	IMR90	lung:	fetal
10	chr11:67433133-67433183	NH-A	brain:	n/a
11	chr11:67418106-67418156	A549	lung:	n/a
12	chr11:67432681-67432731	H1-hESC	embryonic stem cell:	embryo
13	chr11:67432882-67432932	HEK293	kidney:	embryo
14	chr11:67418106-67418156	GM12891	blood:	n/a
15	chr11:67432774-67432824	HMEC	breast:	n/a
16	chr11:67418045-67418095	HCT-116	colon:	n/a
17	chr11:67418358-67418408	HCT-116	colon:	n/a
18	chr11:67418310-67418360	HRCEpiC	kidney:	n/a
19	chr11:67435577-67435627	T-47D	breast:	n/a
20	chr11:67418365-67418415	NHDF-neo	bronchial:	n/a
21	chr11:67418213-67418263	HNPCEpiC	eye:	n/a
22	chr11:67418365-67418415	Hepatocyte	liver:	n/a
23	chr11:67418045-67418095	LNCaP	prostate:	n/a
24	chr11:67418106-67418156	GM19239	blood:	n/a
25	chr11:67433133-67433183	HCF	heart:	n/a
26	chr11:67433133-67433183	HCM	heart:	n/a
27	chr11:67418291-67418341	HepG2	liver:	n/a
28	chr11:67430315-67430365	Hela-S3	cervix:	n/a
29	chr11:67418106-67418156	IMR90	lung:	fetal
30	chr11:67433133-67433183	HEEpiC	esophagus:	n/a
31	chr11:67418315-67418365	NB4	blood:	n/a
32	chr11:67418140-67418190	NB4	blood:	n/a
33	chr11:67418140-67418190	HCF	heart:	n/a
34	chr11:67432882-67432932	AG10803	skin:	n/a
35	chr11:67418358-67418408	GM19239	blood:	n/a
36	chr11:67432681-67432731	PANC-1	pancreas:	n/a
37	chr11:67430315-67430365	RPTEC	kidney:	n/a
38	chr11:67418310-67418360	SKMC	muscle:	n/a
39	chr11:67418106-67418156	HUVEC	blood vessel:	n/a
40	chr11:67418310-67418360	HNPCEpiC	eye:	n/a
41	chr11:67418213-67418263	HUVEC	blood vessel:	n/a
42	chr11:67432957-67433007	LNCaP	prostate:	n/a
43	chr11:67418045-67418095	GM06990	blood:	n/a
44	chr11:67418148-67418198	HEK293	kidney:	embryo
45	chr11:67418213-67418263	HCPEpiC	choroid plexus:	n/a
46	chr11:67418365-67418415	PANC-1	pancreas:	n/a
47	chr11:67418405-67418455	SK-N-MC	brain:	n/a
48	chr11:67432681-67432731	PrEC	prostate:	n/a
49	chr11:67418358-67418408	PrEC	prostate:	n/a
50	chr11:67418358-67418408	HEK293	kidney:	embryo

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:67425726..67428744-chr17:41398687..41402666,9	K562	blood:
2	chr11:67380317..67383233-chr11:67433739..67435714,2	MCF-7	breast:
3	chr11:67434481..67439568-chr11:67439660..67443258,9	MCF-7	breast:
4	chr11:67415318..67416230-chr11:67426559..67427542,5	MCF-7	breast:
5	chr11:67425723..67428744-chr17:41380621..41383559,4	K562	blood:
6	chr11:67432916..67433633-chr11:67465565..67466086,2	MCF-7	breast:
7	chr11:67412966..67415782-chr11:67417103..67418705,2	K562	blood:
8	chr11:67397074..67400069-chr11:67440700..67443508,2	K562	blood:
9	chr11:67437911..67440480-chr11:67441652..67443889,5	MCF-7	breast:
10	chr11:67397789..67398746-chr11:67415579..67416141,2	MCF-7	breast:
11	chr11:67425721..67428725-chr17:41399041..41402589,7	MCF-7	breast:
12	chr11:67429651..67431642-chr11:67431970..67434764,2	K562	blood:
13	chr11:67404297..67409206-chr11:67410255..67415069,8	MCF-7	breast:
14	chr11:67425727..67427248-chr17:41398828..41400918,2	K562	blood:
15	chr11:67415991..67416960-chr11:67457830..67458791,2	MCF-7	breast:
16	chr11:67433386..67435111-chr11:67439487..67442786,3	MCF-7	breast:
17	chr11:67435965..67437552-chr11:67440638..67442252,2	MCF-7	breast:
18	chr11:67434481..67439568-chr11:67439660..67443258,9	MCF-7	breast:
19	chr11:67425726..67427246-chr17:41401152..41402666,2	K562	blood:
20	chr11:67405734..67407614-chr11:67428103..67431068,2	K562	blood:
21	chr11:67425744..67428721-chr17:41466582..41468263,2	MCF-7	breast:
22	chr11:67396434..67397233-chr11:67415377..67416192,2	MCF-7	breast:
23	chr11:67433386..67435111-chr11:67439487..67442786,3	MCF-7	breast:
24	chr11:67340062..67340769-chr11:67415307..67416088,2	MCF-7	breast:
25	chr11:67425701..67427757-chr11:67431024..67433445,2	MCF-7	breast:
26	chr11:67396543..67400484-chr11:67414425..67419634,5	MCF-7	breast:
27	chr11:67425721..67428747-chr17:41463798..41467959,9	K562	blood:
28	chr11:67397077..67399431-chr11:67436542..67439337,2	K562	blood:
29	chr11:67438405..67443993-chr11:67447780..67452157,7	MCF-7	breast:
30	chr11:67433174..67435037-chr11:67457178..67460056,2	MCF-7	breast:
31	chr11:67397074..67400069-chr11:67440700..67443508,3	K562	blood:
32	chr11:67415666..67416189-chr11:67426687..67427517,2	MCF-7	breast:
33	chr11:67429687..67430485-chr11:67458493..67459266,3	MCF-7	breast:
34	chr11:67396466..67401355-chr11:67423872..67428539,5	MCF-7	breast:
35	chr11:67396937..67399635-chr11:67425434..67426974,2	MCF-7	breast:
36	chr11:67415666..67416189-chr11:67426687..67427517,2	MCF-7	breast:
37	chr11:67429651..67432390-chr11:67432660..67434764,2	K562	blood:
38	chr11:67395494..67399201-chr11:67413492..67416311,3	K562	blood:
39	chr11:67434114..67434965-chr11:67458274..67458971,2	MCF-7	breast:
40	chr11:67427107..67431065-chr11:67433903..67437558,3	MCF-7	breast:
41	chr11:67396980..67398688-chr11:67437438..67439851,2	MCF-7	breast:
42	chr11:67395813..67399486-chr11:67427985..67432417,5	MCF-7	breast:
43	chr11:67412966..67415782-chr11:67417103..67418705,2	K562	blood:
44	chr11:67415337..67416268-chr11:67458366..67459257,5	MCF-7	breast:
45	chr11:67426769..67427539-chr11:67441749..67442355,2	MCF-7	breast:
46	chr11:67141089..67142722-chr11:67418799..67420711,2	K562	blood:
47	chr11:67425724..67427246-chr17:41400286..41402607,6	MCF-7	breast:
48	chr11:67425721..67428724-chr17:41380186..41382019,3	MCF-7	breast:
49	chr11:67275644..67277559-chr11:67415737..67417580,2	K562	blood:
50	chr11:67426277..67428919-chr11:67431785..67434280,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFV1-6	chr11:67429963-67430223	NONHSAT022460

No data

Variant related genes	Relation type
ALDH3B2	TF binding region
ENSG00000227834	TF binding region
ACY3	TF binding region
ALDH3B2	CpG island
ENSG00000227834	CpG island
ACY3	CpG island
ENSG00000132744	chromatin interactions
ENSG00000239559	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000175505	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000231793	chromatin interactions
ENSG00000132746	chromatin interactions
ENSG00000167797	chromatin interactions
ENSG00000167800	chromatin interactions

Extended variants
information (count: 1481 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1481 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs948445	chr11:67414492-67414493	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200922233	chr11:67414493-67414494	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs540176855	chr11:67414516-67414517	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs371426555	chr11:67414529-67414530	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs374689962	chr11:67414551-67414552	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs373699278	chr11:67414559-67414560	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs2509715	chr11:67414591-67414592	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532211313	chr11:67414603-67414604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs386754494	chr11:67414645-67414646	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs7108760	chr11:67414647-67414648	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs372622188	chr11:67414662-67414663	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs372276641	chr11:67414763-67414764	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs548550832	chr11:67414775-67414776	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs75354692	chr11:67414782-67414783	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs148285353	chr11:67414822-67414823	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs2514035	chr11:67414828-67414829	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs565804362	chr11:67414838-67414839	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs570880606	chr11:67414920-67414921	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs190710428	chr11:67414955-67414956	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs368214614	chr11:67414979-67414980	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs371939667	chr11:67414987-67414988	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs182253588	chr11:67414988-67414989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs556225865	chr11:67414992-67414993	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs536560394	chr11:67414996-67414997	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs574733600	chr11:67415008-67415009	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs187282641	chr11:67415026-67415027	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs554169358	chr11:67415027-67415028	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs572656219	chr11:67415028-67415029	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs539863221	chr11:67415037-67415038	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs2514036	chr11:67415054-67415055	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs577198990	chr11:67415108-67415109	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs2509716	chr11:67415136-67415137	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs540883989	chr11:67415150-67415151	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs115777389	chr11:67415163-67415164	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs529918934	chr11:67415183-67415184	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs548325060	chr11:67415188-67415189	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs566669406	chr11:67415208-67415209	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs554408635	chr11:67415212-67415213	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs141339224	chr11:67415214-67415215	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs373948069	chr11:67415215-67415216	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs574047086	chr11:67415238-67415239	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs116235786	chr11:67415279-67415280	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs554010265	chr11:67415288-67415289	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs190826884	chr11:67415318-67415319	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs183012360	chr11:67415319-67415320	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs115596420	chr11:67415376-67415377	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs150304467	chr11:67415378-67415379	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs535660572	chr11:67415400-67415401	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs185709299	chr11:67415424-67415425	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs375824915	chr11:67415431-67415432	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67398800-67418600	Weak transcription	Right Atrium	heart
2	chr11:67408000-67417000	Weak transcription	Gastric	stomach
3	chr11:67408200-67416400	Weak transcription	Stomach Mucosa	stomach
4	chr11:67409800-67417000	Weak transcription	HepG2	liver
5	chr11:67410400-67417000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:67410400-67417000	Weak transcription	Liver	Liver
7	chr11:67411600-67417000	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:67411800-67416000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:67411800-67417200	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:67411800-67417600	Enhancers	Pancreas	Pancrea
11	chr11:67411800-67419600	Enhancers	Primary B cells from cord blood	blood
12	chr11:67412200-67420600	Enhancers	Primary hematopoietic stem cells	blood
13	chr11:67412400-67416800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:67412400-67417800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:67412600-67417600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr11:67412800-67414600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:67412800-67418000	Enhancers	Spleen	Spleen
18	chr11:67413000-67417000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:67413000-67417600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:67413200-67417000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:67413400-67414600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr11:67413400-67414800	Flanking Active TSS	GM12878-XiMat	blood
23	chr11:67413400-67415000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr11:67413400-67417800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr11:67413600-67414600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:67413600-67414600	Enhancers	Esophagus	oesophagus
27	chr11:67413600-67414600	Genic enhancers	Fetal Intestine Large	intestine
28	chr11:67413600-67415200	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr11:67413600-67415200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr11:67413600-67415600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:67413600-67415800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:67413600-67416400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:67413600-67417400	Genic enhancers	Fetal Intestine Small	intestine
34	chr11:67413600-67417800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr11:67413600-67417800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr11:67413600-67418000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr11:67413800-67414600	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr11:67413800-67414600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr11:67413800-67414800	Enhancers	Primary T cells from cord blood	blood
40	chr11:67413800-67414800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:67413800-67415000	Enhancers	Small Intestine	intestine
42	chr11:67413800-67418000	Enhancers	Thymus	Thymus
43	chr11:67414000-67414600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr11:67414000-67414600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:67414000-67414600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr11:67414000-67417000	Weak transcription	Brain Substantia Nigra	brain
47	chr11:67414200-67414600	Flanking Active TSS	Colonic Mucosa	Colon
48	chr11:67414200-67414600	Bivalent Enhancer	Fetal Thymus	thymus
49	chr11:67414200-67416400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr11:67414200-67416600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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