Variant report

Variant	esv3407698
Chromosome Location	chr11:66058401-66060949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:490)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:66059433-66059860	H1-hESC	embryonic stem cell:	n/a	chr11:66059805-66059819 chr11:66059807-66059818
2	BCL3	chr11:66060334-66060683	A549	lung:	n/a	n/a
3	BHLHE40	chr11:66060189-66060701	HepG2	liver:	n/a	n/a
4	BHLHE40	chr11:66060249-66060579	GM12878	blood:	n/a	n/a
5	BHLHE40	chr11:66060240-66060618	K562	blood:	n/a	n/a
6	CREB1	chr11:66059384-66059949	A549	lung:	n/a	chr11:66059671-66059684 chr11:66059806-66059819
7	CREB1	chr11:66059343-66060115	H1-hESC	embryonic stem cell:	n/a	chr11:66059671-66059684 chr11:66059806-66059819
8	CREB1	chr11:66059472-66060012	H1-hESC	embryonic stem cell:	n/a	chr11:66059671-66059684 chr11:66059806-66059819
9	CTCF	chr11:66060454-66060471	GM19239	blood:	n/a	n/a
10	EGR1	chr11:66060045-66060288	K562	blood:	n/a	chr11:66060193-66060204
11	EGR1	chr11:66059627-66059918	K562	blood:	n/a	chr11:66059862-66059875 chr11:66059862-66059872
12	EGR1	chr11:66059711-66059912	K562	blood:	n/a	chr11:66059862-66059875 chr11:66059862-66059872
13	HCFC1	chr11:66054469-66058486	Hela-S3	cervix:	n/a	n/a
14	HMGN3	chr11:66059891-66059996	K562	blood:	n/a	n/a
15	JUN	chr11:66059651-66059847	H1-hESC	embryonic stem cell:	n/a	chr11:66059669-66059682 chr11:66059808-66059817 chr11:66059673-66059682
16	JUN	chr11:66059641-66059691	HepG2	liver:	n/a	chr11:66059669-66059682 chr11:66059673-66059682
17	JUND	chr11:66059525-66059783	H1-hESC	embryonic stem cell:	n/a	chr11:66059673-66059682 chr11:66059572-66059581
18	JUND	chr11:66059499-66059849	HepG2	liver:	n/a	chr11:66059808-66059817 chr11:66059673-66059682 chr11:66059572-66059581
19	JUND	chr11:66059489-66059869	H1-hESC	embryonic stem cell:	n/a	chr11:66059808-66059817 chr11:66059673-66059682 chr11:66059572-66059581
20	MAX	chr11:66060366-66060573	NB4	blood:	n/a	n/a
21	MAX	chr11:66060417-66060458	HepG2	liver:	n/a	n/a
22	MAX	chr11:66060262-66060591	K562	blood:	n/a	n/a
23	MXI1	chr11:66054844-66061017	SK-N-SH	brain:	n/a	chr11:66060557-66060572
24	MYC	chr11:66060501-66060520	MCF-7	breast:	n/a	n/a
25	MYC	chr11:66060508-66060532	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr11:66060521-66060526	MCF-7	breast:	n/a	n/a
27	MYC	chr11:66060527-66060530	MCF-7	breast:	n/a	n/a
28	MYC	chr11:66060533-66060697	MCF-7	breast:	n/a	n/a
29	POLR2A	chr11:66059181-66059557	A549	lung:	n/a	n/a
30	POLR2A	chr11:66055102-66058883	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:66060613-66060620	MCF-7	breast:	n/a	n/a
32	POLR2A	chr11:66059395-66059480	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:66060506-66060538	MCF-7	breast:	n/a	n/a
34	POLR2A	chr11:66054040-66060816	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr11:66059211-66059609	HCT-116	colon:	n/a	n/a
36	POLR2A	chr11:66059754-66060681	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr11:66059296-66059456	A549	lung:	n/a	n/a
38	POLR2A	chr11:66060539-66060541	MCF-7	breast:	n/a	n/a
39	POLR2A	chr11:66059295-66059497	A549	lung:	n/a	n/a
40	POLR2A	chr11:66058925-66058948	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:66059223-66059526	HCT-116	colon:	n/a	n/a
42	POLR2A	chr11:66058781-66059682	H1-neurons	neurons:	n/a	n/a
43	POLR2A	chr11:66059489-66059515	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:66058855-66058915	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:66059340-66059374	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr11:66060556-66060599	MCF-7	breast:	n/a	n/a
47	POLR2A	chr11:66060371-66060607	MCF-7	breast:	n/a	n/a
48	RCOR1	chr11:66058825-66058896	K562	blood:	n/a	n/a
49	REST	chr11:66058880-66059195	SK-N-SH	brain:	n/a	n/a
50	REST	chr11:66058477-66058802	K562	blood:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66059129-66059179	Jurkat	blood:	n/a
2	chr11:66060589-66060639	HepG2	liver:	n/a
3	chr11:66059129-66059179	Jurkat	blood:	n/a
4	chr11:66060589-66060639	HepG2	liver:	n/a
5	chr11:66059798-66059848	CMK	blood:	n/a
6	chr11:66059599-66059649	K562	blood:	n/a
7	chr11:66059064-66059114	HIPEpiC	eye:	n/a
8	chr11:66059129-66059179	HRCEpiC	kidney:	n/a
9	chr11:66059129-66059179	PrEC	prostate:	n/a
10	chr11:66059129-66059179	GM19239	blood:	n/a
11	chr11:66060589-66060639	NH-A	brain:	n/a
12	chr11:66059129-66059179	HUVEC	blood vessel:	n/a
13	chr11:66059695-66059745	A549	lung:	n/a
14	chr11:66059798-66059848	MCF10A-Er-Src	breast:	n/a
15	chr11:66059695-66059745	AG09319	gingival:	n/a
16	chr11:66059695-66059745	HMEC	breast:	n/a
17	chr11:66060589-66060639	NHDF-neo	bronchial:	n/a
18	chr11:66059156-66059206	SAEC	small airway:	n/a
19	chr11:66060589-66060639	AG09309	skin:	n/a
20	chr11:66059156-66059206	HEEpiC	esophagus:	n/a
21	chr11:66059599-66059649	NB4	blood:	n/a
22	chr11:66059164-66059214	Jurkat	blood:	n/a
23	chr11:66060589-66060639	AG09319	gingival:	n/a
24	chr11:66059064-66059114	BE2_C	brain:	n/a
25	chr11:66059695-66059745	HCF	heart:	n/a
26	chr11:66059695-66059745	GM06990	blood:	n/a
27	chr11:66060589-66060639	ProgFib	skin:	n/a
28	chr11:66059064-66059114	RPTEC	kidney:	n/a
29	chr11:66059164-66059214	ovcar-3	ovarian:	n/a
30	chr11:66059129-66059179	HMEC	breast:	n/a
31	chr11:66059164-66059214	AG09309	skin:	n/a
32	chr11:66059164-66059214	AoSMC	blood vessel:	n/a
33	chr11:66059156-66059206	SK-N-MC	brain:	n/a
34	chr11:66060589-66060639	SK-N-MC	brain:	n/a
35	chr11:66060589-66060639	BE2_C	brain:	n/a
36	chr11:66059164-66059214	T-47D	breast:	n/a
37	chr11:66059599-66059649	AG04449	skin:	fetal
38	chr11:66059064-66059114	GM12892	blood:	n/a
39	chr11:66059164-66059214	SKMC	muscle:	n/a
40	chr11:66059599-66059649	BE2_C	brain:	n/a
41	chr11:66059798-66059848	HNPCEpiC	eye:	n/a
42	chr11:66059798-66059848	AG09309	skin:	n/a
43	chr11:66059798-66059848	SKMC	muscle:	n/a
44	chr11:66060589-66060639	AG04450	lung:	fetal
45	chr11:66059695-66059745	HepG2	liver:	n/a
46	chr11:66059599-66059649	HCT-116	colon:	n/a
47	chr11:66059064-66059114	H1-hESC	embryonic stem cell:	embryo
48	chr11:66059164-66059214	NHDF-neo	bronchial:	n/a
49	chr11:66059129-66059179	HEK293	kidney:	embryo
50	chr11:66059064-66059114	NT2-D1	testis:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66056885..66058669-chr11:66106452..66107991,2	K562	blood:
2	chr11:66055397..66059696-chr11:66135983..66139913,5	K562	blood:
3	chr11:66056831..66061115-chr11:66109718..66114909,6	MCF-7	breast:
4	chr11:66034858..66038328-chr11:66053749..66060447,9	MCF-7	breast:
5	chr11:66054894..66059478-chr11:66060686..66065105,11	MCF-7	breast:
6	chr11:66053947..66059144-chr11:66077550..66083439,18	K562	blood:
7	chr11:66056386..66058686-chr11:66082623..66084625,3	MCF-7	breast:
8	chr11:66054859..66059696-chr11:66135983..66141726,7	K562	blood:

No data

Variant related genes	Relation type
YIF1A	TF binding region
TMEM151A	TF binding region
YIF1A	CpG island
TMEM151A	CpG island
ENSG00000174903	chromatin interactions
ENSG00000254762	chromatin interactions
ENSG00000174744	chromatin interactions
ENSG00000254458	chromatin interactions
ENSG00000174851	chromatin interactions
ENSG00000179292	chromatin interactions
ENSG00000174807	chromatin interactions
ENSG00000174669	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377055320	chr11:66058458-66058459	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs117175798	chr11:66058462-66058463	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs146770391	chr11:66058469-66058470	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs553220543	chr11:66058486-66058487	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs547968440	chr11:66058487-66058488	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs184143044	chr11:66058563-66058564	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs496438	chr11:66058612-66058613	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539321220	chr11:66058673-66058674	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs559322709	chr11:66058680-66058681	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs376081663	chr11:66058714-66058715	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs550021924	chr11:66058742-66058743	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs570166524	chr11:66058758-66058759	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs538632533	chr11:66058781-66058782	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs558957869	chr11:66058786-66058787	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs68130828	chr11:66058843-66058844	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs35592305	chr11:66058844-66058845	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs76346110	chr11:66058912-66058913	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs564828436	chr11:66058914-66058915	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs534613306	chr11:66058938-66058939	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs376045143	chr11:66058953-66058954	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs186615356	chr11:66058961-66058962	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs11227451	chr11:66059033-66059034	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs574316105	chr11:66059054-66059055	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs543082964	chr11:66059061-66059062	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs539554333	chr11:66059101-66059102	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs140223079	chr11:66059104-66059105	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs11227452	chr11:66059105-66059106	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs112089750	chr11:66059148-66059149	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs527939460	chr11:66059165-66059166	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs541766031	chr11:66059170-66059171	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs561431805	chr11:66059176-66059177	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs530300940	chr11:66059199-66059200	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs115512438	chr11:66059209-66059210	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs570048448	chr11:66059349-66059350	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs143463479	chr11:66059425-66059426	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs532681971	chr11:66059494-66059495	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs552250699	chr11:66059504-66059505	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs565739401	chr11:66059564-66059565	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs138823111	chr11:66059570-66059571	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs534577479	chr11:66059575-66059576	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs12795582	chr11:66059610-66059611	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs12795591	chr11:66059628-66059629	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs150934757	chr11:66059642-66059643	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs372753220	chr11:66059742-66059743	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs536826198	chr11:66059761-66059762	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs6591210	chr11:66059782-66059783	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs576821381	chr11:66059798-66059799	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs545885674	chr11:66059831-66059832	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs552973153	chr11:66059844-66059845	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs557647536	chr11:66059850-66059851	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	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
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	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
Anaplastic thyroid cancer	18753363	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	22522925	CNVD

Chromatin state (count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66056000-66061800	Active TSS	Brain Angular Gyrus	brain
2	chr11:66057000-66058800	Bivalent Enhancer	Fetal Brain Male	brain
3	chr11:66057200-66058800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
4	chr11:66057400-66059000	Weak transcription	Aorta	Aorta
5	chr11:66057600-66058600	Enhancers	Fetal Intestine Large	intestine
6	chr11:66057600-66058600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr11:66057600-66058800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr11:66057600-66058800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:66057600-66058800	Enhancers	Gastric	stomach
10	chr11:66057600-66059000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:66057600-66059000	Enhancers	Right Ventricle	heart
12	chr11:66057800-66058800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:66057800-66059000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
14	chr11:66057800-66059000	Bivalent Enhancer	Fetal Intestine Small	intestine
15	chr11:66057800-66059000	Weak transcription	Lung	lung
16	chr11:66057800-66059200	Weak transcription	Ovary	ovary
17	chr11:66058000-66058800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:66058000-66059000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:66058000-66059000	Weak transcription	Esophagus	oesophagus
20	chr11:66058000-66059000	Weak transcription	Left Ventricle	heart
21	chr11:66058000-66059000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:66058000-66059000	Weak transcription	Right Atrium	heart
23	chr11:66058200-66058600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:66058200-66058600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:66058200-66058600	Weak transcription	Pancreas	Pancrea
26	chr11:66058200-66058600	Weak transcription	A549	lung
27	chr11:66058200-66058800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr11:66058200-66058800	Bivalent Enhancer	HepG2	liver
29	chr11:66058200-66059400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:66058400-66058600	Active TSS	Brain Anterior Caudate	brain
31	chr11:66058400-66058600	Active TSS	Brain Cingulate Gyrus	brain
32	chr11:66058400-66058800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:66058400-66058800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:66058400-66058800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:66058400-66058800	Active TSS	Brain Hippocampus Middle	brain
36	chr11:66058400-66059200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:66058400-66059400	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr11:66058400-66059800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:66058400-66060200	Active TSS	Brain Substantia Nigra	brain
40	chr11:66058400-66060400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr11:66058400-66060600	Weak transcription	Hela-S3	cervix
42	chr11:66058600-66058800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:66058600-66058800	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr11:66058600-66058800	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr11:66058600-66058800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr11:66058600-66059000	Bivalent Enhancer	Fetal Intestine Large	intestine
47	chr11:66058600-66059000	Enhancers	Pancreas	Pancrea
48	chr11:66058600-66059000	Enhancers	A549	lung
49	chr11:66058600-66059800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:66058600-66059800	Bivalent Enhancer	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links