Variant report

Variant	rs2611092
Chromosome Location	chr11:34265632-34265633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr11:34265391-34266381	GM12878	blood:	n/a	chr11:34265392-34265401
2	NR3C1	chr11:34264848-34265728	A549	lung:	n/a	chr11:34265672-34265679 chr11:34265394-34265403 chr11:34265393-34265402
3	ZBTB33	chr11:34265144-34265647	A549	lung:	n/a	n/a
4	MAZ	chr11:34265551-34266142	GM12878	blood:	n/a	chr11:34265951-34265967
5	SMARCC1	chr11:34264966-34266087	Hela-S3	cervix:	n/a	chr11:34265393-34265402
6	ATF3	chr11:34264947-34265689	A549	lung:	n/a	n/a
7	SMARCC2	chr11:34265103-34265709	Hela-S3	cervix:	n/a	chr11:34265393-34265402
8	ZNF384	chr11:34265236-34266273	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:34265565-34266005	GM12892	blood:	n/a	n/a
10	FOSL1	chr11:34264860-34265719	HCT-116	colon:	n/a	chr11:34265392-34265404 chr11:34265393-34265403 chr11:34265393-34265403 chr11:34265393-34265403 chr11:34265394-34265402
11	STAT1	chr11:34265545-34266043	GM12878	blood:	n/a	n/a
12	KAP1	chr11:34265006-34265897	U2OS	brain:	n/a	chr11:34265392-34265401
13	RELA	chr11:34265327-34266061	GM18951	blood:	n/a	chr11:34265440-34265449 chr11:34265440-34265449
14	STAT5A	chr11:34265425-34266271	GM12878	blood:	n/a	chr11:34265513-34265521
15	RCOR1	chr11:34265595-34266181	GM12878	blood:	n/a	n/a
16	USF1	chr11:34265091-34265678	A549	lung:	n/a	n/a
17	BHLHE40	chr11:34265539-34266316	GM12878	blood:	n/a	n/a
18	TFAP2C	chr11:34264282-34265855	Hela-S3	cervix:	n/a	n/a
19	TEAD4	chr11:34264904-34265740	A549	lung:	n/a	chr11:34265014-34265023
20	BATF	chr11:34265565-34266061	GM12878	blood:	n/a	n/a
21	NFATC1	chr11:34265516-34266142	GM12878	blood:	n/a	n/a
22	JUND	chr11:34265617-34266033	GM12878	blood:	n/a	chr11:34265854-34265866
23	CHD2	chr11:34265599-34266154	GM12878	blood:	n/a	n/a
24	MAX	chr11:34264716-34266202	A549	lung:	n/a	chr11:34265951-34265967
25	IKZF1	chr11:34265601-34266103	GM12878	blood:	n/a	n/a
26	RELA	chr11:34265314-34266182	GM19193	blood:	n/a	chr11:34265440-34265449 chr11:34265440-34265449
27	MTA3	chr11:34265592-34266123	GM12878	blood:	n/a	n/a
28	MAFK	chr11:34265009-34265913	Hela-S3	cervix:	n/a	chr11:34265394-34265404 chr11:34265395-34265404
29	TBL1XR1	chr11:34265492-34266241	GM12878	blood:	n/a	n/a
30	SP1	chr11:34265529-34266113	GM12878	blood:	n/a	n/a
31	SMC3	chr11:34265591-34266100	GM12878	blood:	n/a	chr11:34265691-34265701
32	EP300	chr11:34264738-34265803	A549	lung:	n/a	n/a
33	MTA3	chr11:34265203-34266264	GM12878	blood:	n/a	n/a
34	RUNX3	chr11:34265255-34266351	GM12878	blood:	n/a	n/a
35	JUND	chr11:34264777-34265755	HCT-116	colon:	n/a	chr11:34265392-34265404 chr11:34265393-34265403 chr11:34265392-34265403 chr11:34265393-34265403 chr11:34265393-34265403 chr11:34265394-34265402
36	RUNX3	chr11:34265444-34266357	GM12878	blood:	n/a	n/a
37	MEF2C	chr11:34265611-34266132	GM12878	blood:	n/a	chr11:34265743-34265764
38	EP300	chr11:34264778-34265737	A549	lung:	n/a	n/a
39	MAZ	chr11:34264971-34265734	Hela-S3	cervix:	n/a	n/a
40	JUND	chr11:34265028-34265828	HCT-116	colon:	n/a	chr11:34265392-34265404 chr11:34265393-34265403 chr11:34265392-34265403 chr11:34265393-34265403 chr11:34265393-34265403 chr11:34265394-34265402
41	YY1	chr11:34265509-34265776	GM12878	blood:	n/a	n/a
42	NFIC	chr11:34265511-34266348	GM12878	blood:	n/a	n/a
43	YY1	chr11:34265632-34266054	GM12878	blood:	n/a	chr11:34265864-34265874
44	RELA	chr11:34265297-34266280	GM19099	blood:	n/a	chr11:34265440-34265449 chr11:34265440-34265449
45	JUND	chr11:34264878-34265850	Hela-S3	cervix:	n/a	chr11:34265392-34265404 chr11:34265393-34265403 chr11:34265392-34265403 chr11:34265393-34265403 chr11:34265393-34265403 chr11:34265394-34265402
46	BCL3	chr11:34264858-34265821	A549	lung:	n/a	chr11:34265439-34265448
47	RFX5	chr11:34264974-34265658	Hela-S3	cervix:	n/a	n/a
48	BCL11A	chr11:34265602-34266021	GM12878	blood:	n/a	n/a
49	BATF	chr11:34265298-34266102	GM12878	blood:	n/a	n/a
50	SP1	chr11:34264874-34265768	HCT-116	colon:	n/a	chr11:34265031-34265040 chr11:34265036-34265050

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34265214..34267176-chr11:34283077..34285328,3	MCF-7	breast:
2	chr11:34264193..34265705-chr11:34292865..34295828,2	K562	blood:

Variant related genes	Relation type
ABTB2	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11032517	1.00[AMR][1000 genomes]
rs11032565	1.00[AMR][1000 genomes]
rs11032590	1.00[AMR][1000 genomes]
rs11032594	1.00[AMR][1000 genomes]
rs12282782	1.00[AMR][1000 genomes]
rs12287726	1.00[AMR][1000 genomes]
rs2611110	1.00[AMR][1000 genomes]
rs744581	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv897204	chr11:34248229-34271712	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv897206	chr11:34253421-34337564	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34256000-34270600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:34256200-34266800	Weak transcription	Spleen	Spleen
3	chr11:34256200-34267200	Weak transcription	Psoas Muscle	Psoas
4	chr11:34258400-34266600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:34258400-34266800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:34258600-34266200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:34261600-34272600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:34262000-34266000	Weak transcription	Brain Germinal Matrix	brain
9	chr11:34263200-34267200	Enhancers	Stomach Mucosa	stomach
10	chr11:34263200-34267800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:34263400-34265800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:34263400-34265800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr11:34263400-34265800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:34263400-34266000	Flanking Active TSS	Hela-S3	cervix
15	chr11:34263400-34266200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:34263400-34266400	Enhancers	Placenta	Placenta
17	chr11:34263400-34266600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr11:34263400-34266800	Enhancers	Fetal Intestine Large	intestine
19	chr11:34263400-34267200	Enhancers	HSMM	muscle
20	chr11:34263400-34267600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:34263400-34267600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:34263400-34267800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:34263400-34267800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:34263400-34267800	Enhancers	Fetal Intestine Small	intestine
25	chr11:34263400-34267800	Enhancers	NHEK	skin
26	chr11:34263400-34269400	Enhancers	HSMMtube	muscle
27	chr11:34263600-34266800	Enhancers	NH-A	brain
28	chr11:34263600-34267600	Enhancers	Left Ventricle	heart
29	chr11:34263600-34267800	Enhancers	Fetal Heart	heart
30	chr11:34263600-34267800	Enhancers	Right Ventricle	heart
31	chr11:34263600-34267800	Enhancers	HMEC	breast
32	chr11:34263800-34265800	Enhancers	Esophagus	oesophagus
33	chr11:34263800-34266000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:34263800-34267600	Enhancers	Right Atrium	heart
35	chr11:34264200-34265800	Enhancers	K562	blood
36	chr11:34264200-34272600	Weak transcription	Lung	lung
37	chr11:34264400-34266800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:34264600-34266800	Weak transcription	Gastric	stomach
39	chr11:34264800-34266000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:34264800-34266000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:34264800-34266200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:34264800-34266200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:34264800-34267400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr11:34265000-34265800	Enhancers	Liver	Liver
45	chr11:34265000-34266000	Enhancers	Osteobl	bone
46	chr11:34265000-34266200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr11:34265000-34266200	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr11:34265000-34266400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr11:34265000-34266400	Enhancers	Brain Substantia Nigra	brain
50	chr11:34265000-34267400	Enhancers	Skeletal Muscle Male	skeletal muscle

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