Variant report

Variant	rs7940113
Chromosome Location	chr11:67896317-67896318
allele	A/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	ZMIZ1	chr11:67896193-67896503	K562	blood:	n/a	n/a
2	POLR2A	chr11:67895952-67896620	H1-hESC	embryonic stem cell:	n/a	n/a
3	HMGN3	chr11:67895948-67896440	K562	blood:	n/a	n/a
4	BHLHE40	chr11:67896215-67896442	K562	blood:	n/a	n/a
5	MYC	chr11:67896088-67896506	K562	blood:	n/a	chr11:67896300-67896310
6	MAX	chr11:67896154-67896494	K562	blood:	n/a	chr11:67896300-67896310
7	MAX	chr11:67896118-67896486	HepG2	liver:	n/a	chr11:67896300-67896310
8	TBP	chr11:67895954-67896454	HepG2	liver:	n/a	n/a
9	MAX	chr11:67896154-67896483	H1-hESC	embryonic stem cell:	n/a	chr11:67896300-67896310
10	ZBTB7A	chr11:67895747-67896471	K562	blood:	n/a	n/a
11	TEAD4	chr11:67896061-67896605	K562	blood:	n/a	n/a
12	USF1	chr11:67896130-67896471	K562	blood:	n/a	n/a
13	SIN3A	chr11:67895471-67896361	H1-hESC	embryonic stem cell:	n/a	chr11:67895832-67895845
14	USF1	chr11:67896183-67896438	HepG2	liver:	n/a	n/a
15	CBX3	chr11:67896129-67896611	K562	blood:	n/a	n/a
16	MYC	chr11:67895924-67896519	K562	blood:	n/a	chr11:67896300-67896310
17	NFIC	chr11:67895545-67896470	ECC-1	luminal epithelium:	n/a	n/a
18	EP300	chr11:67896245-67896544	HepG2	liver:	n/a	n/a
19	POLR2A	chr11:67896310-67896346	MCF-7	breast:	n/a	n/a
20	MXI1	chr11:67896217-67896417	K562	blood:	n/a	chr11:67896294-67896303
21	MAX	chr11:67895082-67896736	HepG2	liver:	n/a	chr11:67896300-67896310 chr11:67896557-67896567 chr11:67895920-67895930
22	MAX	chr11:67895802-67896571	K562	blood:	n/a	chr11:67896300-67896310 chr11:67896557-67896567 chr11:67895920-67895930
23	MAZ	chr11:67895461-67896686	IMR90	lung:	n/a	chr11:67896300-67896310 chr11:67896557-67896567 chr11:67895920-67895930
24	RCOR1	chr11:67896248-67896412	K562	blood:	n/a	n/a
25	EP300	chr11:67896224-67896533	K562	blood:	n/a	n/a
26	EGR1	chr11:67896078-67896512	K562	blood:	n/a	chr11:67896131-67896141 chr11:67896127-67896136 chr11:67896130-67896140 chr11:67896132-67896145 chr11:67896120-67896133 chr11:67896126-67896139
27	RFX5	chr11:67896060-67896459	HepG2	liver:	n/a	n/a
28	GATA3	chr11:67896113-67896538	T-47D	breast:	n/a	chr11:67896261-67896277 chr11:67896264-67896273 chr11:67896351-67896361
29	MXI1	chr11:67896204-67896424	H1-hESC	embryonic stem cell:	n/a	chr11:67896294-67896303
30	MAX	chr11:67895653-67896555	ECC-1	luminal epithelium:	n/a	chr11:67896300-67896310 chr11:67895920-67895930
31	HCFC1	chr11:67896315-67896324	K562	blood:	n/a	n/a
32	POLR2A	chr11:67895088-67896697	H1-hESC	embryonic stem cell:	n/a	n/a
33	HNF4A	chr11:67895001-67896521	HepG2	liver:	n/a	chr11:67896355-67896368 chr11:67895332-67895340 chr11:67895826-67895841 chr11:67895334-67895346 chr11:67895332-67895347 chr11:67896354-67896369 chr11:67896355-67896368 chr11:67895333-67895341
34	CHD2	chr11:67896311-67896457	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:67895796-67896570	K562	blood:	n/a	n/a
36	RCOR1	chr11:67896154-67896566	K562	blood:	n/a	n/a
37	GATA2	chr11:67896153-67896529	SH-SY5Y	brain:	n/a	chr11:67896261-67896277 chr11:67896264-67896273 chr11:67896351-67896361
38	MAX	chr11:67896138-67896448	K562	blood:	n/a	chr11:67896300-67896310
39	POLR2A	chr11:67895223-67896675	HepG2	liver:	n/a	n/a
40	ARID3A	chr11:67896179-67896410	K562	blood:	n/a	n/a
41	CCNT2	chr11:67895894-67896469	K562	blood:	n/a	chr11:67896125-67896134 chr11:67896131-67896140 chr11:67896008-67896017
42	MXI1	chr11:67895799-67896915	IMR90	lung:	n/a	chr11:67896294-67896303
43	RCOR1	chr11:67895219-67896533	HepG2	liver:	n/a	n/a
44	POLR2A	chr11:67895481-67896530	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr11:67896156-67896416	K562	blood:	n/a	chr11:67896300-67896310
46	GATA1	chr11:67896037-67896663	PBDE	blood:	n/a	chr11:67896261-67896277 chr11:67896264-67896273 chr11:67896351-67896361
47	MYC	chr11:67896160-67896497	HepG2	liver:	n/a	chr11:67896300-67896310
48	IRF1	chr11:67895830-67896414	K562	blood:	n/a	chr11:67896127-67896141 chr11:67896318-67896332 chr11:67896316-67896330 chr11:67896320-67896330 chr11:67896312-67896332 chr11:67896007-67896021 chr11:67896319-67896336
49	MAX	chr11:67895070-67896758	HepG2	liver:	n/a	chr11:67896300-67896310 chr11:67896557-67896567 chr11:67895920-67895930
50	MAX	chr11:67895982-67896631	H1-hESC	embryonic stem cell:	n/a	chr11:67896300-67896310 chr11:67896557-67896567

No.	Distal block	Cell Line	Cell type
1	chr11:67894406..67897015-chr11:67908475..67910662,2	K562	blood:
2	chr11:67886665..67892183-chr11:67892786..67897158,12	MCF-7	breast:
3	chr11:67895109..67896944-chr11:67898965..67901402,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255236	TF binding region
ENSG00000255236	Chromatin interaction
ENSG00000110721	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10791956	0.84[EUR][1000 genomes]
rs10791957	0.87[EUR][1000 genomes]
rs10791959	0.84[ASN][1000 genomes]
rs10896293	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10896295	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228133	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11228137	0.82[ASN][1000 genomes]
rs11228141	0.84[ASN][1000 genomes]
rs11228145	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11535788	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2457179	0.83[EUR][1000 genomes]
rs2511468	0.83[ASN][1000 genomes]
rs2511469	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2511470	0.84[ASN][1000 genomes]
rs2511472	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2511473	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2511475	0.87[ASN][1000 genomes]
rs2512608	0.83[EUR][1000 genomes]
rs2512611	0.83[EUR][1000 genomes]
rs2512612	0.84[EUR][1000 genomes]
rs2512623	0.81[EUR][1000 genomes]
rs2512624	0.87[ASN][1000 genomes]
rs3935460	0.84[EUR][1000 genomes]
rs4073551	0.82[EUR][1000 genomes]
rs4930557	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61890478	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6591331	0.81[ASN][1000 genomes]
rs6591333	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7104982	0.82[EUR][1000 genomes]
rs7123183	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7123668	0.82[EUR][1000 genomes]
rs7124058	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7925022	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7925423	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7940217	0.82[EUR][1000 genomes]
rs7940501	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944372	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67889600-67897400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:67889800-67897400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:67889800-67897600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr11:67892000-67897800	Enhancers	Pancreas	Pancrea
5	chr11:67893600-67896800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr11:67894000-67898000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:67894600-67897400	Enhancers	Lung	lung
8	chr11:67895000-67896400	Enhancers	Gastric	stomach
9	chr11:67895200-67896400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:67895400-67896400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:67895400-67896400	Active TSS	Brain Anterior Caudate	brain
12	chr11:67895400-67896400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr11:67895400-67896600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:67895400-67896600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr11:67895400-67896600	Active TSS	Brain Angular Gyrus	brain
16	chr11:67895400-67896600	Flanking Active TSS	Fetal Muscle Trunk	muscle
17	chr11:67895400-67896600	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr11:67895400-67896600	Enhancers	HUVEC	blood vessel
19	chr11:67895400-67897200	Enhancers	Fetal Brain Male	brain
20	chr11:67895600-67896400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:67895600-67896400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr11:67895600-67896400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr11:67895600-67896400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:67895600-67896400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:67895600-67896400	Active TSS	Ovary	ovary
26	chr11:67895600-67896400	Active TSS	Right Ventricle	heart
27	chr11:67895600-67896400	Weak transcription	Hela-S3	cervix
28	chr11:67895600-67896600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:67895600-67896600	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr11:67895600-67896600	Flanking Active TSS	Colonic Mucosa	Colon
31	chr11:67895600-67896600	Active TSS	Fetal Brain Female	brain
32	chr11:67895800-67896400	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr11:67895800-67896400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:67895800-67896400	Active TSS	Aorta	Aorta
35	chr11:67895800-67896400	Active TSS	Fetal Intestine Large	intestine
36	chr11:67895800-67896400	Active TSS	Fetal Intestine Small	intestine
37	chr11:67895800-67896400	Active TSS	Left Ventricle	heart
38	chr11:67895800-67896600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
39	chr11:67895800-67896600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr11:67896000-67896400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:67896000-67896400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:67896000-67896400	Flanking Active TSS	Esophagus	oesophagus
43	chr11:67896000-67896400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr11:67896000-67896400	Transcr. at gene 5' and 3'	Right Atrium	heart
45	chr11:67896000-67896400	Enhancers	HMEC	breast
46	chr11:67896000-67896600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr11:67896000-67896800	Enhancers	Small Intestine	intestine
48	chr11:67896000-67896800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr11:67896200-67896400	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr11:67896200-67896400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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