Variant report

Variant	rs7675933
Chromosome Location	chr4:152331521-152331522
allele	A/G
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	SIN3A	chr4:152328913-152331560	H1-hESC	embryonic stem cell:	n/a	chr4:152330620-152330628 chr4:152330621-152330634
2	POLR2A	chr4:152329344-152331526	Hela-S3	cervix:	n/a	n/a
3	ARID3A	chr4:152330998-152331597	HepG2	liver:	n/a	n/a
4	JUND	chr4:152331263-152331585	H1-hESC	embryonic stem cell:	n/a	n/a
5	RCOR1	chr4:152330984-152331684	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr4:152329443-152331848	MCF10A-Er-Src	breast:	n/a	n/a
7	ZNF143	chr4:152331306-152331531	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF7L2	chr4:152330785-152331870	Hela-S3	cervix:	n/a	chr4:152331854-152331864 chr4:152331855-152331864 chr4:152331857-152331864
9	ZEB1	chr4:152329663-152331590	HepG2	liver:	n/a	chr4:152330611-152330624
10	TCF12	chr4:152329652-152331578	ECC-1	luminal epithelium:	n/a	n/a
11	USF1	chr4:152330933-152331556	ECC-1	luminal epithelium:	n/a	chr4:152331326-152331337
12	USF1	chr4:152331110-152331550	ECC-1	luminal epithelium:	n/a	chr4:152331326-152331337
13	POLR2A	chr4:152330891-152331688	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF263	chr4:152330343-152331580	HEK293-T-REx	kidney:	n/a	chr4:152330823-152330832 chr4:152330677-152330686

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152244677..152247078-chr4:152328782..152331586,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251611	TF binding region
ENSG00000109686	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10857261	0.84[EUR][1000 genomes]
rs11099804	0.83[EUR][1000 genomes]
rs11099808	0.86[EUR][1000 genomes]
rs11099809	0.86[EUR][1000 genomes]
rs11099810	0.86[EUR][1000 genomes]
rs11099813	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11099818	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11726171	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11726222	0.86[EUR][1000 genomes]
rs11726545	0.84[EUR][1000 genomes]
rs11728501	0.85[EUR][1000 genomes]
rs11728871	0.87[EUR][1000 genomes]
rs11729514	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11730733	0.81[EUR][1000 genomes]
rs11734176	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11735143	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11736261	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11736961	0.92[EUR][1000 genomes]
rs11934818	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11947720	0.87[EUR][1000 genomes]
rs12498556	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12498878	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12499534	0.86[EUR][1000 genomes]
rs12502212	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12504273	0.84[EUR][1000 genomes]
rs12508678	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1372979	0.84[EUR][1000 genomes]
rs1443085	0.84[EUR][1000 genomes]
rs17275584	0.84[EUR][1000 genomes]
rs1992517	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2897619	0.87[EUR][1000 genomes]
rs36083376	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3811748	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3811749	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3934474	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4371601	0.84[EUR][1000 genomes]
rs4622982	0.85[EUR][1000 genomes]
rs56092201	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56763519	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57178913	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57272881	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57348790	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57902858	0.83[EUR][1000 genomes]
rs58863309	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58961701	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59097700	0.83[EUR][1000 genomes]
rs59731141	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59777523	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59811197	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59984665	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60055392	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60077220	0.92[EUR][1000 genomes]
rs60169090	0.84[EUR][1000 genomes]
rs60707008	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61294884	0.84[EUR][1000 genomes]
rs61302767	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61630225	0.80[EUR][1000 genomes]
rs6535791	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6535802	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6535805	0.86[EUR][1000 genomes]
rs6813289	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6817055	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6826318	0.84[EUR][1000 genomes]
rs6832899	0.84[EUR][1000 genomes]
rs6835310	0.84[EUR][1000 genomes]
rs6838608	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6844169	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6845067	0.92[EUR][1000 genomes]
rs6846013	0.92[EUR][1000 genomes]
rs6851305	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6853342	0.83[EUR][1000 genomes]
rs6856392	0.82[EUR][1000 genomes]
rs73861275	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73861826	0.89[EUR][1000 genomes]
rs73861827	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73862055	0.84[EUR][1000 genomes]
rs73862076	0.81[EUR][1000 genomes]
rs73864013	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7653926	0.84[EUR][1000 genomes]
rs7655466	0.84[EUR][1000 genomes]
rs7662214	0.86[EUR][1000 genomes]
rs7662713	0.81[EUR][1000 genomes]
rs7664074	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7677528	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7678496	0.83[EUR][1000 genomes]
rs7684972	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7690773	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9683881	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9917912	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1025192	chr4:152202627-152498890	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv537307	chr4:152202627-152498890	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv880624	chr4:152280646-152549112	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer 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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152328800-152331600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr4:152328800-152332000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr4:152329000-152331600	Active TSS	Gastric	stomach
4	chr4:152329000-152331800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:152329000-152331800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr4:152329000-152331800	Active TSS	Esophagus	oesophagus
7	chr4:152329000-152332000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr4:152329000-152333000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr4:152329200-152331600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:152329400-152332200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr4:152329600-152331600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:152329600-152331600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:152329600-152331600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:152329600-152331600	Active TSS	Left Ventricle	heart
15	chr4:152329600-152331800	Active TSS	Pancreas	Pancrea
16	chr4:152329600-152331800	Active TSS	Right Ventricle	heart
17	chr4:152329600-152332200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr4:152329800-152331800	Active TSS	Rectal Smooth Muscle	rectum
19	chr4:152329800-152332000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr4:152330000-152331600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:152330600-152331600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
22	chr4:152330600-152331600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
23	chr4:152330600-152331600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr4:152330800-152331600	Flanking Active TSS	Liver	Liver
25	chr4:152330800-152331600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr4:152330800-152332200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr4:152331000-152331600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr4:152331000-152331600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:152331000-152331600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
30	chr4:152331000-152331600	Flanking Bivalent TSS/Enh	HepG2	liver
31	chr4:152331000-152332000	Flanking Active TSS	Hela-S3	cervix
32	chr4:152331200-152331600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:152331200-152331600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
34	chr4:152331200-152331600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr4:152331200-152331600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:152331200-152331600	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr4:152331200-152331600	Bivalent/Poised TSS	Fetal Stomach	stomach
38	chr4:152331200-152331600	Flanking Active TSS	Right Atrium	heart
39	chr4:152331200-152331600	Flanking Active TSS	Stomach Mucosa	stomach
40	chr4:152331200-152331800	Bivalent Enhancer	Brain Germinal Matrix	brain
41	chr4:152331200-152331800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr4:152331200-152332000	Bivalent/Poised TSS	Fetal Lung	lung
43	chr4:152331200-152333000	Flanking Active TSS	NHEK	skin
44	chr4:152331200-152336000	Weak transcription	HUVEC	blood vessel
45	chr4:152331400-152331600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:152331400-152331600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:152331400-152331600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr4:152331400-152331600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr4:152331400-152331600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:152331400-152331600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain

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