Variant report

Variant	rs61653326
Chromosome Location	chr4:152495318-152495319
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	STAT3	chr4:152494960-152495388	MCF10A-Er-Src	breast:	n/a	chr4:152495039-152495050
2	RAD21	chr4:152495296-152495515	SK-N-SH_RA	brain:	n/a	n/a
3	USF2	chr4:152495293-152495374	Hela-S3	cervix:	n/a	n/a
4	E2F4	chr4:152495232-152495476	MCF10A-Er-Src	breast:	n/a	n/a
5	RAD21	chr4:152495287-152495523	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr4:152495280-152495430	HMF	breast:	n/a	n/a
7	STAT3	chr4:152495072-152495520	MCF10A-Er-Src	breast:	n/a	n/a
8	MAFK	chr4:152495259-152495383	HepG2	liver:	n/a	chr4:152495291-152495311 chr4:152495296-152495312 chr4:152495300-152495311 chr4:152495296-152495311 chr4:152495299-152495313
9	FOS	chr4:152495098-152495552	MCF10A-Er-Src	breast:	n/a	chr4:152495331-152495338 chr4:152495331-152495340
10	STAT3	chr4:152495001-152495551	MCF10A-Er-Src	breast:	n/a	chr4:152495039-152495050
11	FOS	chr4:152495150-152495501	MCF10A-Er-Src	breast:	n/a	chr4:152495331-152495338 chr4:152495331-152495340
12	CTCF	chr4:152495200-152495350	SAEC	small airway:	n/a	n/a
13	CTCF	chr4:152495300-152495450	SAEC	small airway:	n/a	n/a
14	CTCF	chr4:152495305-152495421	NHEK	skin:	n/a	n/a
15	RAD21	chr4:152495206-152495537	Hela-S3	cervix:	n/a	n/a
16	FOS	chr4:152495099-152495533	MCF10A-Er-Src	breast:	n/a	chr4:152495331-152495338 chr4:152495331-152495340
17	STAT3	chr4:152495053-152495553	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr4:152495146-152495462	MCF10A-Er-Src	breast:	n/a	n/a
19	RAD21	chr4:152495150-152495490	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr4:152495260-152495410	RPTEC	kidney:	n/a	n/a
21	MYC	chr4:152495082-152495550	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr4:152495144-152495511	MCF10A-Er-Src	breast:	n/a	chr4:152495331-152495338 chr4:152495331-152495340
23	STAT3	chr4:152495072-152495508	MCF10A-Er-Src	breast:	n/a	n/a
24	RAD21	chr4:152495261-152495530	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152452273..152454102-chr4:152495162..152497210,2	MCF-7	breast:
2	chr4:152493503..152497006-chr4:152497328..152500411,3	MCF-7	breast:

Variant related genes	Relation type
RN7SKP35	TF binding region
ENSG00000253019	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10002512	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10002750	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10010061	1.00[AMR][1000 genomes]
rs10014639	1.00[AMR][1000 genomes]
rs10015816	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10017489	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10020313	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10027105	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10032584	1.00[AMR][1000 genomes]
rs10034746	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10212987	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10213361	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10471071	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10471072	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13353741	1.00[AMR][1000 genomes]
rs13435896	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027673	0.96[AFR][1000 genomes]
rs17027675	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027703	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027725	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027738	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027739	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027742	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027757	1.00[AMR][1000 genomes]
rs17027762	1.00[AMR][1000 genomes]
rs17027764	1.00[AMR][1000 genomes]
rs17027767	1.00[AMR][1000 genomes]
rs28404927	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28417352	1.00[AMR][1000 genomes]
rs28454065	1.00[AMR][1000 genomes]
rs28461656	1.00[AMR][1000 genomes]
rs28494961	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28539581	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28540596	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28558989	1.00[AMR][1000 genomes]
rs28591074	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28595853	1.00[AMR][1000 genomes]
rs28618192	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28634312	1.00[AMR][1000 genomes]
rs28656459	1.00[AMR][1000 genomes]
rs28722860	1.00[AMR][1000 genomes]
rs28788179	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28798801	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28822494	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28836879	0.98[AFR][1000 genomes]
rs28837860	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28884810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57562339	1.00[AMR][1000 genomes]
rs72954810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954898	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72956911	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72956926	1.00[AMR][1000 genomes]
rs72956927	1.00[AMR][1000 genomes]
rs9307882	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9307883	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9307884	1.00[AMR][1000 genomes]
rs9307885	1.00[AMR][1000 genomes]
rs9683731	1.00[AMR][1000 genomes]
rs9994720	1.00[AMR][1000 genomes]
rs9997778	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	nsv881342	chr4:152363772-152560449	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv830114	chr4:152401288-152548606	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152476600-152526600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:152484800-152518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:152485200-152496400	Weak transcription	Colonic Mucosa	Colon
4	chr4:152485600-152509600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:152485800-152498800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:152491200-152519000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:152491400-152496400	Weak transcription	Psoas Muscle	Psoas
8	chr4:152491400-152497600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:152491800-152496400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:152494400-152496800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr4:152494800-152495400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:152494800-152495400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:152494800-152495400	Enhancers	Esophagus	oesophagus
14	chr4:152494800-152495400	Genic enhancers	Pancreas	Pancrea
15	chr4:152494800-152495400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr4:152494800-152495400	Enhancers	Hela-S3	cervix
17	chr4:152494800-152495600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:152494800-152495800	Enhancers	HMEC	breast
19	chr4:152494800-152496800	Enhancers	Duodenum Mucosa	Duodenum
20	chr4:152495000-152495400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:152495000-152495400	Enhancers	Gastric	stomach
22	chr4:152495000-152495400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr4:152495000-152495400	Enhancers	Stomach Mucosa	stomach
24	chr4:152495000-152495400	Enhancers	Spleen	Spleen
25	chr4:152495000-152495400	Flanking Active TSS	NHEK	skin
26	chr4:152495200-152495400	Enhancers	Fetal Intestine Large	intestine
27	chr4:152495200-152495400	Enhancers	Fetal Intestine Small	intestine
28	chr4:152495200-152496400	Weak transcription	Rectal Mucosa Donor 31	rectum

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