Variant report

Variant	rs6840516
Chromosome Location	chr4:186683084-186683085
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	STAT3	chr4:186682801-186683365	Hela-S3	cervix:	n/a	n/a
2	USF2	chr4:186682964-186683312	Hela-S3	cervix:	n/a	n/a
3	GATA2	chr4:186682429-186683756	HUVEC	blood vessel:	n/a	chr4:186682966-186682977
4	CEBPB	chr4:186682775-186683454	Hela-S3	cervix:	n/a	chr4:186683241-186683254 chr4:186683240-186683257 chr4:186683242-186683253
5	CEBPB	chr4:186683065-186683400	IMR90	lung:	n/a	chr4:186683241-186683254 chr4:186683240-186683257 chr4:186683242-186683253
6	FOS	chr4:186682545-186683132	HUVEC	blood vessel:	n/a	chr4:186682787-186682796 chr4:186682813-186682822
7	STAT3	chr4:186682826-186683309	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr4:186683077-186683315	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr4:186682763-186683414	Hela-S3	cervix:	n/a	chr4:186683239-186683253
10	RAD21	chr4:186682862-186683375	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr4:186683062-186683430	HepG2	liver:	n/a	chr4:186683241-186683254 chr4:186683240-186683257 chr4:186683242-186683253
12	STAT3	chr4:186682891-186683398	MCF10A-Er-Src	breast:	n/a	n/a
13	MAX	chr4:186682803-186683332	Hela-S3	cervix:	n/a	n/a
14	MYC	chr4:186682907-186683291	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr4:186682832-186683348	MCF10A-Er-Src	breast:	n/a	n/a
16	RFX5	chr4:186682818-186683339	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr4:186683063-186683431	A549	lung:	n/a	chr4:186683241-186683254 chr4:186683240-186683257 chr4:186683242-186683253
18	STAT3	chr4:186682684-186683180	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr4:186682878-186683336	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr4:186683059-186683309	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr4:186682870-186683409	MCF10A-Er-Src	breast:	n/a	n/a
22	SMC3	chr4:186682759-186683314	Hela-S3	cervix:	n/a	n/a
23	TCF7L2	chr4:186682767-186683365	Hela-S3	cervix:	n/a	chr4:186682965-186682979

Variant related genes	Relation type
SORBS2	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11735040	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13142255	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28601834	0.84[ASN][1000 genomes]
rs34252130	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34469648	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34559355	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4543173	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6833544	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72703810	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9994517	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186655200-186701400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:186661400-186694600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:186662200-186688800	Weak transcription	Aorta	Aorta
4	chr4:186664800-186693400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:186667600-186691400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:186673000-186714000	Weak transcription	Ovary	ovary
7	chr4:186676600-186694000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:186676800-186690800	Weak transcription	Fetal Intestine Small	intestine
9	chr4:186677000-186687200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:186677200-186690400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:186680600-186702600	Weak transcription	Gastric	stomach
12	chr4:186681000-186688800	Weak transcription	HepG2	liver
13	chr4:186682400-186683200	Transcr. at gene 5' and 3'	Fetal Heart	heart
14	chr4:186682400-186683600	Enhancers	Pancreas	Pancrea
15	chr4:186682400-186683600	Enhancers	Stomach Mucosa	stomach
16	chr4:186682400-186683800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:186682600-186683200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:186682600-186683200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:186682600-186683200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:186682600-186683200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:186682600-186683200	Active TSS	Left Ventricle	heart
22	chr4:186682600-186683400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr4:186682600-186683400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:186682600-186683400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:186682600-186683400	Enhancers	Colon Smooth Muscle	Colon
26	chr4:186682600-186683400	Enhancers	Rectal Smooth Muscle	rectum
27	chr4:186682600-186683400	Flanking Active TSS	Hela-S3	cervix
28	chr4:186682600-186683600	Enhancers	HSMM	muscle
29	chr4:186682600-186683600	Enhancers	NHEK	skin
30	chr4:186682600-186683600	Enhancers	Osteobl	bone
31	chr4:186682600-186683800	Enhancers	HSMMtube	muscle
32	chr4:186682800-186683200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:186682800-186683200	Enhancers	HMEC	breast
34	chr4:186682800-186683400	Enhancers	Liver	Liver
35	chr4:186682800-186683400	Flanking Active TSS	HUVEC	blood vessel
36	chr4:186682800-186684400	Weak transcription	Esophagus	oesophagus
37	chr4:186682800-186685600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr4:186683000-186683400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr4:186683000-186684000	Enhancers	Right Ventricle	heart

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