Variant report

Variant	rs7687550
Chromosome Location	chr4:186615022-186615023
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	JUN	chr4:186614959-186615403	HUVEC	blood vessel:	n/a	chr4:186615145-186615155 chr4:186615247-186615257
2	FOS	chr4:186614954-186615446	HUVEC	blood vessel:	n/a	chr4:186615145-186615155 chr4:186615247-186615257
3	MAFK	chr4:186614747-186615057	HepG2	liver:	n/a	chr4:186614893-186614908 chr4:186614892-186614906 chr4:186614894-186614905 chr4:186614893-186614904 chr4:186614893-186614909 chr4:186614893-186614904
4	MAFF	chr4:186614780-186615075	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SORBS2	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10003873	0.86[EUR][1000 genomes]
rs10014999	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10434304	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs12509966	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512174	0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs12648024	0.94[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs12648681	0.86[EUR][1000 genomes]
rs28516669	1.00[EUR][1000 genomes]
rs57647954	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60618255	0.86[EUR][1000 genomes]
rs6552910	0.82[JPT][hapmap]
rs6552912	0.83[EUR][1000 genomes]
rs6552914	0.83[EUR][1000 genomes]
rs6824547	0.83[EUR][1000 genomes]
rs6848805	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73876146	0.86[EUR][1000 genomes]
rs7687563	0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694583	0.83[EUR][1000 genomes]
rs9312340	1.00[YRI][hapmap]
rs955263	0.96[YRI][hapmap]

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	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	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186597200-186626000	Weak transcription	HepG2	liver
2	chr4:186598600-186615800	Weak transcription	Fetal Intestine Small	intestine
3	chr4:186599600-186621200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:186601000-186615400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:186606200-186618400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:186606200-186621000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:186607000-186616400	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:186607800-186621200	Weak transcription	Osteobl	bone
9	chr4:186607800-186621800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:186608000-186626000	Weak transcription	HSMM	muscle
11	chr4:186608600-186616800	Weak transcription	HSMMtube	muscle
12	chr4:186609000-186615400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:186611000-186617600	Weak transcription	Aorta	Aorta
14	chr4:186611000-186625600	Weak transcription	Pancreas	Pancrea
15	chr4:186611000-186626000	Weak transcription	Gastric	stomach
16	chr4:186611200-186617000	Weak transcription	Liver	Liver
17	chr4:186613600-186630800	Weak transcription	Right Atrium	heart
18	chr4:186614000-186619200	Enhancers	Fetal Heart	heart
19	chr4:186614200-186615600	Flanking Active TSS	HUVEC	blood vessel
20	chr4:186614200-186615800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:186614400-186615400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:186614600-186615600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:186614600-186615600	Active TSS	Adipose Nuclei	Adipose
24	chr4:186614600-186617000	Weak transcription	Left Ventricle	heart
25	chr4:186614800-186615200	Active TSS	Brain Anterior Caudate	brain
26	chr4:186614800-186615400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:186614800-186615400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:186614800-186615400	Active TSS	NH-A	brain
29	chr4:186614800-186615600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:186615000-186615400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:186615000-186623200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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