Variant report

Variant	rs7688359
Chromosome Location	chr4:186615454-186615455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10003750	0.83[ASN][1000 genomes]
rs10011292	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs10016122	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10017672	0.88[CEU][hapmap]
rs10017940	0.87[CEU][hapmap]
rs10019263	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11132336	0.81[EUR][1000 genomes]
rs11132337	0.81[EUR][1000 genomes]
rs11132338	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs11132339	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs1124024	1.00[CEU][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11725010	0.81[EUR][1000 genomes]
rs11733264	0.81[EUR][1000 genomes]
rs11932587	0.81[EUR][1000 genomes]
rs11937510	0.81[EUR][1000 genomes]
rs11941721	0.81[EUR][1000 genomes]
rs1540711	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1542847	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566350	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2030143	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2030144	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2047499	0.85[CEU][hapmap]
rs4376189	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4407549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4640708	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs4862561	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[YRI][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4862565	0.88[CEU][hapmap]
rs4862566	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6552909	0.90[ASN][1000 genomes]
rs6552917	0.82[JPT][hapmap]
rs6812761	0.81[EUR][1000 genomes]
rs6820044	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6825114	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6825669	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6826210	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6828335	0.84[ASN][1000 genomes]
rs6836237	0.88[CEU][hapmap]
rs6837079	0.88[CEU][hapmap]
rs6851734	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7340885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7694063	0.85[EUR][1000 genomes]
rs7696530	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs950590	1.00[JPT][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:27 , 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	chr4:186606200-186618400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:186606200-186621000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:186607000-186616400	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:186607800-186621200	Weak transcription	Osteobl	bone
8	chr4:186607800-186621800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:186608000-186626000	Weak transcription	HSMM	muscle
10	chr4:186608600-186616800	Weak transcription	HSMMtube	muscle
11	chr4:186611000-186617600	Weak transcription	Aorta	Aorta
12	chr4:186611000-186625600	Weak transcription	Pancreas	Pancrea
13	chr4:186611000-186626000	Weak transcription	Gastric	stomach
14	chr4:186611200-186617000	Weak transcription	Liver	Liver
15	chr4:186613600-186630800	Weak transcription	Right Atrium	heart
16	chr4:186614000-186619200	Enhancers	Fetal Heart	heart
17	chr4:186614200-186615600	Flanking Active TSS	HUVEC	blood vessel
18	chr4:186614200-186615800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:186614600-186615600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:186614600-186615600	Active TSS	Adipose Nuclei	Adipose
21	chr4:186614600-186617000	Weak transcription	Left Ventricle	heart
22	chr4:186614800-186615600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:186615000-186623200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:186615200-186615800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr4:186615400-186615600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:186615400-186615600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr4:186615400-186617000	Enhancers	Rectal Smooth Muscle	rectum

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