Variant report

Variant	rs12505796
Chromosome Location	chr4:186790163-186790164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10028021	0.96[ASN][1000 genomes]
rs11940126	1.00[CEU][hapmap];0.83[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs12498701	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1391867	0.83[CHD][hapmap];0.82[ASN][1000 genomes]
rs2648112	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs28702910	1.00[ASN][1000 genomes]
rs6552930	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7679935	0.91[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186771600-186791600	Weak transcription	Right Atrium	heart
2	chr4:186784200-186791400	Weak transcription	Right Ventricle	heart
3	chr4:186785600-186794800	Enhancers	Fetal Heart	heart
4	chr4:186787200-186790400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:186787400-186790400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:186787400-186790600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:186787600-186790200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:186787600-186790200	Weak transcription	Fetal Brain Female	brain
9	chr4:186787600-186790600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:186787800-186795400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:186788000-186792400	Weak transcription	Esophagus	oesophagus
12	chr4:186788000-186795400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:186789000-186795200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:186789000-186799600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:186789200-186790600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:186789200-186790800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:186789600-186790600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:186789800-186790600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:186789800-186790600	Enhancers	HSMM	muscle
20	chr4:186789800-186791000	Enhancers	Aorta	Aorta
21	chr4:186789800-186791000	Enhancers	Pancreas	Pancrea
22	chr4:186789800-186791000	Enhancers	Hela-S3	cervix
23	chr4:186789800-186791600	Enhancers	HSMMtube	muscle
24	chr4:186790000-186790600	Enhancers	Osteobl	bone
25	chr4:186790000-186790800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:186790000-186790800	Enhancers	Stomach Mucosa	stomach
27	chr4:186790000-186791000	Enhancers	Left Ventricle	heart
28	chr4:186790000-186791600	Enhancers	Liver	Liver
29	chr4:186790000-186792200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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