Variant report

Variant	rs11940126
Chromosome Location	chr4:186790909-186790910
allele	A/G
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]
rs12498701	0.88[JPT][hapmap];0.85[YRI][hapmap]
rs12505796	1.00[CEU][hapmap];0.83[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs12508389	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1499015	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3796645	0.86[CHB][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs6552930	0.91[JPT][hapmap]
rs7679935	0.92[JPT][hapmap]
rs7694456	0.86[CHB][hapmap];0.83[JPT][hapmap]

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:34 , 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	chr4:186787800-186795400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:186788000-186792400	Weak transcription	Esophagus	oesophagus
6	chr4:186788000-186795400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:186789000-186795200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:186789000-186799600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:186789800-186791000	Enhancers	Aorta	Aorta
10	chr4:186789800-186791000	Enhancers	Pancreas	Pancrea
11	chr4:186789800-186791000	Enhancers	Hela-S3	cervix
12	chr4:186789800-186791600	Enhancers	HSMMtube	muscle
13	chr4:186790000-186791000	Enhancers	Left Ventricle	heart
14	chr4:186790000-186791600	Enhancers	Liver	Liver
15	chr4:186790000-186792200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:186790200-186791000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:186790200-186792000	Enhancers	Fetal Brain Female	brain
18	chr4:186790400-186791000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:186790400-186791400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:186790400-186792600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:186790600-186791000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr4:186790600-186791000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:186790600-186791000	Enhancers	Stomach Smooth Muscle	stomach
24	chr4:186790600-186791600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:186790600-186791600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:186790600-186791600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:186790600-186791800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:186790600-186792000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:186790600-186792000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:186790600-186792000	Enhancers	Fetal Brain Male	brain
31	chr4:186790600-186792200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:186790600-186795400	Weak transcription	Osteobl	bone
33	chr4:186790800-186791000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr4:186790800-186791400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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