Variant report

Variant	rs1574196
Chromosome Location	chr8:62493835-62493836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11782345	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs11984541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2350585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882460	0.84[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs60403482	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66516703	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66795450	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7017995	0.84[ASN][1000 genomes]
rs7822250	0.88[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs7834148	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836217	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv967596	chr8:62489340-62494513	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1574196	BHLHE22	cis	parietal	SCAN
rs1574196	FAM110B	cis	parietal	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
3	chr8:62449800-62503600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:62456600-62503800	Weak transcription	Stomach Mucosa	stomach
5	chr8:62457000-62496600	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:62457000-62503000	Weak transcription	HSMMtube	muscle
7	chr8:62458000-62497000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:62460200-62495800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:62464000-62494000	Weak transcription	HUVEC	blood vessel
10	chr8:62466800-62508600	Weak transcription	Pancreas	Pancrea
11	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
12	chr8:62474800-62496600	Weak transcription	Placenta	Placenta
13	chr8:62480000-62503600	Weak transcription	NHEK	skin
14	chr8:62481000-62494000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:62484200-62503600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:62487000-62494800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:62487400-62494400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:62487800-62494400	Weak transcription	Colonic Mucosa	Colon
19	chr8:62489000-62502400	Weak transcription	Aorta	Aorta
20	chr8:62489000-62505000	Weak transcription	Fetal Brain Male	brain
21	chr8:62489000-62508200	Weak transcription	Left Ventricle	heart
22	chr8:62489200-62496600	Weak transcription	NHLF	lung
23	chr8:62489200-62505800	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:62489200-62528800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:62489400-62494000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:62491400-62494200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:62491400-62494200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:62491600-62494000	Strong transcription	Adipose Nuclei	Adipose
29	chr8:62491600-62494200	ZNF genes & repeats	Fetal Brain Female	brain
30	chr8:62491600-62494200	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr8:62491800-62494400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:62492200-62494000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr8:62492200-62494000	ZNF genes & repeats	Brain Germinal Matrix	brain
34	chr8:62492200-62494200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:62492400-62494400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:62492400-62497600	Weak transcription	Gastric	stomach
37	chr8:62492600-62494000	ZNF genes & repeats	Brain Anterior Caudate	brain
38	chr8:62492600-62494200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr8:62492600-62494200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr8:62492600-62494200	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr8:62492800-62494200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr8:62492800-62494200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:62492800-62494400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr8:62493000-62494000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
45	chr8:62493000-62494000	Strong transcription	NHDF-Ad	bronchial
46	chr8:62493000-62494200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:62493000-62494200	Strong transcription	Esophagus	oesophagus
48	chr8:62493000-62494200	ZNF genes & repeats	A549	lung
49	chr8:62493000-62494800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:62493000-62495000	Strong transcription	Osteobl	bone

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