Variant report

Variant	rs4237045
Chromosome Location	chr8:62487467-62487468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11786642	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12674527	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1320082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13273044	0.88[CHB][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1809764	0.85[JPT][hapmap]
rs1994851	0.85[JPT][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs1994852	0.85[JPT][hapmap]
rs2172495	0.85[JPT][hapmap]
rs4367528	0.85[JPT][hapmap]
rs62506121	0.84[ASN][1000 genomes]
rs7819486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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

No data

Chromatin state (count:84 , 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	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
4	chr8:62442600-62493200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:62449800-62503600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:62456000-62491600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:62456600-62492800	Weak transcription	Small Intestine	intestine
8	chr8:62456600-62503800	Weak transcription	Stomach Mucosa	stomach
9	chr8:62457000-62496600	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:62457000-62503000	Weak transcription	HSMMtube	muscle
11	chr8:62457800-62488400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:62458000-62497000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:62458800-62491000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:62460200-62495800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:62464000-62492400	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:62464000-62492600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:62464000-62494000	Weak transcription	HUVEC	blood vessel
18	chr8:62464400-62492600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:62465000-62488400	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:62465000-62488600	Weak transcription	Brain Anterior Caudate	brain
21	chr8:62466600-62490200	Weak transcription	K562	blood
22	chr8:62466800-62508600	Weak transcription	Pancreas	Pancrea
23	chr8:62467600-62492600	Weak transcription	Spleen	Spleen
24	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
25	chr8:62470800-62491600	Weak transcription	Fetal Brain Female	brain
26	chr8:62472800-62488200	Weak transcription	Fetal Intestine Small	intestine
27	chr8:62473000-62490600	Weak transcription	Fetal Intestine Large	intestine
28	chr8:62474800-62493400	Weak transcription	HMEC	breast
29	chr8:62474800-62496600	Weak transcription	Placenta	Placenta
30	chr8:62476200-62492200	Weak transcription	Brain Germinal Matrix	brain
31	chr8:62476600-62488000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:62479800-62489600	Weak transcription	Thymus	Thymus
33	chr8:62480000-62487800	Weak transcription	Hela-S3	cervix
34	chr8:62480000-62492600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:62480000-62503600	Weak transcription	NHEK	skin
36	chr8:62480400-62487600	Weak transcription	HepG2	liver
37	chr8:62480600-62488400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:62480600-62488400	Weak transcription	Left Ventricle	heart
39	chr8:62480600-62490600	Weak transcription	Psoas Muscle	Psoas
40	chr8:62480800-62488400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:62480800-62493200	Weak transcription	Primary T cells from cord blood	blood
42	chr8:62481000-62487600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:62481000-62494000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:62481600-62492600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:62481600-62493000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr8:62481600-62493400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr8:62481800-62488200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:62481800-62493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:62482400-62488600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr8:62484200-62503600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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