Variant report

Variant	rs56216502
Chromosome Location	chr7:152499822-152499823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10464441	0.98[ASN][1000 genomes]
rs10952373	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11762625	0.90[ASN][1000 genomes]
rs11764501	0.88[ASN][1000 genomes]
rs11766953	0.95[ASN][1000 genomes]
rs11768896	0.81[ASN][1000 genomes]
rs11773902	0.89[ASN][1000 genomes]
rs34636157	0.83[ASN][1000 genomes]
rs3864526	0.98[ASN][1000 genomes]
rs55912729	0.95[ASN][1000 genomes]
rs62494966	0.89[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	nsv949483	chr7:151791158-152499822	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1033496	chr7:152125903-152615617	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv539208	chr7:152125903-152615617	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1027100	chr7:152294734-152935140	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv831193	chr7:152353544-152592678	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv532221	chr7:152371297-152884547	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv868873	chr7:152371297-152900113	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152482600-152500000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:152482800-152518600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:152486800-152515000	Weak transcription	Fetal Intestine Small	intestine
4	chr7:152488400-152517800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:152488800-152545600	Weak transcription	Primary T cells from cord blood	blood
6	chr7:152489800-152568800	Weak transcription	Hela-S3	cervix
7	chr7:152491200-152517600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:152491600-152520200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:152493000-152500000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:152493000-152501800	Weak transcription	Psoas Muscle	Psoas
11	chr7:152493000-152518600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:152493200-152517200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:152493200-152517600	Weak transcription	Pancreas	Pancrea
14	chr7:152493200-152518600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:152494200-152500000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:152494400-152517400	Weak transcription	Lung	lung
17	chr7:152494800-152517600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:152495200-152500000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:152496800-152500000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:152497000-152517600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:152497600-152500000	Weak transcription	Fetal Stomach	stomach
22	chr7:152497600-152549200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:152498200-152500000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:152498200-152500000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:152498200-152501600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:152498400-152500000	Weak transcription	Fetal Intestine Large	intestine
27	chr7:152498400-152515800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:152498400-152516000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:152498400-152517600	Weak transcription	Right Ventricle	heart
30	chr7:152498400-152528200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr7:152498400-152556000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:152498400-152559200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr7:152498600-152516800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:152498600-152520000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:152498600-152526800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:152498800-152501600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:152498800-152502800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:152498800-152515600	Weak transcription	Left Ventricle	heart
39	chr7:152498800-152517600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:152498800-152518600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr7:152498800-152518800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:152498800-152520000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:152498800-152520600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr7:152498800-152539600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:152499000-152501600	Weak transcription	Fetal Lung	lung
46	chr7:152499000-152501800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr7:152499000-152517800	Weak transcription	Ovary	ovary
48	chr7:152499200-152501600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:152499200-152546800	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:152499600-152500800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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