Variant report

Variant	rs7585689
Chromosome Location	chr2:179202472-179202473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179192053..179195565-chr2:179199855..179202518,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12471986	1.00[CHB][hapmap]
rs12479027	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12618595	1.00[ASW][hapmap];0.85[GIH][hapmap];0.92[LWK][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs1368903	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1368907	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1434081	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16866260	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]
rs16866263	1.00[CEU][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]
rs16866274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866276	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1821412	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1836205	1.00[ASN][1000 genomes]
rs2366164	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334595	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs334596	1.00[CHB][hapmap]
rs334597	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs334601	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs334605	1.00[JPT][hapmap]
rs334607	1.00[CHB][hapmap]
rs334609	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs334619	1.00[JPT][hapmap]
rs35032920	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894007	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs55633450	1.00[ASN][1000 genomes]
rs55981329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433718	1.00[CHB][hapmap]
rs6433719	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6725937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179183800-179247800	Weak transcription	Psoas Muscle	Psoas
2	chr2:179189800-179217000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:179193000-179214600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:179193200-179210400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:179193200-179216200	Weak transcription	Adipose Nuclei	Adipose
6	chr2:179193400-179203400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:179193400-179204800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:179193400-179215000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:179194600-179229400	Weak transcription	K562	blood
10	chr2:179195400-179214600	Weak transcription	Left Ventricle	heart
11	chr2:179195400-179229000	Weak transcription	Brain Substantia Nigra	brain
12	chr2:179195600-179214200	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:179195600-179214800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:179196200-179207000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:179196600-179204600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:179196600-179213600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:179197000-179209000	Weak transcription	Esophagus	oesophagus
18	chr2:179197800-179204200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:179198400-179227400	Weak transcription	NHEK	skin
20	chr2:179199000-179241200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:179199200-179207400	Weak transcription	Pancreas	Pancrea
22	chr2:179199200-179214400	Weak transcription	Lung	lung
23	chr2:179199200-179214600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:179199600-179240400	Weak transcription	Fetal Stomach	stomach
25	chr2:179200000-179202600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:179200000-179205600	Strong transcription	HMEC	breast
27	chr2:179200600-179203600	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:179200600-179207600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:179201000-179202600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:179201200-179202600	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:179201600-179203200	Weak transcription	Gastric	stomach
32	chr2:179201600-179218400	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:179201800-179206400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:179201800-179214000	Weak transcription	Fetal Brain Female	brain
35	chr2:179201800-179214200	Weak transcription	Brain Angular Gyrus	brain
36	chr2:179201800-179214400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:179201800-179214800	Weak transcription	Brain Germinal Matrix	brain
38	chr2:179201800-179216000	Weak transcription	Right Ventricle	heart
39	chr2:179201800-179216800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:179201800-179217000	Weak transcription	Aorta	Aorta
41	chr2:179201800-179240000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:179201800-179240400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:179201800-179240400	Weak transcription	HSMMtube	muscle
44	chr2:179201800-179253600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:179201800-179268200	Weak transcription	HSMM	muscle
46	chr2:179202000-179216400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:179202400-179203400	Weak transcription	Liver	Liver
48	chr2:179202400-179214600	Weak transcription	Brain Anterior Caudate	brain
49	chr2:179202400-179215000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:179202400-179216400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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