Variant report

Variant	rs7588008
Chromosome Location	chr2:153212316-153212317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10497096	0.82[CEU][hapmap]
rs10497100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12185697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12614451	0.82[CEU][hapmap]
rs13004494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13008702	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs13022422	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13023506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13023659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16830853	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs16830964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16830971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16830977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16831007	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16831009	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16831018	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16831034	1.00[CEU][hapmap];0.93[AMR][1000 genomes]
rs2345902	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs34288092	0.83[ASN][1000 genomes]
rs34581620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34635752	0.97[EUR][1000 genomes]
rs35403838	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35589946	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35771051	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35937195	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4664101	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4664104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4664107	1.00[CEU][hapmap];0.93[AMR][1000 genomes]
rs4664571	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4664574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4664576	0.93[AMR][1000 genomes]
rs57720755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71417219	0.92[EUR][1000 genomes]
rs71417220	0.90[EUR][1000 genomes]
rs73967829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73967831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73970604	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7573890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7574699	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7602756	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7602975	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7606289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7606397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693435	chr2:153210444-153219178	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
2	chr2:153194600-153214600	Weak transcription	Gastric	stomach
3	chr2:153196000-153224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:153198200-153214000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:153198600-153214400	Weak transcription	Right Atrium	heart
6	chr2:153200400-153215200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:153200600-153225600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:153200800-153212600	Weak transcription	Fetal Intestine Large	intestine
9	chr2:153200800-153215800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:153200800-153222000	Weak transcription	Placenta	Placenta
11	chr2:153200800-153225800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:153201600-153216000	Weak transcription	Fetal Lung	lung
13	chr2:153202400-153219800	Weak transcription	Hela-S3	cervix
14	chr2:153202400-153225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:153203000-153223800	Weak transcription	Fetal Stomach	stomach
16	chr2:153203000-153233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:153205200-153216000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:153205400-153223800	Weak transcription	HMEC	breast
19	chr2:153206600-153214400	Weak transcription	Left Ventricle	heart
20	chr2:153206800-153215600	Weak transcription	Pancreas	Pancrea
21	chr2:153206800-153240800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:153207000-153214400	Weak transcription	Lung	lung
23	chr2:153207000-153223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
25	chr2:153208400-153212600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:153208400-153212600	Enhancers	Brain Substantia Nigra	brain
27	chr2:153208400-153212800	Enhancers	Brain Angular Gyrus	brain
28	chr2:153208400-153212800	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:153208400-153212800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:153209400-153237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:153209600-153212400	Enhancers	A549	lung
32	chr2:153209800-153225200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:153210000-153212400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:153210200-153212400	Enhancers	Brain Germinal Matrix	brain
35	chr2:153210400-153212400	Enhancers	Osteobl	bone
36	chr2:153210600-153212600	Enhancers	Fetal Brain Male	brain
37	chr2:153210800-153212600	Weak transcription	Psoas Muscle	Psoas
38	chr2:153210800-153213200	Enhancers	Fetal Brain Female	brain
39	chr2:153210800-153223200	Weak transcription	Ovary	ovary
40	chr2:153211000-153223200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:153211200-153212400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:153211400-153212400	Enhancers	Adipose Nuclei	Adipose
43	chr2:153211600-153212400	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr2:153211600-153212800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:153211600-153213000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:153211800-153212400	Enhancers	NHDF-Ad	bronchial
47	chr2:153211800-153212600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:153212000-153212400	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr2:153212000-153212400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr2:153212000-153212800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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