Variant report

Variant	rs7576323
Chromosome Location	chr2:187382906-187382907
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	chr2:187381247..187383306-chr2:187384727..187387311,2	K562	blood:
2	chr2:187380709..187383265-chr2:187491364..187493572,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10172850	0.80[ASN][1000 genomes]
rs10192067	0.87[ASN][1000 genomes]
rs10210844	0.95[JPT][hapmap]
rs1026118	0.95[JPT][hapmap]
rs12473076	0.81[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12476313	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12612249	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12992288	0.87[CEU][hapmap]
rs12993773	0.82[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs12997583	0.95[JPT][hapmap]
rs12998229	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12999247	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12999438	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13001360	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13003337	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13011581	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13017038	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13018154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13025505	0.82[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13029766	0.84[ASN][1000 genomes]
rs13029818	0.88[ASN][1000 genomes]
rs13030324	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1349154	0.96[JPT][hapmap]
rs1448854	0.95[JPT][hapmap]
rs1451874	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1470230	0.80[ASN][1000 genomes]
rs1562646	0.95[JPT][hapmap]
rs2044919	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs2084485	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2084486	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2119865	0.80[CHB][hapmap];0.96[JPT][hapmap]
rs2122087	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2165655	0.92[CEU][hapmap]
rs2305409	0.80[CHB][hapmap];0.96[JPT][hapmap];0.80[ASN][1000 genomes]
rs3768775	0.80[CHB][hapmap];0.96[JPT][hapmap];0.80[ASN][1000 genomes]
rs3768776	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs4144785	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4144786	0.80[ASN][1000 genomes]
rs4666703	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4666705	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs4667092	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4667095	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4667100	0.86[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs4667101	0.80[ASN][1000 genomes]
rs4667102	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs4667103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434179	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6434182	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6434183	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6434184	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6712627	0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6717081	0.96[JPT][hapmap]
rs6734700	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740632	0.95[JPT][hapmap]
rs6741184	0.80[ASN][1000 genomes]
rs6754179	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7562659	0.95[JPT][hapmap]
rs7568700	0.80[CHB][hapmap];0.96[JPT][hapmap];0.86[ASN][1000 genomes]
rs7573296	0.83[AMR][1000 genomes]
rs7581081	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7581978	0.82[EUR][1000 genomes]
rs7586276	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7591153	0.92[CEU][hapmap]
rs7593093	0.81[ASN][1000 genomes]
rs7597285	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs988110	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187357400-187383000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:187357600-187386200	Strong transcription	Dnd41	blood
3	chr2:187358600-187385800	Weak transcription	Esophagus	oesophagus
4	chr2:187359600-187386400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:187359800-187387200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:187360000-187386800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:187361200-187385600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:187361400-187389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:187363000-187385600	Weak transcription	Aorta	Aorta
10	chr2:187363000-187387800	Weak transcription	Pancreas	Pancrea
11	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:187363200-187397600	Weak transcription	Small Intestine	intestine
13	chr2:187367200-187385600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:187367200-187396800	Weak transcription	Gastric	stomach
15	chr2:187367200-187405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:187369200-187383400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:187370800-187385600	Weak transcription	Fetal Stomach	stomach
18	chr2:187370800-187385600	Weak transcription	Spleen	Spleen
19	chr2:187370800-187385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:187370800-187385800	Weak transcription	Lung	lung
21	chr2:187370800-187386800	Weak transcription	Stomach Mucosa	stomach
22	chr2:187371000-187385800	Weak transcription	Thymus	Thymus
23	chr2:187371000-187389400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:187371000-187395800	Weak transcription	Fetal Heart	heart
25	chr2:187371000-187407800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:187371400-187385600	Weak transcription	Ovary	ovary
27	chr2:187372200-187390000	Weak transcription	Fetal Brain Male	brain
28	chr2:187373600-187385600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:187373600-187385600	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:187373600-187388000	Weak transcription	Psoas Muscle	Psoas
31	chr2:187373600-187395800	Weak transcription	HSMMtube	muscle
32	chr2:187373600-187397600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:187373800-187385800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:187373800-187385800	Weak transcription	Left Ventricle	heart
35	chr2:187373800-187386000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:187373800-187387000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:187373800-187387800	Weak transcription	Right Ventricle	heart
38	chr2:187373800-187390200	Weak transcription	Brain Anterior Caudate	brain
39	chr2:187374000-187385800	Weak transcription	Fetal Brain Female	brain
40	chr2:187374000-187388600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:187374200-187386400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:187374200-187386600	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:187374200-187386600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:187374400-187383000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:187374400-187386400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr2:187374400-187389800	Weak transcription	Brain Germinal Matrix	brain
47	chr2:187374400-187396200	Weak transcription	Brain Substantia Nigra	brain
48	chr2:187374400-187398800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:187374600-187386000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:187374800-187386000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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