Variant report

Variant	rs7591590
Chromosome Location	chr2:153609090-153609091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10497113	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931263	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931271	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931279	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1135617	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674911	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694512	0.84[ASN][1000 genomes]
rs11901227	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475871	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12478681	0.84[ASN][1000 genomes]
rs12693429	0.84[ASN][1000 genomes]
rs12989903	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995388	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12999331	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13003670	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13006652	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014141	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017131	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022436	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023779	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13023975	0.81[EUR][1000 genomes]
rs1370499	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16831440	0.81[EUR][1000 genomes]
rs16831456	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17328776	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400456	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17400938	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400952	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400980	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083097	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2346551	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34199006	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34454505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34469468	0.82[EUR][1000 genomes]
rs34619076	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34775858	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35002744	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35421285	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35754252	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35894330	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35937874	0.90[EUR][1000 genomes]
rs36107565	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36122595	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811568	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3811569	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4575677	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434172	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66492085	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66849546	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6728189	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736003	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71417232	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71417235	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72871148	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7598878	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv875293	chr2:153578900-153617420	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv834422	chr2:153589448-153743069	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv875294	chr2:153607506-153733325	Strong transcription Weak 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153575800-153611600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:153575800-153611600	Weak transcription	Esophagus	oesophagus
3	chr2:153575800-153621400	Weak transcription	Pancreas	Pancrea
4	chr2:153576000-153615800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:153577200-153617600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:153577600-153617800	Weak transcription	NHLF	lung
7	chr2:153582000-153610600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:153583000-153611600	Weak transcription	Lung	lung
9	chr2:153587400-153610600	Weak transcription	Small Intestine	intestine
10	chr2:153587600-153618000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:153587600-153621600	Weak transcription	NHEK	skin
12	chr2:153588000-153617800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:153588200-153618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:153588600-153619400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:153589400-153613600	Weak transcription	Brain Angular Gyrus	brain
16	chr2:153590200-153616800	Weak transcription	Right Ventricle	heart
17	chr2:153590400-153620400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:153591000-153611800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:153592200-153618800	Weak transcription	HSMMtube	muscle
20	chr2:153593200-153618800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:153593200-153628400	Weak transcription	Fetal Kidney	kidney
22	chr2:153593600-153617000	Weak transcription	Brain Anterior Caudate	brain
23	chr2:153593600-153618600	Weak transcription	Osteobl	bone
24	chr2:153593600-153621800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:153593800-153613400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:153593800-153617600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:153593800-153617600	Weak transcription	NH-A	brain
28	chr2:153593800-153620000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:153593800-153621400	Weak transcription	HMEC	breast
30	chr2:153593800-153621600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:153594200-153613400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:153594400-153615000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:153595200-153616800	Weak transcription	Colonic Mucosa	Colon
34	chr2:153595200-153618000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:153595200-153618000	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:153595200-153621800	Weak transcription	Aorta	Aorta
37	chr2:153595200-153622000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:153595400-153613400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:153595400-153618400	Weak transcription	Left Ventricle	heart
40	chr2:153595400-153621600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:153595600-153613600	Weak transcription	Gastric	stomach
42	chr2:153596400-153619400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:153596600-153610400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:153596600-153611400	Weak transcription	Adipose Nuclei	Adipose
45	chr2:153596600-153611600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:153596600-153617800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:153596600-153621400	Weak transcription	Ovary	ovary
48	chr2:153596600-153621400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:153596800-153611400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:153596800-153616000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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