Variant report

Variant	rs11682917
Chromosome Location	chr2:184042534-184042535
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10497620	0.91[ASN][1000 genomes]
rs1462534	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16823717	0.82[EUR][1000 genomes]
rs16823721	0.82[EUR][1000 genomes]
rs16823723	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16823970	0.82[EUR][1000 genomes]
rs16823971	0.82[EUR][1000 genomes]
rs16823974	0.82[EUR][1000 genomes]
rs16824001	0.84[EUR][1000 genomes]
rs16824018	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16824025	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16824033	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16824048	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16824058	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16824059	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16824095	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16824106	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17706149	0.95[ASN][1000 genomes]
rs1997486	0.91[ASN][1000 genomes]
rs2017742	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2176232	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2368372	1.00[EUR][1000 genomes]
rs2368373	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35453132	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3748879	0.82[EUR][1000 genomes]
rs3748881	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3748882	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3762476	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4372840	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4606882	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4666611	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4666612	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4666620	0.95[ASN][1000 genomes]
rs4666890	0.95[ASN][1000 genomes]
rs4666892	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4666896	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4666898	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55942934	0.82[EUR][1000 genomes]
rs56271556	0.82[EUR][1000 genomes]
rs56402172	0.91[ASN][1000 genomes]
rs59041013	0.82[EUR][1000 genomes]
rs61283216	0.82[EUR][1000 genomes]
rs61526412	0.82[EUR][1000 genomes]
rs72892678	0.91[ASN][1000 genomes]
rs72892681	0.91[ASN][1000 genomes]
rs72892682	0.91[ASN][1000 genomes]
rs72892683	0.91[ASN][1000 genomes]
rs72892686	0.89[ASN][1000 genomes]
rs72892687	0.89[ASN][1000 genomes]
rs72892688	0.91[ASN][1000 genomes]
rs72892690	0.91[ASN][1000 genomes]
rs72894514	0.91[ASN][1000 genomes]
rs72894558	0.91[ASN][1000 genomes]
rs72896596	0.95[ASN][1000 genomes]
rs72896599	0.95[ASN][1000 genomes]
rs73036601	0.82[EUR][1000 genomes]
rs7591252	0.95[ASN][1000 genomes]
rs9333281	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9333283	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875486	chr2:184016627-184095979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv213440	chr2:184039066-184044985	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
2	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
6	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
7	chr2:184009000-184043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:184009200-184043600	Weak transcription	Psoas Muscle	Psoas
9	chr2:184009200-184048400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:184009400-184047200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:184015000-184062000	Weak transcription	Small Intestine	intestine
12	chr2:184018400-184047400	Weak transcription	Pancreas	Pancrea
13	chr2:184019000-184043600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:184019000-184050000	Weak transcription	Gastric	stomach
15	chr2:184019000-184053400	Weak transcription	Placenta	Placenta
16	chr2:184026000-184054600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:184026000-184057600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:184026600-184043200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:184026600-184058800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:184026800-184047400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:184027600-184057600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:184028600-184045600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:184028800-184043200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:184028800-184043600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:184029000-184047400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:184029200-184043000	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:184029200-184043200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:184029200-184043600	Weak transcription	Right Ventricle	heart
29	chr2:184029200-184047200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:184029200-184047200	Weak transcription	HepG2	liver
31	chr2:184029200-184047400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:184029200-184047400	Weak transcription	HSMM	muscle
33	chr2:184029200-184050000	Weak transcription	HUVEC	blood vessel
34	chr2:184029200-184054800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:184029200-184062800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:184029400-184043400	Weak transcription	Adipose Nuclei	Adipose
37	chr2:184029400-184043400	Weak transcription	Left Ventricle	heart
38	chr2:184029400-184043400	Weak transcription	Ovary	ovary
39	chr2:184029400-184043600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:184029400-184043600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:184029400-184043600	Weak transcription	Lung	lung
42	chr2:184029400-184043800	Weak transcription	NH-A	brain
43	chr2:184029400-184045800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:184029400-184047400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:184029400-184047400	Weak transcription	K562	blood
46	chr2:184029400-184050200	Weak transcription	Osteobl	bone
47	chr2:184029400-184053000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:184029600-184043200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr2:184029600-184043400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:184029600-184047200	Weak transcription	Primary B cells from cord blood	blood

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