Variant report

Variant	rs2044971
Chromosome Location	chr2:208842394-208842395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10192065	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10193505	0.87[EUR][1000 genomes]
rs10193523	0.87[EUR][1000 genomes]
rs10196408	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10198217	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10221788	0.86[JPT][hapmap]
rs1037416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10497891	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10497892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10497894	0.84[EUR][1000 genomes]
rs10804164	0.89[CEU][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs10932217	0.81[JPT][hapmap]
rs10932218	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10932220	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10932221	1.00[CEU][hapmap];0.89[GIH][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10932223	0.85[EUR][1000 genomes]
rs10932225	0.84[EUR][1000 genomes]
rs10932226	0.84[EUR][1000 genomes]
rs11676872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11679374	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs11679492	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11687058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11688041	0.85[EUR][1000 genomes]
rs11688936	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11692908	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11694308	0.87[EUR][1000 genomes]
rs11891423	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12465154	0.84[EUR][1000 genomes]
rs12469400	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12612391	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12694097	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13005382	1.00[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13006024	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13011597	0.96[ASN][1000 genomes]
rs13025100	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13387203	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13402422	0.94[JPT][hapmap]
rs13420900	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13421034	1.00[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1466185	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1545503	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16840362	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16840390	0.87[EUR][1000 genomes]
rs16840392	0.87[EUR][1000 genomes]
rs17598650	0.87[EUR][1000 genomes]
rs1812697	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1965865	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2084870	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2084871	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2100348	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2100349	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2100351	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2123294	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2123295	1.00[ASN][1000 genomes]
rs2362782	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2362783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2362786	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2362788	0.86[EUR][1000 genomes]
rs2362789	0.87[EUR][1000 genomes]
rs2885599	0.88[EUR][1000 genomes]
rs2885600	0.87[EUR][1000 genomes]
rs34025579	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34329895	0.94[ASN][1000 genomes]
rs34335027	0.85[EUR][1000 genomes]
rs34354040	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35086013	0.99[ASN][1000 genomes]
rs35687108	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35726860	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35735821	0.92[ASN][1000 genomes]
rs35783183	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35968595	0.87[EUR][1000 genomes]
rs3795911	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3795912	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4021953	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4441448	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4507086	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4673377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4675722	0.89[EUR][1000 genomes]
rs4675723	0.87[EUR][1000 genomes]
rs4675724	0.87[EUR][1000 genomes]
rs4675725	0.87[EUR][1000 genomes]
rs4675726	0.87[EUR][1000 genomes]
rs56007263	0.87[EUR][1000 genomes]
rs56340702	0.87[EUR][1000 genomes]
rs56812613	0.85[EUR][1000 genomes]
rs60679550	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61116354	0.92[ASN][1000 genomes]
rs62190895	0.92[ASN][1000 genomes]
rs6435401	0.86[JPT][hapmap]
rs6435403	0.89[EUR][1000 genomes]
rs6435404	0.89[EUR][1000 genomes]
rs6711259	0.86[JPT][hapmap]
rs6712527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6718363	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6723557	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6730216	0.86[CHB][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs6731479	0.97[ASN][1000 genomes]
rs6733857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67351199	0.87[EUR][1000 genomes]
rs6741366	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67417299	0.89[EUR][1000 genomes]
rs6757323	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6757327	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7355275	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7559294	0.87[EUR][1000 genomes]
rs7559399	0.85[EUR][1000 genomes]
rs7560222	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7562306	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7570588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7573629	0.87[EUR][1000 genomes]
rs7582996	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7583013	1.00[CEU][hapmap];0.89[GIH][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7585863	0.85[EUR][1000 genomes]
rs7592525	0.84[EUR][1000 genomes]
rs7593972	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7595734	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7595823	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7599531	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7604044	0.88[EUR][1000 genomes]
rs7608939	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7609209	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7609428	0.87[EUR][1000 genomes]
rs764299	0.93[EUR][1000 genomes]
rs896636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs921554	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs921555	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs930746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs966317	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9679132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9789442	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9789446	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9789586	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9789678	1.00[CEU][hapmap];0.84[GIH][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208827400-208857400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:208834000-208842600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:208834000-208864000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:208834800-208865000	Weak transcription	HSMMtube	muscle
5	chr2:208835600-208843200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:208835600-208846600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:208835800-208855400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:208835800-208860800	Weak transcription	Small Intestine	intestine
9	chr2:208836000-208878400	Weak transcription	Fetal Kidney	kidney
10	chr2:208837000-208843000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:208838000-208844200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:208838000-208848800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:208838800-208843200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:208839000-208848000	Weak transcription	GM12878-XiMat	blood
15	chr2:208839200-208844800	Weak transcription	Fetal Heart	heart
16	chr2:208839400-208848000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:208840000-208842400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:208840000-208863800	Weak transcription	Placenta	Placenta
19	chr2:208840400-208842400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr2:208840600-208842400	Strong transcription	Fetal Intestine Large	intestine
21	chr2:208840800-208842400	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr2:208840800-208842400	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:208840800-208842400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr2:208840800-208842400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr2:208840800-208842600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:208840800-208843600	Strong transcription	Primary T cells from cord blood	blood
27	chr2:208841000-208842400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:208841000-208842400	Strong transcription	Primary B cells from cord blood	blood
29	chr2:208841000-208842400	Strong transcription	Brain Germinal Matrix	brain
30	chr2:208841200-208842400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
31	chr2:208841200-208842800	Strong transcription	Fetal Stomach	stomach
32	chr2:208841400-208842400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:208841400-208842400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:208841400-208842400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:208841400-208842400	Strong transcription	Spleen	Spleen
36	chr2:208841400-208842400	Strong transcription	Dnd41	blood
37	chr2:208841600-208842400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:208841600-208864800	Weak transcription	HepG2	liver
39	chr2:208841600-208865200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:208841800-208864800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:208842000-208844000	Weak transcription	Colonic Mucosa	Colon
42	chr2:208842000-208844200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:208842000-208845200	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:208842000-208846200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:208842000-208848600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:208842000-208852000	Weak transcription	Psoas Muscle	Psoas
47	chr2:208842000-208862000	Weak transcription	Fetal Muscle Leg	muscle
48	chr2:208842000-208864200	Weak transcription	Fetal Thymus	thymus
49	chr2:208842200-208842800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:208842200-208844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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