Variant report

Variant	rs2811599
Chromosome Location	chr1:93335788-93335789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 175 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs1017008	0.85[EUR][1000 genomes]
rs10218567	0.85[EUR][1000 genomes]
rs10218670	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10493863	0.82[CHD][hapmap]
rs10735782	0.83[EUR][1000 genomes]
rs10735783	1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs10735784	0.88[EUR][1000 genomes]
rs10747447	0.83[EUR][1000 genomes]
rs10747448	0.83[EUR][1000 genomes]
rs10747449	0.83[EUR][1000 genomes]
rs10747450	0.83[EUR][1000 genomes]
rs10747451	0.85[EUR][1000 genomes]
rs10747452	0.83[EUR][1000 genomes]
rs10782938	0.83[EUR][1000 genomes]
rs10782940	0.83[EUR][1000 genomes]
rs10782942	0.88[EUR][1000 genomes]
rs10782944	1.00[CHB][hapmap];0.82[CHD][hapmap];0.84[EUR][1000 genomes]
rs10874728	0.83[EUR][1000 genomes]
rs10874729	0.83[EUR][1000 genomes]
rs10874730	0.83[EUR][1000 genomes]
rs10874731	0.83[EUR][1000 genomes]
rs10874742	0.84[EUR][1000 genomes]
rs10874744	0.82[CHD][hapmap]
rs11164790	0.82[EUR][1000 genomes]
rs11164799	0.86[EUR][1000 genomes]
rs11164804	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs11164805	0.88[EUR][1000 genomes]
rs11164806	0.85[EUR][1000 genomes]
rs11164808	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs11164809	0.88[EUR][1000 genomes]
rs11164812	0.91[EUR][1000 genomes]
rs11164813	0.89[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs11164821	0.84[EUR][1000 genomes]
rs11164835	0.82[CHD][hapmap]
rs11164845	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1182640	0.88[EUR][1000 genomes]
rs12029026	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12045019	0.83[EUR][1000 genomes]
rs12066638	0.90[CHD][hapmap]
rs1337108	0.88[EUR][1000 genomes]
rs1337109	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs1411706	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1415294	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1415295	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1538029	0.83[EUR][1000 genomes]
rs1610319	0.91[EUR][1000 genomes]
rs1929138	0.84[EUR][1000 genomes]
rs1932965	0.83[EUR][1000 genomes]
rs1932966	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1932967	0.88[EUR][1000 genomes]
rs1977224	0.82[EUR][1000 genomes]
rs1999819	0.85[EUR][1000 genomes]
rs2025100	1.00[CHB][hapmap];0.82[CHD][hapmap];0.84[EUR][1000 genomes]
rs2025101	0.88[EUR][1000 genomes]
rs2065916	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2065917	0.85[EUR][1000 genomes]
rs2077529	0.86[EUR][1000 genomes]
rs2097838	0.85[EUR][1000 genomes]
rs2107520	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs2107521	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs2158446	0.88[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs2180977	0.88[EUR][1000 genomes]
rs2244005	1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2244496	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2244588	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2255723	0.90[CHD][hapmap]
rs2263247	0.90[CHD][hapmap]
rs2298912	0.88[EUR][1000 genomes]
rs2391177	0.90[CHD][hapmap]
rs2391179	0.87[EUR][1000 genomes]
rs2391194	0.88[EUR][1000 genomes]
rs2391196	0.88[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs2391199	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2391200	0.86[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2391201	0.85[EUR][1000 genomes]
rs2481713	0.90[CHD][hapmap]
rs2774940	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2774941	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2774943	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2774947	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811593	0.90[CHD][hapmap]
rs2811600	0.90[CHD][hapmap]
rs2811602	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2989014	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35054144	0.89[CEU][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[EUR][1000 genomes]
rs3790444	1.00[JPT][hapmap]
rs3790445	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs3790446	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs3936946	0.83[EUR][1000 genomes]
rs4000726	0.83[EUR][1000 genomes]
rs4000727	0.82[EUR][1000 genomes]
rs4120650	0.83[EUR][1000 genomes]
rs4240962	1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs4264007	0.88[EUR][1000 genomes]
rs4417075	0.83[EUR][1000 genomes]
rs4525050	0.88[EUR][1000 genomes]
rs4638137	0.88[EUR][1000 genomes]
rs4847217	0.88[EUR][1000 genomes]
rs4847221	1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[EUR][1000 genomes]
rs4847222	0.84[EUR][1000 genomes]
rs4847247	0.83[EUR][1000 genomes]
rs4847266	0.88[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4847285	0.88[EUR][1000 genomes]
rs4847304	0.88[EUR][1000 genomes]
rs4847309	0.88[EUR][1000 genomes]
rs4847310	0.88[EUR][1000 genomes]
rs4847363	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs4847370	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes]
rs4847427	0.83[EUR][1000 genomes]
rs6604000	0.83[EUR][1000 genomes]
rs6604003	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs6604004	0.85[EUR][1000 genomes]
rs6604006	0.82[EUR][1000 genomes]
rs6604010	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs6604012	0.88[EUR][1000 genomes]
rs6604015	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs6604018	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs6604022	0.88[EUR][1000 genomes]
rs6604025	0.84[EUR][1000 genomes]
rs6659942	1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.84[EUR][1000 genomes]
rs6660296	0.88[EUR][1000 genomes]
rs6661600	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs6665121	0.81[EUR][1000 genomes]
rs6665579	0.88[EUR][1000 genomes]
rs6669914	0.86[EUR][1000 genomes]
rs6671421	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs6676454	0.88[EUR][1000 genomes]
rs6679839	0.85[EUR][1000 genomes]
rs6685705	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs6687994	0.84[EUR][1000 genomes]
rs6693371	0.91[EUR][1000 genomes]
rs6696636	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6698233	0.90[CHD][hapmap]
rs6703467	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs723909	0.88[EUR][1000 genomes]
rs72728629	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7416169	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7513815	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs7515257	0.82[CHD][hapmap]
rs7516141	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs7519694	0.81[EUR][1000 genomes]
rs7521345	0.88[EUR][1000 genomes]
rs7526582	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7527356	0.84[EUR][1000 genomes]
rs7527835	0.85[EUR][1000 genomes]
rs7529332	0.83[EUR][1000 genomes]
rs7529630	0.83[EUR][1000 genomes]
rs7532731	0.95[EUR][1000 genomes]
rs7540407	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7541829	0.84[EUR][1000 genomes]
rs7543077	0.84[EUR][1000 genomes]
rs7543112	0.84[EUR][1000 genomes]
rs7543327	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs7543964	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7549844	0.88[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs7551340	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7551880	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs7552085	0.88[EUR][1000 genomes]
rs7554183	0.83[EUR][1000 genomes]
rs7554868	0.88[EUR][1000 genomes]
rs757469	0.88[EUR][1000 genomes]
rs914064	0.85[EUR][1000 genomes]
rs927339	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs932637	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9439917	0.83[EUR][1000 genomes]
rs9439920	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs9439924	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs945724	0.89[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs9651257	0.82[CHD][hapmap]
rs9662515	0.84[EUR][1000 genomes]
rs976208	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs976209	0.88[EUR][1000 genomes]
rs980940	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv508393	chr1:93290513-93344924	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93304400-93349000	Weak transcription	Aorta	Aorta
2	chr1:93309800-93342400	Weak transcription	NHLF	lung
3	chr1:93314400-93338000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:93316000-93342800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:93316200-93338200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:93316200-93338400	Weak transcription	Fetal Stomach	stomach
7	chr1:93318600-93338200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:93320400-93342000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:93324400-93338200	Weak transcription	Fetal Intestine Small	intestine
10	chr1:93325000-93337800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:93325000-93338200	Weak transcription	HMEC	breast
12	chr1:93325000-93342800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:93325000-93343000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:93325200-93338000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:93325200-93338000	Weak transcription	A549	lung
16	chr1:93325200-93338000	Weak transcription	GM12878-XiMat	blood
17	chr1:93325200-93338200	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:93325200-93338400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:93325200-93339200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:93325200-93342800	Weak transcription	Liver	Liver
21	chr1:93325200-93343600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:93325200-93348400	Weak transcription	NHEK	skin
23	chr1:93325400-93338400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:93325400-93342000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:93325400-93343400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:93325600-93338200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:93325600-93339800	Weak transcription	Brain Anterior Caudate	brain
28	chr1:93325600-93343200	Weak transcription	HSMMtube	muscle
29	chr1:93325800-93340000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:93326000-93338200	Weak transcription	Dnd41	blood
31	chr1:93326000-93339800	Weak transcription	Brain Angular Gyrus	brain
32	chr1:93328600-93338200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:93328600-93342600	Weak transcription	NHDF-Ad	bronchial
34	chr1:93328800-93338200	Weak transcription	Adipose Nuclei	Adipose
35	chr1:93329800-93336200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:93331200-93338000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:93332000-93340600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:93333000-93348600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:93333600-93343000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:93333800-93338200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr1:93334000-93336200	Weak transcription	Primary B cells from cord blood	blood
42	chr1:93334000-93336400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr1:93334200-93337000	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:93334800-93335800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr1:93334800-93336400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr1:93334800-93336400	Enhancers	Thymus	Thymus
47	chr1:93335000-93335800	Enhancers	Primary T cells from cord blood	blood
48	chr1:93335000-93335800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr1:93335200-93336200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr1:93335400-93343000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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