Variant report

Variant	rs2691495
Chromosome Location	chr6:71291872-71291873
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs10455706	0.93[EUR][1000 genomes]
rs10485119	0.85[ASN][1000 genomes]
rs1048886	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10945230	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10945231	0.87[EUR][1000 genomes]
rs10945235	0.91[EUR][1000 genomes]
rs1208480	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12180997	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12191321	0.87[EUR][1000 genomes]
rs12197942	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12197963	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12200777	0.88[EUR][1000 genomes]
rs12201029	0.86[EUR][1000 genomes]
rs12203089	0.88[EUR][1000 genomes]
rs12203298	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12209965	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12216376	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12525538	0.88[EUR][1000 genomes]
rs12526164	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12527634	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12529284	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12529309	0.81[EUR][1000 genomes]
rs12530057	0.81[EUR][1000 genomes]
rs16869338	0.85[ASN][1000 genomes]
rs16869340	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16869353	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16869370	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16869371	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16869373	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16880770	0.85[ASN][1000 genomes]
rs1739338	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2207423	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2293297	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2295200	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2346890	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2639291	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2639297	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2691486	0.97[EUR][1000 genomes]
rs2691488	0.97[EUR][1000 genomes]
rs2691490	0.97[EUR][1000 genomes]
rs2691493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2691494	0.97[EUR][1000 genomes]
rs2691496	0.97[EUR][1000 genomes]
rs2842063	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2842076	0.81[ASN][1000 genomes]
rs2842081	0.97[EUR][1000 genomes]
rs2881632	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3193656	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34246525	0.88[EUR][1000 genomes]
rs35159719	0.81[EUR][1000 genomes]
rs3763252	0.88[ASN][1000 genomes]
rs4283855	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4496758	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55639214	0.88[EUR][1000 genomes]
rs55968813	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56074506	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56114703	0.88[EUR][1000 genomes]
rs56143128	0.80[EUR][1000 genomes]
rs56179165	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56322111	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57435529	0.88[ASN][1000 genomes]
rs57563851	0.90[ASN][1000 genomes]
rs57731996	0.85[ASN][1000 genomes]
rs58370765	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59760243	0.85[ASN][1000 genomes]
rs61223738	0.84[EUR][1000 genomes]
rs6455369	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6455370	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6900840	0.88[EUR][1000 genomes]
rs6901232	0.97[EUR][1000 genomes]
rs6906592	0.88[EUR][1000 genomes]
rs6910903	0.85[ASN][1000 genomes]
rs6911812	0.88[EUR][1000 genomes]
rs6911983	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6913548	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6916974	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6918393	0.86[EUR][1000 genomes]
rs6919794	0.86[EUR][1000 genomes]
rs6920515	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933150	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6939478	0.85[ASN][1000 genomes]
rs6939814	0.85[ASN][1000 genomes]
rs6940416	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6941595	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6942012	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73480261	0.88[ASN][1000 genomes]
rs73480271	0.88[ASN][1000 genomes]
rs73480275	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73480280	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73482601	0.82[ASN][1000 genomes]
rs73484507	0.82[ASN][1000 genomes]
rs73485115	0.85[ASN][1000 genomes]
rs73485116	0.85[ASN][1000 genomes]
rs73485118	0.85[ASN][1000 genomes]
rs73485126	0.85[ASN][1000 genomes]
rs73485133	0.85[ASN][1000 genomes]
rs73485137	0.85[ASN][1000 genomes]
rs73485152	0.85[ASN][1000 genomes]
rs73489063	0.85[ASN][1000 genomes]
rs73489067	0.85[ASN][1000 genomes]
rs73489092	0.85[ASN][1000 genomes]
rs73490322	0.88[ASN][1000 genomes]
rs73490323	0.88[ASN][1000 genomes]
rs73490338	0.87[ASN][1000 genomes]
rs7450771	0.80[EUR][1000 genomes]
rs7739517	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7740873	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7741187	0.85[ASN][1000 genomes]
rs7741265	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752409	0.88[EUR][1000 genomes]
rs7753355	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7756774	0.83[EUR][1000 genomes]
rs7757026	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7769582	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7773794	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9283835	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9294871	0.83[EUR][1000 genomes]
rs9294874	0.88[EUR][1000 genomes]
rs9294876	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9446252	0.84[EUR][1000 genomes]
rs9446258	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9446267	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9455130	0.88[EUR][1000 genomes]
rs9455132	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9455139	0.85[ASN][1000 genomes]
rs9455140	0.85[ASN][1000 genomes]
rs9455144	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9455158	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9455160	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9455161	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9455162	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9455163	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9455167	0.93[ASN][1000 genomes]
rs9455168	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9455176	0.88[ASN][1000 genomes]
rs9455177	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9455178	0.88[ASN][1000 genomes]
rs9455181	0.91[EUR][1000 genomes]
rs9455182	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[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	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv886146	chr6:71219464-71317480	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv886147	chr6:71273253-71471863	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71277200-71292000	Weak transcription	Small Intestine	intestine
2	chr6:71277200-71292400	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:71277200-71294400	Weak transcription	HSMM	muscle
4	chr6:71277200-71296800	Weak transcription	Pancreas	Pancrea
5	chr6:71277200-71300200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:71277200-71303200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:71277200-71310600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:71277400-71294200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:71277400-71294800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:71277400-71295000	Weak transcription	HUVEC	blood vessel
11	chr6:71277400-71299000	Weak transcription	NHDF-Ad	bronchial
12	chr6:71277400-71300600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:71277400-71301800	Weak transcription	HSMMtube	muscle
14	chr6:71277400-71302000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:71277400-71302200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:71277400-71302800	Weak transcription	Thymus	Thymus
17	chr6:71277800-71301800	Weak transcription	HepG2	liver
18	chr6:71277800-71301800	Weak transcription	NHEK	skin
19	chr6:71278000-71305200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:71278200-71308800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:71278400-71294200	Weak transcription	HMEC	breast
22	chr6:71278400-71300800	Weak transcription	Fetal Kidney	kidney
23	chr6:71278600-71293600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:71278600-71308800	Weak transcription	Dnd41	blood
25	chr6:71278800-71298200	Weak transcription	K562	blood
26	chr6:71281800-71298400	Weak transcription	NHLF	lung
27	chr6:71285800-71292400	Weak transcription	Fetal Brain Male	brain
28	chr6:71286000-71297400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr6:71286000-71303200	Weak transcription	Psoas Muscle	Psoas
30	chr6:71286000-71304800	Weak transcription	Gastric	stomach
31	chr6:71286200-71310600	Weak transcription	Right Ventricle	heart
32	chr6:71286800-71293400	Weak transcription	Aorta	Aorta
33	chr6:71286800-71301600	Weak transcription	Lung	lung
34	chr6:71287000-71295000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr6:71287400-71296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:71288400-71301600	Weak transcription	Fetal Heart	heart
37	chr6:71288400-71309800	Weak transcription	Spleen	Spleen
38	chr6:71288600-71298000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr6:71288800-71293000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:71288800-71296400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:71288800-71300600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:71289000-71296000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:71289000-71296200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr6:71289000-71301000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:71289200-71292600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:71289200-71292600	Strong transcription	Brain Anterior Caudate	brain
47	chr6:71289200-71292800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:71289200-71292800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:71289200-71295000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:71289200-71295400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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