Variant report

Variant	rs2691494
Chromosome Location	chr6:71290759-71290760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10214805	0.82[EUR][1000 genomes]
rs10455706	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1048886	0.93[EUR][1000 genomes]
rs10945230	0.82[EUR][1000 genomes]
rs10945231	0.89[EUR][1000 genomes]
rs10945235	0.93[EUR][1000 genomes]
rs1208480	0.83[EUR][1000 genomes]
rs12180997	0.86[EUR][1000 genomes]
rs12191321	0.89[EUR][1000 genomes]
rs12197942	0.82[EUR][1000 genomes]
rs12197963	0.82[EUR][1000 genomes]
rs12200777	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201029	0.88[EUR][1000 genomes]
rs12203089	0.91[EUR][1000 genomes]
rs12203298	0.82[EUR][1000 genomes]
rs12209965	0.82[EUR][1000 genomes]
rs12216376	0.82[EUR][1000 genomes]
rs12525538	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529284	0.81[EUR][1000 genomes]
rs12529309	0.83[EUR][1000 genomes]
rs12530057	0.83[EUR][1000 genomes]
rs16869340	0.89[EUR][1000 genomes]
rs16869353	0.81[EUR][1000 genomes]
rs16869370	0.90[EUR][1000 genomes]
rs16869371	0.81[EUR][1000 genomes]
rs16869373	0.81[EUR][1000 genomes]
rs1739338	0.85[EUR][1000 genomes]
rs2293297	0.81[EUR][1000 genomes]
rs2639291	0.85[EUR][1000 genomes]
rs2639297	0.87[EUR][1000 genomes]
rs2691486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2691488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2691490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2691493	0.97[EUR][1000 genomes]
rs2691495	0.97[EUR][1000 genomes]
rs2691496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842063	0.88[EUR][1000 genomes]
rs2842081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2881632	0.92[EUR][1000 genomes]
rs3193656	0.81[EUR][1000 genomes]
rs34246525	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35159719	0.83[EUR][1000 genomes]
rs4283855	0.85[EUR][1000 genomes]
rs4496758	0.87[EUR][1000 genomes]
rs55639214	0.91[EUR][1000 genomes]
rs56074506	0.81[EUR][1000 genomes]
rs56114703	0.91[EUR][1000 genomes]
rs56143128	0.82[EUR][1000 genomes]
rs56179165	0.81[EUR][1000 genomes]
rs56322111	0.81[EUR][1000 genomes]
rs58370765	0.90[EUR][1000 genomes]
rs61223738	0.82[EUR][1000 genomes]
rs6455369	0.82[EUR][1000 genomes]
rs6455370	0.89[EUR][1000 genomes]
rs6900840	0.85[EUR][1000 genomes]
rs6901232	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906592	0.85[EUR][1000 genomes]
rs6911812	0.85[EUR][1000 genomes]
rs6911983	0.81[EUR][1000 genomes]
rs6916974	0.81[EUR][1000 genomes]
rs6918393	0.83[EUR][1000 genomes]
rs6919794	0.83[EUR][1000 genomes]
rs6920515	0.93[EUR][1000 genomes]
rs6940416	0.90[EUR][1000 genomes]
rs6941595	0.81[EUR][1000 genomes]
rs6942012	0.89[EUR][1000 genomes]
rs73480275	0.82[EUR][1000 genomes]
rs73480280	0.82[EUR][1000 genomes]
rs7450771	0.82[EUR][1000 genomes]
rs7739517	0.83[EUR][1000 genomes]
rs7740873	0.86[EUR][1000 genomes]
rs7741265	0.88[EUR][1000 genomes]
rs7752409	0.85[EUR][1000 genomes]
rs7753355	0.87[EUR][1000 genomes]
rs7756774	0.81[EUR][1000 genomes]
rs7757026	0.82[EUR][1000 genomes]
rs7769582	0.87[EUR][1000 genomes]
rs7773794	0.83[EUR][1000 genomes]
rs9283835	0.87[EUR][1000 genomes]
rs9294871	0.81[EUR][1000 genomes]
rs9294874	0.85[EUR][1000 genomes]
rs9294876	0.89[EUR][1000 genomes]
rs9446252	0.82[EUR][1000 genomes]
rs9446258	0.83[EUR][1000 genomes]
rs9446267	0.89[EUR][1000 genomes]
rs9455130	0.85[EUR][1000 genomes]
rs9455132	0.83[EUR][1000 genomes]
rs9455144	0.88[EUR][1000 genomes]
rs9455150	0.82[EUR][1000 genomes]
rs9455151	0.82[EUR][1000 genomes]
rs9455158	0.89[EUR][1000 genomes]
rs9455160	0.89[EUR][1000 genomes]
rs9455161	0.81[EUR][1000 genomes]
rs9455162	0.82[EUR][1000 genomes]
rs9455163	0.82[EUR][1000 genomes]
rs9455168	0.93[EUR][1000 genomes]
rs9455177	0.91[EUR][1000 genomes]
rs9455181	0.93[EUR][1000 genomes]
rs9455182	0.91[EUR][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	chr6:71277600-71291000	Weak transcription	Fetal Thymus	thymus
18	chr6:71277800-71291200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:71277800-71291800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:71277800-71301800	Weak transcription	HepG2	liver
21	chr6:71277800-71301800	Weak transcription	NHEK	skin
22	chr6:71278000-71305200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr6:71278200-71291000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:71278200-71308800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:71278400-71294200	Weak transcription	HMEC	breast
26	chr6:71278400-71300800	Weak transcription	Fetal Kidney	kidney
27	chr6:71278600-71291000	Weak transcription	GM12878-XiMat	blood
28	chr6:71278600-71293600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:71278600-71308800	Weak transcription	Dnd41	blood
30	chr6:71278800-71298200	Weak transcription	K562	blood
31	chr6:71279800-71291200	Weak transcription	Fetal Brain Female	brain
32	chr6:71280200-71291800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:71281800-71298400	Weak transcription	NHLF	lung
34	chr6:71285800-71292400	Weak transcription	Fetal Brain Male	brain
35	chr6:71286000-71291200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:71286000-71297400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:71286000-71303200	Weak transcription	Psoas Muscle	Psoas
38	chr6:71286000-71304800	Weak transcription	Gastric	stomach
39	chr6:71286200-71310600	Weak transcription	Right Ventricle	heart
40	chr6:71286800-71293400	Weak transcription	Aorta	Aorta
41	chr6:71286800-71301600	Weak transcription	Lung	lung
42	chr6:71287000-71295000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr6:71287200-71291000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:71287400-71296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:71288400-71301600	Weak transcription	Fetal Heart	heart
46	chr6:71288400-71309800	Weak transcription	Spleen	Spleen
47	chr6:71288600-71298000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr6:71288800-71293000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:71288800-71296400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:71288800-71300600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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