Variant report

Variant	rs11126369
Chromosome Location	chr2:72718727-72718728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10496184	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10496185	0.85[CEU][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11126367	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11126370	0.82[YRI][hapmap]
rs11126378	0.85[CEU][hapmap];0.82[YRI][hapmap]
rs11675264	0.94[EUR][1000 genomes]
rs11675268	1.00[CEU][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11680197	0.84[YRI][hapmap]
rs11685876	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11689339	0.85[CEU][hapmap];0.86[YRI][hapmap]
rs11689707	0.85[CEU][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11695000	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11695629	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11884162	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11884266	0.84[YRI][hapmap]
rs11892598	0.85[CEU][hapmap];0.86[YRI][hapmap];0.81[EUR][1000 genomes]
rs11897200	0.86[YRI][hapmap]
rs11903908	0.84[YRI][hapmap]
rs12052508	0.83[YRI][hapmap]
rs13016873	0.82[YRI][hapmap]
rs1562361	0.86[YRI][hapmap]
rs17008082	0.84[YRI][hapmap]
rs17008186	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17008188	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17008208	1.00[CEU][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17008241	0.86[CEU][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs17008293	0.86[CEU][hapmap];0.96[YRI][hapmap]
rs17008315	0.84[YRI][hapmap]
rs17263172	1.00[CEU][hapmap]
rs1949377	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2901190	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4852875	0.82[YRI][hapmap]
rs55747300	0.86[EUR][1000 genomes]
rs55825364	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56777837	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58967293	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59176504	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60325013	0.81[EUR][1000 genomes]
rs60563535	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60580301	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6546771	0.81[AFR][1000 genomes]
rs66489235	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6711701	0.81[EUR][1000 genomes]
rs6713143	0.82[YRI][hapmap]
rs6713712	0.86[CEU][hapmap];0.87[YRI][hapmap]
rs6727580	0.81[YRI][hapmap]
rs6733538	0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs6739768	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs6740390	0.85[CEU][hapmap]
rs67491855	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6756070	0.85[CEU][hapmap]
rs72845175	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7557942	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7561471	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7571517	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7575050	0.86[YRI][hapmap]
rs7577244	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7583268	0.84[YRI][hapmap]
rs7604083	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs764766	0.85[CEU][hapmap]

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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72691400-72724200	Weak transcription	Psoas Muscle	Psoas
2	chr2:72691400-72726400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:72691600-72724200	Weak transcription	HUVEC	blood vessel
4	chr2:72691600-72741800	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:72692400-72742000	Weak transcription	Small Intestine	intestine
6	chr2:72692600-72727600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:72699600-72744600	Weak transcription	Liver	Liver
8	chr2:72700200-72742600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:72702600-72727000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:72702600-72727600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:72702600-72743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:72702800-72724800	Weak transcription	Brain Substantia Nigra	brain
13	chr2:72702800-72728200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:72703000-72736400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:72703200-72720200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:72703200-72727600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:72703200-72727800	Weak transcription	NHEK	skin
18	chr2:72703200-72728000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:72703200-72728600	Weak transcription	Right Ventricle	heart
20	chr2:72703200-72731000	Weak transcription	Left Ventricle	heart
21	chr2:72703200-72732600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:72703200-72732600	Weak transcription	Lung	lung
23	chr2:72703200-72735800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:72703200-72742800	Weak transcription	HSMM	muscle
25	chr2:72703200-72743000	Weak transcription	Pancreas	Pancrea
26	chr2:72703200-72743400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:72703200-72743800	Weak transcription	Brain Anterior Caudate	brain
28	chr2:72703400-72728600	Weak transcription	Esophagus	oesophagus
29	chr2:72703400-72729800	Weak transcription	Brain Germinal Matrix	brain
30	chr2:72703400-72729800	Weak transcription	Fetal Stomach	stomach
31	chr2:72703400-72741800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:72703400-72744200	Weak transcription	A549	lung
33	chr2:72703400-72752200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:72703600-72745000	Weak transcription	Fetal Intestine Large	intestine
35	chr2:72704200-72728400	Weak transcription	Fetal Brain Female	brain
36	chr2:72704800-72728400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr2:72706000-72729000	Weak transcription	HepG2	liver
38	chr2:72706200-72721200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:72707000-72720000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:72707000-72725800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:72707200-72724800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:72707800-72731000	Weak transcription	Aorta	Aorta
43	chr2:72707800-72742800	Weak transcription	Fetal Heart	heart
44	chr2:72708000-72725600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:72708000-72727200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:72708000-72728200	Weak transcription	HSMMtube	muscle
47	chr2:72708000-72744600	Weak transcription	Fetal Lung	lung
48	chr2:72708200-72724400	Weak transcription	Brain Angular Gyrus	brain
49	chr2:72708200-72737000	Weak transcription	Ovary	ovary
50	chr2:72708600-72741800	Weak transcription	Stomach Smooth Muscle	stomach

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