Variant report

Variant	rs2511454
Chromosome Location	chr11:77630682-77630683
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10899415	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899417	0.84[EUR][1000 genomes]
rs11534589	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11559637	0.81[EUR][1000 genomes]
rs11601908	0.82[EUR][1000 genomes]
rs11823006	0.82[EUR][1000 genomes]
rs12786047	0.81[EUR][1000 genomes]
rs12789522	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12796422	0.81[EUR][1000 genomes]
rs12801444	0.82[EUR][1000 genomes]
rs1790238	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1790244	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1790245	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1790256	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1790258	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1793329	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1793331	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1793338	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1793344	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2276349	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2510964	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3018156	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3018158	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3018167	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3018411	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6592748	0.85[EUR][1000 genomes]
rs6592751	0.81[EUR][1000 genomes]
rs7115539	0.80[EUR][1000 genomes]
rs7119390	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7120314	0.81[EUR][1000 genomes]
rs7124835	0.81[EUR][1000 genomes]
rs7939854	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7950529	0.81[EUR][1000 genomes]
rs9704476	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1035753	chr11:77577384-77866386	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv541093	chr11:77577384-77866386	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv975205	chr11:77628075-77671380	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77577400-77630800	Weak transcription	Fetal Heart	heart
2	chr11:77583400-77670600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:77583400-77690000	Weak transcription	Colonic Mucosa	Colon
4	chr11:77591800-77650400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:77592800-77690000	Weak transcription	Small Intestine	intestine
6	chr11:77595800-77671000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:77597800-77633800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:77597800-77644200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:77597800-77644400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:77597800-77669800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:77597800-77671000	Weak transcription	Fetal Brain Male	brain
12	chr11:77597800-77678200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:77597800-77690000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:77597800-77690000	Weak transcription	Esophagus	oesophagus
15	chr11:77597800-77690000	Weak transcription	Gastric	stomach
16	chr11:77602000-77640600	Weak transcription	K562	blood
17	chr11:77602600-77644200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:77602800-77690000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:77603000-77637400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:77603200-77650200	Weak transcription	Fetal Brain Female	brain
21	chr11:77604800-77644200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:77612600-77637000	Weak transcription	Brain Anterior Caudate	brain
23	chr11:77614800-77638800	Weak transcription	Brain Angular Gyrus	brain
24	chr11:77614800-77700200	Weak transcription	Psoas Muscle	Psoas
25	chr11:77615000-77644200	Weak transcription	Spleen	Spleen
26	chr11:77615000-77656400	Weak transcription	Right Ventricle	heart
27	chr11:77615200-77637400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:77618200-77668200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:77618800-77635000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:77618800-77637200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:77618800-77644200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:77619000-77636600	Weak transcription	Placenta	Placenta
33	chr11:77619000-77667000	Weak transcription	Fetal Kidney	kidney
34	chr11:77619000-77668000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:77619200-77637200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:77619200-77637400	Weak transcription	GM12878-XiMat	blood
37	chr11:77620800-77642000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:77621800-77631200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr11:77622200-77635600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:77622600-77636800	Weak transcription	Primary B cells from cord blood	blood
41	chr11:77622800-77634000	Weak transcription	Fetal Intestine Large	intestine
42	chr11:77625800-77665600	Weak transcription	HSMMtube	muscle
43	chr11:77625800-77697400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:77626000-77635600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr11:77626000-77638000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:77626000-77666200	Weak transcription	Brain Substantia Nigra	brain
47	chr11:77626000-77690000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:77626200-77641600	Weak transcription	Osteobl	bone
49	chr11:77626200-77665400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:77626200-77689400	Weak transcription	Colon Smooth Muscle	Colon

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