Variant report

Variant	rs11715514
Chromosome Location	chr3:142194036-142194037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10935463	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1129391	0.82[EUR][1000 genomes]
rs11708470	0.90[EUR][1000 genomes]
rs11916455	0.90[EUR][1000 genomes]
rs11923612	0.81[EUR][1000 genomes]
rs12629713	0.82[EUR][1000 genomes]
rs12634255	0.82[EUR][1000 genomes]
rs12638158	0.82[EUR][1000 genomes]
rs12639363	0.82[EUR][1000 genomes]
rs13063075	0.85[EUR][1000 genomes]
rs13065800	0.85[EUR][1000 genomes]
rs13066441	0.90[EUR][1000 genomes]
rs13068397	0.82[EUR][1000 genomes]
rs13070239	0.82[EUR][1000 genomes]
rs13072346	0.82[EUR][1000 genomes]
rs13072355	0.82[EUR][1000 genomes]
rs13075259	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13085247	0.90[EUR][1000 genomes]
rs13085261	0.90[EUR][1000 genomes]
rs13089219	0.82[EUR][1000 genomes]
rs13092234	0.80[EUR][1000 genomes]
rs13092593	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13099184	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2227929	0.82[EUR][1000 genomes]
rs2227931	0.90[EUR][1000 genomes]
rs3923464	0.90[EUR][1000 genomes]
rs4256152	0.90[EUR][1000 genomes]
rs4558780	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4582075	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6440085	0.90[EUR][1000 genomes]
rs6776402	0.82[EUR][1000 genomes]
rs7630115	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7641914	0.80[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	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv523945	chr3:141933649-142219542	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
5	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv877561	chr3:142152925-142331360	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv528954	chr3:142164017-142219542	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142167400-142199400	Weak transcription	Colonic Mucosa	Colon
2	chr3:142167400-142199600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:142167400-142234600	Weak transcription	Psoas Muscle	Psoas
4	chr3:142167600-142199600	Weak transcription	Ovary	ovary
5	chr3:142167600-142200000	Weak transcription	HSMMtube	muscle
6	chr3:142167600-142203000	Weak transcription	Brain Angular Gyrus	brain
7	chr3:142167800-142199400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:142167800-142200000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr3:142167800-142200000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:142168000-142200000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr3:142168000-142200000	Weak transcription	Fetal Kidney	kidney
12	chr3:142170600-142199200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:142170600-142199600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:142170600-142203200	Weak transcription	Spleen	Spleen
15	chr3:142172800-142199200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:142175400-142199200	Weak transcription	Thymus	Thymus
17	chr3:142176200-142199200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:142177400-142199200	Weak transcription	Right Ventricle	heart
19	chr3:142177600-142200200	Weak transcription	Hela-S3	cervix
20	chr3:142177800-142199200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:142177800-142200000	Weak transcription	NH-A	brain
22	chr3:142178000-142199200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:142178000-142199600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:142178000-142200000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr3:142178200-142199200	Weak transcription	Placenta	Placenta
26	chr3:142178200-142199400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr3:142178200-142199600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr3:142178200-142200000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:142178400-142199600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:142178400-142200000	Weak transcription	HMEC	breast
31	chr3:142178400-142200200	Weak transcription	Fetal Heart	heart
32	chr3:142178600-142199200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr3:142178600-142199200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr3:142178600-142200200	Weak transcription	NHDF-Ad	bronchial
35	chr3:142178600-142200200	Weak transcription	NHEK	skin
36	chr3:142178800-142200000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:142178800-142200000	Weak transcription	K562	blood
38	chr3:142179400-142199400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:142182000-142199200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:142183200-142199600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:142183400-142199200	Weak transcription	Left Ventricle	heart
42	chr3:142183600-142200000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr3:142183800-142199000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr3:142185200-142200200	Weak transcription	Osteobl	bone
45	chr3:142185400-142199000	Weak transcription	Primary T cells from cord blood	blood
46	chr3:142185400-142199600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr3:142185800-142199200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:142186000-142200000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr3:142186200-142199600	Weak transcription	Liver	Liver
50	chr3:142186200-142200200	Weak transcription	HSMM	muscle

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