Variant report

Variant	rs509083
Chromosome Location	chr15:33175821-33175822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11072039	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12050712	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12050715	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2339162	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3110560	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs347932	0.82[EUR][1000 genomes]
rs347933	0.82[EUR][1000 genomes]
rs347936	0.88[EUR][1000 genomes]
rs347937	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs347940	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs347941	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs347942	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs347943	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs347946	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs477827	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4779595	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4779596	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4780057	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs481087	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs481430	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs494584	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs512644	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs512752	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs536558	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs536612	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs538535	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs567682	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs579064	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs580115	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62001320	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62001355	0.88[EUR][1000 genomes]
rs62001356	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs692950	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7162186	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7165928	0.89[EUR][1000 genomes]
rs7170830	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8030196	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8030367	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8030557	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8031188	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422296	chr15:32798938-33221215	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv456785	chr15:32926076-33352989	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv568913	chr15:32926076-33352989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv832962	chr15:33111517-33239736	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv903978	chr15:33144202-33308641	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1041609	chr15:33148035-33355999	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv542339	chr15:33148035-33355999	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv903980	chr15:33149087-33264201	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv568917	chr15:33167171-33304172	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33138800-33190600	Weak transcription	Thymus	Thymus
2	chr15:33139600-33190600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr15:33147000-33191400	Weak transcription	Lung	lung
4	chr15:33149000-33202000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr15:33154400-33192800	Weak transcription	Colonic Mucosa	Colon
6	chr15:33154400-33216800	Weak transcription	Fetal Thymus	thymus
7	chr15:33155000-33208200	Weak transcription	Fetal Kidney	kidney
8	chr15:33160000-33201800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:33162000-33178400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:33162200-33176400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr15:33162200-33202400	Weak transcription	Gastric	stomach
12	chr15:33165600-33178600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:33166000-33202400	Weak transcription	Pancreas	Pancrea
14	chr15:33166200-33211800	Weak transcription	HSMMtube	muscle
15	chr15:33167400-33176400	Weak transcription	Fetal Stomach	stomach
16	chr15:33168000-33178400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:33170000-33176400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:33170600-33186800	Weak transcription	Spleen	Spleen
19	chr15:33170800-33177200	Weak transcription	Osteobl	bone
20	chr15:33170800-33196200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:33170800-33200400	Weak transcription	NH-A	brain
22	chr15:33171000-33176800	Weak transcription	Stomach Mucosa	stomach
23	chr15:33171800-33180200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:33171800-33180600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr15:33172000-33176200	Weak transcription	NHDF-Ad	bronchial
26	chr15:33172000-33176600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr15:33172000-33181600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr15:33172400-33179000	Weak transcription	Aorta	Aorta
29	chr15:33173800-33176600	Strong transcription	NHLF	lung
30	chr15:33173800-33177000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr15:33173800-33178400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr15:33174000-33182000	Enhancers	Colon Smooth Muscle	Colon
33	chr15:33174000-33182000	Enhancers	Rectal Smooth Muscle	rectum
34	chr15:33174400-33176600	Weak transcription	HSMM	muscle
35	chr15:33174400-33178200	Weak transcription	Placenta	Placenta
36	chr15:33174800-33176600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:33174800-33178200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr15:33175400-33176400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:33175400-33178600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr15:33175600-33185000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr15:33175800-33176200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:33175800-33178400	Enhancers	Stomach Smooth Muscle	stomach

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