Variant report

Variant	rs5030786
Chromosome Location	chr15:40985054-40985055
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40983418..40985214-chr15:40986954..40989432,2	K562	blood:
2	chr15:40982126..40985382-chr15:40985435..40988081,4	MCF-7	breast:
3	chr15:40984748..40990654-chr15:41044779..41050104,8	K562	blood:
4	chr15:40984748..40987218-chr15:41046649..41049070,3	K562	blood:

Variant related genes	Relation type
ENSG00000051180	Chromatin interaction
ENSG00000137824	Chromatin interaction
ENSG00000245849	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10518696	0.82[EUR][1000 genomes]
rs16970854	0.82[EUR][1000 genomes]
rs1801320	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2304579	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4144242	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs45455000	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45503494	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45504895	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs45507396	0.98[EUR][1000 genomes]
rs45559631	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45579836	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45585734	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs57140606	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57736474	0.81[EUR][1000 genomes]
rs57936990	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58458955	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59654927	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60408076	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61381741	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73396510	0.81[EUR][1000 genomes]
rs73396515	0.81[EUR][1000 genomes]
rs8034726	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv904099	chr15:40949526-41041875	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv529030	chr15:40956471-41012695	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv904100	chr15:40959624-40994706	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40913800-40986000	Weak transcription	A549	lung
2	chr15:40971200-40985800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr15:40971600-40985600	Weak transcription	Dnd41	blood
4	chr15:40971600-40985800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr15:40971800-40985800	Weak transcription	Brain Angular Gyrus	brain
6	chr15:40973200-40985600	Weak transcription	Primary B cells from cord blood	blood
7	chr15:40973400-40985800	Weak transcription	GM12878-XiMat	blood
8	chr15:40977000-40985800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr15:40977200-40985800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:40977400-40985800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:40977400-40986200	Weak transcription	Esophagus	oesophagus
12	chr15:40978000-40985800	Weak transcription	Gastric	stomach
13	chr15:40978000-40986000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:40978200-40985800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:40978200-40986000	Weak transcription	HSMMtube	muscle
16	chr15:40978600-40986000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:40978600-40986000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:40979000-40986000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:40979400-40986000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr15:40979400-40986000	Weak transcription	HUVEC	blood vessel
21	chr15:40979600-40986000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:40979800-40985800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:40979800-40986000	Weak transcription	Left Ventricle	heart
24	chr15:40980400-40985600	Weak transcription	Pancreas	Pancrea
25	chr15:40980400-40985800	Weak transcription	Fetal Brain Male	brain
26	chr15:40980400-40986000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr15:40980800-40986000	Weak transcription	NHLF	lung
28	chr15:40981000-40986000	Weak transcription	NHDF-Ad	bronchial
29	chr15:40981200-40986000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr15:40981200-40986200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr15:40981400-40986200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:40981400-40986200	Weak transcription	Psoas Muscle	Psoas
33	chr15:40981600-40985800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr15:40981600-40986000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:40981800-40985800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr15:40981800-40985800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:40982000-40985800	Weak transcription	NHEK	skin
38	chr15:40982000-40986000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:40982000-40986200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:40982400-40986000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr15:40982400-40986000	Weak transcription	Brain Germinal Matrix	brain
42	chr15:40982400-40986000	Weak transcription	Hela-S3	cervix
43	chr15:40982400-40986200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr15:40982400-40986200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr15:40982600-40985800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:40982600-40985800	Weak transcription	Brain Substantia Nigra	brain
47	chr15:40982600-40986200	Weak transcription	Aorta	Aorta
48	chr15:40982600-40986200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr15:40982800-40985800	Strong transcription	Fetal Stomach	stomach
50	chr15:40982800-40986000	Weak transcription	Fetal Kidney	kidney

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