Variant report

Variant	rs8040136
Chromosome Location	chr15:50999698-50999699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50977630..50979240-chr15:50997253..51001551,4	MCF-7	breast:
2	chr15:50997913..51000096-chr15:51002715..51004859,2	MCF-7	breast:
3	chr15:50976385..50980404-chr15:50998232..51001152,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092439	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10467	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10519285	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1052457	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070790	0.83[GIH][hapmap]
rs11630124	1.00[EUR][1000 genomes]
rs11633905	0.89[EUR][1000 genomes]
rs11634859	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs11635800	1.00[EUR][1000 genomes]
rs11637164	1.00[EUR][1000 genomes]
rs11637308	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12324521	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16963774	0.83[GIH][hapmap]
rs17702595	1.00[EUR][1000 genomes]
rs28440118	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs28472713	0.94[EUR][1000 genomes]
rs3858903	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs61751063	1.00[EUR][1000 genomes]
rs62017255	1.00[EUR][1000 genomes]
rs62017256	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62017257	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62017259	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62018760	0.85[EUR][1000 genomes]
rs62018762	1.00[EUR][1000 genomes]
rs62018763	1.00[EUR][1000 genomes]
rs62018764	1.00[EUR][1000 genomes]
rs62018765	1.00[EUR][1000 genomes]
rs62018798	0.94[EUR][1000 genomes]
rs62018799	1.00[EUR][1000 genomes]
rs62018800	1.00[EUR][1000 genomes]
rs62018801	1.00[EUR][1000 genomes]
rs62018802	1.00[EUR][1000 genomes]
rs62018803	1.00[EUR][1000 genomes]
rs62018804	1.00[EUR][1000 genomes]
rs62018809	1.00[EUR][1000 genomes]
rs62018810	1.00[EUR][1000 genomes]
rs62018812	1.00[EUR][1000 genomes]
rs62018813	1.00[EUR][1000 genomes]
rs62018814	1.00[EUR][1000 genomes]
rs62018815	1.00[EUR][1000 genomes]
rs7164736	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs7167416	1.00[EUR][1000 genomes]
rs72740496	1.00[EUR][1000 genomes]
rs72742304	1.00[EUR][1000 genomes]
rs72742306	1.00[EUR][1000 genomes]
rs72742311	1.00[EUR][1000 genomes]
rs8031444	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs8037489	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8042462	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8043156	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs9806676	1.00[CHD][hapmap];0.83[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	65 gene(s)	inside rSNPs	diseases
4	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS 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	82 gene(s)	inside rSNPs	diseases
6	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS 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	82 gene(s)	inside rSNPs	diseases
7	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv1051990	chr15:50745814-51133186	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS 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	50 gene(s)	inside rSNPs	diseases
9	nsv1054970	chr15:50761410-51036625	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS 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	32 gene(s)	inside rSNPs	diseases
10	nsv457134	chr15:50770868-51184583	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv471242	chr15:50770868-51184583	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS 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	54 gene(s)	inside rSNPs	diseases
12	nsv569396	chr15:50770868-51184583	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
13	nsv457135	chr15:50770868-51189707	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv569397	chr15:50770868-51189707	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS 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
15	nsv1048621	chr15:50775451-51115535	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv1047039	chr15:50782070-51187804	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' 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
17	nsv542385	chr15:50782070-51187804	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
18	nsv457136	chr15:50789125-51294995	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
19	nsv569398	chr15:50789125-51294995	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
20	nsv1036081	chr15:50818569-51097229	Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats 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	45 gene(s)	inside rSNPs	diseases
21	nsv1055112	chr15:50822035-51133186	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	46 gene(s)	inside rSNPs	diseases
22	nsv1042372	chr15:50846461-51208891	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
23	nsv542386	chr15:50846461-51208891	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
24	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
25	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
26	nsv1051400	chr15:50890333-51046283	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
27	nsv904212	chr15:50979738-51132170	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50979800-51014000	Weak transcription	Right Ventricle	heart
2	chr15:50980200-51006600	Weak transcription	Fetal Stomach	stomach
3	chr15:50980400-51003800	Weak transcription	Fetal Intestine Small	intestine
4	chr15:50980400-51013600	Weak transcription	Fetal Lung	lung
5	chr15:50985000-50999800	Weak transcription	Primary B cells from cord blood	blood
6	chr15:50985000-51009000	Weak transcription	Primary T cells from cord blood	blood
7	chr15:50987200-50999800	Weak transcription	GM12878-XiMat	blood
8	chr15:50987400-50999800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:50988000-51056800	Weak transcription	Esophagus	oesophagus
10	chr15:50988200-51021600	Weak transcription	Pancreas	Pancrea
11	chr15:50988400-51010800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr15:50989800-51011000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:50990000-51008800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr15:50990000-51013600	Weak transcription	A549	lung
15	chr15:50990000-51015400	Weak transcription	NH-A	brain
16	chr15:50990000-51038800	Weak transcription	NHLF	lung
17	chr15:50990200-51021600	Weak transcription	Psoas Muscle	Psoas
18	chr15:50991200-51013200	Weak transcription	Lung	lung
19	chr15:50991400-51001600	Weak transcription	HSMM	muscle
20	chr15:50991600-51000000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr15:50991600-51033600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr15:50993200-51005000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr15:50994000-50999800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr15:50994000-51003600	Weak transcription	Fetal Intestine Large	intestine
25	chr15:50994600-51011600	Weak transcription	Fetal Brain Female	brain
26	chr15:50994800-51010400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr15:50994800-51010800	Weak transcription	NHDF-Ad	bronchial
28	chr15:50995000-51026400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr15:50995400-50999800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:50995400-51000200	Weak transcription	Left Ventricle	heart
31	chr15:50995400-51008800	Weak transcription	Osteobl	bone
32	chr15:50995400-51010800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:50995400-51011600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:50995400-51011800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr15:50995400-51011800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr15:50995400-51012200	Weak transcription	Colon Smooth Muscle	Colon
37	chr15:50995400-51017800	Weak transcription	HUVEC	blood vessel
38	chr15:50995600-51000000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr15:50995600-51000200	Weak transcription	Thymus	Thymus
40	chr15:50995600-51011600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr15:50995600-51012000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr15:50995600-51013200	Weak transcription	Aorta	Aorta
43	chr15:50995600-51046000	Weak transcription	Small Intestine	intestine
44	chr15:50995800-51000000	Weak transcription	HepG2	liver
45	chr15:50995800-51012000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:50995800-51013200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:50996000-51001800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:50996000-51012800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:50996200-51002000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr15:50996200-51011600	Weak transcription	Colonic Mucosa	Colon

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