Variant report

Variant	rs73391299
Chromosome Location	chr15:39915523-39915524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:39911219..39913428-chr15:39914753..39916393,2	MCF-7	breast:
2	chr15:39889048..39893948-chr15:39913567..39917542,6	MCF-7	breast:
3	chr15:39872530..39878181-chr15:39914348..39917855,8	MCF-7	breast:
4	chr15:39887137..39895767-chr15:39912868..39924962,20	MCF-7	breast:
5	chr15:39913257..39915951-chr15:39916082..39918090,3	K562	blood:
6	chr15:39913171..39923947-chr15:39954798..39966806,32	MCF-7	breast:
7	chr15:39872636..39875230-chr15:39915122..39916947,2	MCF-7	breast:
8	chr15:39913193..39915951-chr15:39916034..39918090,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137801	Chromatin interaction
ENSG00000150667	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11636194	1.00[AMR][1000 genomes]
rs16952166	1.00[AMR][1000 genomes]
rs16969215	1.00[AMR][1000 genomes]
rs16969225	1.00[AMR][1000 genomes]
rs16969244	1.00[AMR][1000 genomes]
rs16969310	1.00[AMR][1000 genomes]
rs16969385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969567	1.00[AMR][1000 genomes]
rs16969594	1.00[AMR][1000 genomes]
rs16969623	1.00[AMR][1000 genomes]
rs16969673	1.00[AMR][1000 genomes]
rs16969697	1.00[AMR][1000 genomes]
rs16969698	1.00[AMR][1000 genomes]
rs16969766	1.00[AMR][1000 genomes]
rs16969787	1.00[AMR][1000 genomes]
rs16969794	1.00[AMR][1000 genomes]
rs16969798	1.00[AMR][1000 genomes]
rs16969817	1.00[AMR][1000 genomes]
rs275740	1.00[AMR][1000 genomes]
rs56932964	1.00[AMR][1000 genomes]
rs58338921	1.00[AMR][1000 genomes]
rs58368477	1.00[AMR][1000 genomes]
rs584244	1.00[AMR][1000 genomes]
rs60403575	1.00[AMR][1000 genomes]
rs60701446	1.00[AMR][1000 genomes]
rs61461459	1.00[AMR][1000 genomes]
rs649015	1.00[AMR][1000 genomes]
rs650424	1.00[AMR][1000 genomes]
rs684438	1.00[AMR][1000 genomes]
rs73391276	1.00[AMR][1000 genomes]
rs73391292	1.00[AMR][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	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv832977	chr15:39817512-39981520	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1048628	chr15:39877498-39940104	Enhancers Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1502	chr15:39884314-39928968	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39906600-39916000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:39910800-39916200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:39910800-39917400	Weak transcription	Small Intestine	intestine
4	chr15:39911000-39916000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:39911000-39916200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:39911000-39916200	Weak transcription	Left Ventricle	heart
7	chr15:39911000-39916400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:39911400-39916600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:39912000-39916000	Weak transcription	HMEC	breast
10	chr15:39912800-39916000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr15:39913200-39924000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr15:39913400-39918200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:39913400-39921000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:39913400-39922400	Enhancers	Fetal Intestine Large	intestine
15	chr15:39913400-39923800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:39913600-39916000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:39913800-39915800	Weak transcription	HUVEC	blood vessel
18	chr15:39913800-39916400	Weak transcription	NHEK	skin
19	chr15:39913800-39916600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:39913800-39917200	Weak transcription	Fetal Muscle Leg	muscle
21	chr15:39914000-39922800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:39914200-39916000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr15:39914200-39916600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:39914200-39922600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr15:39914600-39922800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr15:39914600-39923600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr15:39914600-39923600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr15:39914600-39923800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr15:39914800-39916200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr15:39914800-39916600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:39914800-39923800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr15:39915000-39916000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr15:39915200-39915600	Enhancers	Duodenum Mucosa	Duodenum
34	chr15:39915200-39916400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:39915200-39918400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:39915400-39916200	Weak transcription	Colon Smooth Muscle	Colon
37	chr15:39915400-39916400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:39915400-39917400	Flanking Active TSS	GM12878-XiMat	blood
39	chr15:39915400-39918200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr15:39915400-39918800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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