Variant report

Variant	rs12592641
Chromosome Location	chr15:41156884-41156885
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41154663..41156946-chr15:41157971..41160797,2	K562	blood:
2	chr15:41156188..41160579-chr15:41164081..41167959,6	K562	blood:
3	chr15:41135972..41139917-chr15:41154366..41159199,4	K562	blood:
4	chr15:41151657..41153980-chr15:41156143..41158450,2	K562	blood:
5	chr15:41149915..41158340-chr15:41160487..41168241,17	MCF-7	breast:
6	chr15:41148610..41153040-chr15:41153153..41159814,9	MCF-7	breast:
7	chr15:41149030..41159900-chr15:41180834..41187281,18	MCF-7	breast:
8	chr15:41156581..41159555-chr15:41176856..41179338,2	MCF-7	breast:
9	chr15:41152386..41154542-chr15:41154856..41158278,3	MCF-7	breast:
10	chr15:41156188..41158577-chr15:41164975..41167959,2	K562	blood:
11	chr15:41148133..41159834-chr15:41169228..41175193,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166145	Chromatin interaction
ENSG00000261183	Chromatin interaction
ENSG00000264256	Chromatin interaction
ENSG00000104140	Chromatin interaction
ENSG00000104142	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2307098	0.84[ASN][1000 genomes]
rs28406798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28588469	0.84[AFR][1000 genomes]
rs28668180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3803351	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59161858	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60868733	0.86[ASN][1000 genomes]
rs8024138	0.83[ASN][1000 genomes]
rs8025582	0.86[ASN][1000 genomes]
rs8030057	0.86[ASN][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	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
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv569228	chr15:41106485-41194151	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41137400-41165800	Weak transcription	Right Atrium	heart
2	chr15:41149600-41158000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr15:41149800-41158200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:41150000-41158200	Weak transcription	HMEC	breast
5	chr15:41150000-41165600	Weak transcription	Spleen	Spleen
6	chr15:41150600-41158200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:41151600-41158400	Weak transcription	Fetal Thymus	thymus
8	chr15:41151600-41165400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:41152000-41158000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:41152000-41163800	Weak transcription	Gastric	stomach
11	chr15:41153600-41159200	Enhancers	Stomach Mucosa	stomach
12	chr15:41154000-41162400	Weak transcription	GM12878-XiMat	blood
13	chr15:41154600-41158000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:41154600-41158000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:41154600-41158400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:41155000-41157000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr15:41155200-41157200	Enhancers	Duodenum Mucosa	Duodenum
18	chr15:41155200-41157600	Enhancers	Esophagus	oesophagus
19	chr15:41155800-41159000	Enhancers	Pancreas	Pancrea
20	chr15:41156000-41157000	Enhancers	A549	lung
21	chr15:41156000-41159000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:41156200-41164000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr15:41156400-41158200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:41156600-41158200	Enhancers	Hela-S3	cervix
25	chr15:41156600-41163600	Weak transcription	Fetal Intestine Small	intestine
26	chr15:41156800-41157200	Bivalent Enhancer	HepG2	liver
27	chr15:41156800-41158200	Weak transcription	Colonic Mucosa	Colon
28	chr15:41156800-41158200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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