Variant report

Variant	rs11634604
Chromosome Location	chr15:59666120-59666121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:59663366-59667532	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr15:59664440-59666132	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59518511..59521491-chr15:59664302..59666468,2	MCF-7	breast:
2	chr15:59665232..59666166-chr5:36875918..36876809,2	Hela-S3	cervix:

Variant related genes	Relation type
MYO1E	TF binding region
ENSG00000157483	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10851653	0.88[ASN][1000 genomes]
rs11071432	0.88[ASN][1000 genomes]
rs11071433	0.88[ASN][1000 genomes]
rs11631146	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11631451	0.85[ASN][1000 genomes]
rs11632346	0.83[ASN][1000 genomes]
rs11635849	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11639217	0.85[ASN][1000 genomes]
rs11854356	0.82[ASN][1000 genomes]
rs11855765	0.86[ASN][1000 genomes]
rs12050546	0.86[ASN][1000 genomes]
rs12441388	0.86[ASN][1000 genomes]
rs12442217	0.81[ASN][1000 genomes]
rs12899138	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs16941369	0.84[ASN][1000 genomes]
rs17302351	0.83[ASN][1000 genomes]
rs4774327	0.86[ASN][1000 genomes]
rs4775158	0.88[ASN][1000 genomes]
rs62012550	0.94[ASN][1000 genomes]
rs6494101	0.84[ASN][1000 genomes]
rs6494102	0.84[ASN][1000 genomes]
rs6494105	0.88[ASN][1000 genomes]
rs66595425	0.81[ASN][1000 genomes]
rs7173362	0.88[ASN][1000 genomes]
rs7178041	0.88[ASN][1000 genomes]
rs8031423	0.85[ASN][1000 genomes]
rs965929	0.81[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	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv934082	chr15:59608605-59733211	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv457175	chr15:59609753-59681214	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv569603	chr15:59609753-59681214	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv471246	chr15:59610743-59681214	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv904274	chr15:59623576-59689378	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription 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	26 gene(s)	inside rSNPs	diseases
7	nsv904275	chr15:59648633-59726610	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
8	nsv904276	chr15:59648633-59743010	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59662600-59666200	Active TSS	Colonic Mucosa	Colon
2	chr15:59662600-59666600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr15:59662600-59667600	Active TSS	GM12878-XiMat	blood
4	chr15:59662800-59666200	Active TSS	Fetal Intestine Small	intestine
5	chr15:59663000-59666200	Active TSS	Duodenum Mucosa	Duodenum
6	chr15:59663600-59666200	Active TSS	Pancreas	Pancrea
7	chr15:59663600-59666200	Active TSS	Hela-S3	cervix
8	chr15:59663800-59666400	Active TSS	A549	lung
9	chr15:59664000-59666200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr15:59664000-59666200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:59664000-59666200	Active TSS	Stomach Smooth Muscle	stomach
12	chr15:59665400-59666800	Weak transcription	Stomach Mucosa	stomach
13	chr15:59665400-59667000	Enhancers	Small Intestine	intestine
14	chr15:59665400-59667400	Weak transcription	Gastric	stomach
15	chr15:59665600-59666200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:59665600-59666400	Weak transcription	Fetal Heart	heart
17	chr15:59665600-59666400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr15:59665800-59666200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:59665800-59666200	Enhancers	Fetal Muscle Leg	muscle
20	chr15:59665800-59666200	Enhancers	NHEK	skin
21	chr15:59665800-59666400	Enhancers	HUVEC	blood vessel
22	chr15:59665800-59668800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr15:59665800-59674000	Weak transcription	Fetal Kidney	kidney
24	chr15:59665800-59675800	Weak transcription	Brain Hippocampus Middle	brain
25	chr15:59665800-59678400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr15:59665800-59680200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr15:59665800-59691800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:59666000-59666200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:59666000-59666200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr15:59666000-59666200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:59666000-59666200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:59666000-59666200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:59666000-59666200	Flanking Active TSS	Fetal Intestine Large	intestine
34	chr15:59666000-59666200	Enhancers	Fetal Stomach	stomach
35	chr15:59666000-59666200	Enhancers	Ovary	ovary
36	chr15:59666000-59666200	Enhancers	Psoas Muscle	Psoas
37	chr15:59666000-59666400	Flanking Active TSS	Liver	Liver
38	chr15:59666000-59666600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr15:59666000-59667000	Weak transcription	Aorta	Aorta
40	chr15:59666000-59667000	Enhancers	HepG2	liver
41	chr15:59666000-59667400	Enhancers	Primary B cells from cord blood	blood
42	chr15:59666000-59672600	Weak transcription	Placenta	Placenta
43	chr15:59666000-59674400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:59666000-59674800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr15:59666000-59676400	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:59666000-59677000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr15:59666000-59678400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:59666000-59678400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr15:59666000-59678800	Weak transcription	Fetal Lung	lung
50	chr15:59666000-59680800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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