Variant report

Variant	rs8032
Chromosome Location	chr15:77338784-77338785
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr15:77338613-77339201	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:77338226..77340379-chr15:77349615..77351544,2	K562	blood:
2	chr15:77332598..77335104-chr15:77338074..77339723,2	MCF-7	breast:
3	chr15:77337852..77340867-chr15:77357569..77361333,3	K562	blood:
4	chr15:77338266..77341370-chr15:77362139..77364149,3	K562	blood:
5	chr15:77336838..77340785-chr15:77352977..77355906,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260787	TF binding region
ENSG00000269951	Chromatin interaction
ENSG00000140391	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11072641	0.85[AMR][1000 genomes]
rs11630497	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11636613	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11636648	1.00[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11737	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12148761	0.96[CEU][hapmap]
rs12372961	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12438566	0.83[CHB][hapmap]
rs12901188	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12912792	0.81[ASN][1000 genomes]
rs16968665	0.91[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2404233	0.87[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs2404234	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34443712	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3935339	0.87[JPT][hapmap]
rs4078354	0.95[CEU][hapmap]
rs4886509	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4886847	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55645420	0.81[ASN][1000 genomes]
rs7166154	0.96[CEU][hapmap]
rs7169831	1.00[CEU][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes]
rs7177533	0.82[CHB][hapmap]
rs938501	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9806416	0.96[CEU][hapmap];0.82[CHB][hapmap]

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	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv2758388	chr15:77170550-77373448	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription 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	18 gene(s)	inside rSNPs	diseases
5	esv2760041	chr15:77170550-77373448	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv833058	chr15:77235895-77393640	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv517068	chr15:77254544-77381222	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1048833	chr15:77294593-77339260	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv904414	chr15:77304310-77400388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8032	RP11-797A18.4	cis	Muscle Skeletal	GTEx
rs8032	RP11-797A18.4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77318400-77350600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr15:77321200-77362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:77323400-77346000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:77326800-77349800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:77327400-77346000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:77327800-77346800	Strong transcription	Primary B cells from cord blood	blood
7	chr15:77328000-77344400	Weak transcription	Small Intestine	intestine
8	chr15:77329600-77339600	Strong transcription	Primary hematopoietic stem cells	blood
9	chr15:77330000-77338800	Weak transcription	Aorta	Aorta
10	chr15:77330000-77352000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr15:77330000-77352200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr15:77330200-77352400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr15:77330600-77350200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:77330800-77339400	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:77331200-77345600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:77331600-77339600	Strong transcription	Fetal Intestine Small	intestine
17	chr15:77332400-77340000	Strong transcription	Fetal Intestine Large	intestine
18	chr15:77332400-77340000	Strong transcription	Fetal Muscle Trunk	muscle
19	chr15:77332800-77339800	Strong transcription	Fetal Stomach	stomach
20	chr15:77332800-77344400	Weak transcription	K562	blood
21	chr15:77333000-77339600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:77333000-77342800	Strong transcription	A549	lung
23	chr15:77333200-77339800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr15:77333200-77351200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:77333800-77344400	Weak transcription	HMEC	breast
26	chr15:77333800-77349600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr15:77333800-77351000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:77334000-77340000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:77334000-77340200	Strong transcription	HSMM	muscle
30	chr15:77334000-77348600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:77334200-77338800	Strong transcription	Thymus	Thymus
32	chr15:77334200-77339400	Strong transcription	Fetal Lung	lung
33	chr15:77334200-77339600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:77334200-77339600	Strong transcription	Brain Germinal Matrix	brain
35	chr15:77334200-77339600	Strong transcription	Fetal Brain Female	brain
36	chr15:77334200-77340400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr15:77334200-77341000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr15:77334200-77346000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr15:77334200-77349600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:77334400-77339600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:77334400-77339600	Strong transcription	Fetal Kidney	kidney
42	chr15:77334800-77339400	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr15:77334800-77339600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:77334800-77339600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:77334800-77340600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr15:77334800-77345400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr15:77334800-77346600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:77335000-77339600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:77335200-77339000	Strong transcription	HSMMtube	muscle
50	chr15:77335200-77339200	Strong transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links