Variant report

Variant	rs4334271
Chromosome Location	chr15:40636457-40636458
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:40636420-40636570	Hela-S3	cervix:	n/a	n/a
2	MAZ	chr15:40635062-40637277	IMR90	lung:	n/a	n/a
3	MAFK	chr15:40636311-40636841	IMR90	lung:	n/a	n/a
4	CTCF	chr15:40635143-40637481	SK-N-SH	brain:	n/a	chr15:40636926-40636947 chr15:40636924-40636942 chr15:40637299-40637312 chr15:40637257-40637266
5	POLR2A	chr15:40635262-40636876	HUVEC	blood vessel:	n/a	n/a
6	RFX5	chr15:40635302-40637369	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr15:40635443-40637198	U87	brain:	n/a	n/a
8	CTCF	chr15:40636440-40636590	GM12866	blood:	n/a	n/a
9	POLR2A	chr15:40635417-40636612	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr15:40636320-40636470	HFF-Myc	foreskin:	n/a	n/a
11	RAD21	chr15:40636389-40637323	SK-N-SH	brain:	n/a	chr15:40636925-40636944
12	CTCF	chr15:40636400-40636550	NHDF-neo	bronchial:	n/a	n/a
13	POLR2A	chr15:40635067-40637109	IMR90	lung:	n/a	n/a
14	CTCF	chr15:40636420-40636570	GM06990	blood:	n/a	n/a
15	RFX5	chr15:40635710-40636481	HepG2	liver:	n/a	n/a
16	RCOR1	chr15:40634368-40637165	IMR90	lung:	n/a	n/a
17	POLR2A	chr15:40635061-40637089	U87	brain:	n/a	n/a
18	JUND	chr15:40636335-40636660	HepG2	liver:	n/a	chr15:40636501-40636510
19	POLR2A	chr15:40635649-40636841	U87	brain:	n/a	n/a
20	RFX5	chr15:40634386-40637249	IMR90	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:40635356..40637920-chr15:40639112..40641460,3	K562	blood:
2	chr15:40636454..40637675-chr15:40713711..40714788,5	K562	blood:
3	chr15:40635911..40638276-chr15:40731677..40734412,2	K562	blood:
4	chr15:40630714..40634859-chr15:40635912..40637951,3	MCF-7	breast:
5	chr15:40636033..40638861-chr15:40659207..40662844,4	K562	blood:
6	chr15:40631655..40634188-chr15:40635440..40637021,2	K562	blood:
7	chr15:40636446..40637771-chr15:40659706..40660699,14	MCF-7	breast:
8	chr15:40631754..40634753-chr15:40635668..40637955,3	MCF-7	breast:

No data

Variant related genes	Relation type
C15orf52	TF binding region
ENSG00000140323	Chromatin interaction
ENSG00000188549	Chromatin interaction
ENSG00000259368	Chromatin interaction
ENSG00000140320	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1077476	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs11070264	0.86[JPT][hapmap]
rs12081	0.95[JPT][hapmap]
rs2118961	0.86[JPT][hapmap]
rs2289333	0.95[JPT][hapmap]
rs4923864	0.82[ASN][1000 genomes]
rs4924455	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7173747	0.95[JPT][hapmap]
rs748245	0.85[JPT][hapmap]
rs882829	0.86[JPT][hapmap]
rs934937	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4334271	KNSTRN	cis	Artery Aorta	GTEx
rs4334271	C15orf23	cis	cerebellum	SCAN
rs4334271	C15orf23	cis	parietal	SCAN
rs4334271	RPAP1	cis	parietal	SCAN
rs4334271	IVD	cis	cerebellum	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40621000-40637600	Enhancers	Fetal Heart	heart
2	chr15:40625800-40642800	Enhancers	Fetal Intestine Large	intestine
3	chr15:40629400-40637200	Enhancers	Fetal Lung	lung
4	chr15:40630600-40636600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:40632800-40637000	Weak transcription	Fetal Thymus	thymus
6	chr15:40633000-40637200	Enhancers	Fetal Muscle Leg	muscle
7	chr15:40633000-40637400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:40633000-40637400	Enhancers	NHDF-Ad	bronchial
9	chr15:40633000-40638800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:40633000-40640600	Enhancers	Fetal Intestine Small	intestine
11	chr15:40633200-40637400	Enhancers	Right Ventricle	heart
12	chr15:40633200-40637400	Enhancers	HMEC	breast
13	chr15:40633200-40637400	Enhancers	NHEK	skin
14	chr15:40633200-40637400	Enhancers	NHLF	lung
15	chr15:40633200-40637600	Enhancers	HUVEC	blood vessel
16	chr15:40633200-40639400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:40633200-40641600	Enhancers	Esophagus	oesophagus
18	chr15:40633400-40636600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:40633400-40636600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:40633400-40637000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr15:40633400-40637000	Weak transcription	Small Intestine	intestine
22	chr15:40633400-40637200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:40633400-40637800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:40633600-40636600	Weak transcription	Ovary	ovary
25	chr15:40633600-40636600	Weak transcription	Pancreas	Pancrea
26	chr15:40633600-40637200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr15:40633600-40637200	Enhancers	Osteobl	bone
28	chr15:40633600-40642800	Enhancers	Stomach Mucosa	stomach
29	chr15:40633600-40644800	Weak transcription	Brain Germinal Matrix	brain
30	chr15:40633600-40645600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:40633800-40636600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr15:40633800-40636800	Weak transcription	Brain Anterior Caudate	brain
33	chr15:40633800-40637400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr15:40633800-40638200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr15:40633800-40638600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr15:40633800-40638600	Weak transcription	Hela-S3	cervix
37	chr15:40634000-40638600	Weak transcription	HSMM	muscle
38	chr15:40634200-40637000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr15:40634200-40637600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:40634400-40636800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr15:40634400-40637200	Enhancers	NH-A	brain
42	chr15:40634600-40637200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:40634800-40636800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:40634800-40636800	Enhancers	Colon Smooth Muscle	Colon
45	chr15:40634800-40637200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:40634800-40637400	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr15:40634800-40641000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr15:40635000-40636600	Enhancers	Lung	lung
49	chr15:40635000-40636800	Enhancers	Adipose Nuclei	Adipose
50	chr15:40635000-40637200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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