Variant report

Variant	rs7165244
Chromosome Location	chr15:40079742-40079743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr15:40079610-40080194	HepG2	liver:	n/a	n/a
2	JUND	chr15:40079628-40079945	HepG2	liver:	n/a	n/a
3	JUN	chr15:40079613-40079909	HepG2	liver:	n/a	n/a
4	POLR2A	chr15:40079669-40080059	U87	brain:	n/a	n/a
5	TEAD4	chr15:40079636-40079884	HepG2	liver:	n/a	n/a
6	ARID3A	chr15:40079631-40079973	HepG2	liver:	n/a	n/a
7	JUND	chr15:40079618-40079986	HepG2	liver:	n/a	n/a
8	FOXA1	chr15:40079713-40080154	T-47D	breast:	n/a	n/a
9	FOXA2	chr15:40079635-40080062	HepG2	liver:	n/a	n/a
10	TEAD4	chr15:40079488-40080100	HepG2	liver:	n/a	n/a
11	FOSL2	chr15:40079568-40080041	HepG2	liver:	n/a	n/a
12	FOXA2	chr15:40079413-40080485	HepG2	liver:	n/a	n/a
13	JUND	chr15:40079650-40079972	H1-hESC	embryonic stem cell:	n/a	n/a
14	FOXA1	chr15:40079606-40080095	HepG2	liver:	n/a	n/a
15	POLR2A	chr15:40079655-40081334	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr15:40079542-40080826	K562	blood:	n/a	n/a
17	FOXA1	chr15:40079655-40080205	HepG2	liver:	n/a	n/a
18	GABPA	chr15:40079738-40080017	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr15:40078461-40079761	SK-N-SH	brain:	n/a	chr15:40078868-40078887 chr15:40078870-40078877
20	FOSL2	chr15:40079658-40080055	HepG2	liver:	n/a	n/a
21	FOXA1	chr15:40079645-40080109	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40078363..40080929-chr15:40268662..40270401,2	MCF-7	breast:
2	chr15:40076890..40079993-chr15:40222713..40226528,3	K562	blood:
3	chr15:40074604..40078535-chr15:40078976..40081815,4	K562	blood:
4	chr15:39873007..39875919-chr15:40078387..40080697,2	MCF-7	breast:
5	chr15:40074241..40077863-chr15:40078792..40081577,3	K562	blood:
6	chr15:40078993..40080916-chr15:40082332..40084803,2	K562	blood:
7	chr15:40078779..40080616-chr15:40094906..40097630,2	MCF-7	breast:
8	chr15:40077135..40079271-chr15:40079393..40081898,2	MCF-7	breast:
9	chr15:40051644..40053868-chr15:40078451..40080226,2	MCF-7	breast:
10	chr15:40079175..40081149-chr15:40487705..40489916,2	K562	blood:
11	chr15:40079616..40081118-chr15:40086313..40088294,2	MCF-7	breast:
12	chr15:40079722..40082305-chr15:40603620..40606001,2	K562	blood:

No data

Variant related genes	Relation type
FSIP1	TF binding region
ENSG00000259198	Chromatin interaction
ENSG00000261136	Chromatin interaction
ENSG00000128829	Chromatin interaction
ENSG00000150667	Chromatin interaction
ENSG00000137801	Chromatin interaction
ENSG00000244705	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1027232	0.91[EUR][1000 genomes]
rs1166718	0.81[ASN][1000 genomes]
rs1166721	1.00[CEU][hapmap]
rs1166722	0.83[ASN][1000 genomes]
rs1166723	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs12324408	1.00[CEU][hapmap]
rs12591862	1.00[CEU][hapmap]
rs12594027	0.92[AFR][1000 genomes]
rs12594113	0.92[AFR][1000 genomes]
rs12595664	1.00[CEU][hapmap]
rs1602543	1.00[CEU][hapmap]
rs1688087	0.82[ASN][1000 genomes]
rs1906162	1.00[CEU][hapmap]
rs1906165	1.00[CEU][hapmap]
rs2576929	0.83[ASN][1000 genomes]
rs2576932	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2576933	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2631714	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs2638009	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs34943556	0.90[ASN][1000 genomes]
rs4924389	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs4924391	0.82[ASN][1000 genomes]
rs58312028	0.91[EUR][1000 genomes]
rs592172	0.86[ASN][1000 genomes]
rs594863	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs606927	0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs620407	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6492915	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs6492919	0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs66490630	0.82[AFR][1000 genomes]
rs66496275	0.90[ASN][1000 genomes]
rs670748	0.81[ASN][1000 genomes]
rs7179417	0.81[JPT][hapmap]
rs73397128	0.94[AFR][1000 genomes]
rs73397133	0.92[EUR][1000 genomes]
rs8033957	1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40075800-40080600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:40076000-40080600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:40076000-40081000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:40076000-40103200	Weak transcription	Right Atrium	heart
5	chr15:40076200-40079800	Weak transcription	Pancreas	Pancrea
6	chr15:40076200-40080000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr15:40076200-40080800	Weak transcription	Primary B cells from cord blood	blood
8	chr15:40076200-40081400	Weak transcription	Fetal Kidney	kidney
9	chr15:40076400-40080600	Weak transcription	Thymus	Thymus
10	chr15:40076600-40079800	Weak transcription	Fetal Thymus	thymus
11	chr15:40076600-40080000	Enhancers	HMEC	breast
12	chr15:40076600-40080200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:40076600-40080600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:40076600-40080600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr15:40076600-40081600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:40076600-40082000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:40076600-40082400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:40076600-40082600	Weak transcription	Primary T cells from cord blood	blood
19	chr15:40076600-40084200	Weak transcription	Adipose Nuclei	Adipose
20	chr15:40076600-40086200	Weak transcription	Fetal Muscle Leg	muscle
21	chr15:40076600-40090200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:40076600-40092600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:40076800-40082200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr15:40076800-40082400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:40077200-40079800	Weak transcription	HSMMtube	muscle
26	chr15:40077200-40081200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr15:40077200-40082600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:40077200-40082600	Enhancers	NHLF	lung
29	chr15:40077200-40092600	Weak transcription	NHEK	skin
30	chr15:40077200-40093200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:40077400-40082600	Enhancers	Osteobl	bone
32	chr15:40077600-40079800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr15:40077600-40082400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr15:40077600-40094600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:40077800-40080000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr15:40077800-40081200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:40077800-40082600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr15:40078000-40080600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:40078000-40082000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr15:40078200-40081200	Enhancers	HSMM	muscle
41	chr15:40078200-40081400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr15:40078200-40082400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr15:40078600-40079800	Enhancers	HepG2	liver
44	chr15:40078600-40080200	Weak transcription	Dnd41	blood
45	chr15:40078600-40081200	Enhancers	GM12878-XiMat	blood
46	chr15:40078600-40081600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:40078600-40082400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:40078600-40082400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:40078800-40079800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:40078800-40079800	Weak transcription	HUVEC	blood vessel

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