Variant report

Variant	rs17038852
Chromosome Location	chr2:36887635-36887636
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	RUNX3	chr2:36887057-36888025	GM12878	blood:	n/a	n/a
2	FOXA1	chr2:36886937-36887790	HepG2	liver:	n/a	n/a
3	MYBL2	chr2:36886865-36887659	HepG2	liver:	n/a	n/a
4	FOXA1	chr2:36886936-36887785	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:36886856-36887693	HepG2	liver:	n/a	n/a
6	NFIC	chr2:36887052-36887651	GM12878	blood:	n/a	n/a
7	TCF12	chr2:36887005-36887661	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000270677	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10174403	1.00[CEU][hapmap]
rs11124546	1.00[CEU][hapmap]
rs11901202	1.00[CEU][hapmap]
rs11902881	1.00[CEU][hapmap]
rs12616788	1.00[CEU][hapmap]
rs13418106	1.00[CEU][hapmap]
rs13418202	1.00[CEU][hapmap]
rs17018960	1.00[CEU][hapmap]
rs17019010	1.00[CEU][hapmap]
rs17019388	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019813	1.00[CEU][hapmap]
rs17019851	1.00[CEU][hapmap]
rs17019854	1.00[CEU][hapmap]
rs1861390	1.00[CEU][hapmap]
rs2072526	1.00[CEU][hapmap]
rs2276670	1.00[CEU][hapmap]
rs2372701	1.00[EUR][1000 genomes]
rs2372702	1.00[EUR][1000 genomes]
rs2372703	1.00[EUR][1000 genomes]
rs2372705	1.00[EUR][1000 genomes]
rs2888391	1.00[EUR][1000 genomes]
rs2888392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2888393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72870385	0.81[AFR][1000 genomes]
rs929640	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1007757	chr2:36838387-37011384	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv535643	chr2:36838387-37011384	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv523146	chr2:36849220-36897909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36880000-36895000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:36884000-36890400	Weak transcription	NHLF	lung
3	chr2:36884600-36889000	Enhancers	HepG2	liver
4	chr2:36885000-36887800	Enhancers	Hela-S3	cervix
5	chr2:36885600-36888800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:36885600-36890800	Weak transcription	Psoas Muscle	Psoas
7	chr2:36886400-36891000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:36886800-36887800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:36886800-36888000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:36887000-36887800	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr2:36887000-36888000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:36887000-36888000	Enhancers	Osteobl	bone
13	chr2:36887200-36890000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:36887200-36890200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:36887400-36890200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:36887400-36890800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:36887400-36890800	Weak transcription	A549	lung
18	chr2:36887400-36894800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:36887600-36890400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:36887600-36890400	Weak transcription	HUVEC	blood vessel
21	chr2:36887600-36890600	Weak transcription	HSMM	muscle
22	chr2:36887600-36890600	Weak transcription	NHDF-Ad	bronchial

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