Variant report

Variant	rs7615762
Chromosome Location	chr3:42542558-42542559
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	ZNF143	chr3:42542460-42542769	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr3:42542472-42542806	H1-hESC	embryonic stem cell:	n/a	n/a
3	EGR1	chr3:42542422-42542837	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr3:42542545-42544245	H1-hESC	embryonic stem cell:	n/a	chr3:42543175-42543189 chr3:42544122-42544131 chr3:42543460-42543471 chr3:42543617-42543626
5	MAX	chr3:42542424-42544191	H1-hESC	embryonic stem cell:	n/a	n/a
6	EGR1	chr3:42542415-42542831	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42529189..42533440-chr3:42542111..42547805,7	MCF-7	breast:

Variant related genes	Relation type
VIPR1	TF binding region
ENSG00000114812	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1876504	0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1876506	0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs755082	0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7628235	0.85[YRI][hapmap]
rs7651400	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS 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	32 gene(s)	inside rSNPs	diseases
2	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv1804804	chr3:42515186-42582403	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv527430	chr3:42534042-42557199	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1814102	chr3:42539966-42582403	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42534800-42542800	Weak transcription	Right Ventricle	heart
2	chr3:42535000-42543000	Weak transcription	Left Ventricle	heart
3	chr3:42535200-42542800	Weak transcription	Pancreas	Pancrea
4	chr3:42535600-42543000	Weak transcription	Lung	lung
5	chr3:42538400-42543000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:42539000-42542800	Weak transcription	Gastric	stomach
7	chr3:42539200-42542800	Weak transcription	Spleen	Spleen
8	chr3:42542000-42544800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr3:42542200-42542600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
10	chr3:42542200-42542600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
11	chr3:42542200-42542600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
12	chr3:42542200-42542600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:42542200-42545200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr3:42542400-42542600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr3:42542400-42542600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
16	chr3:42542400-42542600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:42542400-42542600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr3:42542400-42542800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:42542400-42542800	Enhancers	Primary hematopoietic stem cells	blood
20	chr3:42542400-42542800	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr3:42542400-42542800	Strong transcription	Right Atrium	heart
22	chr3:42542400-42543000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr3:42542400-42543000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:42542400-42543200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:42542400-42543400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr3:42542400-42543400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr3:42542400-42544600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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