Variant report

Variant	rs7568070
Chromosome Location	chr2:127953054-127953055
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127947734..127951220-chr2:127951984..127955891,4	MCF-7	breast:
2	chr2:127952533..127953285-chr3:89714580..89715363,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11683344	0.84[EUR][1000 genomes]
rs11683427	0.89[CEU][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs11890243	0.85[CHB][hapmap];0.88[TSI][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	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2757832	chr2:127830943-128006514	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2759090	chr2:127830943-128006514	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7568070	ERCC3	cis	parietal	SCAN
rs7568070	ERCC3	cis	cerebellum	SCAN
rs7568070	MAP3K2	cis	cerebellum	SCAN
rs7568070	ERCC3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127934600-127955000	Weak transcription	NHEK	skin
2	chr2:127934600-127965600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:127941000-127963000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:127943000-127959400	Weak transcription	Gastric	stomach
5	chr2:127948600-127959400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:127948800-127973400	Weak transcription	HMEC	breast
7	chr2:127950400-127953600	Enhancers	Adipose Nuclei	Adipose
8	chr2:127950600-127953200	Enhancers	NHDF-Ad	bronchial
9	chr2:127950600-127953600	Enhancers	Fetal Muscle Leg	muscle
10	chr2:127950800-127953200	Enhancers	Osteobl	bone
11	chr2:127950800-127953600	Genic enhancers	Fetal Stomach	stomach
12	chr2:127951200-127953600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:127951200-127954200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:127951200-127965800	Weak transcription	Esophagus	oesophagus
15	chr2:127951400-127962200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:127951600-127953200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:127951600-127955200	Weak transcription	Psoas Muscle	Psoas
18	chr2:127951600-127958600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:127952000-127953600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:127952000-127954600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:127952000-127963000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:127952200-127953200	Enhancers	Liver	Liver
23	chr2:127952200-127953600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:127952200-127953600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:127952200-127953600	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:127952200-127959000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:127952200-127964400	Weak transcription	Right Atrium	heart
28	chr2:127952200-127975200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:127952400-127953200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:127952400-127954000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:127952400-127954200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:127952400-127954800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:127952400-127955000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:127952400-127955600	Weak transcription	Fetal Kidney	kidney
35	chr2:127952400-127958800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:127952400-127959200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:127952600-127953600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:127952800-127953200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:127952800-127953200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:127952800-127953600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:127953000-127953200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:127953000-127953400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr2:127953000-127954600	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links