Variant report

Variant	rs6710496
Chromosome Location	chr2:127976374-127976375
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127973375..127977110-chr2:128049967..128052200,3	MCF-7	breast:
2	chr2:127957550..127959520-chr2:127975505..127977152,2	MCF-7	breast:
3	chr2:127974300..127976848-chr2:127983797..127985574,2	MCF-7	breast:
4	chr2:127975205..127977314-chr2:127992465..127995136,2	K562	blood:

Variant related genes	Relation type
ENSG00000163161	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13017099	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1504136	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604817	0.84[EUR][1000 genomes]
rs2404532	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4536600	0.84[EUR][1000 genomes]
rs4662714	0.84[EUR][1000 genomes]
rs4662715	0.82[EUR][1000 genomes]
rs6430934	0.94[EUR][1000 genomes]
rs7567389	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585314	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv961678	chr2:127961305-127979990	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3331416	chr2:127962771-127980988	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6710496	ERCC3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127974600-127976400	Flanking Active TSS	Hela-S3	cervix
2	chr2:127975200-127976400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:127975200-127977200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:127975600-127976400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
5	chr2:127975600-127976400	Bivalent Enhancer	Placenta	Placenta
6	chr2:127975600-127976800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:127975600-127977000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:127975600-127977200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:127975600-127977800	Enhancers	Lung	lung
10	chr2:127975600-127978200	Active TSS	NHEK	skin
11	chr2:127975600-127979000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr2:127975800-127976400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:127975800-127976400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:127975800-127976600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:127975800-127976800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:127975800-127977000	Bivalent/Poised TSS	NHDF-Ad	bronchial
17	chr2:127975800-127977200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr2:127975800-127978000	Active TSS	Esophagus	oesophagus
19	chr2:127975800-127978200	Active TSS	A549	lung
20	chr2:127975800-127978800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:127976000-127976400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:127976000-127976400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:127976000-127976400	Bivalent Enhancer	Primary T cells from cord blood	blood
24	chr2:127976000-127976600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr2:127976000-127976600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr2:127976000-127976600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr2:127976000-127976800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr2:127976000-127976800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:127976000-127976800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr2:127976000-127977000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr2:127976000-127977000	Flanking Active TSS	HMEC	breast
32	chr2:127976000-127977200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
33	chr2:127976000-127977800	Active TSS	NH-A	brain
34	chr2:127976000-127978800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:127976200-127976400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:127976200-127976400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:127976200-127976400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:127976200-127976400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
39	chr2:127976200-127976400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:127976200-127976400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
41	chr2:127976200-127976400	Bivalent/Poised TSS	Primary B cells from cord blood	blood
42	chr2:127976200-127976400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
43	chr2:127976200-127976400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr2:127976200-127976400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:127976200-127976400	Enhancers	Liver	Liver
46	chr2:127976200-127976400	Bivalent Enhancer	Brain Angular Gyrus	brain
47	chr2:127976200-127976400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
48	chr2:127976200-127976400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:127976200-127976400	Bivalent/Poised TSS	Colonic Mucosa	Colon
50	chr2:127976200-127976400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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