Variant report

Variant	rs2008535
Chromosome Location	chr2:31360680-31360681
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31348773..31351647-chr2:31359918..31362358,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158089	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10190164	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10201005	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11675787	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11684970	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12105231	0.82[ASN][1000 genomes]
rs12989636	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1562023	0.82[ASN][1000 genomes]
rs17010764	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs57938947	0.82[ASN][1000 genomes]
rs59588353	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60245472	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6543605	0.81[CEU][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6543606	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs6543607	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6543609	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs6706156	1.00[JPT][hapmap]
rs6708641	0.81[ASN][1000 genomes]
rs6743542	0.90[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6747497	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7560152	1.00[JPT][hapmap]
rs7560583	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7564367	0.81[ASN][1000 genomes]
rs7596724	1.00[JPT][hapmap]
rs956747	0.94[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31359400-31361600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr2:31359400-31361800	Active TSS	A549	lung
3	chr2:31359600-31360800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr2:31359600-31361000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
5	chr2:31359600-31361800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:31359600-31362200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr2:31359800-31360800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:31359800-31361200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
9	chr2:31359800-31361600	Active TSS	HMEC	breast
10	chr2:31359800-31362000	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr2:31359800-31362000	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr2:31359800-31362000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr2:31360000-31360800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
14	chr2:31360000-31360800	Flanking Bivalent TSS/Enh	Thymus	Thymus
15	chr2:31360000-31361000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:31360000-31361000	Bivalent Enhancer	Placenta	Placenta
17	chr2:31360000-31361200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:31360000-31361200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:31360000-31361400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr2:31360000-31361600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:31360000-31361600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:31360000-31361600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr2:31360000-31361600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
24	chr2:31360000-31361600	Active TSS	NHEK	skin
25	chr2:31360000-31361800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:31360000-31361800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr2:31360000-31361800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr2:31360000-31361800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr2:31360000-31362000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:31360000-31362000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr2:31360000-31362000	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr2:31360200-31360800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:31360200-31360800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:31360200-31361000	Flanking Active TSS	Pancreas	Pancrea
35	chr2:31360200-31361200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:31360200-31361200	Active TSS	Fetal Brain Female	brain
37	chr2:31360200-31361200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
38	chr2:31360200-31361400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:31360200-31361400	Bivalent/Poised TSS	NHDF-Ad	bronchial
40	chr2:31360200-31361600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:31360200-31361600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:31360200-31361600	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:31360200-31361600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
44	chr2:31360200-31361600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
45	chr2:31360200-31361600	Bivalent/Poised TSS	Left Ventricle	heart
46	chr2:31360200-31361600	Active TSS	Right Atrium	heart
47	chr2:31360200-31361800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
48	chr2:31360200-31361800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:31360200-31361800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:31360200-31361800	Active TSS	Brain Angular Gyrus	brain

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