Variant report

Variant	rs967507
Chromosome Location	chr2:179367086-179367087
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179359085..179362406-chr2:179364736..179367288,3	MCF-7	breast:
2	chr2:179349410..179352916-chr2:179365424..179367731,3	K562	blood:
3	chr2:179365289..179368073-chr2:179371154..179373608,2	MCF-7	breast:
4	chr2:179355494..179357209-chr2:179364839..179367204,2	MCF-7	breast:
5	chr2:179364022..179368835-chr2:179377215..179381031,4	K562	blood:

Variant related genes	Relation type
ENSG00000116095	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1001238	0.86[CHB][hapmap]
rs10207436	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10930831	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12052983	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs13411588	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1559908	1.00[JPT][hapmap]
rs1560221	0.86[CHB][hapmap]
rs16866334	1.00[JPT][hapmap]
rs16866342	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16866400	0.86[CHB][hapmap]
rs16866420	0.86[CHB][hapmap]
rs1978580	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2016615	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2042996	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs2059691	0.85[JPT][hapmap]
rs2114582	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2163009	0.86[CHB][hapmap]
rs2249737	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs2288322	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2303536	1.00[JPT][hapmap]
rs2303537	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.94[ASN][1000 genomes]
rs2366751	0.86[CHB][hapmap]
rs2886712	0.85[ASN][1000 genomes]
rs33998881	0.80[ASN][1000 genomes]
rs3731750	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs3731754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752689	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3769864	0.81[CHB][hapmap]
rs3769866	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3813250	0.81[CHB][hapmap]
rs3829746	0.86[CHB][hapmap]
rs4894017	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs4894020	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4894029	0.86[CHB][hapmap]
rs60488846	0.80[ASN][1000 genomes]
rs6704545	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6710856	0.89[ASN][1000 genomes]
rs6723399	0.86[ASN][1000 genomes]
rs6726043	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6735077	0.83[ASN][1000 genomes]
rs6739142	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6753709	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6758838	0.88[ASN][1000 genomes]
rs7575643	1.00[JPT][hapmap]
rs7577862	1.00[JPT][hapmap]
rs7587593	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7588593	0.80[ASN][1000 genomes]
rs7589679	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7598228	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7600176	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7602597	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8179648	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs9288019	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs957875	0.95[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs9808377	0.86[CHB][hapmap]
rs9967820	1.00[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv834468	chr2:179351116-179533625	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv3391345	chr2:179365787-179368584	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3442618	chr2:179366898-179367368	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179346400-179387800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:179347400-179369400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:179347600-179371000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:179350400-179371600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:179350400-179371600	Strong transcription	Dnd41	blood
6	chr2:179350400-179372400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:179350400-179372400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:179350400-179384400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:179350600-179371200	Strong transcription	Duodenum Mucosa	Duodenum
10	chr2:179350600-179372200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:179350800-179370600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:179350800-179371600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:179350800-179372000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr2:179350800-179372000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:179351000-179368800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:179352800-179372200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:179353400-179369000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:179353600-179371600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:179353800-179368400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:179354000-179371600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:179354400-179371400	Strong transcription	Placenta	Placenta
22	chr2:179354400-179371600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:179354400-179372000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:179354600-179370000	Strong transcription	Liver	Liver
25	chr2:179354600-179373000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:179354600-179373000	Strong transcription	HSMM	muscle
27	chr2:179355000-179368000	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:179355200-179369000	Strong transcription	Fetal Intestine Large	intestine
29	chr2:179356000-179367200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:179356000-179368400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:179356000-179368400	Strong transcription	Primary B cells from cord blood	blood
32	chr2:179357600-179368600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr2:179358200-179367800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:179358200-179367800	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr2:179358200-179369600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr2:179358200-179369800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr2:179358200-179372800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:179358600-179368600	Strong transcription	A549	lung
39	chr2:179358600-179370000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:179358600-179370000	Strong transcription	Adipose Nuclei	Adipose
41	chr2:179358600-179370600	Strong transcription	Fetal Thymus	thymus
42	chr2:179359400-179371000	Weak transcription	Colonic Mucosa	Colon
43	chr2:179359400-179382800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:179359600-179367400	Weak transcription	Psoas Muscle	Psoas
45	chr2:179359600-179371400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:179359600-179387600	Weak transcription	Right Ventricle	heart
47	chr2:179359600-179387800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:179360600-179382400	Weak transcription	Gastric	stomach
49	chr2:179360600-179383200	Weak transcription	Pancreas	Pancrea
50	chr2:179360800-179369600	Weak transcription	Esophagus	oesophagus

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