Variant report

Variant	rs4295471
Chromosome Location	chr6:36390434-36390435
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36389834..36391684-chr6:36567056..36568861,2	K562	blood:
2	chr6:36386192..36388586-chr6:36389623..36392544,5	K562	blood:
3	chr6:36388375..36397373-chr6:36559893..36568556,25	K562	blood:
4	chr6:36389876..36393968-chr6:36394401..36398329,5	MCF-7	breast:
5	chr6:36377091..36379278-chr6:36389922..36392675,3	K562	blood:
6	chr6:36389540..36391861-chr6:36455573..36458214,2	K562	blood:
7	chr6:36206019..36207605-chr6:36389629..36391661,2	K562	blood:
8	chr6:36389800..36393846-chr6:36407559..36413586,10	MCF-7	breast:
9	chr6:36382930..36386089-chr6:36390051..36393397,5	K562	blood:
10	chr6:36388047..36404187-chr6:36407090..36418492,47	K562	blood:
11	chr6:36386467..36388815-chr6:36389066..36391918,3	MCF-7	breast:
12	chr6:36389826..36395258-chr6:36409228..36414565,11	MCF-7	breast:
13	chr6:36389514..36391373-chr6:36570790..36573256,2	K562	blood:
14	chr6:36354194..36357304-chr6:36389625..36391809,3	MCF-7	breast:
15	chr6:36387051..36388586-chr6:36389623..36391841,2	K562	blood:
16	chr6:36388539..36397962-chr6:36560062..36566089,23	K562	blood:
17	chr6:36390093..36392459-chr6:36560084..36563405,4	MCF-7	breast:
18	chr6:36390037..36391654-chr6:36397187..36400029,2	K562	blood:
19	chr6:36389979..36392367-chr6:36513039..36514826,2	MCF-7	breast:
20	chr6:36388941..36391897-chr6:36513607..36515453,2	K562	blood:
21	chr6:36389566..36392929-chr6:36393759..36397072,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000010030	Chromatin interaction
ENSG00000224666	Chromatin interaction
ENSG00000179165	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000112078	Chromatin interaction
ENSG00000112079	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1076928	0.96[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1076929	0.82[JPT][hapmap]
rs11757823	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13210133	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2071809	0.83[CHB][hapmap]
rs2145749	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2187810	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2234064	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2234071	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3798480	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4308555	0.86[JPT][hapmap]
rs56077076	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs595954	0.84[YRI][hapmap]
rs605684	0.86[YRI][hapmap]
rs614028	0.86[YRI][hapmap]
rs619011	0.86[YRI][hapmap]
rs621796	0.86[YRI][hapmap]
rs629560	0.81[YRI][hapmap]
rs632943	0.86[YRI][hapmap]
rs659726	0.86[YRI][hapmap]
rs6905318	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6906885	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6919571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928048	0.85[JPT][hapmap]
rs6931970	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755006	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7765868	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7766404	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7771459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs881647	0.81[EUR][1000 genomes]
rs9296180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296182	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9357212	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357213	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9366904	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368924	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9368926	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9368928	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9368929	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368930	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368936	0.80[CHB][hapmap]
rs9380569	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380572	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394350	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462182	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9470270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4295471	ETV7	cis	lung	GTEx
rs4295471	ETV7	cis	Whole Blood	GTEx

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36382800-36390600	Weak transcription	HUVEC	blood vessel
2	chr6:36386600-36390600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:36386600-36390600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:36386800-36390600	Weak transcription	Placenta	Placenta
5	chr6:36386800-36390800	Weak transcription	Esophagus	oesophagus
6	chr6:36386800-36391200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:36387000-36390600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:36388000-36390600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:36388200-36390600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:36390000-36390600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:36390000-36390600	Enhancers	Brain Anterior Caudate	brain
12	chr6:36390000-36390600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr6:36390000-36390600	Enhancers	Brain Substantia Nigra	brain
14	chr6:36390000-36390600	Enhancers	Rectal Smooth Muscle	rectum
15	chr6:36390000-36390600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr6:36390000-36390600	Bivalent Enhancer	HepG2	liver
17	chr6:36390000-36390800	Enhancers	Pancreas	Pancrea
18	chr6:36390200-36390600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:36390200-36390600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:36390200-36390600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:36390200-36390600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr6:36390200-36390600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:36390200-36390600	Enhancers	Primary hematopoietic stem cells	blood
24	chr6:36390200-36390600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr6:36390200-36390600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:36390200-36390600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr6:36390200-36390600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:36390200-36390600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:36390200-36390600	Enhancers	Brain Cingulate Gyrus	brain
30	chr6:36390200-36390600	Enhancers	Colon Smooth Muscle	Colon
31	chr6:36390200-36390600	Enhancers	Fetal Intestine Large	intestine
32	chr6:36390200-36390600	Enhancers	Fetal Intestine Small	intestine
33	chr6:36390200-36390600	Enhancers	Fetal Lung	lung
34	chr6:36390200-36390600	Enhancers	Fetal Muscle Leg	muscle
35	chr6:36390200-36390600	Flanking Active TSS	A549	lung
36	chr6:36390200-36390600	Enhancers	NHDF-Ad	bronchial
37	chr6:36390200-36390600	Enhancers	NHEK	skin
38	chr6:36390200-36390800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:36390200-36390800	Flanking Active TSS	Fetal Brain Male	brain
40	chr6:36390200-36391000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:36390200-36391000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr6:36390200-36392000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:36390400-36390600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:36390400-36390600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr6:36390400-36390600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr6:36390400-36390600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr6:36390400-36390600	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr6:36390400-36390600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr6:36390400-36390600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:36390400-36390600	Enhancers	Primary monocytes fromperipheralblood	blood

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