Variant report

Variant	rs659726
Chromosome Location	chr6:36467791-36467792
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36467248..36469129-chr6:36560770..36563711,2	K562	blood:
2	chr6:36467629..36469288-chr6:36562211..36564432,2	K562	blood:
3	chr6:36467730..36471370-chr6:36488666..36492692,3	K562	blood:
4	chr6:36466098..36468540-chr6:36473344..36475324,2	K562	blood:
5	chr6:36464672..36468540-chr6:36473344..36476121,3	K562	blood:

Variant related genes	Relation type
ENSG00000239964	Chromatin interaction
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1003250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10440841	0.95[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10947609	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12209346	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12214285	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12215889	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1233080	0.84[AMR][1000 genomes]
rs1570368	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1744654	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3752478	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3798471	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4140593	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4295471	0.86[YRI][hapmap]
rs4711450	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4711452	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4711453	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs515129	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs515186	0.84[ASN][1000 genomes]
rs517890	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs522179	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs544267	0.95[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs546272	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs546353	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs547026	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs547966	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs566742	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57389119	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs584196	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs584418	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59440875	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs595954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs597153	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs600192	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs605684	0.96[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs609067	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs614028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs619011	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs621796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628213	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs628314	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs629297	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs629560	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs629721	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs632943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457918	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs648125	0.87[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes]
rs664370	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs668499	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs6923993	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6941918	0.83[ASN][1000 genomes]
rs73411054	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7744363	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs853873	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs853881	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs853882	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs860513	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs863815	0.80[ASN][1000 genomes]
rs9296184	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9357214	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9394350	0.81[YRI][hapmap]
rs9470274	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9470278	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9470285	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9470309	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs659726	ETV7	cis	Whole Blood	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36411600-36476400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:36430800-36488800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:36437800-36468000	Strong transcription	Fetal Muscle Leg	muscle
4	chr6:36437800-36477600	Strong transcription	Fetal Thymus	thymus
5	chr6:36447200-36477600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:36447400-36477800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:36450000-36479800	Weak transcription	Stomach Mucosa	stomach
8	chr6:36455200-36476400	Weak transcription	Pancreas	Pancrea
9	chr6:36456400-36512600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:36457200-36469600	Strong transcription	Fetal Intestine Small	intestine
11	chr6:36457400-36484400	Weak transcription	Right Atrium	heart
12	chr6:36459400-36468000	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr6:36459600-36469600	Strong transcription	Fetal Stomach	stomach
14	chr6:36460600-36467800	Strong transcription	HSMMtube	muscle
15	chr6:36460600-36468000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:36461000-36469800	Strong transcription	Fetal Intestine Large	intestine
17	chr6:36461200-36468000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:36461200-36468000	Strong transcription	Liver	Liver
19	chr6:36461200-36468000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr6:36461200-36468000	Strong transcription	Fetal Brain Female	brain
21	chr6:36461200-36468000	Strong transcription	Fetal Lung	lung
22	chr6:36461200-36468000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr6:36461200-36468000	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr6:36461200-36468000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:36461200-36468000	Strong transcription	NH-A	brain
26	chr6:36461200-36468800	Strong transcription	Placenta	Placenta
27	chr6:36461200-36468800	Strong transcription	Dnd41	blood
28	chr6:36461200-36469200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr6:36461200-36472200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:36461200-36475400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:36461200-36475400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr6:36461400-36468000	Strong transcription	HSMM	muscle
33	chr6:36461400-36481400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:36461600-36476400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:36461800-36468400	Strong transcription	Left Ventricle	heart
36	chr6:36462000-36467800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr6:36462000-36469000	Strong transcription	Adipose Nuclei	Adipose
38	chr6:36462200-36467800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:36462200-36467800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:36462200-36467800	Strong transcription	Colon Smooth Muscle	Colon
41	chr6:36462200-36468000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:36462200-36468400	Strong transcription	Osteobl	bone
43	chr6:36462200-36473200	Weak transcription	Fetal Heart	heart
44	chr6:36462200-36477800	Strong transcription	Primary hematopoietic stem cells	blood
45	chr6:36462400-36467800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:36462400-36468000	Strong transcription	Aorta	Aorta
47	chr6:36462400-36468000	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr6:36462400-36469400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:36462400-36469800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:36462400-36470000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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