Variant report

Variant	rs57389119
Chromosome Location	chr6:36453564-36453565
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36409423..36411870-chr6:36452711..36455432,2	MCF-7	breast:
2	chr6:36446487..36448077-chr6:36452872..36455429,2	K562	blood:
3	chr6:36452948..36456430-chr6:36560513..36564583,7	K562	blood:
4	chr6:36452948..36456430-chr6:36560513..36563546,5	K562	blood:

Variant related genes	Relation type
ENSG00000112081	Chromatin interaction
ENSG00000179165	Chromatin interaction
ENSG00000112078	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1003250	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10440841	0.87[ASN][1000 genomes]
rs10947609	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12209346	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12214285	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12215889	0.88[ASN][1000 genomes]
rs1570368	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744654	0.87[ASN][1000 genomes]
rs3752478	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3798471	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4140593	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4711450	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4711452	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4711453	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515129	0.87[ASN][1000 genomes]
rs515186	0.83[ASN][1000 genomes]
rs517890	0.86[ASN][1000 genomes]
rs522179	0.88[ASN][1000 genomes]
rs544267	0.88[ASN][1000 genomes]
rs546272	0.88[ASN][1000 genomes]
rs546353	0.88[ASN][1000 genomes]
rs547026	0.90[ASN][1000 genomes]
rs547966	0.88[ASN][1000 genomes]
rs566742	0.88[ASN][1000 genomes]
rs584196	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs584418	0.88[ASN][1000 genomes]
rs595954	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs597153	0.88[ASN][1000 genomes]
rs600192	0.89[ASN][1000 genomes]
rs605684	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs609067	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs614028	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs619011	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs621796	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs628213	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs628314	0.88[ASN][1000 genomes]
rs629297	0.88[ASN][1000 genomes]
rs629560	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs629721	0.82[ASN][1000 genomes]
rs632943	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6457918	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs659726	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs664370	0.88[ASN][1000 genomes]
rs6923993	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6941918	0.84[ASN][1000 genomes]
rs73411054	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744363	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs853873	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs853881	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs853882	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs860513	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs863815	0.80[ASN][1000 genomes]
rs9296184	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9357214	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9470274	0.88[ASN][1000 genomes]
rs9470278	0.88[ASN][1000 genomes]
rs9470285	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9470309	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[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
rs57389119	ETV7	cis	Whole Blood	GTEx

Chromatin state (count:126 , 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	chr6:36428800-36456600	Weak transcription	Right Atrium	heart
3	chr6:36430800-36488800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:36431200-36453600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:36437200-36455600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:36437200-36461400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:36437800-36455400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr6:36437800-36468000	Strong transcription	Fetal Muscle Leg	muscle
9	chr6:36437800-36477600	Strong transcription	Fetal Thymus	thymus
10	chr6:36438000-36455200	Strong transcription	Osteobl	bone
11	chr6:36438000-36461000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:36442000-36459000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:36442200-36460200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr6:36442800-36461200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:36444600-36459800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:36445000-36455000	Strong transcription	NH-A	brain
17	chr6:36445200-36455400	Weak transcription	Fetal Heart	heart
18	chr6:36445400-36461200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:36445600-36457800	Strong transcription	Fetal Intestine Large	intestine
20	chr6:36445800-36455200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:36446000-36457200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr6:36446000-36457600	Strong transcription	Placenta	Placenta
23	chr6:36446000-36460000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr6:36446200-36457800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:36446200-36458200	Strong transcription	Liver	Liver
26	chr6:36446800-36456200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:36447000-36456000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:36447200-36455400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:36447200-36477600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:36447400-36456000	Strong transcription	Fetal Intestine Small	intestine
31	chr6:36447400-36477800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:36447600-36455200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:36448000-36455600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr6:36448200-36457200	Weak transcription	Right Ventricle	heart
35	chr6:36448200-36461200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:36449800-36453800	Weak transcription	Brain Anterior Caudate	brain
37	chr6:36449800-36453800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr6:36449800-36453800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr6:36449800-36454200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:36449800-36454200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr6:36449800-36454400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr6:36449800-36454400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:36449800-36454400	Weak transcription	Pancreas	Pancrea
44	chr6:36449800-36454600	Weak transcription	Brain Angular Gyrus	brain
45	chr6:36449800-36454600	Weak transcription	NHLF	lung
46	chr6:36449800-36455600	Weak transcription	HUVEC	blood vessel
47	chr6:36449800-36456000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr6:36449800-36456400	Weak transcription	Gastric	stomach
49	chr6:36449800-36458600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr6:36449800-36461600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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