Variant report

Variant	rs9296184
Chromosome Location	chr6:36444456-36444457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36409375..36411773-chr6:36442456..36444816,2	MCF-7	breast:
2	chr6:36089363..36091687-chr6:36443783..36446163,2	K562	blood:
3	chr6:36437874..36441513-chr6:36442107..36445031,4	K562	blood:
4	chr6:36443244..36450154-chr6:36560815..36564510,7	K562	blood:
5	chr6:36407760..36411032-chr6:36443705..36447898,5	K562	blood:

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

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1003250	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10947609	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12209346	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12214285	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1570368	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3752478	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3798471	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4140593	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4711450	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4711452	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4711453	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57389119	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs584196	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs595954	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs605684	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs609067	0.81[EUR][1000 genomes]
rs614028	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs619011	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs621796	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs628213	0.81[EUR][1000 genomes]
rs629560	0.81[EUR][1000 genomes]
rs632943	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6457918	0.81[AMR][1000 genomes]
rs659726	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6923993	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73411054	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7744363	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs853881	0.84[EUR][1000 genomes]
rs853882	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9357214	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9470285	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv350047	chr6:36443236-36445871	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9296184	ETV7	cis	Whole Blood	GTEx

Chromatin state (count:125 , 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	chr6:36412200-36449200	Weak transcription	Esophagus	oesophagus
3	chr6:36412600-36449000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:36412800-36447000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:36412800-36448600	Weak transcription	HMEC	breast
6	chr6:36419000-36449200	Weak transcription	Pancreas	Pancrea
7	chr6:36423000-36449400	Weak transcription	Gastric	stomach
8	chr6:36423400-36449600	Weak transcription	Stomach Mucosa	stomach
9	chr6:36427600-36449200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:36428600-36445800	Weak transcription	Aorta	Aorta
11	chr6:36428800-36456600	Weak transcription	Right Atrium	heart
12	chr6:36429800-36449200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:36430000-36444600	Weak transcription	Fetal Heart	heart
14	chr6:36430000-36446000	Weak transcription	HUVEC	blood vessel
15	chr6:36430800-36488800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:36431200-36453600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:36431600-36447600	Weak transcription	Brain Angular Gyrus	brain
18	chr6:36431600-36449000	Weak transcription	Small Intestine	intestine
19	chr6:36431600-36449200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:36431800-36449000	Weak transcription	A549	lung
21	chr6:36432000-36446800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:36432400-36449000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:36432400-36449200	Weak transcription	NHDF-Ad	bronchial
24	chr6:36433800-36449200	Weak transcription	NHLF	lung
25	chr6:36436400-36448800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:36436800-36452400	Weak transcription	Fetal Brain Male	brain
27	chr6:36437000-36450400	Strong transcription	Dnd41	blood
28	chr6:36437200-36449400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:36437200-36455600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:36437200-36461400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr6:36437400-36446200	Weak transcription	Fetal Kidney	kidney
32	chr6:36437800-36444600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:36437800-36445000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:36437800-36450400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:36437800-36450600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:36437800-36455400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:36437800-36468000	Strong transcription	Fetal Muscle Leg	muscle
38	chr6:36437800-36477600	Strong transcription	Fetal Thymus	thymus
39	chr6:36438000-36444600	Strong transcription	Placenta	Placenta
40	chr6:36438000-36449200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr6:36438000-36455200	Strong transcription	Osteobl	bone
42	chr6:36438000-36461000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:36438800-36446400	Weak transcription	Lung	lung
44	chr6:36439000-36445000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:36439600-36446000	Weak transcription	Fetal Brain Female	brain
46	chr6:36439600-36446600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:36439600-36447200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr6:36439600-36448000	Weak transcription	Ovary	ovary
49	chr6:36439600-36448400	Weak transcription	Brain Hippocampus Middle	brain
50	chr6:36439600-36449200	Weak transcription	Placenta Amnion	Placenta Amnion

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