Variant report

Variant	rs522179
Chromosome Location	chr6:36391605-36391606
allele	A/G
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36389834..36391684-chr6:36567056..36568861,2	K562	blood:
2	chr6:36391101..36392924-chr6:36399444..36401208,2	MCF-7	breast:
3	chr6:36386192..36388586-chr6:36389623..36392544,5	K562	blood:
4	chr6:36388375..36397373-chr6:36559893..36568556,25	K562	blood:
5	chr19:1020621..1021206-chr6:36391010..36391620,2	Hela-S3	cervix:
6	chr6:36389876..36393968-chr6:36394401..36398329,5	MCF-7	breast:
7	chr6:36377091..36379278-chr6:36389922..36392675,3	K562	blood:
8	chr6:35995587..35997130-chr6:36391076..36392655,2	K562	blood:
9	chr6:36383284..36386089-chr6:36390453..36392882,2	K562	blood:
10	chr6:36389540..36391861-chr6:36455573..36458214,2	K562	blood:
11	chr6:36206019..36207605-chr6:36389629..36391661,2	K562	blood:
12	chr6:36389800..36393846-chr6:36407559..36413586,10	MCF-7	breast:
13	chr6:36390904..36392727-chr6:36403071..36404600,2	MCF-7	breast:
14	chr6:36382930..36386089-chr6:36390051..36393397,5	K562	blood:
15	chr6:36388047..36404187-chr6:36407090..36418492,47	K562	blood:
16	chr6:36391203..36392902-chr6:36402055..36405200,3	K562	blood:
17	chr6:36386467..36388815-chr6:36389066..36391918,3	MCF-7	breast:
18	chr6:36389826..36395258-chr6:36409228..36414565,11	MCF-7	breast:
19	chr6:36084210..36086558-chr6:36391180..36393773,2	K562	blood:
20	chr6:36354194..36357304-chr6:36389625..36391809,3	MCF-7	breast:
21	chr6:36387051..36388586-chr6:36389623..36391841,2	K562	blood:
22	chr6:36388539..36397962-chr6:36560062..36566089,23	K562	blood:
23	chr6:36390093..36392459-chr6:36560084..36563405,4	MCF-7	breast:
24	chr6:36390037..36391654-chr6:36397187..36400029,2	K562	blood:
25	chr6:36389979..36392367-chr6:36513039..36514826,2	MCF-7	breast:
26	chr6:36388941..36391897-chr6:36513607..36515453,2	K562	blood:
27	chr6:36389566..36392929-chr6:36393759..36397072,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000179165	Chromatin interaction
ENSG00000224666	Chromatin interaction
ENSG00000182087	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000112078	Chromatin interaction
ENSG00000112062	Chromatin interaction
ENSG00000010030	Chromatin interaction
ENSG00000112079	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1003250	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10440841	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10947609	0.84[ASN][1000 genomes]
rs12209346	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12214285	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12215889	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1570368	0.88[ASN][1000 genomes]
rs1742757	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1744654	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3752478	0.82[ASN][1000 genomes]
rs3798471	0.82[ASN][1000 genomes]
rs4140593	0.86[ASN][1000 genomes]
rs4711450	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4711452	0.86[ASN][1000 genomes]
rs4711453	0.88[ASN][1000 genomes]
rs515129	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs515186	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs517890	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs544267	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs546272	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs546353	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs547026	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs547966	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs566742	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57389119	0.88[ASN][1000 genomes]
rs584196	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs584418	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59440875	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs595954	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs597153	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs600192	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs605684	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs609067	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs614028	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs619011	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs621796	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs628213	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs628314	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629297	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629560	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs629721	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs632943	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6457918	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs659726	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs664370	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919571	0.94[AFR][1000 genomes]
rs6923993	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73411054	0.88[ASN][1000 genomes]
rs7744363	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs853881	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs853882	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs860513	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs863815	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9296180	0.93[AFR][1000 genomes]
rs9296181	0.93[AFR][1000 genomes]
rs9357212	0.93[AFR][1000 genomes]
rs9357213	0.86[AFR][1000 genomes]
rs9357214	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9368929	0.91[AFR][1000 genomes]
rs9368930	0.93[AFR][1000 genomes]
rs9368931	0.94[AFR][1000 genomes]
rs9380569	0.94[AFR][1000 genomes]
rs9380572	0.94[AFR][1000 genomes]
rs9394349	0.94[AFR][1000 genomes]
rs9462182	0.87[AFR][1000 genomes]
rs9470270	0.91[AFR][1000 genomes]
rs9470274	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9470278	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9470285	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9470309	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[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
rs522179	ETV7	cis	Whole Blood	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36390200-36392000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:36390400-36391800	Active TSS	Psoas Muscle	Psoas
3	chr6:36390400-36392200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr6:36390600-36391800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:36390600-36391800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:36390600-36391800	Active TSS	Left Ventricle	heart
7	chr6:36390600-36391800	Active TSS	Ovary	ovary
8	chr6:36390600-36391800	Active TSS	Right Atrium	heart
9	chr6:36390600-36391800	Active TSS	Right Ventricle	heart
10	chr6:36390600-36391800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr6:36390600-36392000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr6:36390600-36392000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr6:36390600-36392000	Active TSS	Aorta	Aorta
14	chr6:36390600-36392000	Active TSS	Brain Angular Gyrus	brain
15	chr6:36390600-36392000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr6:36390600-36392000	Active TSS	Brain Substantia Nigra	brain
17	chr6:36390600-36392000	Active TSS	Fetal Muscle Trunk	muscle
18	chr6:36390600-36392000	Active TSS	Fetal Stomach	stomach
19	chr6:36390600-36392200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:36390600-36392400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:36390600-36392600	Active TSS	Colonic Mucosa	Colon
22	chr6:36390800-36391800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr6:36390800-36391800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr6:36390800-36391800	Active TSS	Brain Germinal Matrix	brain
25	chr6:36390800-36391800	Active TSS	Esophagus	oesophagus
26	chr6:36390800-36391800	Active TSS	Gastric	stomach
27	chr6:36390800-36391800	Active TSS	Lung	lung
28	chr6:36390800-36392000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:36390800-36392000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:36390800-36392000	Active TSS	Brain Anterior Caudate	brain
31	chr6:36390800-36392000	Active TSS	Brain Cingulate Gyrus	brain
32	chr6:36390800-36392000	Active TSS	Fetal Brain Female	brain
33	chr6:36390800-36392000	Active TSS	Pancreas	Pancrea
34	chr6:36390800-36392000	Active TSS	NHDF-Ad	bronchial
35	chr6:36391000-36391800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:36391000-36391800	Active TSS	Colon Smooth Muscle	Colon
37	chr6:36391000-36391800	Active TSS	Fetal Intestine Small	intestine
38	chr6:36391000-36392000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr6:36391000-36392000	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr6:36391000-36392000	Active TSS	Brain Hippocampus Middle	brain
41	chr6:36391000-36392000	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr6:36391000-36392000	Active TSS	Rectal Smooth Muscle	rectum
43	chr6:36391000-36392000	Active TSS	Stomach Mucosa	stomach
44	chr6:36391000-36392000	Active TSS	Stomach Smooth Muscle	stomach
45	chr6:36391000-36392200	Active TSS	Duodenum Mucosa	Duodenum
46	chr6:36391000-36392200	Active TSS	Fetal Intestine Large	intestine
47	chr6:36391000-36392200	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr6:36391000-36392400	Active TSS	Placenta	Placenta
49	chr6:36391200-36391800	Active TSS	Fetal Brain Male	brain
50	chr6:36391200-36391800	Active TSS	Placenta Amnion	Placenta Amnion

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