Variant report

Variant	rs584196
Chromosome Location	chr6:36456243-36456244
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36455952..36458336-chr6:36565013..36567157,3	K562	blood:
2	chr6:36455769..36458609-chr6:36460357..36464482,4	MCF-7	breast:
3	chr6:36389540..36391861-chr6:36455573..36458214,2	K562	blood:
4	chr6:36454716..36456813-chr6:36580873..36583676,2	K562	blood:
5	chr6:36445569..36447904-chr6:36454097..36457090,2	K562	blood:
6	chr6:36454237..36457992-chr6:36468955..36474351,4	K562	blood:
7	chr6:36452948..36456430-chr6:36560513..36564583,7	K562	blood:
8	chr6:36448866..36452654-chr6:36455580..36458601,4	K562	blood:
9	chr6:36452948..36456430-chr6:36560513..36563546,5	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KCTD20	hsa-miR-149-5p	chr6:36456231-36456253

Variant related genes	Relation type
ENSG00000112081	Chromatin interaction
KCTD20	miRNA target site

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1003250	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10440841	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10947609	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12209346	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12214285	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215889	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233080	0.84[AMR][1000 genomes]
rs1570368	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1742757	0.81[ASN][1000 genomes]
rs1744654	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3752478	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3798471	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4140593	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711450	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4711452	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711453	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs515129	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs515186	0.87[ASN][1000 genomes]
rs517890	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs522179	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs544267	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs546272	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs546353	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs547026	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs547966	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs566742	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57389119	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs584418	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59440875	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs595954	0.84[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];0.92[ASN][1000 genomes]
rs600192	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs605684	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs609067	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs614028	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs619011	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs621796	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs628213	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs628314	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs629297	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs629560	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs629721	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs632943	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6457918	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs648125	0.83[AMR][1000 genomes]
rs659726	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs664370	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6923993	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6941918	0.81[ASN][1000 genomes]
rs73411054	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7744363	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs853873	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs853881	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs853882	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs860513	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs863815	0.83[ASN][1000 genomes]
rs9296184	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9357214	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470274	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9470278	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9470285	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9470309	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[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
rs584196	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	chr6:36437200-36461400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:36437800-36468000	Strong transcription	Fetal Muscle Leg	muscle
6	chr6:36437800-36477600	Strong transcription	Fetal Thymus	thymus
7	chr6:36438000-36461000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:36442000-36459000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:36442200-36460200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr6:36442800-36461200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:36444600-36459800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:36445400-36461200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:36445600-36457800	Strong transcription	Fetal Intestine Large	intestine
14	chr6:36446000-36457200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr6:36446000-36457600	Strong transcription	Placenta	Placenta
16	chr6:36446000-36460000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr6:36446200-36457800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:36446200-36458200	Strong transcription	Liver	Liver
19	chr6:36447200-36477600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:36447400-36477800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:36448200-36457200	Weak transcription	Right Ventricle	heart
22	chr6:36448200-36461200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:36449800-36456400	Weak transcription	Gastric	stomach
24	chr6:36449800-36458600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr6:36449800-36461600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:36449800-36461600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr6:36450000-36479800	Weak transcription	Stomach Mucosa	stomach
28	chr6:36450200-36462400	Weak transcription	Esophagus	oesophagus
29	chr6:36451000-36457800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:36451400-36456400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:36451400-36457200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:36451400-36457800	Strong transcription	K562	blood
33	chr6:36451400-36460200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:36451800-36460200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:36452000-36457200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:36452000-36457200	Strong transcription	Adipose Nuclei	Adipose
37	chr6:36452000-36457400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:36452200-36457000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:36452200-36457800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:36452200-36457800	Strong transcription	Hela-S3	cervix
41	chr6:36452200-36459800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr6:36452400-36457600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr6:36452600-36456400	Strong transcription	Fetal Stomach	stomach
44	chr6:36452600-36457000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:36452600-36457400	Strong transcription	Fetal Lung	lung
46	chr6:36452600-36457600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr6:36452600-36457800	Strong transcription	Primary T cells from cord blood	blood
48	chr6:36452600-36458200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr6:36452600-36458600	Strong transcription	Dnd41	blood
50	chr6:36452600-36459400	Strong transcription	Primary B cells from cord blood	blood

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