Variant report

Variant	rs4711452
Chromosome Location	chr6:36420638-36420639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36410473..36414235-chr6:36416429..36423107,7	MCF-7	breast:
2	chr6:36420006..36423129-chr6:36431937..36434628,3	K562	blood:
3	chr6:36420502..36422691-chr6:36425037..36426880,2	K562	blood:
4	chr6:36418967..36422743-chr6:36560757..36563543,3	K562	blood:
5	chr6:36420409..36426454-chr6:36560792..36565637,7	K562	blood:

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

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1003250	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10440841	0.96[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs10947609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12209346	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12214285	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12215889	0.87[ASN][1000 genomes]
rs1570368	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1744654	0.86[ASN][1000 genomes]
rs3752478	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3798471	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4140593	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4711450	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711453	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs515129	0.86[ASN][1000 genomes]
rs515186	0.82[ASN][1000 genomes]
rs517890	0.85[ASN][1000 genomes]
rs522179	0.86[ASN][1000 genomes]
rs544267	0.96[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs546272	0.87[ASN][1000 genomes]
rs546353	0.87[ASN][1000 genomes]
rs547026	0.88[ASN][1000 genomes]
rs547966	0.87[ASN][1000 genomes]
rs566742	0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs57389119	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs584196	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs584418	0.86[ASN][1000 genomes]
rs595954	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs597153	0.87[ASN][1000 genomes]
rs600192	0.88[ASN][1000 genomes]
rs605684	0.96[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs609067	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs614028	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs619011	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs621796	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs628213	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs628314	0.87[ASN][1000 genomes]
rs629297	0.87[ASN][1000 genomes]
rs629560	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs629721	0.81[ASN][1000 genomes]
rs632943	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6457918	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs648125	0.91[JPT][hapmap]
rs659726	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs664370	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs668499	0.87[CHB][hapmap]
rs6923993	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6941918	0.83[ASN][1000 genomes]
rs73411054	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7744363	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs853873	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs853881	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs853882	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs860513	0.85[ASN][1000 genomes]
rs9296183	0.81[EUR][1000 genomes]
rs9296184	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9357214	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9470274	0.86[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs9470278	0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs9470285	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9470309	0.81[AMR][1000 genomes];0.86[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
rs4711452	ETV7	cis	Whole Blood	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36411600-36439800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:36411600-36476400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:36411800-36439400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:36412200-36449200	Weak transcription	Esophagus	oesophagus
5	chr6:36412400-36437800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:36412400-36438400	Weak transcription	Lung	lung
7	chr6:36412600-36422800	Weak transcription	Left Ventricle	heart
8	chr6:36412600-36427200	Weak transcription	Fetal Kidney	kidney
9	chr6:36412600-36429600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:36412600-36430600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:36412600-36430800	Weak transcription	Small Intestine	intestine
12	chr6:36412600-36438600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:36412600-36439200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:36412600-36449000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:36412800-36422000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:36412800-36430800	Weak transcription	Brain Substantia Nigra	brain
17	chr6:36412800-36430800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:36412800-36443400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:36412800-36447000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:36412800-36448600	Weak transcription	HMEC	breast
21	chr6:36413000-36423000	Weak transcription	Psoas Muscle	Psoas
22	chr6:36413000-36423200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:36413400-36421400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:36413400-36427000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:36413400-36427400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:36413400-36429600	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:36413400-36431200	Weak transcription	NHEK	skin
28	chr6:36413400-36431400	Weak transcription	A549	lung
29	chr6:36413400-36437800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr6:36413400-36439200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr6:36413600-36423000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:36413600-36427200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:36413600-36428400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:36413600-36429400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr6:36413600-36430800	Weak transcription	NHDF-Ad	bronchial
36	chr6:36413600-36437800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:36413800-36423400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:36413800-36423400	Weak transcription	NH-A	brain
39	chr6:36413800-36427400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:36413800-36429200	Weak transcription	HUVEC	blood vessel
41	chr6:36413800-36429400	Weak transcription	Fetal Heart	heart
42	chr6:36413800-36436800	Weak transcription	Fetal Lung	lung
43	chr6:36414800-36421600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:36415000-36429000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr6:36415200-36421200	Weak transcription	Hela-S3	cervix
46	chr6:36415200-36427200	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:36415600-36425600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:36415600-36426400	Weak transcription	Ovary	ovary
49	chr6:36415800-36428000	Weak transcription	Right Atrium	heart
50	chr6:36415800-36428400	Weak transcription	Aorta	Aorta

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