Variant report

Variant	rs2234071
Chromosome Location	chr6:36355372-36355373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36352878..36356022-chr6:36409199..36411763,4	K562	blood:
2	chr6:36352652..36355628-chr6:36561325..36563176,3	K562	blood:

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

Extended variants
information (count: 45 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1076928	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1076929	0.88[CHD][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs11755362	0.86[ASN][1000 genomes]
rs11757823	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759903	0.86[ASN][1000 genomes]
rs13210133	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145749	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2187810	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234064	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3798480	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4295471	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4308555	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs4713968	0.85[ASN][1000 genomes]
rs56077076	0.82[ASN][1000 genomes]
rs6905318	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6906885	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6919571	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6928048	0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs6931970	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7755006	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7765868	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7766404	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7771459	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs881647	0.87[EUR][1000 genomes]
rs9296180	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9296181	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9296182	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9357212	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9357213	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9366904	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9368924	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368926	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9368928	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9368929	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9368930	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9368931	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9380569	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9380572	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9394349	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9394350	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9462182	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9470270	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9470278	0.81[CHD][hapmap]

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	nsv428481	chr6:36219000-36365746	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2234071	ETV7	cis	lung	GTEx
rs2234071	RPS25	trans	parietal	SCAN
rs2234071	TULP1	cis	cerebellum	SCAN
rs2234071	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	chr6:36353600-36355800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr6:36353800-36355800	Active TSS	Aorta	Aorta
3	chr6:36354000-36355400	Flanking Bivalent TSS/Enh	Dnd41	blood
4	chr6:36354000-36355600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
5	chr6:36354000-36355800	Active TSS	Brain Substantia Nigra	brain
6	chr6:36354000-36355800	Active TSS	Stomach Mucosa	stomach
7	chr6:36354000-36356000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr6:36354000-36356000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
9	chr6:36354000-36356000	Active TSS	Lung	lung
10	chr6:36354000-36356000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
11	chr6:36354000-36356200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:36354000-36356200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr6:36354000-36356200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr6:36354000-36356200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr6:36354000-36356400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:36354200-36355400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
21	chr6:36354200-36355600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:36354200-36355600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
23	chr6:36354200-36355600	Active TSS	Esophagus	oesophagus
24	chr6:36354200-36355600	Bivalent/Poised TSS	Fetal Kidney	kidney
25	chr6:36354200-36355600	Active TSS	Small Intestine	intestine
26	chr6:36354200-36355800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:36354200-36355800	Active TSS	Colon Smooth Muscle	Colon
28	chr6:36354200-36355800	Active TSS	Duodenum Mucosa	Duodenum
29	chr6:36354200-36355800	Active TSS	Ovary	ovary
30	chr6:36354200-36355800	Active TSS	Pancreas	Pancrea
31	chr6:36354200-36356000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
33	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
34	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
35	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
36	chr6:36354200-36356000	Active TSS	Brain Hippocampus Middle	brain
37	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr6:36354200-36356000	Active TSS	Gastric	stomach
39	chr6:36354200-36356200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr6:36354200-36356200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr6:36354200-36356200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
43	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
44	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:36354200-36356200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
48	chr6:36354200-36356200	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr6:36354200-36356400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
50	chr6:36354400-36355400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood

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