Variant report

Variant	rs2234064
Chromosome Location	chr6:36356002-36356003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZEB1	chr6:36355947-36356161	GM12878	blood:	n/a	n/a
2	ELF1	chr6:36354669-36356235	GM12878	blood:	n/a	chr6:36355140-36355151
3	POLR2A	chr6:36355929-36356031	MCF-7	breast:	n/a	n/a
4	POLR2A	chr6:36354331-36356285	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36352878..36356022-chr6:36409199..36411763,4	K562	blood:

Variant related genes	Relation type
ETV7	TF binding region
ENSG00000179165	Chromatin interaction
ENSG00000112078	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1076928	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11757823	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13210133	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2145749	0.82[ASN][1000 genomes]
rs2187810	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2234071	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3798480	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4295471	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4308555	0.80[ASN][1000 genomes]
rs6905318	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906885	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6919571	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6931970	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7755006	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7765868	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7766404	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7771459	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs881647	0.93[EUR][1000 genomes]
rs9296180	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9296181	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9296182	0.84[ASN][1000 genomes]
rs9357212	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9357213	0.81[ASN][1000 genomes]
rs9366904	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9368924	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368926	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9368928	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9368929	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9368930	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9368931	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9380569	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9380572	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9394349	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9394350	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9462182	0.82[ASN][1000 genomes]
rs9470270	0.85[EUR][1000 genomes];0.85[ASN][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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2234064	ETV7	cis	Whole Blood	GTEx
rs2234064	ETV7	cis	lung	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36354000-36356200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:36354000-36356200	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr6:36354000-36356200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr6:36354000-36356200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
8	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	HepG2	liver
9	chr6:36354000-36356400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr6:36354200-36356200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr6:36354200-36356200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:36354200-36356200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
14	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
15	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:36354200-36356200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
19	chr6:36354200-36356200	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr6:36354200-36356400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
21	chr6:36354400-36356200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:36354400-36356200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:36354400-36356200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:36354400-36356200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr6:36354400-36356400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
26	chr6:36354600-36356200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr6:36354600-36356200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr6:36354600-36356200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
29	chr6:36354600-36356200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr6:36354600-36356200	Flanking Active TSS	Colonic Mucosa	Colon
31	chr6:36354800-36356200	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr6:36354800-36356200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr6:36355000-36356200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr6:36355000-36356200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:36355000-36356200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
36	chr6:36355400-36356200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
37	chr6:36355400-36356200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:36355400-36356200	Active TSS	Brain Angular Gyrus	brain
39	chr6:36355400-36356200	Bivalent Enhancer	Fetal Brain Male	brain
40	chr6:36355400-36356200	Active TSS	Rectal Smooth Muscle	rectum
41	chr6:36355400-36356200	Bivalent/Poised TSS	HSMM	muscle
42	chr6:36355600-36356200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:36355600-36356200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:36355600-36356200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
45	chr6:36355800-36356200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr6:36355800-36356200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:36355800-36356200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:36355800-36356200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:36355800-36356200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr6:36355800-36356200	Flanking Active TSS	Placenta	Placenta

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