Variant report

Variant	rs11757823
Chromosome Location	chr6:36356322-36356323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1076928	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1076929	0.88[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs11755362	0.86[ASN][1000 genomes]
rs11759903	0.86[ASN][1000 genomes]
rs13210133	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145749	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2187810	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234064	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2234071	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]
rs3798480	0.82[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4295471	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4308555	0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs4713968	0.85[ASN][1000 genomes]
rs56077076	0.82[ASN][1000 genomes]
rs6905318	0.89[AMR][1000 genomes];0.90[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];0.84[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.94[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];0.90[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6928048	0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs6931970	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7755006	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7765868	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7766404	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7771459	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs881647	0.86[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];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9296181	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9296182	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9357212	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9357213	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9366904	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9368924	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368926	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9368928	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9368929	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9368930	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9368931	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9380569	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9380572	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9394349	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9394350	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9462182	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9470270	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9470278	0.82[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11757823	ETV7	cis	lung	GTEx
rs11757823	ETV7	cis	Whole Blood	GTEx
rs11757823	TULP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36354000-36356400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:36354200-36356400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
3	chr6:36354400-36356400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
4	chr6:36355800-36356400	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr6:36356000-36356400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:36356000-36356400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:36356000-36356400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:36356000-36356400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr6:36356000-36356400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr6:36356000-36356400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
11	chr6:36356000-36356400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
12	chr6:36356000-36356400	Enhancers	Stomach Mucosa	stomach
13	chr6:36356200-36356400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr6:36356200-36356400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr6:36356200-36356400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:36356200-36356400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:36356200-36356400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:36356200-36356400	Enhancers	Brain Anterior Caudate	brain
19	chr6:36356200-36356400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr6:36356200-36356400	Flanking Active TSS	Fetal Intestine Large	intestine
21	chr6:36356200-36356400	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr6:36356200-36356400	Active TSS	Stomach Smooth Muscle	stomach
23	chr6:36356200-36356400	Bivalent/Poised TSS	GM12878-XiMat	blood
24	chr6:36356200-36356400	Bivalent Enhancer	HepG2	liver
25	chr6:36356200-36356400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
26	chr6:36356200-36356800	Bivalent Enhancer	Fetal Brain Female	brain
27	chr6:36356200-36365400	Weak transcription	Gastric	stomach

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