Variant report

Variant	rs7772027
Chromosome Location	chr6:27682914-27682915
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27677806..27681371-chr6:27682071..27685052,3	K562	blood:
2	chr6:27671590..27673866-chr6:27681015..27683164,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10214440	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10484401	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1139226	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13211701	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13215072	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1985099	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs200468	0.80[ASN][1000 genomes]
rs2056925	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2092075	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2179094	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2179095	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2394000	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2394002	0.88[EUR][1000 genomes]
rs2893929	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2893930	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2893931	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34752872	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35069907	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35957409	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4140646	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4711163	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4713118	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4713121	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6901520	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6902689	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6914924	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6922574	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6930992	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs742046	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs742047	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs760587	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7756968	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7759217	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7760523	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7773070	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7776351	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9283880	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9283881	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9283882	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9283883	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9295740	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9295742	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9295743	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9295746	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9348774	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9348775	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9357045	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9366700	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9366702	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9368528	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9368529	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9368530	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9380010	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9380011	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380012	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9393847	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9393848	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9461401	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9461405	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9461406	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9468195	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9468199	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9468200	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9468201	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9468203	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9468204	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9468206	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9468214	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9468217	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9468219	0.89[EUR][1000 genomes]
rs9468220	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9468223	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9468229	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv437481	chr6:27655096-27683572	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv601204	chr6:27655564-27689502	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv601205	chr6:27656255-27730064	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv437482	chr6:27670917-27683572	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7772027	OR2B8P	cis	Thyroid	GTEx
rs7772027	AL022393.7	cis	Muscle Skeletal	GTEx
rs7772027	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs7772027	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27662400-27684600	Weak transcription	Lung	lung
2	chr6:27662400-27685600	Weak transcription	Esophagus	oesophagus
3	chr6:27662600-27684000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:27662800-27684000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:27662800-27684800	Weak transcription	Fetal Kidney	kidney
6	chr6:27662800-27688400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:27662800-27688600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:27662800-27689000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:27663000-27688600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:27663200-27683800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:27663200-27688400	Weak transcription	HMEC	breast
12	chr6:27663400-27687800	Weak transcription	NHEK	skin
13	chr6:27664600-27684600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:27668200-27684400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:27669800-27684400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:27671400-27687200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:27671600-27688600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:27672200-27683000	Weak transcription	Hela-S3	cervix
19	chr6:27673000-27684800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:27673200-27684800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:27673600-27687600	Weak transcription	Fetal Intestine Small	intestine
22	chr6:27674600-27687000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:27675200-27685000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr6:27677800-27683600	Weak transcription	Small Intestine	intestine
25	chr6:27678800-27684000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:27678800-27689000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:27679000-27685000	Weak transcription	Fetal Lung	lung
28	chr6:27679200-27686600	Weak transcription	Fetal Brain Male	brain
29	chr6:27679400-27688400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:27681200-27683800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:27681200-27685000	Weak transcription	Fetal Thymus	thymus
32	chr6:27681200-27685200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr6:27681200-27685600	Weak transcription	Primary T cells from cord blood	blood
34	chr6:27681200-27685600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:27681200-27686600	Weak transcription	K562	blood
36	chr6:27681200-27687000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:27681200-27687200	Weak transcription	HepG2	liver
38	chr6:27681200-27688200	Weak transcription	A549	lung
39	chr6:27681200-27688600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr6:27681200-27688600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:27681200-27688600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:27681200-27688800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:27681200-27688800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:27681400-27684200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr6:27681400-27684400	Weak transcription	Thymus	Thymus
46	chr6:27681400-27686200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:27681600-27683200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:27681600-27692200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:27681800-27683800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr6:27681800-27683800	Weak transcription	Brain Germinal Matrix	brain

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