Variant report

Variant	rs8191832
Chromosome Location	chr6:160479789-160479790
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	chr6:160473015..160476167-chr6:160476466..160480337,3	K562	blood:
2	chr6:160400448..160401973-chr6:160477812..160480066,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1805075	0.89[ASN][1000 genomes]
rs2274849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282138	0.97[ASN][1000 genomes]
rs2282139	0.97[ASN][1000 genomes]
rs28633601	0.90[ASN][1000 genomes]
rs3777409	0.95[ASN][1000 genomes]
rs3777412	1.00[ASN][1000 genomes]
rs3798177	0.90[ASN][1000 genomes]
rs4708856	0.94[ASN][1000 genomes]
rs4709396	0.90[ASN][1000 genomes]
rs56296641	0.90[ASN][1000 genomes]
rs57905622	1.00[ASN][1000 genomes]
rs73023681	0.95[ASN][1000 genomes]
rs7746102	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760552	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8191816	1.00[ASN][1000 genomes]
rs8191818	1.00[ASN][1000 genomes]
rs8191821	1.00[ASN][1000 genomes]
rs8191829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8191847	0.99[ASN][1000 genomes]
rs8191898	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv35098	chr6:160422589-161070870	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2757197	chr6:160432331-161070870	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv818463	chr6:160435569-161025547	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8191832	RP3-393E18.1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160418600-160480400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:160444200-160490400	Weak transcription	HUVEC	blood vessel
3	chr6:160444200-160521600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr6:160449800-160489400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:160451800-160479800	Strong transcription	Fetal Intestine Small	intestine
6	chr6:160453000-160534600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:160455800-160532000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:160459200-160501200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:160459600-160519200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:160460400-160486400	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr6:160460600-160500800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:160460800-160486800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:160460800-160520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:160460800-160520200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:160461000-160490400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr6:160461000-160497400	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr6:160461000-160500600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:160461200-160500800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:160463800-160486400	Strong transcription	Stomach Smooth Muscle	stomach
20	chr6:160464400-160519800	Strong transcription	Lung	lung
21	chr6:160464600-160531800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:160465200-160484200	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:160465400-160479800	Strong transcription	Liver	Liver
24	chr6:160465400-160486000	Strong transcription	Adipose Nuclei	Adipose
25	chr6:160465400-160486800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:160465600-160530800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:160466000-160521000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:160466200-160494800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:160466800-160486800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:160469000-160489400	Weak transcription	Hela-S3	cervix
31	chr6:160469600-160493400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr6:160470400-160481000	Weak transcription	Fetal Heart	heart
33	chr6:160471000-160484400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:160471600-160480800	Weak transcription	A549	lung
35	chr6:160472600-160486800	Strong transcription	Thymus	Thymus
36	chr6:160472600-160489000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr6:160472800-160486600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:160472800-160489400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:160472800-160489600	Strong transcription	Dnd41	blood
40	chr6:160473000-160480000	Weak transcription	Fetal Brain Male	brain
41	chr6:160473000-160484200	Weak transcription	Psoas Muscle	Psoas
42	chr6:160473200-160488000	Strong transcription	Fetal Muscle Leg	muscle
43	chr6:160474200-160486400	Strong transcription	Brain Germinal Matrix	brain
44	chr6:160474200-160486400	Strong transcription	Fetal Brain Female	brain
45	chr6:160474200-160486400	Strong transcription	Fetal Lung	lung
46	chr6:160474200-160486400	Strong transcription	HSMMtube	muscle
47	chr6:160474200-160486600	Strong transcription	Brain Cingulate Gyrus	brain
48	chr6:160474200-160486800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:160474200-160486800	Strong transcription	Primary B cells from cord blood	blood
50	chr6:160474200-160486800	Strong transcription	Primary T cells from cord blood	blood

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