Variant report

Variant	rs847859
Chromosome Location	chr6:34937472-34937473
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34927133..34929611-chr6:34935086..34937533,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11969436	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1535001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996912	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2473615	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2820232	0.90[JPT][hapmap]
rs2820233	0.90[JPT][hapmap]
rs2820237	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3817473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3823438	0.90[JPT][hapmap]
rs4646926	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4646949	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6912327	0.86[CEU][hapmap]
rs7753949	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs847851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs847858	0.81[JPT][hapmap]
rs9380469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9394248	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv5257	chr6:34925313-34970101	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs847859	UHRF1BP1	cis	Muscle Skeletal	GTEx
rs847859	UHRF1BP1	cis	Esophagus Muscularis	GTEx
rs847859	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs847859	UHRF1BP1	cis	Artery Tibial	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34895800-34949200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:34907400-34937600	Weak transcription	Dnd41	blood
3	chr6:34918600-34938400	Weak transcription	Thymus	Thymus
4	chr6:34920400-34958600	Weak transcription	Colonic Mucosa	Colon
5	chr6:34921200-34937600	Weak transcription	Aorta	Aorta
6	chr6:34921200-34949400	Weak transcription	Esophagus	oesophagus
7	chr6:34921600-34937600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:34921600-34937800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:34921600-34949400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:34921800-34938800	Weak transcription	HMEC	breast
11	chr6:34922000-34953800	Weak transcription	Hela-S3	cervix
12	chr6:34922600-34940200	Weak transcription	A549	lung
13	chr6:34922600-34940800	Weak transcription	Stomach Mucosa	stomach
14	chr6:34922800-34950200	Weak transcription	Brain Germinal Matrix	brain
15	chr6:34925600-34984800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:34925800-34937800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:34926000-34937600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:34926000-34937600	Weak transcription	Fetal Lung	lung
19	chr6:34926000-34937600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr6:34926600-34937600	Weak transcription	Liver	Liver
21	chr6:34926600-34937800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:34926800-34937800	Weak transcription	Brain Angular Gyrus	brain
23	chr6:34926800-34992200	Weak transcription	Small Intestine	intestine
24	chr6:34927000-34937600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:34927000-34937600	Weak transcription	Fetal Intestine Large	intestine
26	chr6:34927000-34937800	Weak transcription	Gastric	stomach
27	chr6:34927200-34937600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr6:34927200-34952200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:34928000-34938000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:34928400-34949400	Weak transcription	Pancreas	Pancrea
31	chr6:34928600-34937800	Weak transcription	Lung	lung
32	chr6:34928800-34937800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:34929000-34937600	Weak transcription	Brain Substantia Nigra	brain
34	chr6:34929200-34937800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:34929400-34937600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr6:34929400-34937600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr6:34929400-34937600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:34929400-34937800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:34929400-34937800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:34929400-34963400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr6:34929600-34937600	Weak transcription	Fetal Thymus	thymus
42	chr6:34929600-34937800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:34929600-34937800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:34929600-34937800	Weak transcription	Spleen	Spleen
45	chr6:34929600-34938000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr6:34929800-34937600	Weak transcription	Ovary	ovary
47	chr6:34929800-34937800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr6:34929800-34937800	Weak transcription	Brain Anterior Caudate	brain
49	chr6:34929800-34937800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr6:34929800-34953800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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