Variant report

Variant	rs3817473
Chromosome Location	chr6:34949451-34949452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34944340..34947621-chr6:34949271..34952410,3	MCF-7	breast:
2	chr6:34854212..34855894-chr6:34947820..34949596,2	K562	blood:
3	chr6:34948492..34952297-chr6:34954153..34956386,4	K562	blood:
4	chr6:34943502..34945906-chr6:34947769..34950337,3	K562	blood:
5	chr6:34948492..34951112-chr6:34954153..34956114,2	K562	blood:

Variant related genes	Relation type
ENSG00000064995	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11969436	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1535001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1996912	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes]
rs2473615	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][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];0.85[AMR][1000 genomes]
rs3823438	0.90[JPT][hapmap]
rs4646926	0.96[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4646949	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][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];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs847846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[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];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs847851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs847858	0.81[JPT][hapmap]
rs847859	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]
rs9380469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]

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
rs3817473	UHRF1BP1	cis	Muscle Skeletal	GTEx
rs3817473	UHRF1BP1	cis	Esophagus Muscularis	GTEx
rs3817473	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs3817473	UHRF1BP1	cis	Artery Tibial	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34920400-34958600	Weak transcription	Colonic Mucosa	Colon
2	chr6:34922000-34953800	Weak transcription	Hela-S3	cervix
3	chr6:34922800-34950200	Weak transcription	Brain Germinal Matrix	brain
4	chr6:34925600-34984800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:34926800-34992200	Weak transcription	Small Intestine	intestine
6	chr6:34927200-34952200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:34929400-34963400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:34929800-34953800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:34931600-34954800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:34932400-34981800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:34932800-34962400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:34933000-34952600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:34935200-34950400	Weak transcription	Right Ventricle	heart
14	chr6:34935200-34954800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:34935200-34958800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:34938400-34949600	Weak transcription	Brain Angular Gyrus	brain
17	chr6:34938400-34949600	Weak transcription	Fetal Lung	lung
18	chr6:34938400-34954800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:34938600-34949600	Weak transcription	Fetal Brain Female	brain
20	chr6:34938600-34949600	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:34938800-34952800	Weak transcription	Aorta	Aorta
22	chr6:34939000-34949600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:34939000-34950400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:34939200-34950600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:34939400-34949600	Weak transcription	Brain Anterior Caudate	brain
26	chr6:34939400-34949800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:34939400-34950400	Weak transcription	Fetal Kidney	kidney
28	chr6:34939400-34958600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr6:34939400-34978200	Weak transcription	Psoas Muscle	Psoas
30	chr6:34939400-35016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:34939600-34949600	Weak transcription	HepG2	liver
32	chr6:34940000-34949800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:34940200-34949600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:34940200-34950400	Weak transcription	HMEC	breast
35	chr6:34940600-34949600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr6:34940600-34950000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:34941200-34949600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:34941200-34950000	Weak transcription	Primary B cells from cord blood	blood
39	chr6:34941400-34949600	Weak transcription	Placenta	Placenta
40	chr6:34941400-34952000	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:34944000-34954400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr6:34944600-34967200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr6:34945200-34962200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:34945200-34967200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr6:34947800-34967000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:34948000-34949600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:34948200-34963600	Strong transcription	Fetal Intestine Large	intestine
48	chr6:34948400-34949600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:34948400-34954400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:34948600-34954400	Strong transcription	Ovary	ovary

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