Variant report

Variant	rs2473615
Chromosome Location	chr6:34893910-34893911
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34887346..34889807-chr6:34892795..34896039,3	MCF-7	breast:
2	chr6:34891713..34895604-chr6:34895784..34899746,4	K562	blood:
3	chr6:34856254..34858967-chr6:34891774..34893975,2	MCF-7	breast:
4	chr6:34893096..34895778-chr6:34897349..34899496,2	MCF-7	breast:
5	chr6:34893290..34895416-chr6:34950224..34952119,2	K562	blood:
6	chr6:34892877..34895013-chr6:34901039..34903046,2	K562	blood:

Variant related genes	Relation type
ENSG00000064999	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10947536	0.89[GIH][hapmap]
rs11969436	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13219624	0.82[GIH][hapmap]
rs1535001	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1737727	0.89[GIH][hapmap]
rs1996912	0.90[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap]
rs2140418	0.89[GIH][hapmap]
rs2177381	0.89[GIH][hapmap]
rs2273006	0.80[GIH][hapmap]
rs2293242	0.89[GIH][hapmap]
rs2820237	0.83[CEU][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap]
rs2985	0.80[GIH][hapmap]
rs3817473	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4646926	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4646949	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6912327	0.86[CEU][hapmap]
rs7753949	1.00[CEU][hapmap];0.80[CHB][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs847846	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs847850	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs847851	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs847852	0.86[JPT][hapmap]
rs847859	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]
rs9296139	0.82[GIH][hapmap]
rs9380469	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9394248	0.84[JPT][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	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2473615	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs2473615	UHRF1BP1	cis	parietal	SCAN
rs2473615	UHRF1BP1	cis	Esophagus Muscularis	GTEx
rs2473615	UHRF1BP1	cis	Muscle Skeletal	GTEx
rs2473615	UHRF1BP1	cis	Artery Tibial	GTEx
rs2473615	TAF11	cis	cerebellum	SCAN
rs2473615	C6orf89	cis	parietal	SCAN
rs2473615	TAF11	cis	parietal	SCAN
rs2473615	TAF11	cis	lymphoblastoid	seeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34872400-34907200	Weak transcription	Small Intestine	intestine
2	chr6:34874800-34896000	Weak transcription	Brain Anterior Caudate	brain
3	chr6:34877800-34921000	Weak transcription	Pancreas	Pancrea
4	chr6:34878000-34896400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:34879600-34896800	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:34881000-34898000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr6:34881200-34928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:34881400-34896600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr6:34881400-34902800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:34885200-34894400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:34885600-34894400	Weak transcription	Placenta	Placenta
12	chr6:34885800-34895400	Weak transcription	Gastric	stomach
13	chr6:34885800-34902200	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:34885800-34902400	Weak transcription	Fetal Stomach	stomach
15	chr6:34886400-34902400	Weak transcription	Aorta	Aorta
16	chr6:34886400-34902600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr6:34886400-34923400	Weak transcription	Primary T cells from cord blood	blood
18	chr6:34887000-34902800	Weak transcription	Lung	lung
19	chr6:34887400-34895400	Weak transcription	Ovary	ovary
20	chr6:34887400-34902400	Weak transcription	Psoas Muscle	Psoas
21	chr6:34887600-34894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:34887600-34894000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:34887600-34894400	Weak transcription	NHLF	lung
24	chr6:34887600-34902600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:34887800-34894000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:34887800-34894200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:34887800-34894400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:34887800-34895400	Weak transcription	Right Atrium	heart
29	chr6:34887800-34895800	Weak transcription	Fetal Heart	heart
30	chr6:34887800-34896000	Weak transcription	Spleen	Spleen
31	chr6:34888000-34894400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:34888000-34902200	Weak transcription	Adipose Nuclei	Adipose
33	chr6:34889600-34923400	Weak transcription	Primary B cells from cord blood	blood
34	chr6:34890400-34894000	Weak transcription	Right Ventricle	heart
35	chr6:34890400-34894000	Weak transcription	Osteobl	bone
36	chr6:34890400-34894200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:34890400-34894400	Weak transcription	NHDF-Ad	bronchial
38	chr6:34890800-34894200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:34891000-34894000	Weak transcription	HMEC	breast
40	chr6:34891000-34894000	Weak transcription	NHEK	skin
41	chr6:34891200-34894200	Weak transcription	NH-A	brain
42	chr6:34891200-34894400	Enhancers	Colon Smooth Muscle	Colon
43	chr6:34891400-34896800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:34891800-34895600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:34892400-34894400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:34892400-34894600	Enhancers	HepG2	liver
47	chr6:34892600-34895800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:34893000-34894200	Enhancers	Rectal Smooth Muscle	rectum
49	chr6:34893000-34894600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr6:34893000-34896800	Enhancers	Left Ventricle	heart

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