Variant report

Variant	rs9394265
Chromosome Location	chr6:34950274-34950275
allele	G/T
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	chr6:34949770..34950538-chr6:35107405..35108299,2	K562	blood:
3	chr6:34893290..34895416-chr6:34950224..34952119,2	K562	blood:
4	chr6:34948492..34952297-chr6:34954153..34956386,4	K562	blood:
5	chr6:34943502..34945906-chr6:34947769..34950337,3	K562	blood:
6	chr6:34949753..34950779-chr6:35107305..35108332,7	MCF-7	breast:
7	chr6:34948492..34951112-chr6:34954153..34956114,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11970238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12173920	0.94[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.82[ASN][1000 genomes]
rs12175621	0.82[ASN][1000 genomes]
rs12176092	0.94[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.82[ASN][1000 genomes]
rs16894945	0.89[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap]
rs16894995	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs16895362	0.94[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.82[ASN][1000 genomes]
rs16895467	0.94[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs16896235	0.92[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs2273007	0.80[ASN][1000 genomes]
rs3734260	0.94[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap]
rs3734263	0.94[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap]
rs3756857	0.80[ASN][1000 genomes]
rs3798349	0.89[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap]
rs3800424	0.80[CEU][hapmap]
rs3800439	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3800442	0.93[ASN][1000 genomes]
rs3800447	0.94[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs3800449	0.94[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.84[ASN][1000 genomes]
rs3807051	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57608318	0.87[ASN][1000 genomes]
rs58764768	0.88[ASN][1000 genomes]
rs60815469	0.88[ASN][1000 genomes]
rs6906552	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73403805	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73421513	0.80[ASN][1000 genomes]
rs73421528	0.84[ASN][1000 genomes]
rs73421536	0.89[ASN][1000 genomes]
rs73421541	0.94[ASN][1000 genomes]
rs847849	0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.87[ASN][1000 genomes]
rs9348952	0.80[ASN][1000 genomes]
rs9348954	0.83[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs9348955	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9348956	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9348957	0.94[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs9357186	0.94[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.80[ASN][1000 genomes]
rs9357189	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9357191	0.94[ASN][1000 genomes]
rs9366871	0.80[ASN][1000 genomes]
rs9366873	0.82[ASN][1000 genomes]
rs9368840	0.82[ASN][1000 genomes]
rs9368842	0.94[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9368844	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9380471	1.00[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs9380472	0.84[ASN][1000 genomes]
rs9380475	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9380478	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9394253	0.80[ASN][1000 genomes]
rs9394257	0.94[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs9394258	0.82[ASN][1000 genomes]
rs9394259	0.83[CHB][hapmap]
rs9394261	0.94[ASN][1000 genomes]
rs9394262	0.94[ASN][1000 genomes]
rs9394264	0.98[ASN][1000 genomes]
rs9394267	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][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
rs9394265	UHRF1BP1	cis	Artery Tibial	GTEx
rs9394265	UHRF1BP1	cis	parietal	SCAN
rs9394265	UHRF1BP1	cis	Whole Blood	GTEx
rs9394265	TAF11	cis	cerebellum	SCAN

Chromatin state (count:122 , 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	chr6:34925600-34984800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:34926800-34992200	Weak transcription	Small Intestine	intestine
5	chr6:34927200-34952200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:34929400-34963400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:34929800-34953800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr6:34931600-34954800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:34932400-34981800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:34932800-34962400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:34933000-34952600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:34935200-34950400	Weak transcription	Right Ventricle	heart
13	chr6:34935200-34954800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:34935200-34958800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:34938400-34954800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr6:34938800-34952800	Weak transcription	Aorta	Aorta
17	chr6:34939000-34950400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:34939200-34950600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:34939400-34950400	Weak transcription	Fetal Kidney	kidney
20	chr6:34939400-34958600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr6:34939400-34978200	Weak transcription	Psoas Muscle	Psoas
22	chr6:34939400-35016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:34940200-34950400	Weak transcription	HMEC	breast
24	chr6:34941400-34952000	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:34944000-34954400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:34944600-34967200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr6:34945200-34962200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:34945200-34967200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr6:34947800-34967000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:34948200-34963600	Strong transcription	Fetal Intestine Large	intestine
31	chr6:34948400-34954400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:34948600-34954400	Strong transcription	Ovary	ovary
33	chr6:34948600-34954600	Strong transcription	Fetal Stomach	stomach
34	chr6:34948600-34967200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr6:34948800-34954200	Strong transcription	Fetal Intestine Small	intestine
36	chr6:34948800-34954400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:34948800-34955800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:34948800-34963600	Strong transcription	Primary T cells from cord blood	blood
39	chr6:34948800-34963600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr6:34948800-34964200	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:34949000-34951200	Genic enhancers	K562	blood
42	chr6:34949000-34951400	Strong transcription	NHEK	skin
43	chr6:34949000-34954200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:34949000-34954400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:34949000-34954400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:34949200-34950400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr6:34949200-34950400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:34949200-34950600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:34949200-34950600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:34949200-34951000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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