Variant report

Variant	rs9380469
Chromosome Location	chr6:34877314-34877315
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34869119..34871903-chr6:34874576..34877464,3	K562	blood:
2	chr6:34869344..34871506-chr6:34874560..34877375,2	MCF-7	breast:
3	chr6:34392549..34394826-chr6:34874788..34877623,2	MCF-7	breast:
4	chr6:34854042..34857854-chr6:34876810..34882352,6	K562	blood:
5	chr6:34875439..34878531-chr6:34883509..34886060,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064999	Chromatin interaction
ENSG00000064995	Chromatin interaction
ENSG00000124614	Chromatin interaction
ENSG00000270800	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10947536	0.82[CEU][hapmap]
rs11969436	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12212217	0.82[CEU][hapmap]
rs1535001	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1737727	0.82[CEU][hapmap]
rs1996912	0.90[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap]
rs2140418	0.82[CEU][hapmap]
rs2177381	0.82[CEU][hapmap]
rs2293242	0.82[CEU][hapmap]
rs2473615	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]
rs2820232	0.80[JPT][hapmap]
rs2820237	0.83[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap]
rs3817473	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3823438	0.80[JPT][hapmap]
rs4646926	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4646949	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6912327	0.86[CEU][hapmap]
rs6932857	0.82[CEU][hapmap]
rs7753949	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs847846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs847850	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs847851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs847852	0.90[JPT][hapmap]
rs847859	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9394248	0.89[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	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
5	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv870010	chr6:34713359-34880048	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1025374	chr6:34723723-34887316	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv462905	chr6:34728253-34886436	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv602906	chr6:34728253-34886436	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv1015792	chr6:34741917-34887316	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv1021733	chr6:34751052-34887316	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9380469	UHRF1BP1	cis	Artery Tibial	GTEx
rs9380469	C6orf107	Cis_1M	lymphoblastoid	RTeQTL
rs9380469	UHRF1BP1	cis	Esophagus Muscularis	GTEx
rs9380469	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs9380469	UHRF1BP1	cis	Muscle Skeletal	GTEx

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34858000-34877600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:34858400-34877400	Weak transcription	Aorta	Aorta
3	chr6:34858600-34879200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:34858800-34880200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:34859000-34879600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr6:34859200-34879000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:34859200-34882400	Weak transcription	Fetal Stomach	stomach
8	chr6:34859200-34884600	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:34859200-34884800	Weak transcription	Right Ventricle	heart
10	chr6:34859200-34890800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:34859400-34879400	Weak transcription	Primary T cells from cord blood	blood
12	chr6:34859400-34880200	Weak transcription	Primary B cells from cord blood	blood
13	chr6:34860200-34879600	Weak transcription	Psoas Muscle	Psoas
14	chr6:34861000-34880000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:34861200-34880000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:34861600-34886000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:34863200-34879200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:34863400-34877600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:34869000-34879000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:34869400-34878800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:34869600-34890000	Weak transcription	Hela-S3	cervix
22	chr6:34869800-34879200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:34870200-34877600	Weak transcription	Lung	lung
24	chr6:34870600-34877600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:34871800-34886000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:34872400-34907200	Weak transcription	Small Intestine	intestine
27	chr6:34872800-34880200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr6:34873200-34878600	Weak transcription	HepG2	liver
29	chr6:34873200-34885400	Weak transcription	Spleen	Spleen
30	chr6:34874000-34877600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:34874000-34880400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr6:34874200-34879200	Weak transcription	Adipose Nuclei	Adipose
33	chr6:34874200-34879200	Weak transcription	Ovary	ovary
34	chr6:34874200-34879600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:34874200-34882400	Weak transcription	Colon Smooth Muscle	Colon
36	chr6:34874400-34878600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:34874400-34893200	Weak transcription	Fetal Intestine Large	intestine
38	chr6:34874600-34879000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:34874800-34896000	Weak transcription	Brain Anterior Caudate	brain
40	chr6:34875400-34877800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:34875600-34885800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr6:34875800-34877800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:34875800-34877800	Enhancers	Right Atrium	heart
44	chr6:34875800-34878400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:34876000-34878000	Enhancers	Fetal Heart	heart
46	chr6:34876000-34880200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr6:34876200-34885400	Weak transcription	Gastric	stomach
48	chr6:34876400-34879600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:34876600-34879000	Weak transcription	Fetal Intestine Small	intestine
50	chr6:34876600-34880400	Weak transcription	Duodenum Mucosa	Duodenum

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