Variant report

Variant	rs549652
Chromosome Location	chr6:33686103-33686104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33684071..33687779-chr6:33863332..33865982,3	MCF-7	breast:
2	chr6:33684529..33686540-chr6:33729478..33731636,2	MCF-7	breast:
3	chr6:33670443..33672859-chr6:33684999..33687830,2	K562	blood:
4	chr6:33680227..33683145-chr6:33684696..33687420,2	K562	blood:
5	chr6:33674250..33675922-chr6:33684521..33687700,3	K562	blood:
6	chr6:33683155..33686367-chr6:33732476..33736646,4	MCF-7	breast:
7	chr6:33676188..33679535-chr6:33684532..33687209,3	MCF-7	breast:
8	chr6:33684753..33687394-chr6:33728535..33731247,2	MCF-7	breast:
9	chr6:33680227..33683293-chr6:33684221..33688907,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137288	Chromatin interaction
ENSG00000249346	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10672	1.00[JPT][hapmap]
rs10947428	0.84[CEU][hapmap]
rs10947436	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs1536501	0.82[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs1998949	1.00[JPT][hapmap]
rs2182659	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs2395401	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs2395448	1.00[JPT][hapmap]
rs2967	0.83[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4711350	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs498114	0.90[GIH][hapmap];1.00[JPT][hapmap]
rs530614	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs597386	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs597723	0.83[ASN][1000 genomes]
rs602399	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs608971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs623813	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs652049	0.89[CEU][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap]
rs654682	1.00[JPT][hapmap]
rs658087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680608	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs684119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688209	0.84[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6913517	1.00[JPT][hapmap]
rs6915136	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs751727	1.00[JPT][hapmap]
rs764753	1.00[JPT][hapmap]
rs943463	1.00[JPT][hapmap]
rs943464	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs943472	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs9461905	1.00[JPT][hapmap]
rs9469542	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
2	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
3	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs549652	UHRF1BP1	cis	cerebellum	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33680000-33689400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:33680000-33690000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:33680000-33690200	Weak transcription	Psoas Muscle	Psoas
4	chr6:33680000-33693000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:33680000-33695200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:33680000-33695800	Weak transcription	Spleen	Spleen
7	chr6:33680000-33696200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:33680000-33698400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:33680000-33705000	Weak transcription	Brain Angular Gyrus	brain
10	chr6:33681800-33689200	Enhancers	Pancreas	Pancrea
11	chr6:33682600-33686200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:33683000-33686600	Enhancers	Stomach Mucosa	stomach
13	chr6:33683200-33686200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:33684000-33686200	Enhancers	Liver	Liver
15	chr6:33684000-33686200	Enhancers	NHEK	skin
16	chr6:33684000-33686600	Enhancers	Left Ventricle	heart
17	chr6:33684000-33687000	Enhancers	HMEC	breast
18	chr6:33684200-33687400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:33684200-33688200	Enhancers	Fetal Lung	lung
20	chr6:33684400-33688000	Weak transcription	Gastric	stomach
21	chr6:33684600-33688200	Enhancers	Fetal Brain Male	brain
22	chr6:33684600-33688600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:33684800-33686400	Enhancers	Colon Smooth Muscle	Colon
24	chr6:33684800-33686600	Enhancers	Rectal Smooth Muscle	rectum
25	chr6:33685000-33686400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:33685000-33686400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:33685000-33686600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr6:33685000-33686600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:33685000-33686600	Enhancers	Fetal Stomach	stomach
30	chr6:33685000-33686600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:33685000-33686800	Enhancers	Fetal Muscle Leg	muscle
32	chr6:33685000-33687400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr6:33685200-33686200	Weak transcription	Esophagus	oesophagus
34	chr6:33685200-33686400	Enhancers	Brain Hippocampus Middle	brain
35	chr6:33685200-33686600	Enhancers	Fetal Muscle Trunk	muscle
36	chr6:33685200-33688000	Weak transcription	GM12878-XiMat	blood
37	chr6:33685200-33693400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:33685600-33686200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr6:33685600-33686200	Enhancers	Adipose Nuclei	Adipose
40	chr6:33685600-33686200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr6:33685600-33686200	Enhancers	Ovary	ovary
42	chr6:33685600-33686400	Enhancers	Brain Cingulate Gyrus	brain
43	chr6:33685600-33686400	Enhancers	Placenta	Placenta
44	chr6:33685600-33686600	Enhancers	Brain Germinal Matrix	brain
45	chr6:33685800-33686400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr6:33685800-33686600	Enhancers	Right Atrium	heart
47	chr6:33685800-33687000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:33685800-33687000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:33686000-33686400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:33686000-33686600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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