Variant report

Variant	rs8077375
Chromosome Location	chr17:45336152-45336153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45334238..45336850-chr17:45399681..45401766,2	K562	blood:

Variant related genes	Relation type
ENSG00000178852	Chromatin interaction
ENSG00000263293	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11656693	0.84[AFR][1000 genomes]
rs11868912	0.90[ASN][1000 genomes]
rs12051795	1.00[JPT][hapmap]
rs13306485	0.90[ASN][1000 genomes]
rs16941751	0.82[CHB][hapmap]
rs16941771	0.82[CHB][hapmap]
rs1878067	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2292700	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs34491511	0.85[AFR][1000 genomes]
rs4470207	0.82[AFR][1000 genomes]
rs4525555	0.92[ASW][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs4598971	0.83[AFR][1000 genomes]
rs4629024	0.92[ASW][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs5918	0.85[CEU][hapmap];0.82[TSI][hapmap]
rs5919	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs62074395	0.84[EUR][1000 genomes]
rs62074396	0.84[EUR][1000 genomes]
rs7214096	0.85[CEU][hapmap];0.82[TSI][hapmap]
rs8064871	0.92[ASN][1000 genomes]
rs8069732	0.85[CEU][hapmap];0.82[TSI][hapmap]
rs8073179	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8073229	0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs8077238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45333200-45344600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr17:45333600-45336400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:45334000-45345800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr17:45334200-45336200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:45334400-45336200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr17:45334400-45336200	Enhancers	Colon Smooth Muscle	Colon
7	chr17:45334800-45336200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr17:45335200-45336400	Enhancers	NH-A	brain
9	chr17:45335400-45336200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:45335600-45336400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:45335600-45340000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr17:45335600-45340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:45335600-45343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr17:45335800-45336200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:45335800-45336200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:45335800-45336200	Enhancers	Hela-S3	cervix
17	chr17:45335800-45336200	Enhancers	HSMM	muscle
18	chr17:45335800-45336200	Enhancers	HUVEC	blood vessel
19	chr17:45335800-45336400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:45335800-45336400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:45335800-45336400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr17:45335800-45336400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr17:45335800-45336400	Enhancers	K562	blood
24	chr17:45335800-45336400	Enhancers	NHDF-Ad	bronchial
25	chr17:45335800-45336400	Enhancers	Osteobl	bone
26	chr17:45335800-45339600	Weak transcription	Fetal Stomach	stomach
27	chr17:45335800-45339600	Weak transcription	GM12878-XiMat	blood
28	chr17:45335800-45340000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr17:45335800-45340000	Weak transcription	Adipose Nuclei	Adipose
30	chr17:45335800-45340000	Weak transcription	Left Ventricle	heart
31	chr17:45335800-45340200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr17:45335800-45341200	Weak transcription	HSMMtube	muscle
33	chr17:45335800-45342600	Weak transcription	NHLF	lung
34	chr17:45335800-45343200	Weak transcription	Right Atrium	heart
35	chr17:45335800-45343600	Weak transcription	Aorta	Aorta
36	chr17:45336000-45336200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:45336000-45336400	Enhancers	Spleen	Spleen
38	chr17:45336000-45346800	Weak transcription	Fetal Heart	heart

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