Variant report

Variant	rs10918282
Chromosome Location	chr1:165734354-165734355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165732937..165734507-chr1:167189047..167191428,2	MCF-7	breast:
2	chr1:165733730..165736417-chr1:165798667..165800425,2	K562	blood:
3	chr1:165730442..165735280-chr1:165736024..165740207,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272205	Chromatin interaction
ENSG00000143190	Chromatin interaction
ENSG00000143183	Chromatin interaction
ENSG00000224358	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10800161	1.00[AFR][1000 genomes]
rs10918267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10918280	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10918286	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10918288	1.00[AFR][1000 genomes]
rs12060158	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12061566	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12062594	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12064187	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12064466	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12072636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12074976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12075644	1.00[CHB][hapmap]
rs12076579	1.00[EUR][1000 genomes]
rs12077778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12077875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12079073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12080238	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12082722	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12090132	1.00[EUR][1000 genomes]
rs12094467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354157	1.00[EUR][1000 genomes]
rs12401468	0.83[AMR][1000 genomes]
rs12566281	1.00[AFR][1000 genomes]
rs28735603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9970857	1.00[EUR][1000 genomes]

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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv518886	chr1:165714187-165741646	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:165694600-165736800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:165711200-165736200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:165712200-165737000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:165712600-165737000	Weak transcription	Colonic Mucosa	Colon
6	chr1:165713600-165737000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:165721800-165734800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:165721800-165734800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:165721800-165734800	Weak transcription	Esophagus	oesophagus
10	chr1:165721800-165735200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:165721800-165736600	Weak transcription	Stomach Mucosa	stomach
12	chr1:165721800-165737000	Weak transcription	Fetal Brain Male	brain
13	chr1:165721800-165737000	Weak transcription	Fetal Heart	heart
14	chr1:165721800-165737000	Weak transcription	Right Atrium	heart
15	chr1:165721800-165737200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:165721800-165737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:165722400-165735000	Weak transcription	HSMMtube	muscle
18	chr1:165722600-165736800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:165722800-165734800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:165723000-165736800	Weak transcription	Spleen	Spleen
21	chr1:165723200-165736800	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:165723400-165734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:165723600-165735600	Weak transcription	Brain Germinal Matrix	brain
24	chr1:165726400-165736800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:165726800-165736800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:165726800-165737000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:165727000-165736800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:165727600-165735000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:165727600-165735000	Weak transcription	Aorta	Aorta
30	chr1:165727800-165735400	Weak transcription	Right Ventricle	heart
31	chr1:165727800-165737000	Weak transcription	Psoas Muscle	Psoas
32	chr1:165727800-165737600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:165729200-165737200	Weak transcription	Brain Substantia Nigra	brain
34	chr1:165730200-165736800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:165730200-165736800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:165730200-165736800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:165730400-165736600	Strong transcription	HSMM	muscle
38	chr1:165730400-165736800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:165730400-165736800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:165730600-165736600	Strong transcription	Hela-S3	cervix
41	chr1:165731200-165734400	Weak transcription	Fetal Stomach	stomach
42	chr1:165731200-165734600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:165731200-165734600	Weak transcription	Fetal Intestine Small	intestine
44	chr1:165731200-165734600	Weak transcription	Lung	lung
45	chr1:165731200-165734800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:165731200-165736800	Weak transcription	Gastric	stomach
47	chr1:165731400-165735000	Weak transcription	Fetal Intestine Large	intestine
48	chr1:165732200-165735200	Genic enhancers	Dnd41	blood
49	chr1:165732200-165736600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
50	chr1:165732200-165736800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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