Variant report

Variant	rs12072636
Chromosome Location	chr1:165688481-165688482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165687876..165689763-chr1:165694105..165696675,2	K562	blood:

Extended variants
information (count: 29 )
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];1.00[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];0.89[ASN][1000 genomes]
rs10918282	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];1.00[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];1.00[ASN][1000 genomes]
rs12064466	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12074976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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];0.94[ASN][1000 genomes]
rs12077875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12079073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];1.00[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]
rs12090132	1.00[EUR][1000 genomes]
rs12094467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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];0.94[ASN][1000 genomes]
rs9970857	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165685200-165695400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:165685200-165696600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:165685200-165721600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:165685600-165705200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:165687000-165695200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:165687600-165694400	Weak transcription	Liver	Liver
7	chr1:165687600-165694400	Weak transcription	Placenta	Placenta
8	chr1:165687600-165694600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:165687600-165694800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:165687600-165694800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:165687600-165694800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:165687600-165695000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:165687600-165695200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:165687600-165695200	Weak transcription	NHDF-Ad	bronchial
15	chr1:165687600-165695400	Weak transcription	Osteobl	bone
16	chr1:165687600-165695600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:165687600-165695600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:165687600-165695600	Weak transcription	Fetal Thymus	thymus
19	chr1:165687600-165695800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:165687600-165696200	Weak transcription	NHLF	lung
21	chr1:165687600-165696800	Weak transcription	GM12878-XiMat	blood
22	chr1:165687600-165705000	Weak transcription	Thymus	Thymus
23	chr1:165687600-165706000	Weak transcription	HepG2	liver
24	chr1:165687600-165709800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:165687600-165709800	Weak transcription	HUVEC	blood vessel
26	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:165687800-165695200	Weak transcription	Dnd41	blood
28	chr1:165687800-165695600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:165687800-165695800	Weak transcription	K562	blood
30	chr1:165687800-165696200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:165687800-165707000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:165687800-165709800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:165688000-165695000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:165688200-165689200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:165688400-165695200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links