Variant report

Variant	rs12568393
Chromosome Location	chr1:67602139-67602140
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	chr1:67596003..67598773-chr1:67600680..67602340,2	K562	blood:
2	chr1:67595628..67598773-chr1:67600680..67602546,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12069782	0.98[ASN][1000 genomes]
rs12090164	0.98[ASN][1000 genomes]
rs12095536	0.98[ASN][1000 genomes]
rs12561798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12563505	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564219	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12566159	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17129680	1.00[CEU][hapmap]
rs17129700	1.00[CEU][hapmap]
rs2024825	0.81[ASN][1000 genomes]
rs34017352	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762318	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs6693659	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv461762	chr1:67551209-67648460	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv546446	chr1:67551209-67648460	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv870950	chr1:67575549-67627260	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67599600-67602800	Weak transcription	K562	blood
2	chr1:67600600-67603000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:67600800-67602200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:67600800-67602800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:67600800-67603000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:67600800-67606200	Enhancers	Fetal Intestine Large	intestine
7	chr1:67600800-67607400	Weak transcription	Colonic Mucosa	Colon
8	chr1:67601000-67602200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:67601000-67602800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:67601000-67602800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:67601000-67602800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:67601000-67604400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr1:67601000-67604600	Weak transcription	Liver	Liver
14	chr1:67601000-67606000	Enhancers	Fetal Intestine Small	intestine
15	chr1:67601000-67607400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:67601200-67602400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:67601200-67602800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:67601200-67602800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:67601200-67602800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:67601200-67602800	Weak transcription	Stomach Mucosa	stomach
21	chr1:67601200-67606800	Weak transcription	Primary T cells from cord blood	blood
22	chr1:67601400-67602800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:67601400-67602800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:67601400-67602800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:67601400-67603200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:67601400-67604000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:67601400-67604200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:67601600-67602800	Weak transcription	Hela-S3	cervix
29	chr1:67602000-67602600	Weak transcription	Fetal Lung	lung
30	chr1:67602000-67602800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:67602000-67603000	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links