Variant report

Variant	rs12030111
Chromosome Location	chr1:168800066-168800067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168795902..168797646-chr1:168799852..168802336,3	K562	blood:
2	chr1:168764194..168766582-chr1:168798896..168801422,2	K562	blood:
3	chr1:168798738..168800439-chr1:168814103..168816645,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10800385	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10800387	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10800388	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10918999	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12035896	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12047566	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17102	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs200558	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs200565	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs200571	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2092312	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2206295	0.91[EUR][1000 genomes]
rs2206296	0.91[EUR][1000 genomes]
rs2419382	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6670747	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6671448	0.81[ASN][1000 genomes]
rs6679675	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6679995	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6683811	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6695006	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6704039	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6704296	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv464250	chr1:168772393-168826032	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv548145	chr1:168772393-168826032	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168793800-168803200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:168794000-168801600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:168794000-168802800	Weak transcription	Gastric	stomach
4	chr1:168795600-168801600	Weak transcription	Fetal Stomach	stomach
5	chr1:168798200-168802600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:168798200-168802800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:168798800-168800200	Enhancers	Fetal Heart	heart
8	chr1:168798800-168800800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:168799000-168802800	Enhancers	HepG2	liver
10	chr1:168799200-168804000	Enhancers	Fetal Intestine Small	intestine
11	chr1:168799200-168804000	Enhancers	Stomach Mucosa	stomach
12	chr1:168799400-168801200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:168799600-168800200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr1:168799800-168800400	Enhancers	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links