Variant report

Variant	rs12030856
Chromosome Location	chr1:210471463-210471464
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210467411..210469958-chr1:210471110..210473541,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1005174	0.86[AFR][1000 genomes]
rs10489383	0.86[AFR][1000 genomes]
rs10489385	0.86[AFR][1000 genomes]
rs10489386	0.86[AFR][1000 genomes]
rs10863819	0.86[AFR][1000 genomes]
rs10863820	0.86[AFR][1000 genomes]
rs10863822	0.86[AFR][1000 genomes]
rs10863825	0.86[AFR][1000 genomes]
rs11119458	0.86[AFR][1000 genomes]
rs11119462	0.86[AFR][1000 genomes]
rs11119473	0.86[AFR][1000 genomes]
rs11119475	0.86[AFR][1000 genomes]
rs11119485	0.86[AFR][1000 genomes]
rs12024862	0.86[AFR][1000 genomes]
rs12030512	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12034871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12040684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12046133	0.86[AFR][1000 genomes]
rs12049137	0.86[AFR][1000 genomes]
rs12062126	0.86[AFR][1000 genomes]
rs12074229	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087955	0.86[AFR][1000 genomes]
rs12120970	0.86[AFR][1000 genomes]
rs12134251	0.86[AFR][1000 genomes]
rs12138216	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12141780	0.86[AFR][1000 genomes]
rs12143463	0.86[AFR][1000 genomes]
rs1338289	0.86[AFR][1000 genomes]
rs1338290	0.99[EUR][1000 genomes]
rs17016002	0.86[AFR][1000 genomes]
rs1774107	0.83[AFR][1000 genomes]
rs2143591	0.86[AFR][1000 genomes]
rs2294843	0.86[AFR][1000 genomes]
rs2294851	0.86[AFR][1000 genomes]
rs3753230	0.86[AFR][1000 genomes]
rs3765865	0.86[AFR][1000 genomes]
rs3765866	0.86[AFR][1000 genomes]
rs3765877	0.86[AFR][1000 genomes]
rs3765878	0.86[AFR][1000 genomes]
rs3765886	0.86[AFR][1000 genomes]
rs4844520	0.86[AFR][1000 genomes]
rs4844989	0.87[EUR][1000 genomes]
rs4844996	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4844997	0.86[AFR][1000 genomes]
rs583148	0.97[EUR][1000 genomes]
rs58366398	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58469250	0.86[AFR][1000 genomes]
rs587203	0.97[EUR][1000 genomes]
rs588197	0.97[EUR][1000 genomes]
rs58960429	0.86[AFR][1000 genomes]
rs590380	0.97[EUR][1000 genomes]
rs60154123	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs608791	0.97[EUR][1000 genomes]
rs614167	0.83[AFR][1000 genomes]
rs628908	0.83[AFR][1000 genomes]
rs634601	0.83[AFR][1000 genomes]
rs650728	0.83[AFR][1000 genomes]
rs650854	0.97[EUR][1000 genomes]
rs652241	0.97[EUR][1000 genomes]
rs652256	0.97[EUR][1000 genomes]
rs664097	0.83[AFR][1000 genomes]
rs672819	0.83[AFR][1000 genomes]
rs689248	0.97[EUR][1000 genomes]
rs701941	0.83[AFR][1000 genomes]
rs701942	0.83[AFR][1000 genomes]
rs701943	0.83[AFR][1000 genomes]
rs701944	0.83[AFR][1000 genomes]
rs7525927	0.86[AFR][1000 genomes]
rs815358	0.83[AFR][1000 genomes]
rs845455	0.83[AFR][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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210466600-210474200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:210466800-210477400	Enhancers	Fetal Muscle Leg	muscle
3	chr1:210468200-210475000	Weak transcription	Ovary	ovary
4	chr1:210468600-210473600	Weak transcription	Lung	lung
5	chr1:210468600-210474200	Weak transcription	Brain Substantia Nigra	brain
6	chr1:210468800-210471600	Weak transcription	Left Ventricle	heart
7	chr1:210468800-210472400	Weak transcription	HMEC	breast
8	chr1:210468800-210473400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:210468800-210474200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:210468800-210474200	Weak transcription	Stomach Mucosa	stomach
11	chr1:210469000-210472600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:210469000-210474200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:210469000-210474400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:210469200-210471800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:210469200-210472000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:210469200-210472400	Weak transcription	Placenta	Placenta
17	chr1:210469200-210473000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:210469400-210472400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:210469400-210473000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:210469400-210475200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:210469600-210475000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:210470000-210474000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:210470200-210471800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:210470400-210473400	Weak transcription	Esophagus	oesophagus
25	chr1:210470800-210471800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:210471400-210471600	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links