Variant report

Variant	rs59060630
Chromosome Location	chr12:119458494-119458495
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:119449958..119452455-chr12:119456708..119459020,2	K562	blood:
2	chr12:119458269..119459265-chr12:119850713..119851633,4	K562	blood:
3	chr12:119458483..119459134-chr12:119850426..119851166,2	MCF-7	breast:
4	chr12:118842874..118843382-chr12:119458257..119458788,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10775012	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849622	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10851063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11064650	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11064652	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11069219	0.89[AMR][1000 genomes]
rs11609417	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11612123	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11612183	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11612863	1.00[AFR][1000 genomes]
rs11613424	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11614635	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11615880	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12228320	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12228589	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12305005	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12305240	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28561855	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35126317	1.00[AFR][1000 genomes]
rs4767769	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4767772	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4767774	0.84[EUR][1000 genomes]
rs57961828	1.00[AFR][1000 genomes];0.84[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	nsv1046251	chr12:119353064-119467301	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv541615	chr12:119353064-119467301	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119451000-119460000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:119454800-119458600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr12:119455000-119459000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:119455000-119459000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:119455600-119459000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:119455800-119459000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:119456000-119458600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:119456400-119458600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:119456600-119459200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:119456800-119458600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:119457600-119458800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:119457800-119459000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:119458000-119458800	Enhancers	Fetal Brain Female	brain
14	chr12:119458200-119458800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr12:119458200-119459000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:119458400-119458600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:119458400-119458600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr12:119458400-119458600	Bivalent Enhancer	Left Ventricle	heart
19	chr12:119458400-119459000	Enhancers	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links