Variant report

Variant	rs10843975
Chromosome Location	chr12:31782297-31782298
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31776560..31779005-chr12:31780696..31784088,3	K562	blood:
2	chr12:31477438..31479159-chr12:31779343..31782901,3	K562	blood:

Variant related genes	Relation type
ENSG00000139146	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10771860	0.81[ASN][1000 genomes]
rs10843976	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10843980	0.88[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs10843981	0.80[ASN][1000 genomes]
rs10843984	0.80[ASN][1000 genomes]
rs11051491	0.90[ASN][1000 genomes]
rs11051496	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11051505	0.94[CHB][hapmap]
rs11051507	0.94[CHB][hapmap]
rs11051508	0.94[CHB][hapmap]
rs12366487	0.80[ASN][1000 genomes]
rs12368226	0.81[ASN][1000 genomes]
rs12370374	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12813290	0.94[CHB][hapmap]
rs2374165	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs2374168	0.81[ASN][1000 genomes]
rs2374170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2447707	0.84[JPT][hapmap]
rs2679486	0.84[JPT][hapmap]
rs2888753	0.94[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2888754	0.81[ASN][1000 genomes]
rs34312039	0.80[ASN][1000 genomes]
rs3844104	0.81[ASN][1000 genomes]
rs3850970	0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3850971	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3908176	0.82[ASN][1000 genomes]
rs3908177	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4600301	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4931533	0.94[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs560239	0.84[JPT][hapmap]
rs57741885	0.81[ASN][1000 genomes]
rs6487998	0.94[CHB][hapmap]
rs7959945	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7962168	0.94[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs7974004	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7974863	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31773600-31782600	Weak transcription	A549	lung
2	chr12:31775600-31782400	Weak transcription	HSMMtube	muscle
3	chr12:31779800-31782400	Weak transcription	K562	blood
4	chr12:31781000-31782400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:31781000-31782400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:31781000-31782400	Weak transcription	Adipose Nuclei	Adipose
7	chr12:31781000-31782400	Weak transcription	Left Ventricle	heart
8	chr12:31781000-31782600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:31781200-31782400	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:31781200-31782400	Weak transcription	Right Ventricle	heart
11	chr12:31781400-31783000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:31781600-31782400	Weak transcription	Ovary	ovary
13	chr12:31782200-31782400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:31782200-31782400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:31782200-31782400	Enhancers	Stomach Smooth Muscle	stomach
16	chr12:31782200-31782600	Enhancers	Fetal Heart	heart
17	chr12:31782200-31783000	Enhancers	Fetal Kidney	kidney
18	chr12:31782200-31783400	Enhancers	Fetal Intestine Small	intestine
19	chr12:31782200-31783400	Enhancers	Fetal Lung	lung
20	chr12:31782200-31783400	Enhancers	HepG2	liver
21	chr12:31782200-31783600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:31782200-31784600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links