Variant report

Variant	rs12693195
Chromosome Location	chr2:180441505-180441506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180441137..180442663-chr2:180445038..180447990,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10048645	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10189196	0.87[EUR][1000 genomes]
rs10189808	0.81[EUR][1000 genomes]
rs11674582	1.00[CEU][hapmap]
rs11683510	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695089	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693196	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12986652	1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12991282	0.81[EUR][1000 genomes]
rs12991713	1.00[CEU][hapmap]
rs13000199	1.00[CEU][hapmap]
rs13001067	0.81[EUR][1000 genomes]
rs13014868	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026689	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs13028216	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13029050	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1515304	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515305	1.00[JPT][hapmap]
rs1515312	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515313	0.81[EUR][1000 genomes]
rs1515314	0.81[EUR][1000 genomes]
rs1606813	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866810	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs16866819	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16866823	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16866832	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16866834	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16866857	1.00[CEU][hapmap]
rs2176061	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2222031	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2887110	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs34313722	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34376589	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34545498	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35439427	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35664499	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62176093	1.00[ASN][1000 genomes]
rs6721295	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71425640	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73973307	0.90[EUR][1000 genomes]
rs7581924	1.00[CEU][hapmap]
rs7592221	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7593595	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7601398	1.00[CEU][hapmap]
rs7604253	1.00[JPT][hapmap]
rs9288040	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951427	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs969231	0.81[EUR][1000 genomes]
rs988289	0.81[EUR][1000 genomes]
rs988290	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521639	chr2:180439541-180443444	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180433000-180445600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:180435200-180461000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:180435400-180446400	Weak transcription	Fetal Kidney	kidney
4	chr2:180437600-180445200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:180439400-180443200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:180439400-180445000	Weak transcription	Stomach Mucosa	stomach
7	chr2:180439600-180443000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:180439800-180443000	Weak transcription	Fetal Intestine Large	intestine
9	chr2:180439800-180445200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:180439800-180445200	Weak transcription	Fetal Lung	lung
11	chr2:180439800-180446400	Enhancers	Liver	Liver
12	chr2:180441000-180442400	Weak transcription	HepG2	liver
13	chr2:180441200-180445200	Weak transcription	Pancreas	Pancrea

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