Variant report

Variant	rs12473872
Chromosome Location	chr2:189316530-189316531
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	chr2:189314011..189316872-chr2:189317006..189319445,2	K562	blood:

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

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

rs_ID	r²[population]
rs10804020	0.85[CHB][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap]
rs10931356	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10931359	0.95[CHB][hapmap];0.88[JPT][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12465164	0.91[CHB][hapmap];0.83[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12465625	0.91[CHB][hapmap];0.88[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12473653	0.90[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs12474692	1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12624002	1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13008931	0.82[JPT][hapmap]
rs4564741	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4667221	0.85[ASN][1000 genomes]
rs4667227	0.81[CHB][hapmap]
rs59106803	0.80[AFR][1000 genomes]
rs62183212	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs62183213	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs66732509	0.83[ASN][1000 genomes]
rs6704814	0.81[CHB][hapmap]
rs6724428	0.82[CEU][hapmap];0.85[YRI][hapmap]
rs6724867	0.85[ASN][1000 genomes]
rs7566619	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap]
rs7574262	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7586390	0.85[CHB][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap]
rs7593546	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr2:189285600-189318800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:189285800-189318200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:189304400-189316600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:189305800-189318400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:189306400-189317200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:189306600-189339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:189307400-189322400	Weak transcription	A549	lung
8	chr2:189308200-189318400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:189308400-189317000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:189308400-189317400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:189309600-189317200	Weak transcription	HUVEC	blood vessel
12	chr2:189311200-189318200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:189311600-189317000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:189312600-189318600	Weak transcription	Fetal Intestine Small	intestine
15	chr2:189314200-189318600	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:189314600-189323400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:189315400-189316600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:189315400-189318400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:189315600-189317200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:189315600-189317200	Enhancers	NHLF	lung
21	chr2:189315800-189317600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:189315800-189320200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:189316000-189317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:189316000-189317200	Weak transcription	Ovary	ovary
25	chr2:189316000-189324800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:189316200-189316800	Weak transcription	Fetal Lung	lung

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