Variant report

Variant	rs12064448
Chromosome Location	chr1:185962260-185962261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185957575..185959558-chr1:185961621..185963352,2	MCF-7	breast:
2	chr1:185961557..185964345-chr1:185967553..185969394,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10911793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10911794	1.00[ASW][hapmap];0.92[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11803598	1.00[ASW][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12072585	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12074224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12078892	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12079734	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12082926	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12087462	0.85[MKK][hapmap]
rs12087581	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12091512	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs12094904	0.84[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824824	0.84[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824842	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824847	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60693297	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61417049	1.00[AFR][1000 genomes]
rs74134265	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs74134268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134275	0.97[AFR][1000 genomes]
rs74134279	0.92[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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185934400-185974000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:185934600-185969000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:185936600-185999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:185937000-185964000	Weak transcription	Aorta	Aorta
5	chr1:185938800-185990200	Weak transcription	Liver	Liver
6	chr1:185938800-185994600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:185939000-185986000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:185939200-186023000	Weak transcription	Adipose Nuclei	Adipose
9	chr1:185954000-185965200	Weak transcription	NHDF-Ad	bronchial
10	chr1:185954400-185964800	Weak transcription	Fetal Kidney	kidney
11	chr1:185954600-185965400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:185957800-185963200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:185958000-185963000	Weak transcription	Primary T cells from cord blood	blood
14	chr1:185958800-185964000	Weak transcription	Left Ventricle	heart
15	chr1:185958800-185964000	Weak transcription	Lung	lung
16	chr1:185958800-185964000	Weak transcription	Psoas Muscle	Psoas
17	chr1:185959000-185979200	Weak transcription	Esophagus	oesophagus
18	chr1:185959600-185967000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:185960200-185964800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:185960200-185965200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:185960200-185967400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:185960200-185999000	Weak transcription	Fetal Lung	lung
23	chr1:185960400-185968600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:185960600-185977600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:185961000-185962600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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