Variant report

Variant	rs16847971
Chromosome Location	chr2:142795196-142795197
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	chr2:142703652..142704157-chr2:142795131..142795850,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10164457	0.81[CEU][hapmap]
rs10179879	1.00[CEU][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10181071	0.80[ASN][1000 genomes]
rs10201177	0.90[CEU][hapmap]
rs10201480	0.91[CEU][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11677303	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11888082	0.81[CEU][hapmap]
rs12691633	1.00[CEU][hapmap]
rs12994651	1.00[CEU][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13012748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13016007	1.00[JPT][hapmap]
rs13382235	0.85[CEU][hapmap]
rs13385180	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13392919	0.90[CEU][hapmap]
rs13398962	0.80[ASN][1000 genomes]
rs13400121	0.91[CEU][hapmap];0.80[ASN][1000 genomes]
rs13401617	0.80[ASN][1000 genomes]
rs13405280	1.00[CEU][hapmap];0.80[ASN][1000 genomes]
rs13408764	0.80[ASN][1000 genomes]
rs13412878	0.81[CEU][hapmap]
rs13418304	1.00[CEU][hapmap]
rs13420312	1.00[CEU][hapmap]
rs1349224	0.81[CEU][hapmap]
rs1375607	0.80[ASN][1000 genomes]
rs1449491	0.91[CEU][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1449502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562705	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17832157	0.90[CEU][hapmap]
rs1982384	1.00[CEU][hapmap]
rs34199884	0.80[ASN][1000 genomes]
rs34725547	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35975765	0.80[ASN][1000 genomes]
rs4267463	0.80[ASN][1000 genomes]
rs62155635	0.80[ASN][1000 genomes]
rs6721602	0.81[CEU][hapmap]
rs6749591	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7574284	1.00[CEU][hapmap]
rs895935	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9630925	1.00[CEU][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]

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	nsv530398	chr2:142474842-142843839	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv997274	chr2:142760393-143599193	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv526107	chr2:142768518-142884248	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 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	chr2:142792000-142795800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:142793600-142795600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:142794200-142796200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:142794400-142795400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:142794400-142795600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:142794400-142795600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:142794400-142795800	Enhancers	NHEK	skin
8	chr2:142794400-142796200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:142794400-142796200	Enhancers	Brain Anterior Caudate	brain
10	chr2:142794400-142796600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:142794400-142797400	Enhancers	HMEC	breast
12	chr2:142794400-142802400	Enhancers	NH-A	brain
13	chr2:142794600-142795200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:142794600-142795200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:142794600-142795200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:142794600-142795400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:142794600-142795400	Enhancers	Brain Hippocampus Middle	brain
18	chr2:142794600-142795600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:142794600-142795800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:142794600-142796200	Enhancers	Brain Substantia Nigra	brain
21	chr2:142794600-142796800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:142794800-142795400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:142795000-142795200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:142795000-142795400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:142795000-142798400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:142795000-142798800	Weak transcription	Brain Angular Gyrus	brain

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