Variant report

Variant	rs2160244
Chromosome Location	chr12:68316011-68316012
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	chr12:68302716..68305733-chr12:68312803..68316283,4	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10878695	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10878696	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10878697	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176936	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11176937	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1351768	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1905453	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041769	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2160243	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2192784	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs2192785	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2216012	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2904502	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2908764	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930120	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3015000	0.81[AMR][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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1047675	chr12:68303674-68337325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68307600-68318800	Weak transcription	Fetal Heart	heart
2	chr12:68310000-68317600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:68310400-68319000	Weak transcription	Left Ventricle	heart
4	chr12:68310600-68317000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:68310600-68317400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:68310600-68318200	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:68310600-68329800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:68312000-68317000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:68312400-68316200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:68313200-68316200	Enhancers	Fetal Intestine Large	intestine
11	chr12:68313200-68316200	Enhancers	Fetal Intestine Small	intestine
12	chr12:68314000-68316400	Weak transcription	Fetal Kidney	kidney
13	chr12:68314000-68321200	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:68314200-68319200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:68314400-68316200	Enhancers	HMEC	breast
16	chr12:68314800-68320400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:68315000-68316200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:68315000-68319000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:68315200-68316200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:68315200-68316200	Enhancers	NHEK	skin
21	chr12:68315200-68316400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:68315200-68317000	Weak transcription	Pancreas	Pancrea
23	chr12:68315200-68319000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:68315200-68319600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:68315200-68319800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:68315200-68320000	Weak transcription	Gastric	stomach
27	chr12:68315200-68321400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:68315400-68316400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:68315400-68317800	Weak transcription	Stomach Mucosa	stomach
30	chr12:68315600-68316800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:68315800-68317200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:68315800-68318200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:68315800-68321400	Weak transcription	HSMMtube	muscle
34	chr12:68316000-68317400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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