Variant report

Variant	rs2700513
Chromosome Location	chr12:104401386-104401387
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11111861	1.00[ASN][1000 genomes]
rs1125322	1.00[ASN][1000 genomes]
rs11611650	1.00[ASN][1000 genomes]
rs1165672	1.00[ASN][1000 genomes]
rs12825687	1.00[ASN][1000 genomes]
rs1385663	0.93[CEU][hapmap];0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs167715	1.00[CEU][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs167716	1.00[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882018	1.00[ASN][1000 genomes]
rs2204802	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2243680	1.00[ASN][1000 genomes]
rs2248995	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251215	1.00[ASN][1000 genomes]
rs2252213	1.00[ASN][1000 genomes]
rs2374327	1.00[ASN][1000 genomes]
rs2439621	1.00[ASN][1000 genomes]
rs2576943	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583224	1.00[ASN][1000 genomes]
rs2583225	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs2583233	1.00[ASN][1000 genomes]
rs2583234	1.00[ASN][1000 genomes]
rs2583237	1.00[ASN][1000 genomes]
rs2583244	1.00[ASN][1000 genomes]
rs2583258	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs2583274	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583278	1.00[ASN][1000 genomes]
rs2629750	1.00[CEU][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700494	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700507	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700517	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722177	1.00[ASN][1000 genomes]
rs2722180	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722194	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723849	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723850	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723853	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs2723877	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs322104	1.00[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322109	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35140616	1.00[ASN][1000 genomes]
rs4135039	1.00[ASN][1000 genomes]
rs4135040	1.00[ASN][1000 genomes]
rs4135047	1.00[ASN][1000 genomes]
rs4135048	1.00[ASN][1000 genomes]
rs4135050	1.00[ASN][1000 genomes]
rs4135061	1.00[ASN][1000 genomes]
rs4135062	1.00[ASN][1000 genomes]
rs4135066	1.00[ASN][1000 genomes]
rs784080	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs784084	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931306	1.00[ASN][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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104385600-104404000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:104387200-104404600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:104391200-104406200	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:104391600-104406400	Weak transcription	Ovary	ovary
5	chr12:104393000-104407400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:104397200-104401600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:104397200-104406200	Weak transcription	Aorta	Aorta
8	chr12:104400200-104401400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:104400200-104401400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:104400200-104401400	Enhancers	Fetal Stomach	stomach
11	chr12:104400200-104401400	Enhancers	Hela-S3	cervix
12	chr12:104400200-104401400	Enhancers	HMEC	breast
13	chr12:104400200-104401400	Enhancers	HSMM	muscle
14	chr12:104400200-104401400	Enhancers	NH-A	brain
15	chr12:104400200-104401400	Enhancers	NHEK	skin
16	chr12:104400200-104401400	Enhancers	Osteobl	bone
17	chr12:104400200-104401600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:104400200-104401600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:104400200-104401600	Enhancers	NHDF-Ad	bronchial
20	chr12:104400400-104401400	Enhancers	A549	lung
21	chr12:104400400-104406200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:104400800-104404000	Weak transcription	HSMMtube	muscle
23	chr12:104401000-104404200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:104401200-104401400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:104401200-104402200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:104401200-104403800	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:104401200-104404000	Weak transcription	NHLF	lung
28	chr12:104401200-104404400	Weak transcription	HUVEC	blood vessel
29	chr12:104401200-104404600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:104401200-104404600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:104401200-104404800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:104401200-104404800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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