Variant report

Variant	rs7138997
Chromosome Location	chr12:46134475-46134476
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	chr12:46133696..46135700-chr12:46197163..46198738,2	MCF-7	breast:
2	chr12:46134325..46137231-chr12:46148233..46149975,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10748432	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10880855	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10880859	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10880860	0.87[EUR][1000 genomes]
rs11183184	0.88[ASW][hapmap];0.83[CHD][hapmap];0.83[MEX][hapmap];1.00[YRI][hapmap]
rs11183201	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12314770	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap]
rs12319077	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12320533	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1366024	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1468993	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1863127	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2059404	0.95[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.87[EUR][1000 genomes]
rs2193749	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2216470	0.81[CHD][hapmap];0.85[JPT][hapmap]
rs2408435	0.96[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs247918	0.86[CEU][hapmap];0.88[CHB][hapmap]
rs247919	0.84[AFR][1000 genomes]
rs247920	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs247929	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs247930	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35115	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35117	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35121	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs35122	0.92[CEU][hapmap];0.80[JPT][hapmap]
rs35125	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs6582574	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67133230	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7132422	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs724909	0.92[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap]
rs7315731	0.92[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs7955891	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7976870	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7979218	1.00[YRI][hapmap]

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	nsv899052	chr12:46068394-46175469	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
2	nsv899053	chr12:46100053-46141372	Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46124600-46135000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:46125000-46161200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:46125200-46135000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:46125200-46140000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:46125200-46146400	Weak transcription	Left Ventricle	heart
6	chr12:46125200-46156000	Weak transcription	Small Intestine	intestine
7	chr12:46125400-46137600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:46125400-46142400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:46125400-46152200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:46126200-46135600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:46126400-46142000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:46126400-46146000	Weak transcription	Right Ventricle	heart
13	chr12:46126400-46149600	Weak transcription	Right Atrium	heart
14	chr12:46126400-46161200	Weak transcription	Aorta	Aorta
15	chr12:46127200-46135000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:46127200-46135000	Weak transcription	Fetal Stomach	stomach
17	chr12:46127200-46137200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:46127200-46141800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:46127200-46141800	Weak transcription	NHDF-Ad	bronchial
20	chr12:46127200-46142800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:46127200-46142800	Weak transcription	Thymus	Thymus
22	chr12:46127200-46143400	Weak transcription	HSMMtube	muscle
23	chr12:46127200-46147600	Weak transcription	Colonic Mucosa	Colon
24	chr12:46127200-46150400	Weak transcription	NHLF	lung
25	chr12:46127200-46161200	Weak transcription	HMEC	breast
26	chr12:46127400-46144400	Weak transcription	NH-A	brain
27	chr12:46127400-46147600	Weak transcription	Fetal Heart	heart
28	chr12:46127400-46153600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:46127400-46154800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:46127400-46156000	Weak transcription	Adipose Nuclei	Adipose
31	chr12:46127600-46136000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:46127600-46141600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:46127800-46149000	Weak transcription	Brain Substantia Nigra	brain
34	chr12:46128000-46134800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:46128000-46148000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:46128200-46135000	Weak transcription	Pancreas	Pancrea
37	chr12:46128200-46164600	Weak transcription	Esophagus	oesophagus
38	chr12:46129200-46156600	Weak transcription	HepG2	liver
39	chr12:46129400-46156000	Weak transcription	Brain Angular Gyrus	brain
40	chr12:46129600-46137400	Weak transcription	Primary T cells from cord blood	blood
41	chr12:46129600-46144800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:46129600-46145400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:46130000-46137000	Weak transcription	Ovary	ovary
44	chr12:46130000-46147800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:46130400-46137000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:46130400-46147600	Weak transcription	Osteobl	bone
47	chr12:46130600-46135000	Weak transcription	HUVEC	blood vessel
48	chr12:46131200-46136200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:46131200-46136800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:46131200-46142800	Weak transcription	Brain Hippocampus Middle	brain

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