Variant report

Variant	rs12583864
Chromosome Location	chr13:40058463-40058464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17060071	0.89[CEU][hapmap]
rs1998986	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1998987	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9566439	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9566440	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9566441	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9566442	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9566443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9566444	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576817	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576818	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576822	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9594333	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757529	chr13:40040036-40090742	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759933	chr13:40040036-40090742	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40043600-40068200	Weak transcription	Lung	lung
2	chr13:40046000-40058800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:40051400-40064400	Weak transcription	HSMMtube	muscle
4	chr13:40054200-40060600	Weak transcription	Aorta	Aorta
5	chr13:40054400-40060800	Weak transcription	Fetal Lung	lung
6	chr13:40055600-40060000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:40056200-40058800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:40056800-40059000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr13:40056800-40060000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr13:40057000-40070400	Weak transcription	Right Ventricle	heart
11	chr13:40057200-40059200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:40057400-40058600	Enhancers	Adipose Nuclei	Adipose
13	chr13:40057400-40058800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr13:40057400-40059000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:40057400-40059000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:40057400-40059000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr13:40057400-40059000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:40057400-40059000	Enhancers	HMEC	breast
19	chr13:40057400-40059200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr13:40057400-40059400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:40057400-40059600	Enhancers	NHEK	skin
22	chr13:40057400-40060800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr13:40057400-40061400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr13:40057600-40059000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr13:40057600-40059000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:40057600-40059400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:40057600-40060800	Enhancers	HSMM	muscle
28	chr13:40057600-40061600	Enhancers	Osteobl	bone
29	chr13:40057800-40058600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr13:40057800-40058600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr13:40057800-40058600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr13:40057800-40058800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:40057800-40058800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr13:40057800-40058800	Enhancers	Fetal Heart	heart
35	chr13:40057800-40059000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr13:40057800-40059000	Enhancers	Brain Anterior Caudate	brain
37	chr13:40057800-40059800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr13:40057800-40059800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr13:40057800-40060200	Enhancers	NH-A	brain
40	chr13:40057800-40060200	Enhancers	NHDF-Ad	bronchial
41	chr13:40057800-40061200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr13:40057800-40063200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:40058000-40058600	Weak transcription	Colon Smooth Muscle	Colon
44	chr13:40058000-40059000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:40058000-40059200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:40058200-40058600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr13:40058400-40058800	Weak transcription	Left Ventricle	heart
48	chr13:40058400-40058800	Weak transcription	Ovary	ovary
49	chr13:40058400-40060400	Enhancers	HUVEC	blood vessel
50	chr13:40058400-40068200	Weak transcription	Right Atrium	heart

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