Variant report

Variant	rs12732561
Chromosome Location	chr1:77978537-77978538
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	chr1:77970720..77974460-chr1:77976825..77981208,5	K562	blood:
2	chr1:77963812..77966662-chr1:77976245..77978998,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12731121	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12746354	0.81[EUR][1000 genomes]
rs12756133	0.82[EUR][1000 genomes]
rs12760589	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13376422	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17380852	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2454328	0.86[EUR][1000 genomes]
rs2647497	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35254623	0.85[EUR][1000 genomes]
rs35635429	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35883964	0.85[EUR][1000 genomes]
rs4949803	0.86[EUR][1000 genomes]
rs66538606	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72681697	1.00[AMR][1000 genomes];0.98[EUR][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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv871143	chr1:77955577-78031994	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77969600-77981600	Enhancers	HUVEC	blood vessel
2	chr1:77971000-77980400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:77971200-77978800	Weak transcription	Primary T cells from cord blood	blood
4	chr1:77971200-77980600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:77972800-77979200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:77973600-77983400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:77974600-77982200	Enhancers	NHDF-Ad	bronchial
8	chr1:77975200-77979600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:77976000-77978800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:77976200-77979000	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:77977400-77979600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:77977600-77978800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:77977600-77979200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:77977600-77979200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:77977600-77979200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:77977600-77979400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:77977600-77979400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:77977600-77979400	Weak transcription	Brain Angular Gyrus	brain
19	chr1:77977600-77979400	Weak transcription	HMEC	breast
20	chr1:77977800-77978800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:77977800-77978800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:77977800-77978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:77977800-77978800	Weak transcription	Brain Anterior Caudate	brain
24	chr1:77977800-77978800	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:77977800-77978800	Weak transcription	NH-A	brain
26	chr1:77977800-77979000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:77977800-77979400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:77977800-77979400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:77977800-77979400	Weak transcription	Brain Germinal Matrix	brain
30	chr1:77977800-77979400	Weak transcription	Brain Substantia Nigra	brain
31	chr1:77977800-77979600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:77977800-77979600	Weak transcription	Hela-S3	cervix
33	chr1:77977800-77979600	Enhancers	HSMM	muscle
34	chr1:77977800-77980400	Weak transcription	Ovary	ovary
35	chr1:77978000-77978800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:77978000-77979000	Weak transcription	Osteobl	bone
37	chr1:77978000-77979800	Weak transcription	A549	lung
38	chr1:77978200-77978600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:77978200-77978800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:77978200-77978800	Weak transcription	HSMMtube	muscle
41	chr1:77978200-77979400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:77978400-77978600	Weak transcription	NHLF	lung

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