Variant report

Variant	rs12070427
Chromosome Location	chr1:67151871-67151872
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	chr1:67145865..67147453-chr1:67149356..67152142,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1032634	1.00[CHB][hapmap]
rs1032635	1.00[CHB][hapmap]
rs11208917	0.82[GIH][hapmap]
rs11810644	1.00[CHB][hapmap]
rs12083409	0.82[GIH][hapmap]
rs12092996	0.82[GIH][hapmap]
rs1280280	1.00[CHB][hapmap]
rs1280310	1.00[CHB][hapmap]
rs17129327	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17129329	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs17129365	1.00[CHB][hapmap]
rs17440989	1.00[CHB][hapmap]
rs17492182	1.00[CHB][hapmap]
rs2146904	1.00[CHB][hapmap]
rs2483704	1.00[CHB][hapmap]
rs2483705	1.00[CHB][hapmap]
rs2916	1.00[CHB][hapmap]
rs485521	1.00[CHB][hapmap]
rs492109	1.00[CHB][hapmap]
rs499263	1.00[CHB][hapmap]
rs502690	1.00[CHB][hapmap]
rs523132	1.00[CHB][hapmap]
rs523188	1.00[CHB][hapmap]
rs523956	1.00[CHB][hapmap]
rs524114	1.00[CHB][hapmap]
rs536410	1.00[CHB][hapmap]
rs536527	1.00[CHB][hapmap]
rs539014	1.00[CHB][hapmap]
rs602513	1.00[CHB][hapmap]
rs603750	1.00[CHB][hapmap]
rs618093	1.00[CHB][hapmap]
rs628655	1.00[CHB][hapmap]
rs659291	1.00[CHB][hapmap]
rs665319	1.00[CHB][hapmap]
rs672230	1.00[CHB][hapmap]
rs7515848	1.00[CHB][hapmap]
rs7535237	0.82[GIH][hapmap]
rs7554101	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67090400-67155000	Weak transcription	Fetal Heart	heart
2	chr1:67109600-67155000	Weak transcription	Brain Anterior Caudate	brain
3	chr1:67111400-67154800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:67114200-67156400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:67135200-67154200	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:67135600-67155400	Weak transcription	Brain Substantia Nigra	brain
7	chr1:67137600-67155000	Weak transcription	Brain Germinal Matrix	brain
8	chr1:67137800-67155000	Weak transcription	Fetal Brain Male	brain
9	chr1:67138000-67154800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:67140400-67154800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:67140600-67161200	Weak transcription	Esophagus	oesophagus
12	chr1:67144600-67155000	Weak transcription	Left Ventricle	heart
13	chr1:67144600-67160800	Weak transcription	Lung	lung
14	chr1:67146200-67154800	Weak transcription	Brain Angular Gyrus	brain
15	chr1:67148200-67156600	Weak transcription	Aorta	Aorta
16	chr1:67148400-67154600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:67148400-67154800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:67148400-67155000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:67148800-67154800	Weak transcription	NHLF	lung
20	chr1:67149000-67154800	Weak transcription	Fetal Brain Female	brain
21	chr1:67149200-67161000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:67149600-67153600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:67149800-67153600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:67150200-67154400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:67150400-67153200	Weak transcription	Dnd41	blood
26	chr1:67150400-67153400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:67150600-67152000	Enhancers	Osteobl	bone
28	chr1:67150800-67152000	Enhancers	NH-A	brain
29	chr1:67150800-67152600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:67151000-67152000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:67151200-67152000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:67151200-67153200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:67151400-67152800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:67151400-67153400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:67151600-67152000	Enhancers	HMEC	breast
36	chr1:67151800-67152800	Enhancers	GM12878-XiMat	blood
37	chr1:67151800-67154800	Weak transcription	NHDF-Ad	bronchial

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