Variant report

Variant	rs60702537
Chromosome Location	chr12:29856524-29856525
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	chr12:29854564..29857428-chr12:29857524..29860543,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10771571	0.80[EUR][1000 genomes]
rs57697154	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6487844	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7312849	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9669642	0.83[EUR][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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv557921	chr12:29843095-29859352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29830000-29861600	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:29830200-29857400	Weak transcription	HSMM	muscle
3	chr12:29830400-29857400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:29830600-29858000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:29830800-29862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:29837600-29864200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:29839400-29858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:29840600-29859000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:29848200-29857200	Weak transcription	Left Ventricle	heart
10	chr12:29852200-29856600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:29852200-29858600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:29852200-29859200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:29852200-29859400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:29852200-29862200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:29852200-29862200	Weak transcription	HMEC	breast
16	chr12:29852400-29862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:29852600-29856800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:29852600-29857000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:29852600-29859200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:29852800-29859200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:29853400-29864000	Weak transcription	Hela-S3	cervix
22	chr12:29854400-29856800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:29854400-29860600	Weak transcription	Adipose Nuclei	Adipose
24	chr12:29854400-29866000	Weak transcription	HSMMtube	muscle
25	chr12:29854400-29879000	Weak transcription	Ovary	ovary
26	chr12:29854600-29857200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:29854600-29857400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:29854600-29858400	Weak transcription	Fetal Stomach	stomach
29	chr12:29854600-29862600	Weak transcription	Brain Anterior Caudate	brain
30	chr12:29854600-29863000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:29854800-29860400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:29854800-29860400	Weak transcription	Fetal Kidney	kidney
33	chr12:29855600-29858000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:29855600-29858600	Weak transcription	Right Ventricle	heart
35	chr12:29855600-29859800	Weak transcription	Psoas Muscle	Psoas
36	chr12:29855600-29862800	Weak transcription	Aorta	Aorta
37	chr12:29855600-29878200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:29855800-29858000	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:29855800-29891200	Weak transcription	NHLF	lung
40	chr12:29856400-29858600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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