Variant report

Variant	rs7312849
Chromosome Location	chr12:29859352-29859353
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	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	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[EUR][1000 genomes]
rs57697154	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60702537	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487844	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9669642	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29830000-29861600	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:29830800-29862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:29837600-29864200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:29852200-29859400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:29852200-29862200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:29852200-29862200	Weak transcription	HMEC	breast
7	chr12:29852400-29862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:29853400-29864000	Weak transcription	Hela-S3	cervix
9	chr12:29854400-29860600	Weak transcription	Adipose Nuclei	Adipose
10	chr12:29854400-29866000	Weak transcription	HSMMtube	muscle
11	chr12:29854400-29879000	Weak transcription	Ovary	ovary
12	chr12:29854600-29862600	Weak transcription	Brain Anterior Caudate	brain
13	chr12:29854600-29863000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:29854800-29860400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:29854800-29860400	Weak transcription	Fetal Kidney	kidney
16	chr12:29855600-29859800	Weak transcription	Psoas Muscle	Psoas
17	chr12:29855600-29862800	Weak transcription	Aorta	Aorta
18	chr12:29855600-29878200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:29855800-29891200	Weak transcription	NHLF	lung
20	chr12:29856800-29860800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:29857400-29860800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:29857800-29862000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:29858000-29859400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:29858000-29860200	Enhancers	Colon Smooth Muscle	Colon
25	chr12:29858000-29860200	Enhancers	Stomach Smooth Muscle	stomach
26	chr12:29858200-29859800	Enhancers	Fetal Brain Male	brain
27	chr12:29858200-29860400	Enhancers	Left Ventricle	heart
28	chr12:29858200-29862000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:29858200-29862800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:29858200-29863000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:29858200-29863000	Weak transcription	HSMM	muscle
32	chr12:29858400-29860200	Enhancers	Fetal Stomach	stomach
33	chr12:29858400-29860200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr12:29858400-29862600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:29858600-29859800	Enhancers	Fetal Heart	heart
36	chr12:29858600-29862800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr12:29858800-29859400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:29859000-29859400	Enhancers	Brain Angular Gyrus	brain
39	chr12:29859000-29859600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr12:29859000-29859600	Enhancers	Brain Substantia Nigra	brain
41	chr12:29859000-29862600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:29859000-29864600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:29859200-29859400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:29859200-29859400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr12:29859200-29859600	Enhancers	Brain Germinal Matrix	brain
46	chr12:29859200-29859600	Enhancers	Fetal Brain Female	brain
47	chr12:29859200-29860200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr12:29859200-29860200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr12:29859200-29862600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:29859200-29862800	Weak transcription	Rectal Smooth Muscle	rectum

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