Variant report

Variant	rs975211
Chromosome Location	chr6:150521638-150521639
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	chr6:150520781..150525407-chr6:150526478..150529331,4	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2144400	1.00[JPT][hapmap]
rs34244559	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869853	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4870368	1.00[ASN][1000 genomes]
rs55747871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906581	0.94[EUR][1000 genomes]
rs73007966	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7751160	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9397729	0.85[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.84[MEX][hapmap];0.81[MKK][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]

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	nsv830843	chr6:150517411-150691173	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs975211	AKAP12	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150514800-150524000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:150517600-150529200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:150518000-150522200	Enhancers	Left Ventricle	heart
4	chr6:150518200-150523000	Weak transcription	Stomach Mucosa	stomach
5	chr6:150518200-150530800	Enhancers	Fetal Heart	heart
6	chr6:150518600-150521800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:150518600-150522400	Weak transcription	Pancreas	Pancrea
8	chr6:150518600-150523200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:150518600-150523200	Weak transcription	Lung	lung
10	chr6:150519400-150522000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr6:150519600-150522000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:150519800-150524200	Enhancers	K562	blood
13	chr6:150519800-150524800	Enhancers	Fetal Intestine Large	intestine
14	chr6:150520000-150521800	Enhancers	NHEK	skin
15	chr6:150520200-150524400	Enhancers	Fetal Intestine Small	intestine
16	chr6:150520200-150525200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:150520400-150522000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:150520600-150523200	Weak transcription	Right Ventricle	heart
19	chr6:150520800-150523200	Enhancers	Colonic Mucosa	Colon
20	chr6:150520800-150523200	Enhancers	Duodenum Mucosa	Duodenum
21	chr6:150521000-150523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr6:150521400-150522000	Enhancers	HMEC	breast
23	chr6:150521400-150522600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr6:150521600-150521800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:150521600-150521800	Enhancers	Esophagus	oesophagus
26	chr6:150521600-150521800	Enhancers	Psoas Muscle	Psoas
27	chr6:150521600-150522000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr6:150521600-150522200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr6:150521600-150522200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:150521600-150522200	Enhancers	Fetal Muscle Leg	muscle
31	chr6:150521600-150522200	Enhancers	Right Atrium	heart
32	chr6:150521600-150522200	Enhancers	Small Intestine	intestine
33	chr6:150521600-150523200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr6:150521600-150526600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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