Variant report

Variant	rs9471517
Chromosome Location	chr6:12341753-12341754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:12341393..12343735-chr6:12346097..12348684,2	MCF-7	breast:
2	chr6:12326975..12328515-chr6:12341248..12343129,2	MCF-7	breast:
3	chr6:12329368..12332356-chr6:12340558..12342942,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12110345	0.90[EUR][1000 genomes]
rs16872679	0.89[EUR][1000 genomes]
rs16872704	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6903351	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6927883	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs73367561	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7760229	0.81[CEU][hapmap];0.89[GIH][hapmap];0.89[EUR][1000 genomes]
rs9471486	0.89[EUR][1000 genomes]
rs9471496	0.89[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	nsv508394	chr6:12285464-12386745	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv528681	chr6:12340034-12362219	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9471517	MAK	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12332200-12344000	Weak transcription	Aorta	Aorta
2	chr6:12335000-12342000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr6:12335000-12342000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:12336000-12343400	Weak transcription	Fetal Kidney	kidney
5	chr6:12336800-12341800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:12336800-12342000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:12336800-12342000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:12337000-12341800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:12337200-12342000	Weak transcription	Hela-S3	cervix
10	chr6:12337200-12348600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:12338200-12343000	Enhancers	Liver	Liver
12	chr6:12338200-12345800	Enhancers	Fetal Intestine Small	intestine
13	chr6:12338600-12342600	Enhancers	A549	lung
14	chr6:12338800-12345800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:12339000-12346200	Enhancers	Fetal Intestine Large	intestine
16	chr6:12340200-12342000	Weak transcription	Small Intestine	intestine
17	chr6:12340400-12341800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:12340400-12342000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:12340600-12341800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:12340800-12343200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:12340800-12343600	Enhancers	HepG2	liver
22	chr6:12340800-12344000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:12340800-12348000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:12341000-12342000	Weak transcription	Pancreas	Pancrea
25	chr6:12341000-12343400	Weak transcription	NHEK	skin
26	chr6:12341000-12348000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:12341400-12342000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:12341400-12342800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:12341400-12343000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:12341400-12344000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:12341600-12342200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:12341600-12342200	Enhancers	Fetal Thymus	thymus
33	chr6:12341600-12342200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr6:12341600-12342600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:12341600-12342600	Enhancers	Gastric	stomach
36	chr6:12341600-12343800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr6:12341600-12344800	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr6:12341600-12345800	Enhancers	Duodenum Mucosa	Duodenum
39	chr6:12341600-12346800	Enhancers	Stomach Mucosa	stomach

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