Variant report

Variant	rs6499323
Chromosome Location	chr16:70624483-70624484
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	chr16:70618565..70621131-chr16:70622633..70625023,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 12 )

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

rs_ID	r²[population]
rs11075772	0.84[ASN][1000 genomes]
rs11640374	0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs11643823	0.81[ASN][1000 genomes]
rs11645092	0.81[ASN][1000 genomes]
rs11645214	0.85[CHD][hapmap]
rs11645287	0.81[ASN][1000 genomes]
rs12931402	0.84[ASN][1000 genomes]
rs4592653	0.86[CHD][hapmap]
rs7198317	0.86[CHD][hapmap]

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs6499323	EXOSC6	cis	cerebellum	SCAN
rs6499323	IL34	cis	Nerve Tibial	GTEx
rs6499323	SF3B3	cis	cerebellum	SCAN
rs6499323	HPR	cis	cerebellum	SCAN
rs6499323	EXOSC6	cis	parietal	SCAN
rs6499323	LOC440348	cis	multi-tissue	Pritchard
rs6499323	WWP2	cis	parietal	SCAN
rs6499323	EXOSC6	Cis_1M	lymphoblastoid	RTeQTL
rs6499323	PDPR	cis	cerebellum	SCAN
rs6499323	EXOSC6	cis	multi-tissue	Pritchard
rs6499323	PDPR	cis	parietal	SCAN
rs6499323	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70608000-70624600	Weak transcription	Pancreas	Pancrea
2	chr16:70609000-70628000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:70622000-70626400	Enhancers	Fetal Stomach	stomach
4	chr16:70622400-70625000	Enhancers	HMEC	breast
5	chr16:70622800-70624600	Enhancers	Rectal Smooth Muscle	rectum
6	chr16:70623800-70624600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:70623800-70624600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:70623800-70624600	Enhancers	Placenta	Placenta
9	chr16:70623800-70624600	Flanking Active TSS	A549	lung
10	chr16:70623800-70624800	Enhancers	Esophagus	oesophagus
11	chr16:70623800-70625000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:70623800-70625000	Flanking Active TSS	Fetal Intestine Small	intestine
13	chr16:70623800-70625000	Enhancers	Fetal Lung	lung
14	chr16:70623800-70625200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr16:70623800-70625200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr16:70623800-70625400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:70623800-70625400	Flanking Active TSS	Osteobl	bone
18	chr16:70623800-70625800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:70623800-70626200	Enhancers	Right Ventricle	heart
20	chr16:70623800-70626400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:70623800-70626400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr16:70624000-70624600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr16:70624000-70624600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr16:70624000-70624600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr16:70624000-70624600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr16:70624000-70624600	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr16:70624000-70624600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr16:70624000-70625000	Enhancers	Ovary	ovary
29	chr16:70624000-70625200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:70624000-70625200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr16:70624000-70625200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:70624000-70625200	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr16:70624000-70625200	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr16:70624000-70625600	Enhancers	Aorta	Aorta
35	chr16:70624000-70625600	Enhancers	Fetal Heart	heart
36	chr16:70624000-70625800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr16:70624000-70626400	Enhancers	Left Ventricle	heart
38	chr16:70624000-70626400	Enhancers	Lung	lung
39	chr16:70624200-70624600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr16:70624200-70624600	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr16:70624200-70624600	Flanking Active TSS	HSMMtube	muscle
42	chr16:70624200-70624800	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr16:70624200-70624800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr16:70624200-70625000	Enhancers	Gastric	stomach
45	chr16:70624200-70625200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:70624200-70625200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr16:70624200-70625400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr16:70624200-70626200	Enhancers	Right Atrium	heart
49	chr16:70624200-70626400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr16:70624200-70626400	Enhancers	Colon Smooth Muscle	Colon

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