Variant report

Variant	rs11647932
Chromosome Location	chr16:70464818-70464819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70432680..70434812-chr16:70463932..70466643,2	K562	blood:
2	chr16:70435585..70438513-chr16:70463372..70466196,4	K562	blood:
3	chr16:70425399..70428053-chr16:70462305..70465036,2	MCF-7	breast:
4	chr16:70446187..70457827-chr16:70459568..70470659,26	K562	blood:
5	chr16:70381202..70383601-chr16:70463470..70465382,2	K562	blood:
6	chr16:70437013..70440067-chr16:70462393..70466171,3	K562	blood:
7	chr16:70463386..70464886-chr16:70471088..70473169,2	MCF-7	breast:
8	chr16:70453838..70456062-chr16:70463491..70466263,2	MCF-7	breast:
9	chr16:70462373..70465146-chr16:70559441..70561482,2	MCF-7	breast:
10	chr16:70461008..70469152-chr16:70556160..70559876,10	K562	blood:
11	chr16:70440964..70444815-chr16:70460997..70465510,6	K562	blood:
12	chr16:70460964..70466132-chr16:70555553..70559173,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000103051	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11649560	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12149660	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]
rs12325419	0.91[CEU][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.89[MEX][hapmap]
rs35949039	0.83[AFR][1000 genomes]
rs3852696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59447375	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71401806	0.85[EUR][1000 genomes];0.88[ASN][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	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11647932	EXOSC6	cis	parietal	SCAN
rs11647932	TRPT1	trans	parietal	SCAN
rs11647932	WWP2	cis	parietal	SCAN
rs11647932	HPR	cis	cerebellum	SCAN
rs11647932	SF3B3	cis	cerebellum	SCAN
rs11647932	EXOSC6	cis	cerebellum	SCAN
rs11647932	ZFP90	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70453800-70470800	Genic enhancers	Fetal Intestine Small	intestine
2	chr16:70458000-70468400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:70460400-70467000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr16:70460800-70465400	Enhancers	Lung	lung
5	chr16:70460800-70465600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:70460800-70465600	Enhancers	Left Ventricle	heart
7	chr16:70460800-70467400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:70460800-70467800	Enhancers	Spleen	Spleen
9	chr16:70460800-70469200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr16:70461000-70465400	Enhancers	Psoas Muscle	Psoas
11	chr16:70461000-70465600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr16:70461000-70465800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:70461000-70468400	Enhancers	Placenta	Placenta
14	chr16:70461400-70465000	Enhancers	NHLF	lung
15	chr16:70461400-70465600	Enhancers	Stomach Mucosa	stomach
16	chr16:70461400-70467600	Enhancers	Fetal Thymus	thymus
17	chr16:70461600-70465000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr16:70461600-70465200	Enhancers	Primary B cells from peripheral blood	blood
19	chr16:70461600-70465400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:70461600-70465400	Enhancers	Liver	Liver
21	chr16:70461600-70465400	Enhancers	Pancreas	Pancrea
22	chr16:70461600-70465400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr16:70461600-70465400	Enhancers	Right Ventricle	heart
24	chr16:70461600-70465400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr16:70461600-70466600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:70461600-70467600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr16:70461800-70465000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr16:70461800-70465400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr16:70461800-70468800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr16:70462400-70465800	Enhancers	Brain Hippocampus Middle	brain
31	chr16:70462600-70465400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:70462600-70465400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:70462600-70465600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr16:70462600-70465800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr16:70462600-70466800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:70462600-70466800	Enhancers	Duodenum Mucosa	Duodenum
37	chr16:70462600-70467200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr16:70462600-70467800	Enhancers	HUVEC	blood vessel
39	chr16:70462600-70468000	Enhancers	Fetal Kidney	kidney
40	chr16:70462600-70469200	Enhancers	NHDF-Ad	bronchial
41	chr16:70462800-70465400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:70462800-70465400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr16:70462800-70465800	Enhancers	Fetal Heart	heart
44	chr16:70462800-70465800	Enhancers	NH-A	brain
45	chr16:70462800-70466400	Enhancers	Fetal Lung	lung
46	chr16:70462800-70467400	Weak transcription	NHEK	skin
47	chr16:70462800-70468200	Enhancers	Fetal Muscle Trunk	muscle
48	chr16:70463000-70465200	Enhancers	Primary B cells from cord blood	blood
49	chr16:70463000-70465400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr16:70463000-70465400	Enhancers	Osteobl	bone

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