Variant report

Variant	rs8045634
Chromosome Location	chr16:12119251-12119252
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12118417..12120062-chr16:12153867..12156683,2	MCF-7	breast:
2	chr16:12117802..12119808-chr16:12131237..12134162,2	MCF-7	breast:
3	chr16:12068828..12072359-chr16:12117169..12120715,5	MCF-7	breast:
4	chr16:12007062..12009110-chr16:12118067..12119851,2	K562	blood:
5	chr16:12117021..12119619-chr17:59487538..59489759,2	MCF-7	breast:
6	chr16:12007751..12010680-chr16:12116935..12120021,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187013	Chromatin interaction
ENSG00000234719	Chromatin interaction
ENSG00000103342	Chromatin interaction
ENSG00000266163	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000260488	Chromatin interaction
ENSG00000048471	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11639821	0.81[MEX][hapmap]
rs11648404	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11648938	0.96[CEU][hapmap];0.83[TSI][hapmap]
rs13336813	0.82[CHB][hapmap]
rs2869492	0.88[CEU][hapmap]
rs417938	0.82[MEX][hapmap]
rs7197059	0.86[MEX][hapmap]
rs8050827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8051278	0.82[CHB][hapmap]
rs8051349	0.96[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs8062691	0.96[CEU][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs8045634	TNFRSF17	cis	cerebellum	SCAN
rs8045634	RP11-166B2.1	cis	Nerve Tibial	GTEx
rs8045634	TNFRSF17	cis	parietal	SCAN
rs8045634	RP11-166B2.1	cis	Esophagus Muscularis	GTEx
rs8045634	GSPT1	cis	parietal	SCAN
rs8045634	NTAN1	cis	parietal	SCAN
rs8045634	RP11-166B2.1	cis	Artery Tibial	GTEx
rs8045634	RP11-166B2.1	cis	Adipose Subcutaneous	GTEx
rs8045634	RP11-166B2.1	cis	Whole Blood	GTEx
rs8045634	RP11-166B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs8045634	RP11-166B2.1	cis	Stomach	GTEx
rs8045634	RP11-166B2.1	cis	Heart Left Ventricle	GTEx
rs8045634	RP11-166B2.1	cis	Thyroid	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12071400-12130800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:12071800-12140200	Weak transcription	Fetal Intestine Small	intestine
3	chr16:12098400-12136000	Weak transcription	Fetal Stomach	stomach
4	chr16:12099600-12135200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:12099600-12141200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr16:12101800-12121400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr16:12101800-12123600	Weak transcription	Lung	lung
8	chr16:12101800-12129800	Weak transcription	Aorta	Aorta
9	chr16:12102000-12124200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr16:12105000-12120600	Weak transcription	Brain Substantia Nigra	brain
11	chr16:12105200-12142200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr16:12105400-12120800	Weak transcription	Fetal Thymus	thymus
13	chr16:12105800-12120800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr16:12105800-12124200	Weak transcription	Primary T cells from cord blood	blood
15	chr16:12108400-12119400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr16:12108600-12128400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr16:12109800-12124200	Weak transcription	Left Ventricle	heart
18	chr16:12109800-12142200	Weak transcription	Gastric	stomach
19	chr16:12110600-12119600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:12110800-12119400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:12111000-12119400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:12112000-12120800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:12112000-12124200	Weak transcription	HSMMtube	muscle
24	chr16:12112000-12129200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:12112000-12142200	Weak transcription	NHLF	lung
26	chr16:12112000-12144000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr16:12113200-12129200	Weak transcription	Ovary	ovary
28	chr16:12114200-12120800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:12115200-12140600	Weak transcription	Thymus	Thymus
30	chr16:12116200-12141000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr16:12116600-12120800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr16:12116800-12120000	Weak transcription	Brain Hippocampus Middle	brain
33	chr16:12116800-12129600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:12116800-12130800	Weak transcription	Fetal Kidney	kidney
35	chr16:12117200-12140400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr16:12117400-12183400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr16:12117600-12120200	Weak transcription	Fetal Brain Female	brain
38	chr16:12117800-12119800	Enhancers	HepG2	liver
39	chr16:12117800-12120400	Enhancers	Placenta	Placenta
40	chr16:12118200-12119600	Enhancers	Pancreas	Pancrea
41	chr16:12118200-12120200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:12118200-12140400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr16:12118400-12119400	Enhancers	Stomach Mucosa	stomach
44	chr16:12118400-12120000	Weak transcription	Esophagus	oesophagus
45	chr16:12118400-12121600	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr16:12118400-12130800	Weak transcription	Right Ventricle	heart
47	chr16:12118600-12119400	Weak transcription	GM12878-XiMat	blood
48	chr16:12118600-12119400	Weak transcription	NHEK	skin
49	chr16:12118600-12119600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr16:12118600-12120800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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