Variant report

Variant	rs7192268
Chromosome Location	chr16:70382179-70382180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70381960-70382435	HepG2	liver:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70379447..70384942-chr16:70556059..70561583,7	K562	blood:
2	chr16:70321381..70324414-chr16:70379252..70382918,7	MCF-7	breast:
3	chr16:70283970..70285913-chr16:70380669..70382950,2	K562	blood:
4	chr16:70379206..70382816-chr16:70556059..70558953,4	K562	blood:
5	chr16:70379526..70383319-chr16:70470652..70474068,4	K562	blood:
6	chr16:70375788..70377818-chr16:70381402..70383532,2	K562	blood:
7	chr16:70315876..70318226-chr16:70381253..70382948,2	K562	blood:
8	chr16:70380932..70385143-chr16:70404657..70409914,6	MCF-7	breast:
9	chr16:70381202..70383601-chr16:70463470..70465382,2	K562	blood:
10	chr16:70380612..70382422-chr16:70687697..70689426,2	MCF-7	breast:
11	chr16:70381919..70383634-chr16:70512388..70514213,2	K562	blood:
12	chr16:70318554..70325188-chr16:70378714..70382302,15	K562	blood:
13	chr16:70321709..70323528-chr16:70379604..70382270,2	MCF-7	breast:
14	chr16:70380684..70382354-chr16:70595667..70598602,2	MCF-7	breast:
15	chr16:70378223..70384231-chr16:70413255..70416872,7	MCF-7	breast:
16	chr16:70320111..70324850-chr16:70378173..70382680,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261777	TF binding region
ENSG00000157350	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000157368	Chromatin interaction
ENSG00000223496	Chromatin interaction
ENSG00000090861	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 57 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1044876	0.83[CEU][hapmap]
rs11075767	0.85[CHD][hapmap];0.95[JPT][hapmap]
rs1134074	0.82[CHD][hapmap]
rs11641683	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11645437	0.95[JPT][hapmap]
rs11645585	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11648402	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs11866400	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs12102803	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12446395	0.85[CEU][hapmap]
rs12447090	0.88[CHD][hapmap];0.91[JPT][hapmap]
rs12925729	0.84[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs2070203	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs2287983	0.87[JPT][hapmap]
rs2288491	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs2303792	0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs2303793	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs28733806	0.85[ASN][1000 genomes]
rs34087264	0.94[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs3762171	0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs3859068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4985407	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap]
rs4985525	0.82[CHD][hapmap]
rs7189474	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7200430	0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7201750	0.84[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs7204583	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs722579	0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs775208	0.80[ASN][1000 genomes]
rs7919	0.83[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs8049641	0.89[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs8051506	0.89[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs8052125	0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs8057610	0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs8058224	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8062183	0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs8063690	0.87[ASN][1000 genomes]
rs8063990	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs8064013	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs936994	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs9927553	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9934440	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs9936225	0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs9939726	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3390669	chr16:70363244-70400179	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	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:57)

SNP	Gene	Cis/trans	Tissue	Source
rs7192268	EXOSC6	cis	normal skin	skin_eQTL
rs7192268	RP11-296I10.6	cis	Nerve Tibial	GTEx
rs7192268	RP11-296I10.6	cis	Stomach	GTEx
rs7192268	RP11-296I10.6	cis	Adipose Subcutaneous	GTEx
rs7192268	PDXDC2P	cis	Esophagus Muscularis	GTEx
rs7192268	EXOSC6	cis	cerebellum	SCAN
rs7192268	CLEC18A	cis	Thyroid	GTEx
rs7192268	RP11-419C5.2	cis	Nerve Tibial	GTEx
rs7192268	PDXDC2P	cis	Artery Tibial	GTEx
rs7192268	EXOSC6	cis	lung	GTEx
rs7192268	AARS	Cis_1M	lymphoblastoid	RTeQTL
rs7192268	EXOSC6	cis	Muscle Skeletal	GTEx
rs7192268	EXOSC6	cis	uninvolved skin	skin_eQTL
rs7192268	EXOSC6	cis	Thyroid	GTEx
rs7192268	EXOSC6	cis	Adipose Subcutaneous	GTEx
rs7192268	RP11-419C5.2	cis	lung	GTEx
rs7192268	EXOSC6	cis	Nerve Tibial	GTEx
rs7192268	EXOSC6	cis	parietal	SCAN
rs7192268	EXOSC6	cis	Heart Left Ventricle	GTEx
rs7192268	CLEC18A	cis	Artery Tibial	GTEx
rs7192268	CLEC18C	cis	Whole Blood	GTEx
rs7192268	EXOSC6	cis	Artery Aorta	GTEx
rs7192268	RP11-419C5.2	cis	Adipose Subcutaneous	GTEx
rs7192268	EXOSC6	cis	Artery Tibial	GTEx
rs7192268	EXOSC6	cis	Stomach	GTEx
rs7192268	RP11-296I10.6	cis	Whole Blood	GTEx
rs7192268	EXOSC6	cis	Skin Sun Exposed Lower leg	GTEx
rs7192268	PDXDC2P	cis	lung	GTEx
rs7192268	EXOSC6	cis	Esophagus Mucosa	GTEx
rs7192268	RP11-296I10.6	cis	Heart Left Ventricle	GTEx
rs7192268	RP11-296I10.6	cis	lung	GTEx
rs7192268	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs7192268	EXOSC6	Cis_1M	lymphoblastoid	RTeQTL
rs7192268	TMCO7	cis	parietal	SCAN
rs7192268	CLEC18A	cis	Whole Blood	GTEx
rs7192268	RP11-296I10.6	cis	Esophagus Muscularis	GTEx
rs7192268	CLEC18C	cis	Artery Tibial	GTEx
rs7192268	PDXDC2P	cis	Nerve Tibial	GTEx
rs7192268	CLEC18C	cis	Nerve Tibial	GTEx
rs7192268	PDXDC2P	cis	parietal	SCAN
rs7192268	WWP2	cis	parietal	SCAN
rs7192268	PDXDC2P	cis	Thyroid	GTEx
rs7192268	PDXDC2P	cis	Artery Aorta	GTEx
rs7192268	CLEC18A	cis	lung	GTEx
rs7192268	EXOSC6	cis	brain	BrainEAC
rs7192268	RP11-296I10.6	cis	Artery Tibial	GTEx
rs7192268	RP11-419C5.2	cis	Muscle Skeletal	GTEx
rs7192268	RP11-296I10.6	cis	Skin Sun Exposed Lower leg	GTEx
rs7192268	RP11-419C5.2	cis	Esophagus Muscularis	GTEx
rs7192268	PDXDC2P	cis	Adipose Subcutaneous	GTEx
rs7192268	EXOSC6	cis	Whole Blood	GTEx
rs7192268	RP11-296I10.6	cis	Thyroid	GTEx
rs7192268	EXOSC6	cis	Esophagus Muscularis	GTEx
rs7192268	CLEC18A	cis	Skin Sun Exposed Lower leg	GTEx
rs7192268	PDXDC2P	cis	Muscle Skeletal	GTEx
rs7192268	RP11-296I10.6	cis	Muscle Skeletal	GTEx
rs7192268	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70379600-70382200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:70379800-70382200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr16:70379800-70382200	Active TSS	NH-A	brain
4	chr16:70379800-70382400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr16:70380000-70382200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr16:70380000-70382200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:70380000-70382200	Active TSS	Psoas Muscle	Psoas
8	chr16:70381000-70382200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:70381000-70382200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:70381200-70382200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:70381200-70386200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:70381200-70388800	Weak transcription	Spleen	Spleen
13	chr16:70381200-70389200	Weak transcription	Gastric	stomach
14	chr16:70381400-70382200	Enhancers	Primary B cells from peripheral blood	blood
15	chr16:70381400-70382200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr16:70381400-70382200	Weak transcription	Left Ventricle	heart
17	chr16:70381400-70382400	Enhancers	Small Intestine	intestine
18	chr16:70381400-70382400	Flanking Active TSS	Dnd41	blood
19	chr16:70381400-70386600	Weak transcription	Esophagus	oesophagus
20	chr16:70381400-70389000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:70381400-70394400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:70381600-70382200	Enhancers	Primary B cells from cord blood	blood
23	chr16:70381600-70382200	Enhancers	Primary hematopoietic stem cells	blood
24	chr16:70381600-70382200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr16:70381600-70382200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr16:70381600-70382200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr16:70381600-70382200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr16:70381600-70382200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:70381600-70382200	Enhancers	Brain Angular Gyrus	brain
30	chr16:70381600-70382200	Enhancers	Brain Anterior Caudate	brain
31	chr16:70381600-70382200	Active TSS	Brain Germinal Matrix	brain
32	chr16:70381600-70382200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr16:70381600-70382200	Enhancers	Fetal Brain Male	brain
34	chr16:70381600-70382200	Enhancers	Fetal Lung	lung
35	chr16:70381600-70382200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr16:70381600-70382200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr16:70381600-70382200	Enhancers	Rectal Smooth Muscle	rectum
38	chr16:70381600-70382200	Enhancers	Stomach Mucosa	stomach
39	chr16:70381600-70382200	Enhancers	Stomach Smooth Muscle	stomach
40	chr16:70381600-70382400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr16:70381600-70382400	Enhancers	Brain Cingulate Gyrus	brain
42	chr16:70381600-70382400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr16:70381600-70382400	Enhancers	Fetal Intestine Large	intestine
44	chr16:70381600-70382400	Enhancers	Placenta	Placenta
45	chr16:70381600-70382400	Enhancers	Fetal Stomach	stomach
46	chr16:70381600-70382400	Enhancers	Lung	lung
47	chr16:70381600-70382400	Enhancers	Thymus	Thymus
48	chr16:70381600-70382400	Enhancers	NHDF-Ad	bronchial
49	chr16:70381600-70382600	Enhancers	Duodenum Mucosa	Duodenum
50	chr16:70381600-70382600	Enhancers	Fetal Muscle Leg	muscle

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