Variant report

Variant	rs8062183
Chromosome Location	chr16:70473934-70473935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70473248-70474246	HepG2	liver:	n/a	n/a
2	JUN	chr16:70472940-70474455	K562	blood:	n/a	n/a
3	MYBL2	chr16:70472928-70474485	HepG2	liver:	n/a	n/a
4	SMC3	chr16:70473899-70474178	HepG2	liver:	n/a	n/a
5	TBL1XR1	chr16:70473863-70474062	K562	blood:	n/a	n/a
6	ESRRA	chr16:70472844-70474303	GM12878	blood:	n/a	chr16:70473141-70473154
7	SIX5	chr16:70472970-70474064	A549	lung:	n/a	chr16:70473240-70473249 chr16:70473238-70473247
8	POLR2A	chr16:70473128-70474365	HepG2	liver:	n/a	n/a
9	MBD4	chr16:70473714-70474240	HepG2	liver:	n/a	n/a
10	CEBPD	chr16:70473859-70474225	HepG2	liver:	n/a	n/a
11	HCFC1	chr16:70472566-70474182	Hela-S3	cervix:	n/a	n/a
12	TEAD4	chr16:70473655-70474422	HepG2	liver:	n/a	n/a
13	ELF1	chr16:70473571-70474351	HepG2	liver:	n/a	chr16:70473675-70473686 chr16:70474189-70474200
14	CREB1	chr16:70472562-70474425	HepG2	liver:	n/a	n/a
15	MAZ	chr16:70470754-70474112	IMR90	lung:	n/a	chr16:70472684-70472694
16	POLR2A	chr16:70473823-70474204	HepG2	liver:	n/a	n/a
17	ZEB1	chr16:70472768-70474441	HepG2	liver:	n/a	n/a
18	SREBP1	chr16:70473002-70473986	GM12878	blood:	n/a	n/a
19	FOXA2	chr16:70473920-70474307	HepG2	liver:	n/a	n/a
20	REST	chr16:70472776-70474040	H1-neurons	neurons:	n/a	n/a
21	CEBPB	chr16:70473797-70474359	HepG2	liver:	n/a	chr16:70473846-70473859

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70473375..70475549-chr16:70479370..70482339,3	MCF-7	breast:
2	chr16:70472362..70474949-chr16:70478691..70481186,3	K562	blood:
3	chr16:70455763..70457596-chr16:70471554..70474518,2	K562	blood:
4	chr16:70321413..70324290-chr16:70473557..70475529,2	K562	blood:
5	chr16:70472361..70474333-chr16:70486789..70489619,2	MCF-7	breast:
6	chr16:70470745..70475630-chr16:70476191..70481668,5	MCF-7	breast:
7	chr16:70471134..70474092-chr16:70555921..70560516,5	K562	blood:
8	chr16:70472717..70474630-chr16:70487093..70489671,2	MCF-7	breast:
9	chr16:70455430..70458238-chr16:70472208..70474351,2	MCF-7	breast:
10	chr16:70379526..70383319-chr16:70470652..70474068,4	K562	blood:
11	chr16:70470174..70475385-chr16:70486021..70489021,8	K562	blood:

No data

Variant related genes	Relation type
ST3GAL2	TF binding region
ENSG00000240043	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000157353	Chromatin interaction
ENSG00000200153	Chromatin interaction
ENSG00000157349	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 26 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11054	0.82[EUR][1000 genomes]
rs11075767	0.95[CHD][hapmap];0.95[JPT][hapmap]
rs11075770	0.84[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs1134074	0.86[ASW][hapmap]
rs11641683	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11643373	0.83[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap]
rs11645437	0.95[JPT][hapmap]
rs11645585	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11648402	0.95[CHD][hapmap];1.00[JPT][hapmap]
rs11866400	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs12447090	0.86[ASW][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs12597401	0.89[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs12925729	0.84[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs2070203	0.83[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs2168606	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs2288491	0.89[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs2303792	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs2303793	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs34087264	0.82[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs3762171	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs3852695	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3859068	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4284632	1.00[JPT][hapmap]
rs4436771	0.89[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs4513092	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4985407	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs4985525	0.86[ASW][hapmap]
rs62049031	0.87[AMR][1000 genomes]
rs62049032	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6499320	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs7189474	0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs7192268	0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs7192865	0.93[CEU][hapmap];0.89[TSI][hapmap]
rs7200430	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs7201750	0.84[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs7204583	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs722579	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs744672	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7919	0.94[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs8049641	0.89[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs8051506	0.89[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs8052125	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs8053436	0.89[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs8057610	0.89[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap]
rs8058224	0.89[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap]
rs8062178	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs8063990	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs8064013	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs936994	0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9934440	0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9936225	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs9939726	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3446155	chr16:70471476-70474424	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3415918	chr16:70471751-70474174	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS 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	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:26)

SNP	Gene	Cis/trans	Tissue	Source
rs8062183	EXOSC6	cis	cerebellum	SCAN
rs8062183	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs8062183	RP11-296I10.6	cis	Esophagus Muscularis	GTEx
rs8062183	EXOSC6	cis	parietal	SCAN
rs8062183	TMCO7	cis	parietal	SCAN
rs8062183	RP11-296I10.6	cis	Thyroid	GTEx
rs8062183	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs8062183	RP11-296I10.6	cis	Muscle Skeletal	GTEx
rs8062183	RP11-419C5.2	cis	Muscle Skeletal	GTEx
rs8062183	CLEC18A	cis	Artery Aorta	GTEx
rs8062183	RANBP10	cis	parietal	SCAN
rs8062183	CLEC18A	cis	Skin Sun Exposed Lower leg	GTEx
rs8062183	WWP2	cis	parietal	SCAN
rs8062183	CLEC18A	cis	Whole Blood	GTEx
rs8062183	EXOSC6	Cis_1M	lymphoblastoid	RTeQTL
rs8062183	BMPR2	trans	parietal	SCAN
rs8062183	LOC440348	cis	multi-tissue	Pritchard
rs8062183	CLEC18C	cis	Whole Blood	GTEx
rs8062183	CLEC18A	cis	Artery Tibial	GTEx
rs8062183	RP11-296I10.6	cis	Skin Sun Exposed Lower leg	GTEx
rs8062183	EXOSC6	cis	Artery Tibial	GTEx
rs8062183	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx
rs8062183	EXOSC6	cis	multi-tissue	Pritchard
rs8062183	CLEC18C	cis	lung	GTEx
rs8062183	EXOSC6	cis	Muscle Skeletal	GTEx
rs8062183	EXOSC6	cis	uninvolved skin	skin_eQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70472200-70474000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:70472400-70474000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr16:70473200-70474000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr16:70473200-70474000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr16:70473200-70474200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr16:70473400-70474000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr16:70473400-70474000	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr16:70473400-70474000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr16:70473400-70474000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr16:70473400-70474000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:70473400-70474000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr16:70473400-70474000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr16:70473400-70474000	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr16:70473400-70474000	Flanking Active TSS	Fetal Intestine Large	intestine
15	chr16:70473400-70474000	Flanking Active TSS	Fetal Thymus	thymus
16	chr16:70473400-70474000	Flanking Active TSS	Thymus	Thymus
17	chr16:70473400-70474000	Flanking Active TSS	GM12878-XiMat	blood
18	chr16:70473400-70474000	Flanking Active TSS	HMEC	breast
19	chr16:70473400-70474000	Flanking Active TSS	HUVEC	blood vessel
20	chr16:70473400-70474000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr16:70473400-70474200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:70473400-70474200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:70473400-70474200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:70473400-70474200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:70473400-70474200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:70473400-70474200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:70473400-70474200	Flanking Active TSS	Dnd41	blood
28	chr16:70473400-70474200	Flanking Active TSS	K562	blood
29	chr16:70473600-70474000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr16:70473600-70474000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr16:70473600-70474000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:70473600-70474000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr16:70473600-70474000	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr16:70473600-70474000	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr16:70473600-70474000	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr16:70473600-70474000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr16:70473600-70474000	Flanking Active TSS	Fetal Brain Female	brain
38	chr16:70473600-70474000	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr16:70473600-70474000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr16:70473600-70474000	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr16:70473600-70474000	Flanking Active TSS	A549	lung
42	chr16:70473600-70474000	Flanking Active TSS	Hela-S3	cervix
43	chr16:70473600-70474200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr16:70473600-70474200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr16:70473800-70474000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr16:70473800-70474000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
47	chr16:70473800-70474000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr16:70473800-70474000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr16:70473800-70474000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr16:70473800-70474000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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