Variant report

Variant	rs11645214
Chromosome Location	chr16:70608987-70608988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70608079-70609097	GM12892	blood:	n/a	n/a
2	POLR2A	chr16:70608092-70609126	K562	blood:	n/a	n/a
3	POLR2A	chr16:70605504-70611628	K562	blood:	n/a	n/a
4	POLR2A	chr16:70608742-70609899	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:70608219-70609204	HL-60	blood:	n/a	n/a
6	POLR2A	chr16:70605539-70612779	K562	blood:	n/a	n/a
7	POLR2A	chr16:70608104-70609092	HL-60	blood:	n/a	n/a
8	POLR2A	chr16:70608978-70608987	MCF-7	breast:	n/a	n/a
9	POLR2A	chr16:70606581-70609175	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr16:70608771-70609086	K562	blood:	n/a	n/a
11	POLR2A	chr16:70607113-70609065	K562	blood:	n/a	n/a
12	POLR2A	chr16:70606634-70609056	MCF10A-Er-Src	breast:	n/a	n/a
13	RCOR1	chr16:70607146-70609081	IMR90	lung:	n/a	n/a
14	ZNF384	chr16:70608968-70609120	K562	blood:	n/a	n/a
15	POLR2A	chr16:70608281-70609086	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr16:70608035-70609120	HepG2	liver:	n/a	n/a
17	NFATC1	chr16:70608605-70609048	GM12878	blood:	n/a	n/a
18	POLR2A	chr16:70606088-70609006	HepG2	liver:	n/a	n/a
19	POLR2A	chr16:70608847-70609056	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr16:70608779-70609083	GM12892	blood:	n/a	n/a
21	POLR2A	chr16:70607290-70609051	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr16:70608700-70611737	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr16:70608489-70609088	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr16:70608803-70609055	H1-hESC	embryonic stem cell:	n/a	n/a
25	USF2	chr16:70608852-70609055	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr16:70603398-70612236	HepG2	liver:	n/a	n/a
27	POLR2A	chr16:70608764-70609076	HepG2	liver:	n/a	n/a
28	POLR2A	chr16:70608090-70609065	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70607368..70609448-chr16:70611142..70612742,2	K562	blood:
2	chr16:70601929..70604182-chr16:70607134..70609242,3	MCF-7	breast:
3	chr16:70607368..70609264-chr16:70610510..70612742,2	K562	blood:

No data

Variant related genes	Relation type
IL34	TF binding region
ENSG00000260023	TF binding region
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10852465	0.86[EUR][1000 genomes]
rs11075767	0.96[CEU][hapmap];0.82[GIH][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs11075768	0.97[EUR][1000 genomes]
rs11075769	0.91[EUR][1000 genomes]
rs11075770	0.82[ASW][hapmap];0.96[CEU][hapmap];0.85[LWK][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs11075772	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11640374	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11641683	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs11643373	0.96[CEU][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs11643823	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11645092	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11645287	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11645437	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs11645585	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs11648402	0.96[CEU][hapmap];0.84[GIH][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs11649624	0.88[EUR][1000 genomes]
rs11866400	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs12446395	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs12597401	0.96[CEU][hapmap];0.84[GIH][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs12909	0.95[EUR][1000 genomes]
rs12925729	0.96[CEU][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs12931402	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12933634	0.81[EUR][1000 genomes]
rs2168606	0.96[CEU][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs2288491	0.96[CEU][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs2303793	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs33910368	0.96[EUR][1000 genomes]
rs34567847	0.97[EUR][1000 genomes]
rs34890962	0.91[EUR][1000 genomes]
rs3762171	0.96[CEU][hapmap];0.82[GIH][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs4284632	0.96[CEU][hapmap];0.80[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4324119	0.94[EUR][1000 genomes]
rs4436771	0.96[CEU][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs4513092	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs4592653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs58963621	0.92[EUR][1000 genomes]
rs6499320	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs6499321	0.97[EUR][1000 genomes]
rs71401814	0.95[EUR][1000 genomes]
rs7192865	0.84[JPT][hapmap];0.86[LWK][hapmap]
rs7195030	0.91[EUR][1000 genomes]
rs7197262	0.97[EUR][1000 genomes]
rs7197840	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7198317	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];0.99[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7199859	0.82[EUR][1000 genomes]
rs7200430	0.96[CEU][hapmap];0.84[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs7201750	0.96[CEU][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs7204583	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs722579	0.96[CEU][hapmap];0.84[GIH][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs8045651	0.83[EUR][1000 genomes]
rs8046881	0.93[EUR][1000 genomes]
rs8049641	0.96[CEU][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs8049786	0.91[EUR][1000 genomes]
rs8051506	0.96[CEU][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes]
rs8052031	0.85[EUR][1000 genomes]
rs8052125	0.96[CEU][hapmap];0.84[GIH][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs8057610	0.96[CEU][hapmap];0.82[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs8062178	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs8063990	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs8064013	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs9635522	0.97[EUR][1000 genomes]
rs9929904	0.82[EUR][1000 genomes]
rs9936225	0.96[CEU][hapmap];0.84[GIH][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs11645214	EXOSC6	cis	multi-tissue	Pritchard
rs11645214	LOC283970	cis	multi-tissue	Pritchard
rs11645214	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs11645214	SF3B3	cis	cerebellum	SCAN
rs11645214	RP11-419C5.2	cis	Muscle Skeletal	GTEx
rs11645214	RP11-296I10.6	cis	Skin Sun Exposed Lower leg	GTEx
rs11645214	WWP2	cis	cerebellum	SCAN
rs11645214	WWP2	cis	parietal	SCAN
rs11645214	SF3B3	cis	parietal	SCAN
rs11645214	EXOSC6	cis	cerebellum	SCAN
rs11645214	C16orf86	cis	cerebellum	SCAN
rs11645214	TMCO7	cis	parietal	SCAN
rs11645214	PDPR	cis	parietal	SCAN
rs11645214	RP11-296I10.6	cis	Artery Tibial	GTEx
rs11645214	LOC440348	cis	multi-tissue	Pritchard
rs11645214	EXOSC6	cis	parietal	SCAN
rs11645214	PDPR	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70560600-70609600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr16:70561000-70609000	Strong transcription	H1 Cell Line	embryonic stem cell
3	chr16:70561000-70609400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr16:70561000-70610000	Strong transcription	Thymus	Thymus
5	chr16:70561200-70609400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr16:70561200-70609600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr16:70561400-70609000	Strong transcription	Primary B cells from cord blood	blood
8	chr16:70561400-70610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:70561600-70609000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr16:70561600-70609200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr16:70561600-70609600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr16:70561600-70609800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
13	chr16:70562200-70609600	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr16:70562800-70609000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:70563200-70609000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr16:70563200-70609600	Strong transcription	Primary T cells from cord blood	blood
17	chr16:70563200-70609800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:70563200-70610000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr16:70563400-70609000	Strong transcription	Brain Anterior Caudate	brain
20	chr16:70563400-70609800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:70563400-70610000	Strong transcription	A549	lung
22	chr16:70563600-70609600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:70563800-70610000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:70569400-70609000	Strong transcription	K562	blood
25	chr16:70570000-70609600	Strong transcription	Dnd41	blood
26	chr16:70574600-70609800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr16:70581200-70609600	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr16:70581600-70611400	Strong transcription	Brain Germinal Matrix	brain
29	chr16:70582400-70609000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:70587600-70609000	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr16:70588000-70609800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr16:70594000-70609000	Strong transcription	Gastric	stomach
33	chr16:70600600-70609000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:70600600-70609000	Strong transcription	Primary hematopoietic stem cells	blood
35	chr16:70603800-70611000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr16:70604400-70611000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:70604600-70609600	Genic enhancers	NH-A	brain
38	chr16:70604600-70609800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:70604600-70609800	Genic enhancers	HSMM	muscle
40	chr16:70604800-70609800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:70604800-70609800	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr16:70605200-70609600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr16:70605200-70610000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr16:70605200-70610000	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr16:70605200-70611400	Genic enhancers	Fetal Muscle Leg	muscle
46	chr16:70605400-70610000	Genic enhancers	Osteobl	bone
47	chr16:70605400-70610200	Genic enhancers	HSMMtube	muscle
48	chr16:70605800-70609600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr16:70605800-70609800	Genic enhancers	Spleen	Spleen
50	chr16:70606000-70609000	Genic enhancers	NHDF-Ad	bronchial

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