Variant report

Variant	rs8062178
Chromosome Location	chr16:70611232-70611233
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:114)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:114 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70610837-70611584	HUVEC	blood vessel:	n/a	n/a
2	RXRA	chr16:70611083-70611657	SK-N-SH	brain:	n/a	n/a
3	BCL3	chr16:70610085-70611757	A549	lung:	n/a	n/a
4	MTA3	chr16:70611172-70611507	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:70609386-70611569	GM12878	blood:	n/a	n/a
6	NFIC	chr16:70610973-70611769	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr16:70609314-70611763	U87	brain:	n/a	n/a
8	POLR2A	chr16:70609327-70611564	GM12878	blood:	n/a	n/a
9	POLR2A	chr16:70609234-70611733	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr16:70610186-70611565	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr16:70610241-70611424	K562	blood:	n/a	n/a
12	POLR2A	chr16:70610269-70611603	ECC-1	luminal epithelium:	n/a	n/a
13	MTA3	chr16:70609736-70611571	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:70609201-70611753	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr16:70610861-70611565	GM12878	blood:	n/a	n/a
16	POLR2A	chr16:70609298-70611270	HepG2	liver:	n/a	n/a
17	RFX5	chr16:70611012-70611524	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr16:70610181-70611462	GM12892	blood:	n/a	n/a
19	POLR2A	chr16:70605504-70611628	K562	blood:	n/a	n/a
20	FOS	chr16:70610911-70611562	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT5A	chr16:70610932-70611701	GM12878	blood:	n/a	n/a
22	FOS	chr16:70611225-70611401	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr16:70609387-70611494	K562	blood:	n/a	n/a
24	JUND	chr16:70610199-70611695	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr16:70611174-70611468	A549	lung:	n/a	n/a
26	POLR2A	chr16:70610216-70611590	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr16:70610819-70611464	GM12878	blood:	n/a	n/a
28	POLR2A	chr16:70609324-70611432	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr16:70610217-70611709	U87	brain:	n/a	n/a
30	POLR2A	chr16:70605539-70612779	K562	blood:	n/a	n/a
31	CEBPB	chr16:70610843-70611276	A549	lung:	n/a	chr16:70610981-70610992
32	POLR2A	chr16:70609370-70614299	A549	lung:	n/a	n/a
33	POLR2A	chr16:70609152-70611557	GM12892	blood:	n/a	n/a
34	POLR2A	chr16:70611108-70611361	GM12891	blood:	n/a	n/a
35	FOSL2	chr16:70609219-70611487	HepG2	liver:	n/a	n/a
36	POLR2A	chr16:70610242-70611633	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr16:70609264-70611690	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr16:70609382-70611390	K562	blood:	n/a	n/a
39	POLR2A	chr16:70609319-70611603	HL-60	blood:	n/a	n/a
40	POLR2A	chr16:70609293-70611676	SK-N-SH	brain:	n/a	n/a
41	MAZ	chr16:70610833-70611739	IMR90	lung:	n/a	n/a
42	POLR2A	chr16:70610193-70611609	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr16:70610329-70611399	GM18951	blood:	n/a	n/a
44	TEAD4	chr16:70611218-70611645	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr16:70609320-70611757	U87	brain:	n/a	n/a
46	EGR1	chr16:70611195-70611374	K562	blood:	n/a	n/a
47	JUND	chr16:70610949-70611518	A549	lung:	n/a	n/a
48	BCL3	chr16:70610067-70611604	K562	blood:	n/a	n/a
49	NFATC1	chr16:70610056-70611250	GM12878	blood:	n/a	n/a
50	MYC	chr16:70610321-70611598	MCF10A-Er-Src	breast:	n/a	chr16:70610459-70610468 chr16:70610454-70610473 chr16:70610558-70610567 chr16:70610459-70610466 chr16:70610458-70610469

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70607368..70609448-chr16:70611142..70612742,2	K562	blood:
2	chr16:70607368..70609264-chr16:70610510..70612742,2	K562	blood:
3	chr16:70601596..70604589-chr16:70610308..70612754,2	MCF-7	breast:
4	chr16:70610457..70612754-chr16:70614831..70616997,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SF3B3-1	chr16:70611221-70611571	ENSG00000260023.1

No data

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

Extended variants
information (count: 81 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10852465	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11075767	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11075768	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11075769	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11075770	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11075772	0.82[EUR][1000 genomes]
rs11640374	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs11641683	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11643344	0.94[ASN][1000 genomes]
rs11643373	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11643823	0.92[EUR][1000 genomes]
rs11645092	0.92[EUR][1000 genomes]
rs11645214	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs11645287	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs11645437	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11645585	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11648402	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11649624	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11865527	0.94[ASN][1000 genomes]
rs11866400	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12447090	0.91[JPT][hapmap]
rs12597401	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12909	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12925729	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12931402	0.89[EUR][1000 genomes]
rs12933634	0.82[ASN][1000 genomes]
rs2168606	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2288491	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2303792	0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2303793	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs33910368	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34567847	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34890962	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3762171	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3852695	0.92[YRI][hapmap]
rs4284632	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4324119	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4436771	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4513092	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4592653	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs58963621	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6499320	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6499321	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6499327	0.82[YRI][hapmap]
rs71401814	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7190039	0.80[AMR][1000 genomes]
rs7194521	0.83[ASN][1000 genomes]
rs7195030	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7197262	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7197840	0.92[EUR][1000 genomes]
rs7198317	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs7199859	0.85[ASN][1000 genomes]
rs7200430	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7201750	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7204583	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs722579	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7919	0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap]
rs8045651	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8046881	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8047409	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8049221	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8049641	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8049786	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8051506	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8052031	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8052125	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8053436	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs8057610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8057766	1.00[YRI][hapmap]
rs8062183	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs8063990	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8064013	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs891138	0.86[YRI][hapmap]
rs936994	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs9635522	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9921696	0.92[YRI][hapmap]
rs9924352	0.85[YRI][hapmap]
rs9925510	0.96[YRI][hapmap]
rs9929904	0.85[ASN][1000 genomes]
rs9934440	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs9936225	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8062178	CLEC18A	cis	Artery Aorta	GTEx
rs8062178	RP11-296I10.6	cis	Artery Tibial	GTEx
rs8062178	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs8062178	LOC283970	cis	multi-tissue	Pritchard
rs8062178	CLEC18C	cis	Whole Blood	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70581600-70611400	Strong transcription	Brain Germinal Matrix	brain
2	chr16:70605200-70611400	Genic enhancers	Fetal Muscle Leg	muscle
3	chr16:70607000-70611400	Weak transcription	Brain Substantia Nigra	brain
4	chr16:70607000-70613200	Weak transcription	Stomach Mucosa	stomach
5	chr16:70607600-70615400	Weak transcription	Fetal Heart	heart
6	chr16:70607800-70612800	Weak transcription	Brain Hippocampus Middle	brain
7	chr16:70608000-70613400	Weak transcription	Right Ventricle	heart
8	chr16:70608000-70624600	Weak transcription	Pancreas	Pancrea
9	chr16:70608200-70613200	Weak transcription	HepG2	liver
10	chr16:70608400-70612600	Weak transcription	Fetal Brain Female	brain
11	chr16:70608400-70613400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:70608400-70613600	Weak transcription	Ovary	ovary
13	chr16:70608600-70613200	Weak transcription	Left Ventricle	heart
14	chr16:70608600-70613400	Weak transcription	Esophagus	oesophagus
15	chr16:70608600-70613800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:70608800-70616000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr16:70609000-70612000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr16:70609000-70612400	Enhancers	NHDF-Ad	bronchial
19	chr16:70609000-70613200	Weak transcription	K562	blood
20	chr16:70609000-70613600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:70609000-70613800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr16:70609000-70613800	Weak transcription	Gastric	stomach
23	chr16:70609000-70628000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr16:70609600-70611400	Enhancers	Fetal Thymus	thymus
25	chr16:70609600-70611400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr16:70609600-70611400	Enhancers	Hela-S3	cervix
27	chr16:70609600-70611600	Enhancers	Adipose Nuclei	Adipose
28	chr16:70609600-70611600	Enhancers	HUVEC	blood vessel
29	chr16:70609600-70612000	Weak transcription	Primary T cells from cord blood	blood
30	chr16:70609600-70612200	Enhancers	NH-A	brain
31	chr16:70609600-70613400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr16:70609600-70613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr16:70609600-70613800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr16:70609600-70614000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:70609800-70611400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:70609800-70611600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr16:70609800-70611600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:70609800-70611600	Enhancers	NHLF	lung
39	chr16:70609800-70612000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:70609800-70612200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:70609800-70612200	Enhancers	HSMM	muscle
42	chr16:70609800-70612400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:70609800-70612600	Enhancers	HMEC	breast
44	chr16:70609800-70613200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr16:70609800-70616200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr16:70609800-70623800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr16:70610000-70611400	Enhancers	Colonic Mucosa	Colon
48	chr16:70610000-70611400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr16:70610000-70611400	Enhancers	Fetal Muscle Trunk	muscle
50	chr16:70610000-70611600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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