Variant report

Variant	rs4284632
Chromosome Location	chr16:70606555-70606556
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70606329-70607020	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:70605969-70608018	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:70606056-70606575	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:70606482-70606977	K562	blood:	n/a	n/a
5	POLR2A	chr16:70605504-70611628	K562	blood:	n/a	n/a
6	POLR2A	chr16:70605669-70607070	K562	blood:	n/a	n/a
7	POLR2A	chr16:70605539-70612779	K562	blood:	n/a	n/a
8	POLR2A	chr16:70606080-70607086	K562	blood:	n/a	n/a
9	POLR2A	chr16:70605926-70607079	HL-60	blood:	n/a	n/a
10	POLR2A	chr16:70605962-70608025	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr16:70606395-70608623	K562	blood:	n/a	n/a
12	POLR2A	chr16:70605726-70607983	K562	blood:	n/a	n/a
13	POLR2A	chr16:70606497-70606696	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr16:70606433-70607911	Hela-S3	cervix:	n/a	n/a
15	GATA2	chr16:70606058-70608037	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr16:70605676-70608076	K562	blood:	n/a	n/a
17	POLR2A	chr16:70606554-70608349	U87	brain:	n/a	n/a
18	POLR2A	chr16:70606088-70609006	HepG2	liver:	n/a	n/a
19	POLR2A	chr16:70606450-70607106	GM12892	blood:	n/a	n/a
20	POLR2A	chr16:70606313-70607993	HepG2	liver:	n/a	n/a
21	POLR2A	chr16:70605830-70608006	GM12891	blood:	n/a	n/a
22	POLR2A	chr16:70605838-70606567	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr16:70606148-70607151	K562	blood:	n/a	n/a
24	POLR2A	chr16:70606538-70608180	U87	brain:	n/a	n/a
25	POLR2A	chr16:70605611-70607075	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr16:70606285-70606844	HepG2	liver:	n/a	n/a
27	POLR2A	chr16:70606134-70608011	GM12878	blood:	n/a	n/a
28	POLR2A	chr16:70606485-70607323	GM12892	blood:	n/a	n/a
29	POLR2A	chr16:70603398-70612236	HepG2	liver:	n/a	n/a
30	POLR2A	chr16:70605757-70608578	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr16:70606411-70607070	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr16:70605764-70607152	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:70556571..70559588-chr16:70605085..70607867,3	MCF-7	breast:
2	chr16:70604065..70607054-chr16:70608889..70610552,2	K562	blood:
3	chr16:70603041..70604575-chr16:70605082..70606614,2	MCF-7	breast:
4	chr16:70601244..70603695-chr16:70604448..70607649,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260023	TF binding region
ENSG00000260023	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10852465	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11075767	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11075768	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11075769	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11075770	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11075772	0.82[EUR][1000 genomes]
rs11640374	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs11641683	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11643344	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11643373	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11643823	0.92[EUR][1000 genomes]
rs11645092	0.92[EUR][1000 genomes]
rs11645214	0.96[CEU][hapmap];0.80[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11645287	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs11645437	1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11645585	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11648402	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11649624	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11865527	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11866400	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12447090	0.91[JPT][hapmap]
rs12597401	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12909	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12925729	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12931402	0.90[EUR][1000 genomes]
rs12933634	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2168606	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2288491	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2303792	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2303793	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs33910368	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34567847	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34890962	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3762171	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3859068	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4324119	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4436771	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4513092	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4592653	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs58963621	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6499320	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6499321	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71401814	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7194521	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7195030	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7197262	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7197840	0.97[EUR][1000 genomes]
rs7198317	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs7199859	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7200430	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7201750	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7204583	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs722579	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7919	0.95[JPT][hapmap]
rs8045651	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8046881	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8047409	0.82[AMR][1000 genomes]
rs8049641	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8049786	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8051506	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8052031	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8052125	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8053436	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8057610	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8062178	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]
rs8062183	1.00[JPT][hapmap]
rs8063990	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8064013	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs936994	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs9635522	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9929904	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9934440	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs9936225	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4284632	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs4284632	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs4284632	RP11-296I10.6	cis	Thyroid	GTEx
rs4284632	RP11-296I10.6	cis	Artery Tibial	GTEx
rs4284632	RP11-296I10.6	cis	Nerve Tibial	GTEx
rs4284632	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx
rs4284632	LOC283970	cis	multi-tissue	Pritchard
rs4284632	RP11-419C5.2	cis	Muscle Skeletal	GTEx
rs4284632	CLEC18A	cis	Artery Aorta	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70560400-70607800	Strong transcription	Rectal Mucosa Donor 29	rectum
2	chr16:70560600-70609600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr16:70560800-70608800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr16:70561000-70608800	Strong transcription	Fetal Thymus	thymus
5	chr16:70561000-70609000	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr16:70561000-70609400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr16:70561000-70610000	Strong transcription	Thymus	Thymus
8	chr16:70561200-70609400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr16:70561200-70609600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr16:70561400-70607600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr16:70561400-70609000	Strong transcription	Primary B cells from cord blood	blood
12	chr16:70561400-70610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:70561600-70609000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr16:70561600-70609200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr16:70561600-70609600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr16:70561600-70609800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
17	chr16:70562200-70609600	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr16:70562800-70608800	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr16:70562800-70609000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:70563200-70606600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:70563200-70609000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr16:70563200-70609600	Strong transcription	Primary T cells from cord blood	blood
23	chr16:70563200-70609800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:70563200-70610000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr16:70563400-70608400	Strong transcription	Fetal Brain Female	brain
26	chr16:70563400-70609000	Strong transcription	Brain Anterior Caudate	brain
27	chr16:70563400-70609800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:70563400-70610000	Strong transcription	A549	lung
29	chr16:70563600-70607400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr16:70563600-70608200	Strong transcription	HepG2	liver
31	chr16:70563600-70609600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:70563800-70608600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr16:70563800-70610000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr16:70564000-70607800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr16:70564600-70608800	Strong transcription	Hela-S3	cervix
36	chr16:70566800-70608000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr16:70569400-70609000	Strong transcription	K562	blood
38	chr16:70570000-70609600	Strong transcription	Dnd41	blood
39	chr16:70570400-70608600	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr16:70570800-70606600	Strong transcription	Colonic Mucosa	Colon
41	chr16:70571000-70608200	Strong transcription	GM12878-XiMat	blood
42	chr16:70571600-70607000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr16:70574600-70609800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr16:70574800-70607800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr16:70577600-70606600	Strong transcription	Brain Substantia Nigra	brain
46	chr16:70578000-70608400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr16:70581200-70609600	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr16:70581600-70611400	Strong transcription	Brain Germinal Matrix	brain
49	chr16:70581800-70608000	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr16:70582400-70609000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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