Variant report

Variant	rs4436771
Chromosome Location	chr16:70594938-70594939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70594301-70595435	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:70593747-70595034	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr16:70594347-70594973	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:70594132-70595011	K562	blood:	n/a	n/a
5	POLR2A	chr16:70594930-70595288	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70594721..70597473-chr16:70602583..70604589,2	K562	blood:
2	chr16:70593917..70595808-chr16:70601823..70604474,2	MCF-7	breast:
3	chr16:70568556..70572710-chr16:70594713..70598867,4	K562	blood:
4	chr16:70593728..70595630-chr16:70595765..70597995,2	K562	blood:
5	chr16:70558865..70562951-chr16:70591784..70595478,3	MCF-7	breast:

No data

Variant related genes	Relation type
SF3B3	TF binding region
ENSG00000189091	Chromatin interaction
ENSG00000221066	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10852465	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11075767	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11075768	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11075769	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11075770	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11075772	0.82[EUR][1000 genomes]
rs11640374	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs11641683	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11643344	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11643373	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11643823	0.93[EUR][1000 genomes]
rs11645092	0.93[EUR][1000 genomes]
rs11645214	0.96[CEU][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs11645287	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs11645437	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11645585	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11648402	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11649624	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11865527	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11866400	0.96[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12447090	0.83[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs12597401	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12909	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12925729	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12931402	0.90[EUR][1000 genomes]
rs12933634	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2168606	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2288491	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2303791	0.88[MEX][hapmap]
rs2303792	0.87[ASW][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2303793	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs33910368	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34567847	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34890962	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3762171	0.93[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3859068	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4277334	0.81[EUR][1000 genomes]
rs4284632	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]
rs4324119	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4513092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4592653	0.96[CEU][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4985533	0.82[CHD][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap]
rs4985534	0.88[MEX][hapmap];0.81[TSI][hapmap]
rs58963621	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6499320	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6499321	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71401814	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7190039	0.88[MEX][hapmap];0.81[TSI][hapmap]
rs7192865	0.80[LWK][hapmap]
rs7194521	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7195030	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7197262	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7197840	0.97[EUR][1000 genomes]
rs7198317	0.80[ASW][hapmap];0.96[CEU][hapmap];0.84[LWK][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes]
rs7199859	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7200430	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7201750	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7204583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs722579	0.86[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7919	0.83[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs8045651	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8046881	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8049641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8049786	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8051506	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8052031	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8052125	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8053436	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.84[MEX][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8057610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8058224	0.89[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs8062178	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]
rs8062183	0.89[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs8063990	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8064013	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs936994	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs9635522	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9929904	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9934440	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs9936225	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs4436771	RP11-296I10.6	cis	Thyroid	GTEx
rs4436771	TMCO7	cis	parietal	SCAN
rs4436771	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs4436771	CLEC18A	cis	Whole Blood	GTEx
rs4436771	RP11-296I10.6	cis	Artery Tibial	GTEx
rs4436771	SF3B3	cis	parietal	SCAN
rs4436771	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs4436771	WWP2	cis	parietal	SCAN
rs4436771	IL34	cis	parietal	SCAN
rs4436771	C16orf86	cis	cerebellum	SCAN
rs4436771	EXOSC6	cis	cerebellum	SCAN
rs4436771	SF3B3	cis	cerebellum	SCAN
rs4436771	PDPR	cis	parietal	SCAN
rs4436771	RP11-296I10.6	cis	Nerve Tibial	GTEx
rs4436771	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx
rs4436771	CLEC18A	cis	Artery Aorta	GTEx
rs4436771	PDPR	cis	cerebellum	SCAN
rs4436771	WWP2	cis	cerebellum	SCAN
rs4436771	RP11-296I10.6	cis	Muscle Skeletal	GTEx
rs4436771	EXOSC6	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70559400-70606200	Strong transcription	Fetal Stomach	stomach
2	chr16:70560400-70605200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr16:70560400-70605600	Strong transcription	Placenta	Placenta
4	chr16:70560400-70607800	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr16:70560600-70598800	Strong transcription	Stomach Smooth Muscle	stomach
6	chr16:70560600-70609600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr16:70560800-70608800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr16:70561000-70605200	Strong transcription	Fetal Muscle Leg	muscle
9	chr16:70561000-70608800	Strong transcription	Fetal Thymus	thymus
10	chr16:70561000-70609000	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr16:70561000-70609400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr16:70561000-70610000	Strong transcription	Thymus	Thymus
13	chr16:70561200-70602000	Strong transcription	Fetal Intestine Large	intestine
14	chr16:70561200-70609400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr16:70561200-70609600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr16:70561400-70605200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr16:70561400-70607600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr16:70561400-70609000	Strong transcription	Primary B cells from cord blood	blood
19	chr16:70561400-70610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:70561600-70609000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr16:70561600-70609200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr16:70561600-70609600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr16:70561600-70609800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
24	chr16:70562200-70609600	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr16:70562800-70608800	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr16:70562800-70609000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:70563000-70606400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:70563200-70602200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:70563200-70605200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:70563200-70605800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:70563200-70606600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr16:70563200-70609000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr16:70563200-70609600	Strong transcription	Primary T cells from cord blood	blood
34	chr16:70563200-70609800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:70563200-70610000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr16:70563400-70608400	Strong transcription	Fetal Brain Female	brain
37	chr16:70563400-70609000	Strong transcription	Brain Anterior Caudate	brain
38	chr16:70563400-70609800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:70563400-70610000	Strong transcription	A549	lung
40	chr16:70563600-70607400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr16:70563600-70608200	Strong transcription	HepG2	liver
42	chr16:70563600-70609600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr16:70563800-70595600	Strong transcription	Liver	Liver
44	chr16:70563800-70606200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr16:70563800-70608600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr16:70563800-70610000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr16:70564000-70607800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr16:70564400-70595200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr16:70564600-70608800	Strong transcription	Hela-S3	cervix
50	chr16:70566800-70608000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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