Variant report

Variant	rs3763070
Chromosome Location	chr5:89768989-89768990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr5:89768418-89769702	GM12878	blood:	n/a	chr5:89768782-89768797
2	KAP1	chr5:89768970-89771055	HEK293	kidney:	n/a	n/a
3	TBP	chr5:89768894-89771288	Hela-S3	cervix:	n/a	n/a
4	MAFF	chr5:89768570-89769270	K562	blood:	n/a	chr5:89768780-89768798
5	USF2	chr5:89768963-89769561	Hela-S3	cervix:	n/a	n/a
6	HEY1	chr5:89768926-89769657	K562	blood:	n/a	n/a
7	MAFK	chr5:89768596-89769238	HepG2	liver:	n/a	chr5:89768782-89768797
8	BRCA1	chr5:89768969-89769720	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr5:89768908-89771346	MCF10A-Er-Src	breast:	n/a	n/a
10	TCF7L2	chr5:89768971-89770924	Hela-S3	cervix:	n/a	n/a
11	CUX1	chr5:89768552-89769386	K562	blood:	n/a	n/a
12	POLR2A	chr5:89768952-89770824	K562	blood:	n/a	n/a
13	STAT3	chr5:89768930-89769489	MCF10A-Er-Src	breast:	n/a	n/a
14	RFX5	chr5:89768853-89769400	Hela-S3	cervix:	n/a	n/a
15	TAF1	chr5:89768984-89771007	H1-hESC	embryonic stem cell:	n/a	n/a
16	MYC	chr5:89768858-89771510	MCF10A-Er-Src	breast:	n/a	chr5:89770655-89770665 chr5:89770897-89770908 chr5:89770234-89770244 chr5:89770899-89770906 chr5:89770897-89770907
17	MTA3	chr5:89768971-89769571	GM12878	blood:	n/a	n/a
18	MAZ	chr5:89768906-89771043	K562	blood:	n/a	chr5:89770655-89770665 chr5:89770897-89770908 chr5:89770234-89770244 chr5:89770899-89770906 chr5:89770897-89770907
19	POLR2A	chr5:89768886-89771418	MCF10A-Er-Src	breast:	n/a	n/a
20	HCFC1	chr5:89768678-89771042	Hela-S3	cervix:	n/a	n/a
21	SIN3A	chr5:89768948-89771598	H1-hESC	embryonic stem cell:	n/a	chr5:89770681-89770695
22	POLR2A	chr5:89768986-89770970	GM12878	blood:	n/a	n/a
23	MAFK	chr5:89768571-89769433	Hela-S3	cervix:	n/a	chr5:89768782-89768797
24	POLR2A	chr5:89768788-89771212	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAFK	chr5:89768477-89769332	IMR90	lung:	n/a	chr5:89768782-89768797
26	TBP	chr5:89768975-89771218	K562	blood:	n/a	n/a
27	POLR2A	chr5:89768949-89771139	SK-N-MC	brain:	n/a	n/a
28	POLR2A	chr5:89768944-89771169	GM12891	blood:	n/a	n/a
29	CHD2	chr5:89768969-89770943	Hela-S3	cervix:	n/a	n/a
30	FOS	chr5:89768983-89769351	MCF10A-Er-Src	breast:	n/a	n/a
31	MAFK	chr5:89768562-89769329	H1-hESC	embryonic stem cell:	n/a	chr5:89768782-89768797
32	POLR2A	chr5:89768984-89768994	K562	blood:	n/a	n/a
33	CEBPB	chr5:89768896-89769739	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr5:89768861-89771056	HepG2	liver:	n/a	n/a
35	MAFK	chr5:89768455-89769266	K562	blood:	n/a	chr5:89768782-89768797
36	JUN	chr5:89768908-89769304	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr5:89768970-89771090	K562	blood:	n/a	chr5:89770655-89770665 chr5:89770897-89770908 chr5:89770234-89770244 chr5:89770899-89770906 chr5:89770897-89770907
38	POLR2A	chr5:89768978-89770956	Hela-S3	cervix:	n/a	n/a
39	UBTF	chr5:89768891-89771163	K562	blood:	n/a	n/a
40	MAFK	chr5:89768600-89768989	HepG2	liver:	n/a	chr5:89768782-89768797
41	MXI1	chr5:89768492-89771313	SK-N-SH	brain:	n/a	chr5:89770897-89770906
42	SMC3	chr5:89768935-89771160	Hela-S3	cervix:	n/a	chr5:89770350-89770357
43	SIN3AK20	chr5:89768906-89771156	MCF-7	breast:	n/a	n/a
44	MAX	chr5:89768840-89771219	Hela-S3	cervix:	n/a	chr5:89770655-89770665 chr5:89770897-89770908 chr5:89770234-89770244 chr5:89770899-89770906 chr5:89770897-89770907
45	MAFF	chr5:89768559-89769386	HepG2	liver:	n/a	chr5:89768780-89768798

No.	Distal block	Cell Line	Cell type
1	chr5:89768855..89773751-chr5:89822671..89829297,12	K562	blood:
2	chr5:89702524..89708084-chr5:89764247..89773389,22	K562	blood:
3	chr5:89767818..89772796-chr5:89823286..89827702,11	MCF-7	breast:
4	chr5:89768685..89771799-chr5:89852676..89855842,6	MCF-7	breast:
5	chr5:89768584..89771978-chr5:90675764..90678297,3	K562	blood:
6	chr5:89768691..89773005-chr5:89822332..89827140,9	MCF-7	breast:
7	chr5:89766469..89774126-chr5:89823341..89829105,11	K562	blood:
8	chr5:89764343..89768380-chr5:89768675..89771583,10	MCF-7	breast:
9	chr5:89701553..89708894-chr5:89768084..89771807,14	K562	blood:
10	chr5:89703543..89706963-chr5:89767513..89771420,6	MCF-7	breast:

Variant related genes	Relation type
POLR3G	TF binding region
ENSG00000113356	Chromatin interaction
ENSG00000255647	Chromatin interaction
ENSG00000176018	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000164199	Chromatin interaction
ENSG00000153140	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10041220	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10043702	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10214167	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10473934	1.00[CEU][hapmap];0.98[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10942593	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10942594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11953207	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956418	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12516555	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13436287	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2303801	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28728101	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28815472	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914674	0.84[JPT][hapmap]
rs34397682	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3763072	0.90[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3805478	0.95[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59742368	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61610742	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6864062	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6867534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889253	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6889947	1.00[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6890115	1.00[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7729481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7730433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732363	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293541	0.90[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv518131	chr5:89748142-89781594	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv882364	chr5:89748142-89808531	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3763070	MBLAC2	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89734600-89769000	Weak transcription	Pancreas	Pancrea
2	chr5:89749200-89769000	Weak transcription	Left Ventricle	heart
3	chr5:89751200-89769000	Weak transcription	Spleen	Spleen
4	chr5:89752000-89769200	Weak transcription	Small Intestine	intestine
5	chr5:89755400-89769000	Weak transcription	HSMM	muscle
6	chr5:89758000-89769200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:89766400-89769000	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:89767000-89769000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr5:89767200-89769000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:89767200-89769000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr5:89767400-89769000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:89767400-89769000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr5:89767400-89769000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:89767800-89769000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:89767800-89769000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:89767800-89769200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr5:89768200-89769000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr5:89768200-89771400	Active TSS	GM12878-XiMat	blood
19	chr5:89768400-89769000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:89768400-89769000	Active TSS	Fetal Brain Male	brain
21	chr5:89768400-89769400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:89768400-89769400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr5:89768400-89769400	Flanking Active TSS	NHEK	skin
24	chr5:89768400-89770200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:89768400-89770400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr5:89768400-89771200	Active TSS	Brain Angular Gyrus	brain
27	chr5:89768600-89769000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr5:89768600-89769000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:89768600-89769000	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr5:89768600-89769000	Enhancers	Fetal Thymus	thymus
31	chr5:89768600-89769000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr5:89768600-89769000	Enhancers	HUVEC	blood vessel
33	chr5:89768600-89769200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr5:89768600-89769200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:89768600-89769200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr5:89768600-89769200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:89768600-89769200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:89768600-89769200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:89768600-89769400	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr5:89768600-89769400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr5:89768600-89769400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr5:89768600-89769400	Flanking Active TSS	Hela-S3	cervix
43	chr5:89768600-89769600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:89768600-89769600	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr5:89768600-89769600	Flanking Active TSS	Fetal Lung	lung
46	chr5:89768600-89769600	Flanking Active TSS	Dnd41	blood
47	chr5:89768600-89770000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:89768600-89770000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:89768600-89770800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:89768600-89771200	Flanking Active TSS	Stomach Smooth Muscle	stomach

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