Variant report

Variant	rs7160523
Chromosome Location	chr14:55594560-55594561
allele	G/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	TBP	chr14:55593960-55594774	Hela-S3	cervix:	n/a	n/a
2	RFX5	chr14:55593810-55594726	Hela-S3	cervix:	n/a	chr14:55594520-55594534 chr14:55594521-55594537 chr14:55594522-55594536 chr14:55594523-55594532
3	POLR2A	chr14:55594211-55594728	U87	brain:	n/a	n/a
4	GTF2F1	chr14:55593871-55594664	Hela-S3	cervix:	n/a	n/a
5	USF2	chr14:55593851-55594651	Hela-S3	cervix:	n/a	n/a
6	TFAP2C	chr14:55593813-55594783	Hela-S3	cervix:	n/a	n/a
7	FOS	chr14:55594002-55594751	Hela-S3	cervix:	n/a	chr14:55594401-55594409 chr14:55594402-55594413 chr14:55594401-55594408
8	EP300	chr14:55593847-55594808	Hela-S3	cervix:	n/a	n/a
9	ZKSCAN1	chr14:55594380-55594702	Hela-S3	cervix:	n/a	n/a
10	MAZ	chr14:55594203-55594772	Hela-S3	cervix:	n/a	n/a
11	MAX	chr14:55594208-55594738	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr14:55593722-55594748	Hela-S3	cervix:	n/a	chr14:55594555-55594568
13	MAX	chr14:55593851-55594696	Hela-S3	cervix:	n/a	n/a
14	RCOR1	chr14:55593727-55594707	Hela-S3	cervix:	n/a	n/a
15	TFAP2A	chr14:55594083-55594774	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr14:55594068-55594630	Hela-S3	cervix:	n/a	n/a
17	MYC	chr14:55593897-55594694	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr14:55593861-55594672	Hela-S3	cervix:	n/a	n/a
19	EBF1	chr14:55594244-55594619	GM12878	blood:	n/a	chr14:55594431-55594442 chr14:55594432-55594441
20	PBX3	chr14:55594147-55594715	SK-N-SH	brain:	n/a	n/a
21	BRCA1	chr14:55593895-55594916	Hela-S3	cervix:	n/a	n/a
22	PRDM1	chr14:55594167-55594730	Hela-S3	cervix:	n/a	n/a
23	FOSL2	chr14:55594029-55594716	SK-N-SH	brain:	n/a	chr14:55594401-55594409 chr14:55594402-55594413 chr14:55594401-55594408
24	MAFK	chr14:55593841-55594704	Hela-S3	cervix:	n/a	n/a
25	JUND	chr14:55593806-55594747	Hela-S3	cervix:	n/a	chr14:55594401-55594409 chr14:55594402-55594413 chr14:55594401-55594408
26	RAD21	chr14:55593783-55594661	Hela-S3	cervix:	n/a	n/a
27	TCF7L2	chr14:55593892-55594701	Hela-S3	cervix:	n/a	n/a
28	STAT3	chr14:55593889-55594761	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr14:55594219-55594728	U87	brain:	n/a	n/a
30	CTCF	chr14:55594560-55594710	Caco-2	colon:	n/a	n/a
31	SMC3	chr14:55593799-55594711	Hela-S3	cervix:	n/a	n/a
32	TCF12	chr14:55594058-55594752	SK-N-SH	brain:	n/a	n/a
33	PBX3	chr14:55594090-55594735	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:55368311..55371330-chr14:55594542..55598408,4	MCF-7	breast:
2	chr14:55516981..55523073-chr14:55594365..55600344,10	MCF-7	breast:
3	chr14:55518259..55522048-chr14:55593067..55596290,3	K562	blood:
4	chr14:55517037..55520851-chr14:55594266..55601656,13	MCF-7	breast:

Variant related genes	Relation type
LGALS3	TF binding region
ENSG00000131979	Chromatin interaction
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1009977	0.89[CEU][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs1009978	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10131926	0.87[AMR][1000 genomes]
rs10134800	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10137409	0.91[EUR][1000 genomes]
rs10140801	0.81[CEU][hapmap];0.80[CHD][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap]
rs10140857	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs10141552	0.89[CEU][hapmap];0.85[TSI][hapmap]
rs10142823	0.80[AMR][1000 genomes]
rs10147667	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs10149435	0.91[EUR][1000 genomes]
rs10150699	0.84[AMR][1000 genomes]
rs10438127	0.91[EUR][1000 genomes]
rs10467798	0.88[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs1047556	0.91[EUR][1000 genomes]
rs1109170	0.89[ASW][hapmap];0.92[CEU][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs11621351	0.91[EUR][1000 genomes]
rs11622740	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs11625001	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs11628437	0.92[CEU][hapmap]
rs13379169	0.81[AMR][1000 genomes]
rs15870	0.91[EUR][1000 genomes]
rs17128183	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17740741	0.85[CEU][hapmap]
rs17832359	0.91[EUR][1000 genomes]
rs1815316	0.91[EUR][1000 genomes]
rs1952087	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2075601	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2075602	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2075603	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs2094102	0.94[EUR][1000 genomes]
rs2147964	1.00[YRI][hapmap]
rs2147972	0.91[EUR][1000 genomes]
rs2274273	0.89[CEU][hapmap];0.90[TSI][hapmap]
rs2340921	1.00[YRI][hapmap]
rs2340931	0.92[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2341621	0.88[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs2341622	0.89[ASW][hapmap];0.85[CEU][hapmap];0.83[GIH][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs28429419	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3818451	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3825613	0.89[CEU][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs4644	0.85[CEU][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs4652	0.90[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56660630	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57970196	0.91[EUR][1000 genomes]
rs60972460	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61508494	0.94[EUR][1000 genomes]
rs6573005	0.94[EUR][1000 genomes]
rs6573006	0.94[EUR][1000 genomes]
rs6573007	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6573009	1.00[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6573010	0.84[AMR][1000 genomes]
rs6573013	0.89[ASW][hapmap];0.89[CEU][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs6573014	0.89[ASW][hapmap];0.89[CEU][hapmap];0.85[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs66871576	0.91[EUR][1000 genomes]
rs67098772	0.91[EUR][1000 genomes]
rs67756714	0.91[EUR][1000 genomes]
rs67805055	0.91[EUR][1000 genomes]
rs7140872	0.91[EUR][1000 genomes]
rs7142704	0.92[EUR][1000 genomes]
rs7142857	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7144292	0.87[AMR][1000 genomes]
rs7146752	0.81[AMR][1000 genomes]
rs7147106	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7158768	0.89[ASW][hapmap];0.92[CEU][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs7159808	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7160110	0.89[CEU][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs72718804	0.89[EUR][1000 genomes]
rs7493394	0.91[EUR][1000 genomes]
rs8004787	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8007614	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[TSI][hapmap];0.92[EUR][1000 genomes]
rs8007620	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[EUR][1000 genomes]
rs8007944	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8009670	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8011834	0.94[EUR][1000 genomes]
rs8013027	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs8018110	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8019978	1.00[YRI][hapmap]
rs8021583	0.92[CEU][hapmap]
rs8023197	0.92[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7160523	WDHD1	cis	parietal	SCAN
rs7160523	FBXO34	cis	cerebellum	SCAN
rs7160523	ATG14	cis	parietal	SCAN
rs7160523	RP11-665C16.6	cis	Muscle Skeletal	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55570000-55594800	Enhancers	Fetal Intestine Large	intestine
2	chr14:55577600-55594800	Enhancers	Fetal Intestine Small	intestine
3	chr14:55582200-55595600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:55587000-55595600	Enhancers	Stomach Mucosa	stomach
5	chr14:55587600-55595600	Enhancers	Fetal Heart	heart
6	chr14:55589600-55594600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:55589800-55595600	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:55590000-55595400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:55590000-55595600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:55590000-55595600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:55590200-55595800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:55590400-55595000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:55590400-55595600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:55590800-55596200	Weak transcription	Fetal Lung	lung
15	chr14:55591600-55595400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:55591600-55595400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr14:55591600-55595600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:55591800-55595000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:55592400-55595400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:55592400-55595600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:55592400-55595600	Weak transcription	K562	blood
22	chr14:55592600-55595400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:55592600-55595600	Weak transcription	Placenta	Placenta
24	chr14:55592600-55595600	Weak transcription	Gastric	stomach
25	chr14:55592600-55595800	Weak transcription	Spleen	Spleen
26	chr14:55592800-55595000	Weak transcription	Right Ventricle	heart
27	chr14:55592800-55595200	Weak transcription	Lung	lung
28	chr14:55592800-55595600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:55593000-55595400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:55593000-55595600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:55593000-55595600	Weak transcription	Esophagus	oesophagus
32	chr14:55593000-55596400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr14:55593200-55595200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:55593200-55595600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:55593200-55595600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:55593200-55595600	Weak transcription	Colonic Mucosa	Colon
37	chr14:55593200-55595600	Weak transcription	Small Intestine	intestine
38	chr14:55593200-55597800	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr14:55593600-55595000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:55593600-55595400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:55593600-55595600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr14:55593600-55595600	Weak transcription	Ovary	ovary
43	chr14:55593600-55595600	Weak transcription	Right Atrium	heart
44	chr14:55593600-55595600	Enhancers	Osteobl	bone
45	chr14:55593800-55594600	Enhancers	NHDF-Ad	bronchial
46	chr14:55593800-55595200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:55593800-55595400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr14:55593800-55595400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:55593800-55595400	Enhancers	HMEC	breast
50	chr14:55593800-55595400	Enhancers	NHEK	skin

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