Variant report

Variant	rs10889356
Chromosome Location	chr1:63155349-63155350
allele	A/G
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	ARID3A	chr1:63155138-63157154	HepG2	liver:	n/a	n/a
2	STAT3	chr1:63155148-63155519	Hela-S3	cervix:	n/a	n/a
3	FOS	chr1:63155001-63155594	MCF10A-Er-Src	breast:	n/a	chr1:63155301-63155312
4	FOXA1	chr1:63155155-63155677	HepG2	liver:	n/a	chr1:63155171-63155183 chr1:63155374-63155386
5	JUN	chr1:63155083-63155502	HUVEC	blood vessel:	n/a	n/a
6	MYC	chr1:63154966-63155479	MCF10A-Er-Src	breast:	n/a	n/a
7	JUND	chr1:63155214-63155454	HepG2	liver:	n/a	chr1:63155301-63155312
8	POLR2A	chr1:63155170-63155890	HepG2	liver:	n/a	n/a
9	NFIC	chr1:63155080-63155642	HepG2	liver:	n/a	n/a
10	EP300	chr1:63155082-63155538	Hela-S3	cervix:	n/a	n/a
11	RFX5	chr1:63155311-63156646	HepG2	liver:	n/a	n/a
12	MBD4	chr1:63155111-63155686	HepG2	liver:	n/a	n/a
13	MAFK	chr1:63155040-63155378	HepG2	liver:	n/a	n/a
14	FOS	chr1:63154348-63155632	MCF10A-Er-Src	breast:	n/a	chr1:63155301-63155312 chr1:63154383-63154392
15	RAD21	chr1:63155215-63155649	Hela-S3	cervix:	n/a	n/a
16	HDAC2	chr1:63155139-63155475	HepG2	liver:	n/a	n/a
17	FOSL1	chr1:63154985-63155640	HCT-116	colon:	n/a	n/a
18	CEBPB	chr1:63155222-63155745	HepG2	liver:	n/a	n/a
19	FOXA1	chr1:63155171-63155703	HepG2	liver:	n/a	chr1:63155171-63155183 chr1:63155374-63155386
20	HEY1	chr1:63155160-63155363	HepG2	liver:	n/a	n/a
21	TBP	chr1:63155248-63156435	HepG2	liver:	n/a	n/a
22	FOXA1	chr1:63155098-63155700	HepG2	liver:	n/a	chr1:63155171-63155183 chr1:63155374-63155386
23	FOSL2	chr1:63155174-63155572	HepG2	liver:	n/a	n/a
24	FOXA2	chr1:63155186-63155720	HepG2	liver:	n/a	chr1:63155374-63155386
25	RCOR1	chr1:63155269-63155668	HepG2	liver:	n/a	n/a
26	FOSL2	chr1:63155195-63155486	HepG2	liver:	n/a	n/a
27	MXI1	chr1:63154947-63156984	IMR90	lung:	n/a	n/a
28	FOS	chr1:63155113-63155492	MCF10A-Er-Src	breast:	n/a	chr1:63155301-63155312
29	JUND	chr1:63155143-63155528	HepG2	liver:	n/a	chr1:63155301-63155312
30	POLR2A	chr1:63155158-63155500	SK-N-SH	brain:	n/a	n/a
31	JUND	chr1:63154960-63155628	HCT-116	colon:	n/a	chr1:63155301-63155312
32	FOS	chr1:63155018-63155518	MCF10A-Er-Src	breast:	n/a	chr1:63155301-63155312
33	JUN	chr1:63155160-63155443	HepG2	liver:	n/a	n/a
34	CEBPB	chr1:63154929-63155605	HCT-116	colon:	n/a	n/a
35	SP1	chr1:63154972-63155693	HCT-116	colon:	n/a	n/a
36	FOXA1	chr1:63155121-63155808	HepG2	liver:	n/a	chr1:63155171-63155183 chr1:63155374-63155386
37	FOS	chr1:63155023-63156406	HUVEC	blood vessel:	n/a	chr1:63156204-63156211 chr1:63155301-63155312 chr1:63156203-63156213 chr1:63156204-63156213
38	FOSL2	chr1:63155014-63155622	SK-N-SH	brain:	n/a	n/a
39	STAT3	chr1:63155142-63155478	MCF10A-Er-Src	breast:	n/a	n/a
40	MXI1	chr1:63155138-63157330	HepG2	liver:	n/a	n/a
41	CHD2	chr1:63155138-63155565	Hela-S3	cervix:	n/a	n/a
42	PRDM1	chr1:63155177-63155465	Hela-S3	cervix:	n/a	n/a
43	ELK4	chr1:63155314-63155597	Hela-S3	cervix:	n/a	n/a
44	JUN	chr1:63155208-63155564	K562	blood:	n/a	n/a
45	MYBL2	chr1:63155063-63155746	HepG2	liver:	n/a	n/a
46	RCOR1	chr1:63155095-63155482	Hela-S3	cervix:	n/a	n/a
47	RCOR1	chr1:63154903-63156874	IMR90	lung:	n/a	n/a
48	EP300	chr1:63155146-63155611	HepG2	liver:	n/a	n/a
49	YY1	chr1:63155157-63155427	SK-N-SH_RA	brain:	n/a	n/a
50	POLR2A	chr1:63155198-63155475	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
DOCK7	TF binding region

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10157265	0.87[EUR][1000 genomes]
rs10159255	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10789113	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10789117	0.87[EUR][1000 genomes]
rs10789118	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10789119	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10789120	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10889333	0.80[EUR][1000 genomes]
rs10889338	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10889343	0.87[EUR][1000 genomes]
rs10889344	0.87[EUR][1000 genomes]
rs10889347	0.87[EUR][1000 genomes]
rs10889348	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10889349	0.87[EUR][1000 genomes]
rs10889350	0.87[EUR][1000 genomes]
rs10889352	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10889353	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10889354	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10889357	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10889360	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10889364	0.80[ASN][1000 genomes]
rs11207977	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11207980	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11207982	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11207990	0.87[EUR][1000 genomes]
rs11207992	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11207994	0.86[AMR][1000 genomes]
rs11207995	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11207996	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11207997	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11207999	0.86[EUR][1000 genomes]
rs11208000	0.87[EUR][1000 genomes]
rs11208001	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11208004	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11208007	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11485618	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1168085	0.90[EUR][1000 genomes]
rs1168086	0.90[EUR][1000 genomes]
rs1168089	0.90[EUR][1000 genomes]
rs1168093	0.89[EUR][1000 genomes]
rs1168097	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1168098	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1168099	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1168102	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1168103	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1168107	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1168113	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1168114	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1168124	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1168128	0.82[EUR][1000 genomes]
rs1168132	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12023282	0.80[ASN][1000 genomes]
rs12024044	0.80[ASN][1000 genomes]
rs12025800	0.87[EUR][1000 genomes]
rs12026283	0.80[ASN][1000 genomes]
rs12027341	0.80[ASN][1000 genomes]
rs12028944	0.80[ASN][1000 genomes]
rs12029452	0.80[ASN][1000 genomes]
rs12031537	0.83[ASN][1000 genomes]
rs12038768	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12041843	0.84[ASN][1000 genomes]
rs12042319	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12043910	0.83[ASN][1000 genomes]
rs12047226	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12049254	0.80[ASN][1000 genomes]
rs12116574	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12136083	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12239736	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12239737	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1472257	0.87[EUR][1000 genomes]
rs1570694	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1629122	0.86[EUR][1000 genomes]
rs1748195	0.86[EUR][1000 genomes]
rs1748197	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1748199	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1748200	0.86[EUR][1000 genomes]
rs1748201	0.86[EUR][1000 genomes]
rs2029763	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2131925	0.87[EUR][1000 genomes]
rs2131926	0.87[EUR][1000 genomes]
rs2366636	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2366638	0.87[EUR][1000 genomes]
rs2479464	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28399032	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34152715	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3850634	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4329540	0.87[EUR][1000 genomes]
rs4344355	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4409689	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4459145	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4495740	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4587594	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61471917	0.87[EUR][1000 genomes]
rs6587980	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6657050	0.82[AMR][1000 genomes]
rs6666816	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6675401	0.87[EUR][1000 genomes]
rs6678483	0.87[EUR][1000 genomes]
rs6682423	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6686331	0.89[EUR][1000 genomes]
rs6690733	0.87[EUR][1000 genomes]
rs6693353	0.84[EUR][1000 genomes]
rs6696502	0.87[EUR][1000 genomes]
rs746735	0.90[EUR][1000 genomes]
rs7518497	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7519785	0.86[EUR][1000 genomes]
rs7520810	0.87[EUR][1000 genomes]
rs7531579	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7539035	0.87[EUR][1000 genomes]
rs7555577	0.81[EUR][1000 genomes]
rs880694	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9787151	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9787156	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs993013	0.86[EUR][1000 genomes]
rs995000	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3437839	chr1:63152564-63156062	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10889356	DOCK7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63152200-63155400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:63152600-63155400	Active TSS	Fetal Stomach	stomach
3	chr1:63152600-63155600	Active TSS	Duodenum Mucosa	Duodenum
4	chr1:63152800-63155400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:63152800-63155600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:63152800-63155600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:63152800-63155600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:63152800-63156200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:63153000-63155600	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr1:63153200-63155400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:63153200-63155600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr1:63154200-63155400	Active TSS	Fetal Brain Male	brain
13	chr1:63154400-63155600	Weak transcription	Spleen	Spleen
14	chr1:63154400-63156600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:63154400-63156600	Flanking Active TSS	NHEK	skin
16	chr1:63154600-63155400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:63154600-63155400	Weak transcription	Lung	lung
18	chr1:63154600-63155400	Weak transcription	Small Intestine	intestine
19	chr1:63154600-63155600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:63154600-63156400	Weak transcription	Ovary	ovary
21	chr1:63154600-63157000	Enhancers	Fetal Heart	heart
22	chr1:63154800-63155400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:63154800-63155400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:63154800-63155400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr1:63154800-63155400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:63154800-63155400	Enhancers	Placenta	Placenta
27	chr1:63154800-63155400	Weak transcription	Left Ventricle	heart
28	chr1:63154800-63155400	Weak transcription	Pancreas	Pancrea
29	chr1:63154800-63155400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:63154800-63155400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr1:63154800-63155600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:63154800-63155600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:63154800-63155600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr1:63154800-63155600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:63154800-63155600	Weak transcription	Right Atrium	heart
36	chr1:63154800-63155600	Enhancers	Stomach Smooth Muscle	stomach
37	chr1:63154800-63155800	Enhancers	Primary T cells from cord blood	blood
38	chr1:63154800-63155800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:63154800-63155800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:63154800-63155800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:63154800-63155800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:63154800-63156000	Enhancers	A549	lung
43	chr1:63154800-63156000	Flanking Active TSS	Dnd41	blood
44	chr1:63154800-63156200	Enhancers	Primary hematopoietic stem cells	blood
45	chr1:63154800-63156200	Weak transcription	Aorta	Aorta
46	chr1:63154800-63156200	Enhancers	Fetal Thymus	thymus
47	chr1:63154800-63156200	Enhancers	Rectal Smooth Muscle	rectum
48	chr1:63154800-63156200	Enhancers	Thymus	Thymus
49	chr1:63154800-63156200	Active TSS	HepG2	liver
50	chr1:63154800-63156200	Enhancers	HSMM	muscle

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