Variant report

Variant	rs787834
Chromosome Location	chr12:120988460-120988461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr12:120987924-120988521	HepG2	liver:	n/a	n/a
2	FOXA1	chr12:120987858-120988569	HepG2	liver:	n/a	n/a
3	CEBPB	chr12:120988095-120988464	A549	lung:	n/a	n/a
4	FOXA1	chr12:120988076-120988531	HepG2	liver:	n/a	n/a
5	CEBPB	chr12:120988224-120988463	HepG2	liver:	n/a	n/a
6	MAX	chr12:120987785-120988506	HepG2	liver:	n/a	n/a
7	TCF12	chr12:120987896-120988602	A549	lung:	n/a	n/a
8	NR2F2	chr12:120987812-120988502	HepG2	liver:	n/a	n/a
9	ELF1	chr12:120987883-120988481	HepG2	liver:	n/a	chr12:120988131-120988144
10	NFIC	chr12:120987850-120988520	HepG2	liver:	n/a	n/a
11	FOXA1	chr12:120987895-120988576	HepG2	liver:	n/a	n/a
12	MYBL2	chr12:120987963-120988522	HepG2	liver:	n/a	n/a
13	FOXA2	chr12:120987942-120988480	HepG2	liver:	n/a	n/a
14	MXI1	chr12:120987819-120988549	HepG2	liver:	n/a	n/a
15	SP1	chr12:120987931-120988508	HepG2	liver:	n/a	n/a
16	CEBPB	chr12:120987973-120988531	HepG2	liver:	n/a	n/a
17	ARID3A	chr12:120987832-120988497	HepG2	liver:	n/a	n/a
18	SP1	chr12:120987893-120988523	A549	lung:	n/a	n/a
19	EP300	chr12:120987895-120988561	HepG2	liver:	n/a	n/a
20	NFIC	chr12:120987912-120988547	HepG2	liver:	n/a	n/a
21	RXRA	chr12:120987791-120988496	HepG2	liver:	n/a	n/a
22	MYBL2	chr12:120987809-120988601	HepG2	liver:	n/a	n/a
23	EP300	chr12:120987913-120988572	HepG2	liver:	n/a	n/a
24	CEBPB	chr12:120987944-120988542	HepG2	liver:	n/a	n/a
25	HNF4G	chr12:120988201-120988475	HepG2	liver:	n/a	chr12:120988360-120988368
26	MAFK	chr12:120988037-120988498	HepG2	liver:	n/a	n/a
27	TEAD4	chr12:120988157-120988497	A549	lung:	n/a	n/a
28	RXRA	chr12:120987931-120988498	HepG2	liver:	n/a	n/a
29	HDAC2	chr12:120987918-120988546	HepG2	liver:	n/a	n/a
30	NR2F2	chr12:120987772-120988523	HepG2	liver:	n/a	n/a
31	TEAD4	chr12:120988047-120988476	A549	lung:	n/a	n/a
32	ELF1	chr12:120987878-120988504	HepG2	liver:	n/a	chr12:120988131-120988144
33	MAX	chr12:120987827-120988484	A549	lung:	n/a	n/a
34	MBD4	chr12:120987905-120988473	HepG2	liver:	n/a	n/a
35	TEAD4	chr12:120987820-120988658	HepG2	liver:	n/a	n/a
36	CEBPB	chr12:120988075-120988527	A549	lung:	n/a	n/a
37	MAX	chr12:120987781-120988530	A549	lung:	n/a	n/a
38	EP300	chr12:120988022-120988511	HepG2	liver:	n/a	n/a
39	CEBPB	chr12:120988076-120988513	A549	lung:	n/a	n/a
40	BHLHE40	chr12:120988009-120988486	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:120986321..120988616-chr12:120990306..120992869,4	MCF-7	breast:
2	chr12:120974437..120977304-chr12:120987855..120989624,2	K562	blood:
3	chr12:120881393..120884283-chr12:120987763..120989984,2	MCF-7	breast:
4	chr12:120971071..120973641-chr12:120986668..120988897,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNF10	TF binding region
ENSG00000022840	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000170855	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1037611	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10774550	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10774557	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774558	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774559	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849756	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849760	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849762	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849764	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065144	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11065147	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065158	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065163	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065164	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1151845	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1151846	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1167688	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1167696	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167699	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167701	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167702	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167704	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167705	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167706	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167713	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167714	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167715	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167716	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167719	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1167720	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167721	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167722	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167723	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1167724	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1179460	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1179462	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1179463	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1179464	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1179465	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12227470	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12369178	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370706	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1592361	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1671762	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1671765	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1671766	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1671769	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1710130	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1710132	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1710142	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1710143	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1710144	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1710146	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1794751	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1794752	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2235223	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292680	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2301456	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2673623	0.81[ASN][1000 genomes]
rs2673624	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2673625	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28390349	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3088345	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35801170	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3847971	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767898	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs496370	0.83[EUR][1000 genomes]
rs526176	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs606443	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs634688	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs667913	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs671566	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs680795	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7135855	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307666	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs787818	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs787821	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs787822	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs787823	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs787826	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs787828	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787831	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787833	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963890	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7972060	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs812560	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8903	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9669663	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906	chr12:120973683-121018441	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs787834	POP5	Cis_1M	lymphoblastoid	RTeQTL
rs787834	RNF10	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120976000-121018000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120976400-121018200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120977400-120995600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:120977400-121017600	Strong transcription	Fetal Thymus	thymus
5	chr12:120977400-121018200	Strong transcription	Fetal Stomach	stomach
6	chr12:120977600-121016800	Strong transcription	Dnd41	blood
7	chr12:120982200-121017600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:120983400-120990200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:120983400-120990200	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:120983600-120988800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:120983600-120989000	Strong transcription	GM12878-XiMat	blood
12	chr12:120983600-121017600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:120983600-121017600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:120983600-121017800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:120983600-121017800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:120983600-121017800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr12:120983800-120988600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:120983800-121017800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:120983800-121017800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:120984000-120988600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:120984000-120988600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:120984000-120989200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr12:120984000-120995000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:120984000-120996000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:120984000-121017800	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr12:120984000-121017800	Strong transcription	Fetal Intestine Large	intestine
27	chr12:120984000-121017800	Strong transcription	Thymus	Thymus
28	chr12:120984000-121018200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:120984200-120996000	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr12:120984200-121017400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:120984400-120996800	Strong transcription	Fetal Brain Female	brain
32	chr12:120984400-121018000	Strong transcription	Brain Germinal Matrix	brain
33	chr12:120984600-120988600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:120984600-120992000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:120984800-120989800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:120984800-120995600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:120985600-120992000	Weak transcription	Aorta	Aorta
38	chr12:120985600-121000800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:120985600-121018200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:120985800-120992200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:120985800-120992400	Weak transcription	Fetal Heart	heart
42	chr12:120986200-120989400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:120986400-120990200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:120986600-120989600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:120986600-120989600	Weak transcription	NH-A	brain
46	chr12:120986600-120990600	Genic enhancers	Left Ventricle	heart
47	chr12:120986600-120992200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:120986600-120992200	Weak transcription	Fetal Brain Male	brain
49	chr12:120986600-120992200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:120986800-120989600	Genic enhancers	Placenta	Placenta

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