Variant report

Variant	rs11712911
Chromosome Location	chr3:139058211-139058212
allele	C/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	FOSL1	chr3:139058180-139058471	K562	blood:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
2	NR2F2	chr3:139058077-139058590	K562	blood:	n/a	n/a
3	MAX	chr3:139058138-139058570	SK-N-SH	brain:	n/a	chr3:139058325-139058344 chr3:139058378-139058387
4	FOS	chr3:139058035-139058671	K562	blood:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
5	SPI1	chr3:139058161-139058634	HL-60	blood:	n/a	n/a
6	ARID3A	chr3:139058038-139058540	K562	blood:	n/a	n/a
7	MYC	chr3:139057671-139059122	K562	blood:	n/a	chr3:139058916-139058925 chr3:139058325-139058344 chr3:139058378-139058387
8	ZMIZ1	chr3:139058067-139058550	K562	blood:	n/a	n/a
9	TBP	chr3:139058057-139058544	K562	blood:	n/a	n/a
10	UBTF	chr3:139058085-139058826	K562	blood:	n/a	n/a
11	FOSL2	chr3:139058067-139058651	SK-N-SH	brain:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
12	POLR2A	chr3:139058210-139058211	K562	blood:	n/a	n/a
13	CEBPD	chr3:139057886-139058500	K562	blood:	n/a	n/a
14	USF2	chr3:139058158-139058482	K562	blood:	n/a	chr3:139058328-139058339
15	GATA2	chr3:139058065-139058577	K562	blood:	n/a	n/a
16	IRF1	chr3:139057954-139059102	K562	blood:	n/a	n/a
17	EP300	chr3:139058034-139058553	SK-N-SH	brain:	n/a	chr3:139058095-139058102
18	USF1	chr3:139057971-139058610	K562	blood:	n/a	n/a
19	JUN	chr3:139057867-139058823	K562	blood:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
20	USF1	chr3:139057976-139058507	K562	blood:	n/a	n/a
21	ATF1	chr3:139058042-139058585	K562	blood:	n/a	n/a
22	FOSL1	chr3:139058088-139058654	K562	blood:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
23	TEAD4	chr3:139058011-139058931	K562	blood:	n/a	n/a
24	RXRA	chr3:139058034-139058527	SK-N-SH	brain:	n/a	n/a
25	ATF3	chr3:139058137-139058596	K562	blood:	n/a	n/a
26	GATA2	chr3:139058093-139058524	K562	blood:	n/a	n/a
27	TAL1	chr3:139058164-139058536	K562	blood:	n/a	n/a
28	CTCF	chr3:139058102-139058495	K562	blood:	n/a	n/a
29	JUN	chr3:139057999-139058566	K562	blood:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
30	JUND	chr3:139058054-139058609	SK-N-SH	brain:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
31	CUX1	chr3:139057890-139058629	K562	blood:	n/a	n/a
32	GATA3	chr3:139057980-139058747	SK-N-SH	brain:	n/a	n/a
33	JUN	chr3:139058063-139058630	K562	blood:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
34	USF1	chr3:139058152-139058463	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr3:139058098-139058561	SK-N-SH_RA	brain:	n/a	n/a
36	IRF1	chr3:139058086-139058721	K562	blood:	n/a	n/a
37	GATA2	chr3:139058087-139058558	K562	blood:	n/a	n/a
38	CCNT2	chr3:139057817-139058798	K562	blood:	n/a	n/a
39	TBL1XR1	chr3:139058112-139058747	K562	blood:	n/a	n/a
40	CBX3	chr3:139057960-139058797	K562	blood:	n/a	n/a
41	RCOR1	chr3:139057991-139058820	K562	blood:	n/a	n/a
42	EGR1	chr3:139058195-139058588	K562	blood:	n/a	chr3:139058386-139058396 chr3:139058386-139058399
43	CEBPD	chr3:139058025-139058615	K562	blood:	n/a	n/a
44	MYC	chr3:139057630-139058658	NB4	blood:	n/a	chr3:139058325-139058344 chr3:139058378-139058387
45	MAX	chr3:139058006-139058530	K562	blood:	n/a	chr3:139058325-139058344 chr3:139058378-139058387
46	USF1	chr3:139058110-139058584	SK-N-SH	brain:	n/a	n/a
47	YY1	chr3:139058136-139058467	K562	blood:	n/a	n/a
48	POLR2A	chr3:139057966-139058839	K562	blood:	n/a	n/a
49	RCOR1	chr3:139057578-139058956	K562	blood:	n/a	n/a
50	TEAD4	chr3:139058056-139058558	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:138552766..138554683-chr3:139056672..139058862,2	K562	blood:
2	chr3:139056776..139060139-chr3:139061130..139064299,6	K562	blood:
3	chr3:139046461..139048787-chr3:139056957..139058941,2	K562	blood:
4	chr3:139045986..139048123-chr3:139057280..139059882,2	K562	blood:

Variant related genes	Relation type
MRPS22	TF binding region
ENSG00000175110	Chromatin interaction
ENSG00000051382	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1017469	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10935321	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10935322	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10935326	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10935328	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11705700	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11706576	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11717119	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11721246	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11920890	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11928377	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12495890	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13064670	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13313904	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13316469	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13326837	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13327001	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13327467	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13434189	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1371338	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1371339	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1550352	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1583743	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1586862	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1609483	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17395255	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17395262	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17395304	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1817830	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1817831	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs188422	0.84[ASN][1000 genomes]
rs211582	0.82[AMR][1000 genomes]
rs2118980	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2289347	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2289349	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2349058	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28771131	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28780368	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28829348	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28861812	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs295472	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3555	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35674260	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs387987	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3888890	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4428138	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4547659	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4683608	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4894411	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61659722	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62270789	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62270792	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62270814	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62270815	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62270816	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6439858	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6439861	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6439862	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6778992	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6782957	0.84[ASN][1000 genomes]
rs6801875	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6804877	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7372124	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7372551	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7372811	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7372813	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7373116	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7373657	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7374065	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7374317	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7374348	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7433335	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7612112	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7616025	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7626658	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7627718	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7645307	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7833	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878535	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9289574	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs964226	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs978835	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9812991	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9813503	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9817963	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9819368	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9821875	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9821891	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9824837	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9828954	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9831144	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9833460	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9839681	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9848820	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9848959	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9849255	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9850987	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9851318	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9857390	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9859393	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9868900	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9869745	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9871030	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9872749	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9873011	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9874227	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9876640	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9879594	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9881973	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9990108	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005158	chr3:139001736-139073011	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv877543	chr3:139021139-139327261	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv4034	chr3:139034976-139080133	Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139048200-139062400	Weak transcription	Right Atrium	heart
2	chr3:139056800-139058600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:139056800-139060400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr3:139057000-139058800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:139057000-139060000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:139057800-139058800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:139057800-139059200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:139057800-139060000	Flanking Active TSS	K562	blood
9	chr3:139058000-139058400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:139058000-139058400	Enhancers	NH-A	brain
11	chr3:139058000-139058600	Enhancers	Hela-S3	cervix
12	chr3:139058000-139058800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:139058000-139058800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:139058000-139058800	Enhancers	HMEC	breast
15	chr3:139058000-139058800	Enhancers	Osteobl	bone
16	chr3:139058000-139059000	Enhancers	HSMM	muscle
17	chr3:139058200-139058600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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