Variant report

Variant	rs1586861
Chromosome Location	chr3:139058496-139058497
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	NR2F2	chr3:139058077-139058590	K562	blood:	n/a	n/a
2	MAX	chr3:139058138-139058570	SK-N-SH	brain:	n/a	chr3:139058325-139058344 chr3:139058378-139058387
3	FOS	chr3:139058035-139058671	K562	blood:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
4	SPI1	chr3:139058161-139058634	HL-60	blood:	n/a	n/a
5	ARID3A	chr3:139058038-139058540	K562	blood:	n/a	n/a
6	MYC	chr3:139057671-139059122	K562	blood:	n/a	chr3:139058916-139058925 chr3:139058325-139058344 chr3:139058378-139058387
7	ZMIZ1	chr3:139058067-139058550	K562	blood:	n/a	n/a
8	TBP	chr3:139058057-139058544	K562	blood:	n/a	n/a
9	UBTF	chr3:139058085-139058826	K562	blood:	n/a	n/a
10	FOSL2	chr3:139058067-139058651	SK-N-SH	brain:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
11	CEBPD	chr3:139057886-139058500	K562	blood:	n/a	n/a
12	GATA2	chr3:139058065-139058577	K562	blood:	n/a	n/a
13	IRF1	chr3:139057954-139059102	K562	blood:	n/a	n/a
14	EP300	chr3:139058034-139058553	SK-N-SH	brain:	n/a	chr3:139058095-139058102
15	USF1	chr3:139057971-139058610	K562	blood:	n/a	n/a
16	JUN	chr3:139057867-139058823	K562	blood:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
17	USF1	chr3:139057976-139058507	K562	blood:	n/a	n/a
18	ATF1	chr3:139058042-139058585	K562	blood:	n/a	n/a
19	FOSL1	chr3:139058088-139058654	K562	blood:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
20	TEAD4	chr3:139058011-139058931	K562	blood:	n/a	n/a
21	RXRA	chr3:139058034-139058527	SK-N-SH	brain:	n/a	n/a
22	ATF3	chr3:139058137-139058596	K562	blood:	n/a	n/a
23	POLR2A	chr3:139058213-139058694	K562	blood:	n/a	n/a
24	GATA2	chr3:139058093-139058524	K562	blood:	n/a	n/a
25	TAL1	chr3:139058164-139058536	K562	blood:	n/a	n/a
26	JUN	chr3:139057999-139058566	K562	blood:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
27	JUND	chr3:139058054-139058609	SK-N-SH	brain:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
28	CUX1	chr3:139057890-139058629	K562	blood:	n/a	n/a
29	GATA3	chr3:139057980-139058747	SK-N-SH	brain:	n/a	n/a
30	JUN	chr3:139058063-139058630	K562	blood:	n/a	chr3:139058378-139058386 chr3:139058379-139058390 chr3:139058376-139058388
31	EP300	chr3:139058098-139058561	SK-N-SH_RA	brain:	n/a	n/a
32	IRF1	chr3:139058086-139058721	K562	blood:	n/a	n/a
33	GATA2	chr3:139058087-139058558	K562	blood:	n/a	n/a
34	CCNT2	chr3:139057817-139058798	K562	blood:	n/a	n/a
35	HEY1	chr3:139058268-139058558	K562	blood:	n/a	n/a
36	TBL1XR1	chr3:139058112-139058747	K562	blood:	n/a	n/a
37	CBX3	chr3:139057960-139058797	K562	blood:	n/a	n/a
38	RCOR1	chr3:139057991-139058820	K562	blood:	n/a	n/a
39	EGR1	chr3:139058195-139058588	K562	blood:	n/a	chr3:139058386-139058396 chr3:139058386-139058399
40	CEBPD	chr3:139058025-139058615	K562	blood:	n/a	n/a
41	SPI1	chr3:139058245-139058506	K562	blood:	n/a	n/a
42	MYC	chr3:139057630-139058658	NB4	blood:	n/a	chr3:139058325-139058344 chr3:139058378-139058387
43	MAX	chr3:139058006-139058530	K562	blood:	n/a	chr3:139058325-139058344 chr3:139058378-139058387
44	USF1	chr3:139058110-139058584	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr3:139057966-139058839	K562	blood:	n/a	n/a
46	RCOR1	chr3:139057578-139058956	K562	blood:	n/a	n/a
47	TEAD4	chr3:139058056-139058558	K562	blood:	n/a	n/a
48	MAFK	chr3:139057934-139058796	K562	blood:	n/a	n/a
49	BHLHE40	chr3:139057153-139058842	K562	blood:	n/a	n/a
50	NFYA	chr3:139058050-139058755	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
ENSG00000051382	Chromatin interaction
ENSG00000175110	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1044826	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10460845	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1080371	0.83[CHD][hapmap]
rs10935320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10935323	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12488939	0.90[ASN][1000 genomes]
rs12494806	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12695698	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12695699	0.88[ASN][1000 genomes]
rs12695700	0.81[ASN][1000 genomes]
rs13060697	0.92[ASN][1000 genomes]
rs13074208	0.81[ASN][1000 genomes]
rs13083195	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13085888	0.87[ASN][1000 genomes]
rs13086868	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs13089007	0.97[ASN][1000 genomes]
rs13089090	0.86[ASN][1000 genomes]
rs13092507	0.84[ASN][1000 genomes]
rs13092935	0.88[ASN][1000 genomes]
rs1586863	0.90[ASN][1000 genomes]
rs1586864	0.90[ASN][1000 genomes]
rs167187	0.83[CHD][hapmap]
rs17336869	0.90[ASN][1000 genomes]
rs188421	0.83[CHD][hapmap]
rs1907687	0.90[ASN][1000 genomes]
rs2165139	0.81[ASN][1000 genomes]
rs2233811	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2233815	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2349059	0.87[ASN][1000 genomes]
rs34623690	0.90[ASN][1000 genomes]
rs3772877	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3772878	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3772879	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3821544	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3821545	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4544576	0.90[ASN][1000 genomes]
rs4683464	0.83[CHD][hapmap]
rs6439860	0.83[CHD][hapmap]
rs6771831	0.83[CHD][hapmap]
rs67929453	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9289576	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs9289578	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs964227	0.87[ASN][1000 genomes]
rs973691	0.90[ASN][1000 genomes]
rs9812192	0.90[ASN][1000 genomes]
rs9818691	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9825064	0.83[ASW][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9831108	0.92[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.97[ASN][1000 genomes]
rs9834607	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9835241	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9848241	0.90[ASN][1000 genomes]
rs9849039	0.87[ASN][1000 genomes]
rs9849578	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9853350	0.97[ASN][1000 genomes]
rs9859864	0.83[CHD][hapmap]
rs9860201	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9860521	0.81[ASN][1000 genomes]
rs9868544	0.87[ASN][1000 genomes]
rs9882014	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][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:16 , 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	chr3:139058000-139058600	Enhancers	Hela-S3	cervix
10	chr3:139058000-139058800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:139058000-139058800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:139058000-139058800	Enhancers	HMEC	breast
13	chr3:139058000-139058800	Enhancers	Osteobl	bone
14	chr3:139058000-139059000	Enhancers	HSMM	muscle
15	chr3:139058200-139058600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:139058400-139058800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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