Variant report

Variant	rs4234430
Chromosome Location	chr3:43682950-43682951
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	CEBPB	chr3:43682820-43683690	Hela-S3	cervix:	n/a	chr3:43683499-43683510
2	REST	chr3:43682790-43683304	HL-60	blood:	n/a	n/a
3	CEBPB	chr3:43682901-43683044	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:43682755-43683689	HL-60	blood:	n/a	n/a
5	CEBPB	chr3:43682846-43683683	IMR90	lung:	n/a	chr3:43683499-43683510
6	MYC	chr3:43682934-43683562	NB4	blood:	n/a	n/a
7	FOXA2	chr3:43682888-43683098	HepG2	liver:	n/a	n/a
8	CEBPB	chr3:43682840-43683159	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:43677251..43683206-chr3:43726914..43734554,14	K562	blood:
2	chr3:43680997..43684458-chr3:43685498..43690929,5	K562	blood:
3	chr3:43673500..43676059-chr3:43681996..43684476,2	K562	blood:
4	chr3:43679862..43683556-chr3:43731256..43733362,3	MCF-7	breast:

Variant related genes	Relation type
ANO10	TF binding region
ENSG00000160746	Chromatin interaction
ENSG00000011198	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1021049	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1026887	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs1038202	1.00[JPT][hapmap]
rs10440111	0.89[ASN][1000 genomes]
rs11130006	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11706130	0.87[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11714015	0.91[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11716569	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs11718482	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs12152260	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12374079	0.81[ASN][1000 genomes]
rs13072613	0.83[EUR][1000 genomes]
rs13075520	0.82[EUR][1000 genomes]
rs13084604	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs13092838	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs13098202	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs1384434	1.00[JPT][hapmap]
rs1482648	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs1482650	1.00[JPT][hapmap]
rs1482651	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1482652	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1482653	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17030517	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17407870	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs17407912	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs2054552	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2054553	0.81[ASN][1000 genomes]
rs2054554	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2086653	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs2127725	0.91[ASN][1000 genomes]
rs2170219	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2219902	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs2372433	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs2372487	0.82[EUR][1000 genomes]
rs2888312	1.00[JPT][hapmap]
rs34919938	0.83[EUR][1000 genomes]
rs3755602	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3772165	0.80[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3772167	1.00[JPT][hapmap]
rs3774790	0.90[CHB][hapmap]
rs3774792	0.90[CHB][hapmap]
rs3821381	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4325902	0.96[ASN][1000 genomes]
rs4516582	0.84[ASN][1000 genomes]
rs4682690	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4682691	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4682892	0.91[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4682897	0.91[ASN][1000 genomes]
rs4682898	0.87[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4682900	0.90[CHB][hapmap]
rs6441779	0.83[EUR][1000 genomes]
rs6441780	0.83[EUR][1000 genomes]
rs6441781	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6441785	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6441786	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6441787	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6768557	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs6775337	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs6779864	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6782442	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs6793877	0.92[ASN][1000 genomes]
rs6797855	0.87[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6809134	0.91[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7428158	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs7616708	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7621271	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7630010	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7648082	0.80[ASN][1000 genomes]
rs7653738	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9311341	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9682975	0.82[EUR][1000 genomes]
rs9829081	0.83[EUR][1000 genomes]
rs9851894	0.87[ASN][1000 genomes]
rs9863479	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9878330	0.81[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	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43664200-43688400	Weak transcription	Aorta	Aorta
2	chr3:43680000-43684200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:43680800-43683400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:43680800-43683400	Weak transcription	HepG2	liver
5	chr3:43680800-43683600	Enhancers	K562	blood
6	chr3:43680800-43686000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:43680800-43687800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:43680800-43688000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:43680800-43688800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:43680800-43691200	Weak transcription	Colonic Mucosa	Colon
11	chr3:43680800-43691200	Weak transcription	Placenta	Placenta
12	chr3:43681000-43683000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:43681000-43683000	Weak transcription	Stomach Mucosa	stomach
14	chr3:43681000-43688800	Weak transcription	A549	lung
15	chr3:43681800-43683600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:43682200-43683000	Enhancers	Primary B cells from cord blood	blood
17	chr3:43682600-43683000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:43682800-43683400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr3:43682800-43683600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:43682800-43683600	Enhancers	HSMM	muscle
21	chr3:43682800-43683600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr3:43682800-43683600	Enhancers	NHLF	lung
23	chr3:43682800-43683800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:43682800-43683800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:43682800-43683800	Enhancers	HSMMtube	muscle
26	chr3:43682800-43683800	Enhancers	NHDF-Ad	bronchial
27	chr3:43682800-43683800	Enhancers	Osteobl	bone

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