Variant report

Variant	rs12586328
Chromosome Location	chr14:70939005-70939006
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	ATF2	chr14:70938814-70939410	GM12878	blood:	n/a	n/a
2	STAT5A	chr14:70938891-70939370	GM12878	blood:	n/a	chr14:70939214-70939223 chr14:70939215-70939224
3	PML	chr14:70938805-70939431	GM12878	blood:	n/a	n/a
4	BATF	chr14:70938876-70939244	GM12878	blood:	n/a	chr14:70939216-70939226
5	CREB1	chr14:70938931-70939308	GM12878	blood:	n/a	n/a
6	CUX1	chr14:70938908-70939746	GM12878	blood:	n/a	n/a
7	BHLHE40	chr14:70938861-70939278	GM12878	blood:	n/a	n/a
8	NFIC	chr14:70938921-70939792	GM12878	blood:	n/a	n/a
9	EP300	chr14:70938882-70939282	GM12878	blood:	n/a	chr14:70939215-70939224 chr14:70939214-70939223
10	BCL3	chr14:70938943-70939332	GM12878	blood:	n/a	chr14:70939214-70939223 chr14:70939215-70939224
11	BCL11A	chr14:70938883-70939290	GM12878	blood:	n/a	chr14:70939214-70939223 chr14:70939215-70939224
12	FOXM1	chr14:70938784-70939893	GM12878	blood:	n/a	n/a
13	TBL1XR1	chr14:70938946-70939299	GM12878	blood:	n/a	n/a
14	MXI1	chr14:70938976-70939281	GM12878	blood:	n/a	n/a
15	MEF2A	chr14:70938810-70939425	GM12878	blood:	n/a	chr14:70939249-70939264 chr14:70939116-70939130
16	MEF2C	chr14:70938870-70939414	GM12878	blood:	n/a	chr14:70939249-70939264 chr14:70939114-70939129 chr14:70939116-70939130
17	NFATC1	chr14:70938841-70939398	GM12878	blood:	n/a	n/a
18	ATF2	chr14:70938876-70939354	GM12878	blood:	n/a	n/a
19	EP300	chr14:70938935-70939949	GM12878	blood:	n/a	chr14:70939215-70939224 chr14:70939520-70939534 chr14:70939214-70939223
20	CREB1	chr14:70938863-70939421	GM12878	blood:	n/a	n/a
21	NFIC	chr14:70938787-70940077	GM12878	blood:	n/a	n/a
22	MEF2A	chr14:70938862-70939281	GM12878	blood:	n/a	chr14:70939249-70939264 chr14:70939116-70939130
23	RCOR1	chr14:70938692-70939245	GM12878	blood:	n/a	n/a
24	BATF	chr14:70938921-70939359	GM12878	blood:	n/a	chr14:70939216-70939226
25	E2F4	chr14:70938833-70939459	MCF10A-Er-Src	breast:	n/a	n/a
26	CEBPB	chr14:70938784-70939867	GM12878	blood:	n/a	n/a
27	RUNX3	chr14:70938824-70939408	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000176082	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1044534	0.82[YRI][hapmap]
rs10483830	0.88[CEU][hapmap]
rs12232170	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12436464	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12436902	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12586325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107997	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17108107	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs17108176	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17108246	0.87[CEU][hapmap]
rs17108264	0.88[CEU][hapmap]
rs17108274	0.87[CEU][hapmap]
rs17113651	0.88[CEU][hapmap]
rs1953798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1953802	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1959483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1959484	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1959486	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2095807	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2293877	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2332389	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34512695	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3751523	0.82[EUR][1000 genomes]
rs4143920	0.86[CHB][hapmap]
rs4902817	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs4902827	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56778245	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56824265	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57146008	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61671382	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7143655	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7145265	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7150428	0.92[AFR][1000 genomes]
rs7152771	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7154884	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7159432	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7161249	0.81[EUR][1000 genomes]
rs73291972	0.81[EUR][1000 genomes]
rs73293909	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73293935	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8003323	0.83[YRI][hapmap]
rs8014252	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes]
rs8014338	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8015163	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8017584	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8020009	0.81[EUR][1000 genomes]
rs8021308	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[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	nsv983841	chr14:70935862-70939179	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70910600-70955600	Weak transcription	Left Ventricle	heart
2	chr14:70917000-70940200	Weak transcription	Aorta	Aorta
3	chr14:70921800-70940000	Weak transcription	Psoas Muscle	Psoas
4	chr14:70933400-70941200	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:70934200-70943800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:70935400-70940200	Weak transcription	Liver	Liver
7	chr14:70936000-70943800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr14:70936600-70939200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:70936800-70939800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:70937000-70939800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr14:70937400-70939200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr14:70937400-70939200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:70937600-70939600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:70937800-70944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:70938600-70940000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr14:70938600-70940200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:70938600-70940200	Weak transcription	Adipose Nuclei	Adipose
18	chr14:70938600-70940400	Enhancers	GM12878-XiMat	blood
19	chr14:70938600-70943600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:70938800-70941800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr14:70939000-70939200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr14:70939000-70939400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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