Variant report

Variant	rs12091034
Chromosome Location	chr1:180513525-180513526
allele	G/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	FOXA2	chr1:180513223-180513690	A549	lung:	n/a	n/a
2	FOXA1	chr1:180513222-180513545	T-47D	breast:	n/a	chr1:180513361-180513376
3	FOXA1	chr1:180513184-180513538	T-47D	breast:	n/a	chr1:180513361-180513376

No.	Distal block	Cell Line	Cell type
1	chr1:180511395..180514188-chr1:180783985..180786756,2	K562	blood:
2	chr1:180512434..180513990-chr1:180599840..180601494,2	MCF-7	breast:
3	chr1:180511669..180514906-chr1:180530245..180533112,3	K562	blood:
4	chr1:180505841..180513650-chr1:180514886..180521271,14	K562	blood:
5	chr1:180470537..180472654-chr1:180512131..180513964,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266683	TF binding region
ENSG00000143324	Chromatin interaction
ENSG00000135847	Chromatin interaction
ENSG00000266683	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10913989	1.00[AMR][1000 genomes]
rs10913993	1.00[AMR][1000 genomes]
rs10913997	1.00[AMR][1000 genomes]
rs10914015	1.00[AMR][1000 genomes]
rs10914025	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10914026	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10914039	1.00[AMR][1000 genomes]
rs12060882	1.00[AMR][1000 genomes]
rs12065345	1.00[AMR][1000 genomes]
rs12065470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12068605	1.00[AMR][1000 genomes]
rs12076376	1.00[AMR][1000 genomes]
rs12078865	1.00[AMR][1000 genomes]
rs12080367	1.00[AMR][1000 genomes]
rs12080976	1.00[AMR][1000 genomes]
rs12095564	1.00[AMR][1000 genomes]
rs12096761	1.00[AMR][1000 genomes]
rs12098212	1.00[AMR][1000 genomes]
rs12354363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16856167	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73051243	1.00[AMR][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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180507000-180514800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:180510200-180516000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:180510400-180529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:180511600-180516200	Weak transcription	Psoas Muscle	Psoas
5	chr1:180511800-180521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:180512000-180515800	Weak transcription	Left Ventricle	heart
7	chr1:180512200-180516200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:180512200-180516600	Weak transcription	Fetal Brain Female	brain
9	chr1:180512200-180521200	Weak transcription	HSMMtube	muscle
10	chr1:180512400-180515800	Weak transcription	Right Atrium	heart
11	chr1:180512400-180517800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:180512600-180516200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:180512600-180516200	Weak transcription	Brain Germinal Matrix	brain
14	chr1:180512800-180517600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:180513000-180518000	Weak transcription	Fetal Brain Male	brain
16	chr1:180513200-180513600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:180513200-180513600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:180513200-180513600	Enhancers	Lung	lung
19	chr1:180513200-180513600	Enhancers	Pancreas	Pancrea
20	chr1:180513200-180513600	Enhancers	Right Ventricle	heart
21	chr1:180513200-180517400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:180513400-180513600	Enhancers	Aorta	Aorta
23	chr1:180513400-180513600	Enhancers	Fetal Heart	heart
24	chr1:180513400-180513600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:180513400-180516200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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