Variant report

Variant	rs12094045
Chromosome Location	chr1:180703813-180703814
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180701670..180704293-chr1:180704496..180706159,2	MCF-7	breast:
2	chr1:180659309..180661145-chr1:180702429..180704550,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10914067	0.88[YRI][hapmap];0.90[AFR][1000 genomes]
rs10914089	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10914109	0.81[AFR][1000 genomes]
rs10914110	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10914126	0.88[YRI][hapmap]
rs11487340	0.82[AFR][1000 genomes]
rs12060106	0.86[AFR][1000 genomes]
rs12063811	0.81[AFR][1000 genomes]
rs12064145	1.00[EUR][1000 genomes]
rs12073959	0.85[AFR][1000 genomes]
rs12075181	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12075718	1.00[YRI][hapmap]
rs12080368	1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12087860	1.00[EUR][1000 genomes]
rs12088166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13374649	1.00[YRI][hapmap]
rs13375018	1.00[EUR][1000 genomes]
rs58972035	1.00[EUR][1000 genomes]
rs60694734	1.00[EUR][1000 genomes]
rs6659019	1.00[EUR][1000 genomes]
rs6662788	1.00[EUR][1000 genomes]
rs6692545	0.90[YRI][hapmap]
rs73034866	1.00[EUR][1000 genomes]
rs73036505	0.81[AFR][1000 genomes]
rs73036508	0.81[AFR][1000 genomes]
rs73036531	1.00[EUR][1000 genomes]
rs73036535	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036573	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73040986	1.00[EUR][1000 genomes]
rs73047646	1.00[EUR][1000 genomes]
rs73047664	1.00[EUR][1000 genomes]
rs73047764	1.00[EUR][1000 genomes]
rs73047767	1.00[EUR][1000 genomes]
rs73051218	0.82[AFR][1000 genomes]
rs73051239	0.90[AFR][1000 genomes]
rs73052327	1.00[EUR][1000 genomes]
rs7355147	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7512811	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7524525	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7550861	1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7553766	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180698000-180704200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:180701000-180706200	Weak transcription	Pancreas	Pancrea
3	chr1:180701400-180706400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr1:180701600-180704400	ZNF genes & repeats	K562	blood
5	chr1:180701800-180704400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
6	chr1:180702600-180704400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:180703200-180704200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr1:180703400-180704000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:180703400-180704000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr1:180703400-180704200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:180703600-180704000	ZNF genes & repeats	Left Ventricle	heart
12	chr1:180703600-180704200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:180703800-180704000	ZNF genes & repeats	Dnd41	blood

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