Variant report

Variant	rs1504320
Chromosome Location	chr12:67273391-67273392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67272015..67274348-chr12:67462496..67464982,2	MCF-7	breast:
2	chr12:67267602..67269180-chr12:67272677..67275456,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256248	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1001408	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10506508	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10506509	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10784593	0.87[EUR][1000 genomes]
rs11176460	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11176461	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11176462	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11176466	0.95[ASN][1000 genomes]
rs11176470	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176473	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176475	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176476	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12319388	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1504318	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504319	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102997	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17247462	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17247553	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17827783	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3924008	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4322493	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4913509	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58006181	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61928292	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs973018	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975272	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1053250	chr12:67067995-67381411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1050547	chr12:67122154-67314886	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv541521	chr12:67122154-67314886	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1037144	chr12:67203280-67325187	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1044939	chr12:67207260-67377982	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1036984	chr12:67273098-67427543	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67258000-67292600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67270000-67274000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:67270200-67274000	Enhancers	Fetal Brain Male	brain
4	chr12:67270400-67274000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:67271800-67273800	Enhancers	Fetal Brain Female	brain
6	chr12:67272000-67273600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:67272200-67273800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:67272200-67274000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr12:67272200-67274000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:67272400-67273400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:67272400-67277400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:67272400-67289800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:67272800-67273800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:67272800-67274000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:67273000-67277400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:67273200-67273600	Enhancers	Fetal Heart	heart
17	chr12:67273200-67273800	Enhancers	Fetal Stomach	stomach
18	chr12:67273200-67274000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr12:67273200-67274000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:67273200-67274000	Enhancers	Fetal Kidney	kidney
21	chr12:67273200-67274000	Enhancers	Rectal Smooth Muscle	rectum
22	chr12:67273200-67274200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:67273200-67274200	Enhancers	Colon Smooth Muscle	Colon

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