Variant report

Variant	rs7310680
Chromosome Location	chr12:9193909-9193910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9192632..9194730-chr12:9196129..9197687,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1049948	1.00[ASN][1000 genomes]
rs11048354	1.00[ASN][1000 genomes]
rs12297905	1.00[ASN][1000 genomes]
rs12313493	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313494	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314142	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314310	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917943	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917957	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805696	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28769384	1.00[ASN][1000 genomes]
rs3026237	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3026240	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882972	1.00[ASN][1000 genomes]
rs4882973	1.00[ASN][1000 genomes]
rs4882974	1.00[ASN][1000 genomes]
rs4883205	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4883207	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883210	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56759930	1.00[ASN][1000 genomes]
rs7296548	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311244	1.00[ASN][1000 genomes]
rs7312460	1.00[ASN][1000 genomes]

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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription 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 target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9178400-9216400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:9188000-9198400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:9188200-9194600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr12:9188800-9194200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:9188800-9194200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:9188800-9195600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:9188800-9195800	Enhancers	Primary T cells from cord blood	blood
8	chr12:9189000-9194200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:9191400-9196000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:9192600-9198800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:9192600-9199400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:9192800-9199000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:9193200-9199600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:9193400-9194200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:9193400-9197800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:9193600-9194200	Enhancers	Fetal Thymus	thymus
17	chr12:9193600-9194400	Enhancers	Left Ventricle	heart
18	chr12:9193600-9194600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr12:9193800-9194200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr12:9193800-9194200	Enhancers	HSMMtube	muscle
21	chr12:9193800-9194800	Enhancers	Fetal Heart	heart

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