Variant report

Variant	rs11830769
Chromosome Location	chr12:46697618-46697619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46664868..46666420-chr12:46696622..46698481,2	MCF-7	breast:
2	chr12:46598941..46599682-chr12:46696941..46697889,2	MCF-7	breast:
3	chr12:46692195..46695019-chr12:46696721..46698936,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10506267	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10506268	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11183454	1.00[EUR][1000 genomes]
rs1125908	1.00[EUR][1000 genomes]
rs11831535	0.82[AMR][1000 genomes]
rs11834905	1.00[EUR][1000 genomes]
rs17096884	1.00[EUR][1000 genomes]
rs2125646	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2307062	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2307063	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2408509	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3742061	1.00[EUR][1000 genomes]
rs3843676	0.82[AMR][1000 genomes]
rs56222195	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57067899	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57149475	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57271454	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57425661	1.00[EUR][1000 genomes]
rs59702903	0.81[ASN][1000 genomes]
rs60628240	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60977966	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61232019	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61406609	1.00[EUR][1000 genomes]
rs61517444	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73282532	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73282561	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73282591	1.00[EUR][1000 genomes]
rs74082085	0.82[AMR][1000 genomes]
rs74083707	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74083710	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74084031	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs923788	1.00[EUR][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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46693600-46698000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:46693800-46698000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:46695200-46697800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:46695200-46697800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:46695200-46697800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:46695200-46698000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:46697200-46698400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:46697200-46698600	Enhancers	Fetal Muscle Leg	muscle
9	chr12:46697400-46698200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr12:46697400-46698200	Enhancers	Fetal Stomach	stomach
11	chr12:46697400-46698200	Enhancers	Rectal Smooth Muscle	rectum
12	chr12:46697600-46697800	Enhancers	Primary hematopoietic stem cells	blood

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