Variant report

Variant	rs11173117
Chromosome Location	chr12:60096743-60096744
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	chr12:49657670..49659344-chr12:60094234..60097237,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258101	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11173150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11520095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12146796	1.00[AMR][1000 genomes]
rs12368525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12372155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2829972	chr12:60079404-60111653	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv899132	chr12:60087572-60211476	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60045800-60099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:60050800-60098600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:60069600-60131400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:60071600-60098600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:60072200-60098600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:60072800-60098000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr12:60085200-60098600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:60086000-60102400	Weak transcription	Primary T cells from cord blood	blood
9	chr12:60086200-60098400	Weak transcription	Primary B cells from cord blood	blood
10	chr12:60086200-60105200	Weak transcription	Aorta	Aorta
11	chr12:60086200-60106400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:60087600-60108000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:60089400-60126000	Weak transcription	Left Ventricle	heart
14	chr12:60093800-60107400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:60093800-60108800	Weak transcription	Ovary	ovary
16	chr12:60093800-60109800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:60093800-60126600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:60094000-60098600	Weak transcription	Hela-S3	cervix
19	chr12:60094000-60103400	Weak transcription	Adipose Nuclei	Adipose
20	chr12:60094000-60127200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:60094200-60101600	Weak transcription	HMEC	breast
22	chr12:60094200-60107200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:60094200-60127200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:60094600-60101800	Weak transcription	NHLF	lung
25	chr12:60094600-60104400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:60094800-60098600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:60094800-60098800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:60095400-60114400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:60096200-60104800	Weak transcription	Fetal Thymus	thymus
30	chr12:60096400-60098600	Weak transcription	NHDF-Ad	bronchial

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