Variant report

Variant	rs11068398
Chromosome Location	chr12:117628967-117628968
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	chr12:117627165..117629540-chr12:118540302..118543294,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11068383	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11068408	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068410	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11831689	0.92[ASN][1000 genomes]
rs12231821	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3741467	0.90[ASN][1000 genomes]
rs3741468	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6490118	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73206042	0.92[AFR][1000 genomes];0.92[ASN][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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3409292	chr12:117613281-117638743	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
3	nsv510592	chr12:117618872-117684713	Bivalent/Poised TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	nsv560346	chr12:117623651-117642113	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	nsv560347	chr12:117623651-117643067	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117626200-117629000	Active TSS	Brain Angular Gyrus	brain
2	chr12:117627600-117629000	Active TSS	Stomach Smooth Muscle	stomach
3	chr12:117627800-117629000	Active TSS	Brain Germinal Matrix	brain
4	chr12:117628400-117635200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:117628600-117629000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr12:117628600-117629000	Enhancers	Lung	lung
7	chr12:117628600-117629000	Enhancers	Spleen	Spleen
8	chr12:117628800-117629000	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:117628800-117629000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:117628800-117629000	Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr12:117628800-117629000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr12:117628800-117629000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:117628800-117629000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:117628800-117629000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:117628800-117629000	Active TSS	Adipose Nuclei	Adipose
16	chr12:117628800-117629000	Enhancers	Placenta	Placenta
17	chr12:117628800-117629200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:117628800-117629200	Enhancers	Dnd41	blood
19	chr12:117628800-117629400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:117628800-117629400	Weak transcription	A549	lung
21	chr12:117628800-117629600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:117628800-117629600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:117628800-117629600	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:117628800-117629800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:117628800-117629800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:117628800-117629800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:117628800-117630000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:117628800-117630200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:117628800-117630600	Enhancers	Hela-S3	cervix
30	chr12:117628800-117633200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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