Variant report

Variant	rs73285582
Chromosome Location	chr12:12578818-12578819
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12578734..12582406-chr12:12583548..12588483,5	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs58029880	1.00[AMR][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12558000-12586000	Weak transcription	Pancreas	Pancrea
2	chr12:12565200-12585000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:12572600-12588400	Weak transcription	Primary T cells from cord blood	blood
4	chr12:12577400-12582200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:12577400-12582600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:12577600-12580600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:12577600-12583800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:12577800-12579200	Enhancers	Brain Anterior Caudate	brain
9	chr12:12577800-12579200	Enhancers	Osteobl	bone
10	chr12:12577800-12580000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:12577800-12581800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr12:12577800-12584000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:12578000-12579000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:12578000-12579200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:12578000-12579400	Enhancers	Psoas Muscle	Psoas
16	chr12:12578000-12579400	Enhancers	HUVEC	blood vessel
17	chr12:12578000-12580000	Enhancers	Aorta	Aorta
18	chr12:12578200-12579400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:12578200-12579600	Enhancers	Stomach Mucosa	stomach
20	chr12:12578200-12588600	Weak transcription	Primary B cells from cord blood	blood
21	chr12:12578400-12579000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:12578400-12579200	Enhancers	HSMM	muscle
23	chr12:12578400-12579400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr12:12578400-12586600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:12578400-12588200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:12578600-12579000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr12:12578600-12579200	Enhancers	Rectal Smooth Muscle	rectum
28	chr12:12578600-12579200	Enhancers	HSMMtube	muscle
29	chr12:12578600-12579400	Enhancers	HepG2	liver
30	chr12:12578600-12580800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:12578800-12579000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr12:12578800-12579000	Enhancers	HMEC	breast
33	chr12:12578800-12579000	Enhancers	NHLF	lung
34	chr12:12578800-12579400	Enhancers	Fetal Lung	lung
35	chr12:12578800-12581800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:12578800-12586200	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:12578800-12589200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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