Variant report

Variant	rs370938071
Chromosome Location	chr12:47585603-47585604
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47579082..47584431-chr12:47584905..47587812,5	K562	blood:
2	chr12:47498470..47501746-chr12:47583705..47586367,3	MCF-7	breast:
3	chr12:47583159..47586380-chr12:47586604..47590176,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263838	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv3327441	chr12:47585533-47586004	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47578200-47587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:47581000-47585800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:47581800-47594000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:47582800-47585800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:47583000-47585800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:47583200-47587200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:47583200-47587600	Weak transcription	Pancreas	Pancrea
8	chr12:47583200-47588400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:47583200-47589200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
11	chr12:47583400-47588000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:47583400-47588400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:47583800-47587600	Weak transcription	Lung	lung
14	chr12:47584000-47600600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:47584200-47587000	Weak transcription	Psoas Muscle	Psoas
16	chr12:47584200-47587600	Weak transcription	Right Atrium	heart
17	chr12:47584200-47589600	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:47584400-47586000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:47584600-47586600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:47584600-47587000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:47584600-47587000	Weak transcription	Spleen	Spleen
22	chr12:47584600-47587200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:47584600-47587400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:47584600-47587600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:47584600-47588400	Weak transcription	Adipose Nuclei	Adipose
26	chr12:47584800-47586000	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:47584800-47586400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:47584800-47586400	Weak transcription	K562	blood
29	chr12:47584800-47586600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:47584800-47586800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:47584800-47587000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:47584800-47597200	Weak transcription	Primary B cells from cord blood	blood
33	chr12:47584800-47605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:47585000-47586000	Weak transcription	Osteobl	bone
35	chr12:47585000-47586200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:47585000-47586400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:47585000-47587000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:47585000-47587000	Weak transcription	NH-A	brain
39	chr12:47585000-47588600	Enhancers	GM12878-XiMat	blood
40	chr12:47585200-47585800	Enhancers	Colonic Mucosa	Colon
41	chr12:47585200-47586600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:47585200-47586600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr12:47585200-47586600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:47585200-47586600	Enhancers	Small Intestine	intestine
45	chr12:47585200-47587400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr12:47585200-47587800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr12:47585400-47585800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:47585400-47586200	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr12:47585400-47586200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:47585400-47586800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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