Variant report

Variant	rs377417947
Chromosome Location	chr12:47585593-47585594
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: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv1997773	chr12:47585594-47585595	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	n/a	diseases

No data

Chromatin state (count:66 , 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	chr12:47580800-47585600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr12:47581000-47585800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:47581800-47594000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:47582200-47585600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:47582800-47585800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:47583000-47585800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:47583200-47587200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:47583200-47587600	Weak transcription	Pancreas	Pancrea
10	chr12:47583200-47588400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:47583200-47589200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
13	chr12:47583400-47588000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:47583400-47588400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:47583600-47585600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:47583800-47587600	Weak transcription	Lung	lung
17	chr12:47584000-47600600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:47584200-47587000	Weak transcription	Psoas Muscle	Psoas
19	chr12:47584200-47587600	Weak transcription	Right Atrium	heart
20	chr12:47584200-47589600	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:47584400-47586000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:47584600-47585600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:47584600-47585600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr12:47584600-47585600	Weak transcription	Liver	Liver
25	chr12:47584600-47586600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:47584600-47587000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:47584600-47587000	Weak transcription	Spleen	Spleen
28	chr12:47584600-47587200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:47584600-47587400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:47584600-47587600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:47584600-47588400	Weak transcription	Adipose Nuclei	Adipose
32	chr12:47584800-47586000	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:47584800-47586400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:47584800-47586400	Weak transcription	K562	blood
35	chr12:47584800-47586600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:47584800-47586800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:47584800-47587000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:47584800-47597200	Weak transcription	Primary B cells from cord blood	blood
39	chr12:47584800-47605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:47585000-47585600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr12:47585000-47586000	Weak transcription	Osteobl	bone
42	chr12:47585000-47586200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:47585000-47586400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:47585000-47587000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:47585000-47587000	Weak transcription	NH-A	brain
46	chr12:47585000-47588600	Enhancers	GM12878-XiMat	blood
47	chr12:47585200-47585600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:47585200-47585800	Enhancers	Colonic Mucosa	Colon
49	chr12:47585200-47586600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:47585200-47586600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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