Variant report

Variant	rs575167954
Chromosome Location	chr12:121471679-121471680
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	chr12:120729256..120731429-chr12:121471533..121473045,2	MCF-7	breast:
2	chr12:121471397..121473334-chr12:121474789..121478157,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000135114	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	esv3421024	chr12:121471004-121493702	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121454400-121472200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:121454400-121475800	Weak transcription	Adipose Nuclei	Adipose
3	chr12:121454400-121476000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:121454400-121476400	Weak transcription	Right Atrium	heart
5	chr12:121454600-121476200	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:121454600-121476200	Weak transcription	Gastric	stomach
7	chr12:121465000-121472000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:121467800-121471800	Strong transcription	Liver	Liver
9	chr12:121469400-121472200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:121469600-121472000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:121470200-121476200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:121470400-121476200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:121470600-121472200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr12:121471000-121473000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:121471000-121474200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:121471000-121476000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:121471200-121471800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:121471200-121472200	Enhancers	Esophagus	oesophagus
19	chr12:121471200-121472400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:121471200-121472400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:121471200-121472400	Enhancers	Duodenum Mucosa	Duodenum
22	chr12:121471200-121472600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:121471200-121472600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr12:121471200-121473000	Enhancers	HMEC	breast
25	chr12:121471200-121473000	Enhancers	NHEK	skin
26	chr12:121471200-121473600	Enhancers	Lung	lung
27	chr12:121471200-121474200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:121471200-121475200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:121471200-121475400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:121471400-121471800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:121471400-121471800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:121471400-121472400	Flanking Active TSS	Hela-S3	cervix
33	chr12:121471400-121472800	Enhancers	Spleen	Spleen
34	chr12:121471400-121472800	Enhancers	A549	lung
35	chr12:121471400-121473000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:121471400-121473000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr12:121471400-121473000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr12:121471400-121475200	Enhancers	HSMM	muscle
39	chr12:121471600-121471800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr12:121471600-121471800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:121471600-121471800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr12:121471600-121471800	Flanking Active TSS	Stomach Mucosa	stomach
43	chr12:121471600-121471800	Flanking Active TSS	NH-A	brain
44	chr12:121471600-121472200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr12:121471600-121472400	Enhancers	GM12878-XiMat	blood
46	chr12:121471600-121472600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr12:121471600-121472600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:121471600-121472800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:121471600-121473000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:121471600-121473000	Enhancers	NHDF-Ad	bronchial

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