Variant report

Variant	rs143705680
Chromosome Location	chr12:121471307-121471308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121454400-121471600	Weak transcription	GM12878-XiMat	blood
2	chr12:121454400-121472200	Weak transcription	Primary T cells from cord blood	blood
3	chr12:121454400-121475800	Weak transcription	Adipose Nuclei	Adipose
4	chr12:121454400-121476000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:121454400-121476400	Weak transcription	Right Atrium	heart
6	chr12:121454600-121471600	Weak transcription	Fetal Thymus	thymus
7	chr12:121454600-121476200	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:121454600-121476200	Weak transcription	Gastric	stomach
9	chr12:121460000-121471400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:121465000-121472000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:121465800-121471400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:121465800-121471600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:121466200-121471400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:121467800-121471800	Strong transcription	Liver	Liver
15	chr12:121469200-121471400	Genic enhancers	Stomach Mucosa	stomach
16	chr12:121469400-121471400	Weak transcription	Spleen	Spleen
17	chr12:121469400-121472200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:121469600-121472000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:121470200-121471400	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr12:121470200-121476200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr12:121470400-121471400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr12:121470400-121476200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:121470600-121472200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:121471000-121471400	Enhancers	Hela-S3	cervix
25	chr12:121471000-121471600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:121471000-121471600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:121471000-121471600	Enhancers	Colonic Mucosa	Colon
28	chr12:121471000-121471600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr12:121471000-121471600	Enhancers	Small Intestine	intestine
30	chr12:121471000-121473000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:121471000-121474200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr12:121471000-121476000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:121471200-121471600	Genic enhancers	Monocytes-CD14+_RO01746	blood
34	chr12:121471200-121471800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:121471200-121472200	Enhancers	Esophagus	oesophagus
36	chr12:121471200-121472400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:121471200-121472400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:121471200-121472400	Enhancers	Duodenum Mucosa	Duodenum
39	chr12:121471200-121472600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:121471200-121472600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr12:121471200-121473000	Enhancers	HMEC	breast
42	chr12:121471200-121473000	Enhancers	NHEK	skin
43	chr12:121471200-121473600	Enhancers	Lung	lung
44	chr12:121471200-121474200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr12:121471200-121475200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:121471200-121475400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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