Variant report

Variant	rs188293136
Chromosome Location	chr16:12626271-12626272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12611118..12612757-chr16:12625721..12628602,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1038535	chr16:12620736-12636982	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv571465	chr16:12625395-12639800	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1045473	chr16:12625727-12636982	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1044975	chr16:12625727-12637363	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1041164	chr16:12625727-12637908	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1054084	chr16:12625727-12650247	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12603200-12626400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr16:12605800-12632200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr16:12606000-12632000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr16:12606200-12632400	Weak transcription	Right Atrium	heart
5	chr16:12608000-12632400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:12610000-12632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:12610800-12632200	Weak transcription	Psoas Muscle	Psoas
8	chr16:12611600-12632400	Weak transcription	Left Ventricle	heart
9	chr16:12612400-12626600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:12612400-12626600	Weak transcription	Right Ventricle	heart
11	chr16:12612400-12632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:12612600-12626400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
14	chr16:12616000-12626600	Weak transcription	Thymus	Thymus
15	chr16:12617000-12626600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr16:12617400-12627000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr16:12619000-12632200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr16:12619800-12632000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr16:12620600-12630200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:12621000-12632400	Weak transcription	Adipose Nuclei	Adipose
21	chr16:12621600-12628000	Weak transcription	GM12878-XiMat	blood
22	chr16:12623600-12627200	Enhancers	Brain Hippocampus Middle	brain
23	chr16:12623800-12627000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr16:12623800-12627400	Enhancers	Brain Substantia Nigra	brain
25	chr16:12624000-12631600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:12624000-12632000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr16:12624000-12632400	Weak transcription	Aorta	Aorta
28	chr16:12624000-12632600	Weak transcription	Lung	lung
29	chr16:12624200-12626600	Weak transcription	Primary T cells from cord blood	blood
30	chr16:12624200-12627000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr16:12624800-12627200	Enhancers	Brain Cingulate Gyrus	brain
32	chr16:12625400-12626600	Weak transcription	Fetal Thymus	thymus
33	chr16:12625400-12626800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr16:12625400-12627200	Enhancers	Brain Angular Gyrus	brain
35	chr16:12625400-12633400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr16:12625600-12626600	Strong transcription	Primary B cells from cord blood	blood
37	chr16:12625600-12626600	Weak transcription	Esophagus	oesophagus
38	chr16:12625600-12627000	Enhancers	Brain Anterior Caudate	brain
39	chr16:12625600-12627000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:12625600-12627200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr16:12625600-12630600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr16:12625600-12630600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:12625600-12632400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr16:12625800-12626400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr16:12625800-12626400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr16:12625800-12628000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr16:12625800-12629800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr16:12625800-12643400	Weak transcription	Gastric	stomach
49	chr16:12626000-12627400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:12626000-12632400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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