Variant report

Variant	rs76385589
Chromosome Location	chr16:12625579-12625580
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:61 , 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	chr16:12607000-12625600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr16:12607800-12626200	Weak transcription	Brain Germinal Matrix	brain
7	chr16:12608000-12632400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr16:12610000-12632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:12610800-12632200	Weak transcription	Psoas Muscle	Psoas
10	chr16:12611600-12632400	Weak transcription	Left Ventricle	heart
11	chr16:12612400-12626600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:12612400-12626600	Weak transcription	Right Ventricle	heart
13	chr16:12612400-12632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:12612600-12626400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
16	chr16:12616000-12626600	Weak transcription	Thymus	Thymus
17	chr16:12617000-12626600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr16:12617400-12627000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:12618600-12626200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr16:12619000-12626000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr16:12619000-12632200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr16:12619800-12632000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr16:12620600-12630200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr16:12621000-12632400	Weak transcription	Adipose Nuclei	Adipose
25	chr16:12621600-12625800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:12621600-12628000	Weak transcription	GM12878-XiMat	blood
27	chr16:12622400-12625800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:12623000-12625600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr16:12623600-12625600	Enhancers	Duodenum Mucosa	Duodenum
30	chr16:12623600-12627200	Enhancers	Brain Hippocampus Middle	brain
31	chr16:12623800-12627000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr16:12623800-12627400	Enhancers	Brain Substantia Nigra	brain
33	chr16:12624000-12625600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr16:12624000-12631600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr16:12624000-12632000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr16:12624000-12632400	Weak transcription	Aorta	Aorta
37	chr16:12624000-12632600	Weak transcription	Lung	lung
38	chr16:12624200-12625600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr16:12624200-12625600	Weak transcription	Brain Anterior Caudate	brain
40	chr16:12624200-12625800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:12624200-12626600	Weak transcription	Primary T cells from cord blood	blood
42	chr16:12624200-12627000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr16:12624400-12625600	Weak transcription	HepG2	liver
44	chr16:12624800-12626000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr16:12624800-12627200	Enhancers	Brain Cingulate Gyrus	brain
46	chr16:12625000-12626200	Enhancers	Spleen	Spleen
47	chr16:12625200-12625600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:12625200-12625600	Enhancers	Esophagus	oesophagus
49	chr16:12625200-12626000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:12625400-12625600	Weak transcription	Primary B cells from cord blood	blood

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