Variant report

Variant	rs559447983
Chromosome Location	chr16:12633238-12633239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12633130..12635327-chr16:12640812..12643626,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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
14	nsv431433	chr16:12628409-12654408	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv1842867	chr16:12632286-12678721	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1039338	chr16:12632918-12642955	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv1040887	chr16:12632918-12650247	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12625400-12633400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr16:12625800-12643400	Weak transcription	Gastric	stomach
4	chr16:12626600-12634600	Weak transcription	Primary B cells from cord blood	blood
5	chr16:12626800-12636000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:12627000-12642200	Weak transcription	Right Ventricle	heart
7	chr16:12627400-12635800	Weak transcription	Fetal Brain Male	brain
8	chr16:12628200-12633400	Enhancers	Primary B cells from peripheral blood	blood
9	chr16:12630400-12637000	Weak transcription	Primary T cells from cord blood	blood
10	chr16:12630400-12638800	Weak transcription	Fetal Thymus	thymus
11	chr16:12630600-12637200	Weak transcription	Spleen	Spleen
12	chr16:12631400-12633600	Enhancers	Brain Anterior Caudate	brain
13	chr16:12631600-12633600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:12632000-12633400	Enhancers	Stomach Smooth Muscle	stomach
15	chr16:12632000-12633600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:12632000-12633800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:12632000-12633800	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr16:12632000-12634000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:12632000-12634200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:12632000-12635400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr16:12632200-12633400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:12632200-12633600	Enhancers	Brain Substantia Nigra	brain
23	chr16:12632200-12633600	Enhancers	Esophagus	oesophagus
24	chr16:12632200-12633800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:12632200-12633800	Enhancers	HSMMtube	muscle
26	chr16:12632200-12633800	Enhancers	NH-A	brain
27	chr16:12632200-12634000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr16:12632200-12634200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:12632200-12634200	Enhancers	NHDF-Ad	bronchial
30	chr16:12632200-12634400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr16:12632200-12634600	Enhancers	HSMM	muscle
32	chr16:12632200-12635000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr16:12632400-12633600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr16:12632400-12633600	Enhancers	Rectal Smooth Muscle	rectum
35	chr16:12632400-12633600	Enhancers	A549	lung
36	chr16:12632400-12633800	Enhancers	Osteobl	bone
37	chr16:12632400-12634000	Flanking Active TSS	GM12878-XiMat	blood
38	chr16:12632400-12635600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:12632600-12633400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr16:12632600-12633600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:12632600-12633600	Enhancers	K562	blood
42	chr16:12632600-12633800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr16:12632600-12634400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr16:12632800-12637000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr16:12632800-12638600	Weak transcription	Lung	lung
46	chr16:12632800-12640200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr16:12632800-12641000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:12632800-12646600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:12632800-12663800	Weak transcription	Aorta	Aorta
50	chr16:12633000-12633400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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