Variant report

Variant	rs559081178
Chromosome Location	chr16:12209022-12209023
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12207504..12209871-chr16:12211621..12214983,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	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
3	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv977111	chr16:12161129-12220593	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1039492	chr16:12176517-12210702	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv571460	chr16:12181702-12238602	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1052973	chr16:12188092-12307880	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1042146	chr16:12208242-12256699	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12184400-12231200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:12186800-12213400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:12189800-12209600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:12189800-12220400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr16:12190000-12220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:12190000-12220400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr16:12190200-12210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:12190800-12210600	Weak transcription	Pancreas	Pancrea
9	chr16:12191200-12223200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr16:12191400-12213600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr16:12192000-12213800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:12192000-12214600	Weak transcription	Right Atrium	heart
13	chr16:12192400-12210400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:12192400-12213200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:12192400-12213200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr16:12192800-12213600	Weak transcription	Adipose Nuclei	Adipose
17	chr16:12194000-12212600	Weak transcription	Ovary	ovary
18	chr16:12194000-12213000	Weak transcription	Right Ventricle	heart
19	chr16:12194000-12215200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:12194200-12210600	Weak transcription	NHEK	skin
21	chr16:12198200-12227800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr16:12200200-12220200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr16:12200400-12209200	Weak transcription	Gastric	stomach
24	chr16:12200400-12210600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:12200400-12210600	Weak transcription	Aorta	Aorta
26	chr16:12200600-12210400	Weak transcription	Lung	lung
27	chr16:12200600-12213000	Weak transcription	Fetal Heart	heart
28	chr16:12200600-12215400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:12201000-12209200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:12201000-12210400	Weak transcription	Thymus	Thymus
31	chr16:12202000-12209400	Weak transcription	GM12878-XiMat	blood
32	chr16:12204800-12222000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr16:12205400-12210600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:12205400-12210600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr16:12205400-12213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr16:12205800-12213600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr16:12206000-12210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:12206400-12210200	Weak transcription	Fetal Stomach	stomach
39	chr16:12206800-12212600	Weak transcription	HepG2	liver
40	chr16:12207200-12213000	Weak transcription	Placenta	Placenta
41	chr16:12207200-12218400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr16:12207400-12209800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr16:12207600-12209400	Enhancers	Esophagus	oesophagus
44	chr16:12207600-12211600	Strong transcription	Primary B cells from cord blood	blood
45	chr16:12207800-12210600	Weak transcription	Fetal Brain Male	brain
46	chr16:12207800-12210600	Weak transcription	Spleen	Spleen
47	chr16:12208000-12210800	Weak transcription	Fetal Kidney	kidney
48	chr16:12208000-12221200	Weak transcription	Brain Substantia Nigra	brain
49	chr16:12208200-12210600	Weak transcription	Primary T cells from cord blood	blood
50	chr16:12208200-12212600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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