Variant report

Variant	rs116947125
Chromosome Location	chr5:16857698-16857699
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16848554..16850179-chr5:16855617..16858396,2	K562	blood:

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	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1030550	chr5:16748966-16872084	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
4	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1026773	chr5:16846836-16877367	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1034844	chr5:16854341-16903100	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3485757	chr5:16856475-16966851	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv3485758	chr5:16856475-16966851	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16839000-16864600	Weak transcription	Fetal Brain Female	brain
2	chr5:16842400-16862800	Weak transcription	Stomach Mucosa	stomach
3	chr5:16852400-16858200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:16853000-16860600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:16853600-16858000	Enhancers	HSMMtube	muscle
6	chr5:16854000-16859000	Weak transcription	Fetal Intestine Large	intestine
7	chr5:16854000-16862600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:16854600-16858000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:16854800-16858400	Enhancers	Fetal Muscle Leg	muscle
10	chr5:16855000-16858000	Enhancers	NHDF-Ad	bronchial
11	chr5:16855000-16858200	Enhancers	NHLF	lung
12	chr5:16855000-16859000	Enhancers	Fetal Stomach	stomach
13	chr5:16855200-16858000	Weak transcription	Fetal Brain Male	brain
14	chr5:16855200-16858200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:16855200-16858800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:16855600-16857800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:16855600-16858000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:16855600-16858000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:16855600-16858000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:16855600-16858200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:16855600-16858200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:16855600-16858800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:16855800-16857800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:16855800-16863000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr5:16856000-16858000	Weak transcription	Fetal Kidney	kidney
26	chr5:16856000-16858600	Genic enhancers	A549	lung
27	chr5:16856000-16861800	Weak transcription	Pancreas	Pancrea
28	chr5:16856000-16862200	Weak transcription	Ovary	ovary
29	chr5:16856000-16863000	Weak transcription	Gastric	stomach
30	chr5:16856000-16867000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:16856200-16857800	Weak transcription	Fetal Intestine Small	intestine
32	chr5:16856200-16857800	Enhancers	HUVEC	blood vessel
33	chr5:16856200-16858000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr5:16856200-16862800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:16856400-16858200	Enhancers	NHEK	skin
36	chr5:16856400-16860000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr5:16856400-16864600	Weak transcription	NH-A	brain
38	chr5:16856600-16858000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:16856600-16858400	Weak transcription	Fetal Lung	lung
40	chr5:16856600-16858600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:16856600-16862200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:16856800-16858000	Enhancers	Placenta	Placenta
43	chr5:16856800-16863000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr5:16857000-16857800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr5:16857000-16857800	Weak transcription	Lung	lung
46	chr5:16857000-16858000	Weak transcription	Fetal Thymus	thymus
47	chr5:16857000-16858200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:16857000-16858200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:16857000-16860800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:16857000-16862200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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