Variant report

Variant	rs183999716
Chromosome Location	chr8:118971097-118971098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118960600-118971200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:118966600-118971400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:118966800-118971400	Weak transcription	Pancreas	Pancrea
4	chr8:118966800-118971800	Weak transcription	Right Ventricle	heart
5	chr8:118967000-118972200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:118967200-118971800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:118967400-118971800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:118967600-118971600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:118968200-118971600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:118968800-118972800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:118969000-118971600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:118969000-118971800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:118969000-118972200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:118969000-118974600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:118969200-118971400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:118969200-118972200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:118969200-118972800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:118969400-118971400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:118969600-118971400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:118969800-118971200	Weak transcription	Esophagus	oesophagus
21	chr8:118969800-118971400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:118969800-118971400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:118969800-118971400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:118969800-118971400	Flanking Active TSS	NHDF-Ad	bronchial
25	chr8:118969800-118986800	Weak transcription	Lung	lung
26	chr8:118970000-118971200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:118970000-118971200	Weak transcription	Aorta	Aorta
28	chr8:118970000-118971200	Weak transcription	Psoas Muscle	Psoas
29	chr8:118970000-118971400	Weak transcription	Left Ventricle	heart
30	chr8:118970000-118971400	Weak transcription	Ovary	ovary
31	chr8:118970000-118971800	Enhancers	Fetal Intestine Small	intestine
32	chr8:118970000-118971800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:118970000-118972200	Enhancers	NHLF	lung
34	chr8:118970000-118973000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:118970000-118973000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:118970000-118973200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr8:118970000-118975200	Weak transcription	Right Atrium	heart
38	chr8:118970200-118971200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:118970200-118971200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:118970200-118971200	Weak transcription	Small Intestine	intestine
41	chr8:118970200-118971600	Enhancers	HepG2	liver
42	chr8:118970200-118971600	Enhancers	Osteobl	bone
43	chr8:118970200-118972200	Enhancers	NHEK	skin
44	chr8:118970200-118973000	Weak transcription	HMEC	breast
45	chr8:118970200-118981800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:118970400-118971200	Weak transcription	Fetal Heart	heart
47	chr8:118970400-118971400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:118970400-118971400	Weak transcription	NH-A	brain
49	chr8:118970400-118972200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:118970400-118972200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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