Variant report

Variant	rs73312388
Chromosome Location	chr8:119139097-119139098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17477608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17477678	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17506496	1.00[AMR][1000 genomes]
rs17506503	1.00[AMR][1000 genomes]
rs17506510	1.00[AMR][1000 genomes]
rs17506517	1.00[AMR][1000 genomes]
rs28365474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7012942	0.84[AFR][1000 genomes]
rs7015744	1.00[AMR][1000 genomes]
rs7015921	1.00[AMR][1000 genomes]
rs7015975	1.00[AMR][1000 genomes]
rs7016032	0.87[AFR][1000 genomes]

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	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
2	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
3	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
4	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
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119125800-119149600	Weak transcription	Aorta	Aorta
2	chr8:119137400-119139600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:119137600-119139800	Enhancers	Fetal Muscle Trunk	muscle
4	chr8:119138200-119139200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:119138200-119139600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:119138200-119139600	Enhancers	Fetal Muscle Leg	muscle
7	chr8:119138200-119139800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:119138400-119139200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:119138400-119139400	Enhancers	Stomach Mucosa	stomach
10	chr8:119138600-119139200	Enhancers	Small Intestine	intestine
11	chr8:119138600-119139400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:119138600-119139400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:119138600-119139400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr8:119138600-119139400	Enhancers	NHEK	skin
15	chr8:119138600-119139400	Enhancers	NHLF	lung
16	chr8:119138600-119139600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:119138600-119139600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:119138600-119139600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr8:119138600-119139600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:119138600-119139600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:119138600-119139600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:119138600-119139600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:119138600-119139600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:119138600-119139600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr8:119138600-119139600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr8:119138600-119139600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:119138600-119139600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:119138600-119139600	Enhancers	Lung	lung
29	chr8:119138600-119139600	Enhancers	HSMM	muscle
30	chr8:119138600-119139800	Enhancers	Fetal Thymus	thymus
31	chr8:119138600-119140000	Enhancers	Primary B cells from peripheral blood	blood
32	chr8:119138800-119139200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:119138800-119139200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:119138800-119139400	Enhancers	Primary hematopoietic stem cells	blood
35	chr8:119138800-119139400	Enhancers	Esophagus	oesophagus
36	chr8:119138800-119139400	Enhancers	Placenta Amnion	Placenta Amnion
37	chr8:119138800-119139400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr8:119138800-119139600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:119138800-119139600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr8:119138800-119139600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:119138800-119139600	Enhancers	Fetal Lung	lung
42	chr8:119138800-119139600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr8:119138800-119139600	Enhancers	HUVEC	blood vessel
44	chr8:119138800-119139600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr8:119139000-119139200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr8:119139000-119139200	Enhancers	Brain Angular Gyrus	brain
47	chr8:119139000-119139400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:119139000-119139400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:119139000-119139400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr8:119139000-119139400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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