Variant report

Variant	rs11984783
Chromosome Location	chr8:117875220-117875221
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	chr8:117857343..117862802-chr8:117868488..117876053,7	K562	blood:
2	chr8:117857607..117860460-chr8:117874420..117876566,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164754	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11986244	1.00[AMR][1000 genomes]
rs11988252	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988890	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11992843	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11993461	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995008	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996899	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11998115	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888867	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888873	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888957	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888968	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888995	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889027	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889103	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889160	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17435839	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34316616	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58084260	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61637286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117852400-117877000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:117853000-117881400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:117856200-117877000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:117856400-117878400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr8:117856400-117879000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr8:117856400-117882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:117856600-117875400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:117856600-117875800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:117856800-117877600	Strong transcription	HSMM	muscle
10	chr8:117856800-117878800	Strong transcription	Fetal Thymus	thymus
11	chr8:117857000-117879200	Strong transcription	Hela-S3	cervix
12	chr8:117857200-117875800	Strong transcription	HUVEC	blood vessel
13	chr8:117857200-117878000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:117857400-117877600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr8:117857600-117878400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr8:117857800-117875600	Strong transcription	HMEC	breast
17	chr8:117858000-117879000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr8:117858200-117878400	Strong transcription	Primary B cells from cord blood	blood
19	chr8:117858400-117875800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:117858600-117875400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:117858600-117875600	Strong transcription	NHDF-Ad	bronchial
22	chr8:117858600-117875600	Strong transcription	NHEK	skin
23	chr8:117859000-117875400	Strong transcription	Primary T cells from cord blood	blood
24	chr8:117859600-117883800	Weak transcription	Stomach Mucosa	stomach
25	chr8:117860400-117885800	Weak transcription	Esophagus	oesophagus
26	chr8:117862000-117876200	Strong transcription	HSMMtube	muscle
27	chr8:117862200-117875800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:117862200-117877600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:117862400-117875800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:117863400-117875600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:117864400-117875600	Weak transcription	Small Intestine	intestine
32	chr8:117864400-117882400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:117864400-117885800	Weak transcription	Gastric	stomach
34	chr8:117864800-117875600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:117864800-117878400	Weak transcription	Aorta	Aorta
36	chr8:117864800-117884000	Weak transcription	Right Ventricle	heart
37	chr8:117865200-117882400	Weak transcription	Lung	lung
38	chr8:117865200-117885800	Weak transcription	Pancreas	Pancrea
39	chr8:117865600-117881600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:117865600-117885800	Weak transcription	Spleen	Spleen
41	chr8:117866800-117878200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr8:117867000-117885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:117867000-117885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:117868600-117881000	Weak transcription	Fetal Brain Male	brain
45	chr8:117869000-117875600	Weak transcription	Psoas Muscle	Psoas
46	chr8:117869000-117878200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:117869600-117875400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:117869800-117878800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:117870000-117884400	Weak transcription	Colonic Mucosa	Colon
50	chr8:117870200-117884800	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links