Variant report

Variant	rs6469664
Chromosome Location	chr8:117868306-117868307
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:117865968-117869121	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:117863720..117865712-chr8:117867548..117870657,3	K562	blood:
2	chr8:117867146..117869223-chr8:117871720..117874230,2	MCF-7	breast:
3	chr8:117855745..117858425-chr8:117866524..117868307,3	K562	blood:
4	chr8:117867096..117869266-chr8:117885533..117887072,2	MCF-7	breast:

Variant related genes	Relation type
RAD21	TF binding region
ENSG00000164754	Chromatin interaction
ENSG00000264875	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10094803	1.00[EUR][1000 genomes]
rs10282816	1.00[EUR][1000 genomes]
rs10283144	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10283150	1.00[EUR][1000 genomes]
rs11990712	1.00[EUR][1000 genomes]
rs12543129	1.00[EUR][1000 genomes]
rs12548895	1.00[EUR][1000 genomes]
rs1348797	1.00[EUR][1000 genomes]
rs14795	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16888925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16888945	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16889007	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16889037	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16889074	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16889209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16889218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16889220	1.00[EUR][1000 genomes]
rs16889226	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17435846	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17435860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1838839	1.00[EUR][1000 genomes]
rs2241981	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2241982	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2289937	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs28462971	1.00[EUR][1000 genomes]
rs2921771	1.00[EUR][1000 genomes]
rs2921782	1.00[EUR][1000 genomes]
rs2921783	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2921784	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2921785	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2921787	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2921788	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2921790	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3020111	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3020125	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3020128	1.00[EUR][1000 genomes]
rs3020130	1.00[EUR][1000 genomes]
rs3020131	1.00[EUR][1000 genomes]
rs3020133	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3020135	1.00[EUR][1000 genomes]
rs3020138	1.00[EUR][1000 genomes]
rs3020139	1.00[EUR][1000 genomes]
rs3020181	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs55952416	1.00[EUR][1000 genomes]
rs56095633	1.00[EUR][1000 genomes]
rs57202151	1.00[EUR][1000 genomes]
rs6993568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820245	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824338	1.00[YRI][hapmap]
rs7831930	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7836088	1.00[EUR][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	chr8:117854800-117875000	Strong transcription	Dnd41	blood
4	chr8:117855200-117870400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:117855400-117872800	Strong transcription	Stomach Smooth Muscle	stomach
6	chr8:117856000-117870600	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr8:117856000-117872800	Strong transcription	Fetal Intestine Large	intestine
8	chr8:117856000-117873000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:117856000-117874000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:117856200-117869400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:117856200-117872000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:117856200-117873800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr8:117856200-117877000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:117856400-117873000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:117856400-117873000	Strong transcription	Liver	Liver
16	chr8:117856400-117875200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:117856400-117878400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr8:117856400-117879000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr8:117856400-117882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:117856600-117875400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:117856600-117875800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:117856800-117874200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:117856800-117875000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:117856800-117877600	Strong transcription	HSMM	muscle
25	chr8:117856800-117878800	Strong transcription	Fetal Thymus	thymus
26	chr8:117857000-117879200	Strong transcription	Hela-S3	cervix
27	chr8:117857200-117875800	Strong transcription	HUVEC	blood vessel
28	chr8:117857200-117878000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:117857400-117872800	Strong transcription	Fetal Muscle Leg	muscle
30	chr8:117857400-117875200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:117857400-117877600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr8:117857600-117871600	Strong transcription	NH-A	brain
33	chr8:117857600-117873400	Strong transcription	Placenta	Placenta
34	chr8:117857600-117875200	Strong transcription	A549	lung
35	chr8:117857600-117878400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr8:117857800-117875600	Strong transcription	HMEC	breast
37	chr8:117858000-117870800	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:117858000-117875200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:117858000-117879000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr8:117858200-117878400	Strong transcription	Primary B cells from cord blood	blood
41	chr8:117858400-117870400	Strong transcription	Adipose Nuclei	Adipose
42	chr8:117858400-117871000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:117858400-117871000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:117858400-117875000	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:117858400-117875800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:117858600-117870400	Strong transcription	Left Ventricle	heart
47	chr8:117858600-117873400	Strong transcription	Fetal Lung	lung
48	chr8:117858600-117873400	Strong transcription	HepG2	liver
49	chr8:117858600-117874200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:117858600-117875400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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