Variant report

Variant	rs7828075
Chromosome Location	chr8:110598688-110598689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110598326..110600037-chr8:110615498..110618470,2	K562	blood:

Variant related genes	Relation type
ENSG00000147642	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12541569	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543415	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548910	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17375750	1.00[CHB][hapmap]
rs17450206	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17450520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61734661	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469258	0.82[YRI][hapmap]
rs6469259	0.90[YRI][hapmap]
rs6469264	1.00[CHB][hapmap]
rs6982592	1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6988341	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990312	0.82[EUR][1000 genomes]
rs6995033	1.00[CHB][hapmap]
rs7000579	0.80[YRI][hapmap]
rs7008100	0.90[YRI][hapmap]
rs72669122	0.84[AFR][1000 genomes]
rs72669131	0.84[AFR][1000 genomes]
rs7813648	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824177	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7834361	0.80[YRI][hapmap]
rs7839394	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842842	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110553800-110613000	Weak transcription	NHLF	lung
2	chr8:110583800-110601600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:110586000-110598800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:110587800-110605800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:110588000-110600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:110588200-110601600	Weak transcription	Left Ventricle	heart
7	chr8:110589800-110601600	Weak transcription	Right Atrium	heart
8	chr8:110590000-110605600	Weak transcription	K562	blood
9	chr8:110590200-110654800	Weak transcription	Lung	lung
10	chr8:110591200-110601600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:110591600-110599400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:110591600-110601600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:110591600-110609400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:110592000-110601400	Weak transcription	Brain Angular Gyrus	brain
15	chr8:110592200-110601600	Weak transcription	NHEK	skin
16	chr8:110592200-110604600	Weak transcription	Gastric	stomach
17	chr8:110592400-110601800	Weak transcription	Brain Germinal Matrix	brain
18	chr8:110593600-110601400	Weak transcription	HMEC	breast
19	chr8:110594600-110598800	Enhancers	Pancreas	Pancrea
20	chr8:110594800-110606000	Weak transcription	Fetal Brain Male	brain
21	chr8:110595600-110601600	Weak transcription	Psoas Muscle	Psoas
22	chr8:110596200-110601600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:110596200-110601600	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:110596600-110599200	Enhancers	Colon Smooth Muscle	Colon
25	chr8:110596800-110608400	Enhancers	Fetal Intestine Large	intestine
26	chr8:110597200-110601000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:110597200-110601400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:110597400-110599000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr8:110597800-110599000	Enhancers	Brain Hippocampus Middle	brain
30	chr8:110597800-110601400	Weak transcription	Adipose Nuclei	Adipose
31	chr8:110597800-110608400	Enhancers	Fetal Intestine Small	intestine
32	chr8:110598000-110598800	Enhancers	Stomach Mucosa	stomach
33	chr8:110598000-110600600	Weak transcription	HepG2	liver
34	chr8:110598200-110598800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:110598200-110598800	Enhancers	Brain Cingulate Gyrus	brain
36	chr8:110598200-110598800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr8:110598200-110598800	Enhancers	Ovary	ovary
38	chr8:110598200-110598800	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr8:110598200-110599800	Weak transcription	Small Intestine	intestine
40	chr8:110598200-110601600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:110598400-110598800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:110598400-110598800	Genic enhancers	Brain Anterior Caudate	brain
43	chr8:110598400-110598800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:110598400-110598800	Enhancers	Right Ventricle	heart
45	chr8:110598400-110601600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:110598400-110602800	Enhancers	Liver	Liver
47	chr8:110598400-110605800	Weak transcription	Fetal Brain Female	brain
48	chr8:110598400-110607800	Weak transcription	Esophagus	oesophagus
49	chr8:110598600-110598800	Enhancers	Colonic Mucosa	Colon
50	chr8:110598600-110599400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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