Variant report

Variant	rs2178230
Chromosome Location	chr8:90943198-90943199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90914612..90916300-chr8:90942027..90944223,2	MCF-7	breast:
2	chr8:90769245..90771137-chr8:90942395..90944244,3	MCF-7	breast:
3	chr8:90939323..90942734-chr8:90943165..90947331,4	K562	blood:
4	chr8:90934420..90937604-chr8:90939539..90943396,5	MCF-7	breast:
5	chr8:90912438..90917560-chr8:90937819..90943443,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164823	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000104312	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10435548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10464867	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10504884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13312971	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13312986	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16901429	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16901695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2284135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90915400-90966800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:90915600-90950800	Weak transcription	Stomach Mucosa	stomach
3	chr8:90915800-90995000	Weak transcription	Fetal Brain Male	brain
4	chr8:90916000-90961400	Weak transcription	Fetal Heart	heart
5	chr8:90916600-90969600	Weak transcription	Brain Substantia Nigra	brain
6	chr8:90917600-90953600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr8:90917600-90975400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:90918800-90951800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:90924800-90986600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:90925400-90945000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:90925400-90952000	Weak transcription	Fetal Intestine Small	intestine
12	chr8:90925400-90956600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:90925400-90970200	Weak transcription	Pancreas	Pancrea
14	chr8:90925400-90979200	Weak transcription	Gastric	stomach
15	chr8:90925600-90961600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:90925600-90967200	Weak transcription	Colonic Mucosa	Colon
17	chr8:90925600-90975200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:90927000-90978000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:90927200-90964200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:90927600-90988400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:90927800-90945000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr8:90927800-90945000	Weak transcription	Fetal Lung	lung
23	chr8:90927800-90946600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:90927800-90951800	Weak transcription	Osteobl	bone
25	chr8:90927800-90963800	Weak transcription	NHEK	skin
26	chr8:90927800-90969800	Weak transcription	Esophagus	oesophagus
27	chr8:90927800-90970200	Weak transcription	Spleen	Spleen
28	chr8:90927800-90970400	Weak transcription	Right Ventricle	heart
29	chr8:90927800-90996000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:90928000-90965200	Weak transcription	Fetal Kidney	kidney
31	chr8:90928000-90970400	Weak transcription	Small Intestine	intestine
32	chr8:90929200-90944800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:90929200-90961400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:90929400-90966000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:90929600-90945000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:90929600-90946600	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:90929800-90951200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:90931600-90965200	Weak transcription	HepG2	liver
39	chr8:90932000-90952400	Weak transcription	NHLF	lung
40	chr8:90933800-90945000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:90934000-90965400	Weak transcription	Fetal Brain Female	brain
42	chr8:90935400-90951400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:90935800-90943800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr8:90937200-90946600	Weak transcription	Brain Angular Gyrus	brain
45	chr8:90937200-90969800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:90937200-90970400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:90937200-90970400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:90937600-90943200	Weak transcription	Primary B cells from cord blood	blood
49	chr8:90937600-90944800	Weak transcription	Primary T cells from cord blood	blood
50	chr8:90937600-90944800	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links