Variant report

Variant	rs11596218
Chromosome Location	chr10:23001197-23001198
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:22999547..23001399-chr10:23341048..23342925,2	K562	blood:
2	chr10:22999547..23001404-chr10:23340712..23342548,2	K562	blood:
3	chr10:22905924..22908510-chr10:23000876..23002578,2	K562	blood:
4	chr10:22953464..22956481-chr10:22999741..23002398,3	K562	blood:
5	chr10:22953464..22955695-chr10:22999741..23002001,2	K562	blood:
6	chr10:22998249..23002075-chr10:23006218..23008231,3	K562	blood:
7	chr10:22606981..22611063-chr10:23000780..23004970,4	K562	blood:
8	chr10:22974896..22977203-chr10:22998559..23001394,2	K562	blood:
9	chr10:22919598..22921406-chr10:23000805..23002605,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269897	Chromatin interaction
ENSG00000168283	Chromatin interaction
ENSG00000148444	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11013098	0.83[ASN][1000 genomes]
rs11013113	0.95[ASN][1000 genomes]
rs1132816	0.94[EUR][1000 genomes]
rs11592199	0.83[ASN][1000 genomes]
rs12255136	0.89[ASN][1000 genomes]
rs12257665	0.83[ASN][1000 genomes]
rs12266181	0.83[ASN][1000 genomes]
rs12778869	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17527491	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs34032638	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34303686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34729599	0.83[ASN][1000 genomes]
rs35027263	0.95[ASN][1000 genomes]
rs58647212	0.89[ASN][1000 genomes]
rs71491932	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7923171	0.95[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	esv1830947	chr10:22881196-23004381	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv831809	chr10:22918101-23069676	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22975600-23001200	Weak transcription	Colonic Mucosa	Colon
2	chr10:22983200-23001200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:22983200-23001400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:22987200-23001600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr10:22987200-23001600	Weak transcription	Ovary	ovary
6	chr10:22988600-23001600	Weak transcription	Fetal Intestine Small	intestine
7	chr10:22989600-23001800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:22989600-23001800	Weak transcription	Pancreas	Pancrea
9	chr10:22990600-23001800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:22990800-23001400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr10:22990800-23001600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:22990800-23001600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:22991200-23001600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:22992200-23001800	Weak transcription	Gastric	stomach
15	chr10:22997200-23001200	Enhancers	Primary B cells from peripheral blood	blood
16	chr10:22997400-23003800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr10:22997800-23001600	Weak transcription	Right Ventricle	heart
18	chr10:22998000-23001800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:22998600-23003800	Active TSS	Brain Hippocampus Middle	brain
20	chr10:22999000-23001200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr10:22999000-23001600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr10:22999000-23001600	Enhancers	Colon Smooth Muscle	Colon
23	chr10:22999000-23002200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:22999000-23003800	Active TSS	Brain Substantia Nigra	brain
25	chr10:22999200-23001200	Enhancers	Dnd41	blood
26	chr10:22999200-23001600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr10:22999200-23001800	Enhancers	Fetal Heart	heart
28	chr10:22999400-23004000	Active TSS	Brain Angular Gyrus	brain
29	chr10:22999600-23001200	Weak transcription	Fetal Muscle Leg	muscle
30	chr10:22999600-23001600	Weak transcription	Left Ventricle	heart
31	chr10:22999600-23001600	Weak transcription	Lung	lung
32	chr10:22999600-23001600	Weak transcription	Psoas Muscle	Psoas
33	chr10:22999600-23001800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:22999600-23001800	Weak transcription	Esophagus	oesophagus
35	chr10:22999600-23001800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr10:22999600-23001800	Weak transcription	Spleen	Spleen
37	chr10:22999600-23002000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:22999600-23002400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:22999800-23001200	Enhancers	Liver	Liver
40	chr10:22999800-23001200	Enhancers	Stomach Smooth Muscle	stomach
41	chr10:22999800-23001200	Enhancers	HSMM	muscle
42	chr10:23000000-23001200	Enhancers	HSMMtube	muscle
43	chr10:23000000-23001400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:23000000-23002000	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr10:23000000-23003800	Active TSS	Brain Cingulate Gyrus	brain
46	chr10:23000200-23001400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr10:23000200-23001600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:23000200-23002000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr10:23000200-23002200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr10:23000200-23003800	Active TSS	Primary T cells fromperipheralblood	blood

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