Variant report

Variant	rs11239299
Chromosome Location	chr10:45469719-45469720
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:45442718..45444232-chr10:45467688..45470115,2	MCF-7	breast:
2	chr10:45425100..45428084-chr10:45468881..45470918,3	K562	blood:
3	chr10:45466696..45473467-chr10:45492241..45499604,15	K562	blood:
4	chr10:45468966..45470548-chr10:45472555..45474285,2	MCF-7	breast:
5	chr10:45469560..45475620-chr10:45475961..45481693,7	MCF-7	breast:
6	chr10:45463326..45466308-chr10:45468045..45470693,6	MCF-7	breast:
7	chr10:45443298..45445238-chr10:45469155..45471485,2	MCF-7	breast:
8	chr10:45467811..45472693-chr10:45495081..45499604,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000107551	Chromatin interaction
ENSG00000187783	Chromatin interaction
ENSG00000165512	Chromatin interaction
ENSG00000165507	Chromatin interaction
ENSG00000165511	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11239305	1.00[AMR][1000 genomes]
rs11239306	1.00[AMR][1000 genomes]
rs11239307	1.00[AMR][1000 genomes]
rs11239308	1.00[AMR][1000 genomes]
rs11239309	1.00[AMR][1000 genomes]
rs12359954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2274888	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35521977	1.00[AMR][1000 genomes]
rs3758399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3758400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41301599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41301601	1.00[AMR][1000 genomes]
rs41301611	1.00[AMR][1000 genomes]
rs41306544	1.00[AMR][1000 genomes]
rs41306546	1.00[AMR][1000 genomes]
rs59381196	1.00[AMR][1000 genomes]
rs61269477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv526734	chr10:45458485-45492054	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45460000-45470000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:45460400-45469800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr10:45462000-45469800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:45464200-45469800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:45464200-45469800	Weak transcription	Osteobl	bone
6	chr10:45464400-45469800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr10:45464600-45470000	Weak transcription	Fetal Kidney	kidney
8	chr10:45464600-45470000	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr10:45464800-45469800	Weak transcription	NHLF	lung
10	chr10:45464800-45470000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:45465000-45470200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr10:45465200-45470000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr10:45465800-45470000	Weak transcription	Psoas Muscle	Psoas
14	chr10:45466800-45470200	Genic enhancers	HSMMtube	muscle
15	chr10:45467000-45470000	Genic enhancers	Fetal Muscle Leg	muscle
16	chr10:45467200-45470000	Enhancers	Right Atrium	heart
17	chr10:45467800-45470400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:45468000-45470000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:45468000-45471800	Enhancers	Fetal Heart	heart
20	chr10:45468200-45469800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr10:45468200-45469800	Enhancers	Primary B cells from peripheral blood	blood
22	chr10:45468200-45470000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:45468200-45470000	Enhancers	Fetal Thymus	thymus
24	chr10:45468200-45470000	Enhancers	HSMM	muscle
25	chr10:45468400-45469800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr10:45468400-45469800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr10:45468400-45469800	Genic enhancers	Brain Cingulate Gyrus	brain
28	chr10:45468400-45469800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:45468400-45469800	Enhancers	Fetal Intestine Large	intestine
30	chr10:45468400-45469800	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr10:45468400-45470000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr10:45468400-45470000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:45468400-45470000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr10:45468400-45470000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:45468400-45470000	Enhancers	Primary B cells from cord blood	blood
36	chr10:45468400-45470000	Enhancers	Placenta	Placenta
37	chr10:45468400-45470000	Enhancers	Lung	lung
38	chr10:45468400-45470200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:45468600-45469800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr10:45468600-45469800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr10:45468600-45469800	Enhancers	Esophagus	oesophagus
42	chr10:45468600-45470000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr10:45468600-45470000	Genic enhancers	Pancreas	Pancrea
44	chr10:45468600-45470000	Enhancers	Stomach Mucosa	stomach
45	chr10:45468600-45470200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr10:45468600-45471400	Enhancers	Gastric	stomach
47	chr10:45468600-45471600	Enhancers	Dnd41	blood
48	chr10:45468800-45469800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr10:45468800-45469800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr10:45468800-45469800	Enhancers	Brain Anterior Caudate	brain

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