Variant report

Variant	rs11101305
Chromosome Location	chr10:49573220-49573221
allele	A/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49559917..49561809-chr10:49572353..49575219,2	MCF-7	breast:
2	chr10:49570710..49573542-chr10:49731665..49733795,2	K562	blood:
3	chr10:49571674..49573268-chr10:49594315..49596996,2	K562	blood:
4	chr10:49571808..49574150-chr10:49719322..49721879,2	K562	blood:
5	chr10:49514674..49516304-chr10:49572941..49576035,3	K562	blood:
6	chr10:49571145..49574084-chr10:49715215..49717894,2	MCF-7	breast:
7	chr10:49514736..49516634-chr10:49571797..49574656,2	K562	blood:
8	chr10:49571896..49573651-chr10:49713045..49714727,3	K562	blood:
9	chr10:49570196..49573404-chr10:49729951..49734102,5	K562	blood:
10	chr10:49571889..49574086-chr10:49706276..49707792,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248682	Chromatin interaction
ENSG00000107643	Chromatin interaction
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10437450	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12247352	0.84[AFR][1000 genomes]
rs12252051	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12252584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12253913	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12254206	1.00[AFR][1000 genomes]
rs12258885	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12268725	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17009978	1.00[AMR][1000 genomes]
rs17010452	0.92[YRI][hapmap];1.00[AFR][1000 genomes]
rs3730159	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49543000-49576200	Weak transcription	Right Atrium	heart
2	chr10:49566400-49580000	Weak transcription	Colon Smooth Muscle	Colon
3	chr10:49568600-49582000	Weak transcription	Psoas Muscle	Psoas
4	chr10:49568800-49576400	Weak transcription	Ovary	ovary
5	chr10:49569400-49574400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:49571200-49573600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr10:49571200-49573600	Enhancers	Liver	Liver
8	chr10:49571200-49573600	Enhancers	K562	blood
9	chr10:49571200-49574600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:49571800-49573400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr10:49571800-49573400	Enhancers	Primary T cells from cord blood	blood
12	chr10:49571800-49573400	Enhancers	Brain Hippocampus Middle	brain
13	chr10:49571800-49573400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr10:49571800-49573400	Enhancers	Dnd41	blood
15	chr10:49571800-49573600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr10:49571800-49573600	Enhancers	Adipose Nuclei	Adipose
17	chr10:49571800-49573600	Enhancers	NH-A	brain
18	chr10:49571800-49573800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:49571800-49573800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr10:49571800-49573800	Flanking Active TSS	A549	lung
21	chr10:49571800-49573800	Enhancers	HepG2	liver
22	chr10:49571800-49574000	Enhancers	Fetal Kidney	kidney
23	chr10:49571800-49574000	Enhancers	Osteobl	bone
24	chr10:49571800-49574200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr10:49571800-49574200	Flanking Active TSS	HUVEC	blood vessel
26	chr10:49571800-49574400	Enhancers	NHEK	skin
27	chr10:49571800-49574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:49571800-49574600	Enhancers	Primary hematopoietic stem cells	blood
29	chr10:49571800-49574600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr10:49571800-49574600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:49571800-49574600	Enhancers	Fetal Lung	lung
32	chr10:49571800-49574600	Enhancers	NHDF-Ad	bronchial
33	chr10:49571800-49574600	Enhancers	NHLF	lung
34	chr10:49571800-49574800	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr10:49572000-49573600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:49572000-49574000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:49572000-49574000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr10:49572000-49574400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr10:49572000-49574600	Enhancers	HMEC	breast
40	chr10:49572000-49577000	Weak transcription	Fetal Heart	heart
41	chr10:49572200-49573400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr10:49572200-49573400	Weak transcription	Brain Angular Gyrus	brain
43	chr10:49572200-49574600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:49572200-49575800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr10:49572200-49585600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr10:49572600-49573400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr10:49572600-49573600	Enhancers	Brain Substantia Nigra	brain
48	chr10:49572800-49573400	Enhancers	Hela-S3	cervix
49	chr10:49572800-49573600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr10:49572800-49573800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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