Variant report

Variant	rs9704782
Chromosome Location	chr11:46704106-46704107
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46704037..46706456-chr11:46719312..46722253,3	K562	blood:
2	chr11:46208238..46210812-chr11:46703843..46706732,2	K562	blood:

Variant related genes	Relation type
ENSG00000175220	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10769205	0.86[EUR][1000 genomes]
rs12274785	0.86[EUR][1000 genomes]
rs12361673	0.86[EUR][1000 genomes]
rs13448	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2070852	0.83[EUR][1000 genomes]
rs2282686	0.83[EUR][1000 genomes]
rs4423142	0.82[AFR][1000 genomes]
rs4606447	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4752929	0.85[EUR][1000 genomes]
rs57804402	0.85[EUR][1000 genomes]
rs7932354	0.86[EUR][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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
2	chr11:46689600-46706200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:46691600-46705600	Weak transcription	Fetal Brain Male	brain
4	chr11:46691600-46709200	Weak transcription	HUVEC	blood vessel
5	chr11:46697200-46705200	Strong transcription	Fetal Brain Female	brain
6	chr11:46697200-46705800	Strong transcription	Thymus	Thymus
7	chr11:46697200-46716000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:46697200-46721200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:46697800-46704200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:46697800-46704800	Weak transcription	Fetal Heart	heart
11	chr11:46697800-46706200	Strong transcription	Rectal Smooth Muscle	rectum
12	chr11:46697800-46709200	Strong transcription	Fetal Stomach	stomach
13	chr11:46698000-46708800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:46698000-46708800	Strong transcription	Stomach Smooth Muscle	stomach
15	chr11:46698000-46718600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr11:46698200-46704400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:46698200-46705600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:46698200-46706000	Strong transcription	Fetal Lung	lung
19	chr11:46698200-46706200	Strong transcription	Dnd41	blood
20	chr11:46698200-46708600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:46698400-46704200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:46698400-46709000	Weak transcription	Fetal Kidney	kidney
23	chr11:46698400-46719400	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:46698600-46704400	Strong transcription	Small Intestine	intestine
25	chr11:46698600-46704600	Strong transcription	HepG2	liver
26	chr11:46698600-46704800	Strong transcription	HSMM	muscle
27	chr11:46698600-46705000	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr11:46698600-46705800	Strong transcription	Gastric	stomach
29	chr11:46698600-46706600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:46698800-46704200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:46698800-46705000	Strong transcription	Brain Cingulate Gyrus	brain
32	chr11:46698800-46706200	Strong transcription	Fetal Thymus	thymus
33	chr11:46699000-46704200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr11:46699000-46704800	Strong transcription	Brain Hippocampus Middle	brain
35	chr11:46699000-46704800	Strong transcription	Brain Substantia Nigra	brain
36	chr11:46699000-46704800	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:46699000-46705000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr11:46699000-46705000	Weak transcription	Right Atrium	heart
39	chr11:46699000-46706000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:46699000-46706000	Strong transcription	Lung	lung
41	chr11:46699200-46705600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:46699200-46706000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:46699200-46706000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:46699200-46706200	Strong transcription	Primary T cells from cord blood	blood
45	chr11:46699200-46706200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:46699200-46706200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:46699200-46706400	Strong transcription	Primary B cells from cord blood	blood
48	chr11:46699200-46715800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:46699200-46716400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr11:46699200-46717000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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