Variant report

Variant	rs495264
Chromosome Location	chr11:66400452-66400453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66399850..66403638-chr11:66403806..66406720,12	K562	blood:
2	chr11:66360820..66362451-chr11:66399115..66401694,2	K562	blood:

Variant related genes	Relation type
ENSG00000173933	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10750787	1.00[EUR][1000 genomes]
rs10791875	1.00[EUR][1000 genomes]
rs10791877	1.00[EUR][1000 genomes]
rs11227537	1.00[AMR][1000 genomes]
rs1189692	1.00[EUR][1000 genomes]
rs1532823	1.00[EUR][1000 genomes]
rs1700188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1791677	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35599411	1.00[EUR][1000 genomes]
rs3850949	1.00[EUR][1000 genomes]
rs4290235	1.00[EUR][1000 genomes]
rs45620032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4930361	1.00[EUR][1000 genomes]
rs4930364	1.00[EUR][1000 genomes]
rs4930367	1.00[EUR][1000 genomes]
rs4930388	1.00[AMR][1000 genomes]
rs548344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs580850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs670900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7105162	1.00[EUR][1000 genomes]
rs7131396	1.00[EUR][1000 genomes]
rs71457730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs908693	1.00[AMR][1000 genomes];1.00[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	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66385400-66406200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66386800-66405600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:66387000-66403400	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:66387600-66401800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:66388600-66402400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:66388800-66401200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:66388800-66402400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:66388800-66402400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:66388800-66402400	Strong transcription	Fetal Muscle Leg	muscle
10	chr11:66388800-66402800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:66388800-66403800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:66388800-66404400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:66388800-66404800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:66389000-66404400	Strong transcription	Fetal Thymus	thymus
15	chr11:66389200-66402400	Strong transcription	Fetal Intestine Large	intestine
16	chr11:66389200-66402800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:66389800-66401200	Strong transcription	Thymus	Thymus
18	chr11:66390200-66401200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:66390600-66402600	Strong transcription	K562	blood
20	chr11:66390600-66404800	Strong transcription	Fetal Intestine Small	intestine
21	chr11:66390800-66402200	Strong transcription	Hela-S3	cervix
22	chr11:66390800-66402600	Strong transcription	A549	lung
23	chr11:66390800-66403200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:66391000-66404200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:66391200-66402400	Strong transcription	Osteobl	bone
26	chr11:66391200-66403200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:66391200-66403800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:66391200-66404400	Strong transcription	Fetal Stomach	stomach
29	chr11:66391200-66404600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:66391600-66404800	Weak transcription	Fetal Brain Male	brain
31	chr11:66391800-66402400	Strong transcription	Liver	Liver
32	chr11:66392400-66402200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:66393400-66401200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:66394200-66405200	Weak transcription	Psoas Muscle	Psoas
35	chr11:66394800-66404800	Weak transcription	Fetal Heart	heart
36	chr11:66395000-66405200	Weak transcription	Small Intestine	intestine
37	chr11:66395400-66405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:66396600-66405000	Weak transcription	Stomach Mucosa	stomach
39	chr11:66396600-66405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:66397000-66405000	Weak transcription	Left Ventricle	heart
41	chr11:66397000-66405000	Weak transcription	Right Atrium	heart
42	chr11:66397000-66405000	Weak transcription	Right Ventricle	heart
43	chr11:66397000-66405400	Weak transcription	Esophagus	oesophagus
44	chr11:66397000-66405400	Weak transcription	Pancreas	Pancrea
45	chr11:66397200-66401800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr11:66397200-66404000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:66397200-66405400	Weak transcription	Aorta	Aorta
48	chr11:66397200-66405400	Weak transcription	Gastric	stomach
49	chr11:66397400-66405000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:66397600-66400600	Weak transcription	Rectal Mucosa Donor 29	rectum

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