Variant report

Variant	rs5030499
Chromosome Location	chr11:36525128-36525129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36524585..36526745-chr11:36660156..36661890,2	K562	blood:
2	chr11:36524062..36527265-chr11:36528945..36532001,4	K562	blood:

Variant related genes	Relation type
ENSG00000175104	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1159233	0.87[EUR][1000 genomes]
rs1399599	0.85[AMR][1000 genomes]
rs16928973	0.90[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4151013	0.85[AMR][1000 genomes]
rs4151024	0.85[AMR][1000 genomes]
rs4151044	0.85[AMR][1000 genomes]
rs5030490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5030493	0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5030495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5030497	0.90[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5030504	0.90[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5030507	1.00[EUR][1000 genomes]
rs554949	0.81[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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36490000-36530400	Weak transcription	Esophagus	oesophagus
2	chr11:36508800-36530400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:36510000-36525600	Strong transcription	Fetal Thymus	thymus
4	chr11:36510600-36525400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr11:36511000-36526000	Strong transcription	Dnd41	blood
6	chr11:36512200-36530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:36512400-36529800	Weak transcription	Colonic Mucosa	Colon
8	chr11:36513800-36529800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:36513800-36530000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:36513800-36530400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:36513800-36530400	Weak transcription	Lung	lung
12	chr11:36514000-36529600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:36514000-36530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:36514000-36530800	Weak transcription	Small Intestine	intestine
15	chr11:36518000-36530400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:36519000-36529800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:36520000-36525600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr11:36520200-36527200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:36520200-36529600	Weak transcription	Fetal Kidney	kidney
20	chr11:36520200-36529800	Weak transcription	A549	lung
21	chr11:36520400-36525800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:36521200-36526000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:36521600-36527000	Enhancers	Fetal Heart	heart
24	chr11:36522000-36525400	Enhancers	HSMMtube	muscle
25	chr11:36522000-36529600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:36522000-36530400	Weak transcription	Gastric	stomach
27	chr11:36522200-36525200	Enhancers	Brain Substantia Nigra	brain
28	chr11:36522200-36525600	Weak transcription	K562	blood
29	chr11:36522200-36529600	Weak transcription	Brain Germinal Matrix	brain
30	chr11:36522200-36529800	Weak transcription	Hela-S3	cervix
31	chr11:36522200-36530000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:36522200-36530000	Weak transcription	Aorta	Aorta
33	chr11:36522200-36530000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:36522400-36525200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:36522400-36525400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:36522400-36526800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:36522400-36529600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:36522400-36530000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:36522400-36530200	Weak transcription	Ovary	ovary
40	chr11:36522600-36526400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:36522800-36528800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:36522800-36529600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:36522800-36529800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:36522800-36530400	Weak transcription	Fetal Brain Male	brain
45	chr11:36523000-36525200	Enhancers	Brain Hippocampus Middle	brain
46	chr11:36523000-36525400	Enhancers	Liver	Liver
47	chr11:36523000-36527400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:36523000-36529600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:36523000-36529600	Weak transcription	Fetal Brain Female	brain
50	chr11:36523000-36529800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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