Variant report

Variant	rs5030486
Chromosome Location	chr11:36509146-36509147
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	chr11:36309513..36312180-chr11:36507629..36509613,2	K562	blood:

Variant related genes	Relation type
ENSG00000110442	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1046864	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10836567	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11033641	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11033644	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11033647	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11033650	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11033651	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2303439	0.87[EUR][1000 genomes]
rs331457	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs331459	0.85[ASN][1000 genomes]
rs331463	0.92[EUR][1000 genomes]
rs4755453	0.86[EUR][1000 genomes]
rs502243	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5030437	0.87[EUR][1000 genomes]
rs5030445	0.87[EUR][1000 genomes]
rs5030470	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5030482	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5030485	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs540386	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs552140	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7109169	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7127484	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7927299	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs981981	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs981982	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36474800-36511000	Weak transcription	Fetal Kidney	kidney
2	chr11:36478800-36510400	Weak transcription	Right Ventricle	heart
3	chr11:36478800-36512200	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:36489200-36510600	Weak transcription	Colonic Mucosa	Colon
5	chr11:36490000-36530400	Weak transcription	Esophagus	oesophagus
6	chr11:36491000-36511200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:36499200-36512800	Weak transcription	Fetal Lung	lung
8	chr11:36500800-36509600	Weak transcription	Brain Angular Gyrus	brain
9	chr11:36500800-36522400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:36502200-36523400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:36502600-36509200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:36503600-36510200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:36504400-36510600	Weak transcription	K562	blood
14	chr11:36504400-36511000	Weak transcription	Hela-S3	cervix
15	chr11:36504400-36524000	Weak transcription	Stomach Mucosa	stomach
16	chr11:36504800-36509600	Strong transcription	Fetal Thymus	thymus
17	chr11:36504800-36514000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:36504800-36517400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:36504800-36517600	Strong transcription	Fetal Muscle Leg	muscle
20	chr11:36504800-36521200	Strong transcription	Fetal Intestine Large	intestine
21	chr11:36504800-36521600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:36504800-36521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:36504800-36522800	Strong transcription	Liver	Liver
24	chr11:36504800-36523000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr11:36505000-36510000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:36505000-36510200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:36505000-36512200	Strong transcription	Fetal Intestine Small	intestine
28	chr11:36505200-36510000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:36505200-36511200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:36505200-36513200	Weak transcription	Fetal Heart	heart
31	chr11:36505200-36516400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:36505200-36521600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:36505400-36509200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:36505400-36509400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:36505400-36509600	Strong transcription	Primary T cells from cord blood	blood
36	chr11:36505400-36520800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:36505400-36521600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr11:36505400-36523200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr11:36505600-36509400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr11:36505600-36510600	Weak transcription	HepG2	liver
41	chr11:36505600-36514600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:36505600-36517200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr11:36505800-36517200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:36505800-36520800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:36506000-36511600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:36506000-36520400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:36506000-36520800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:36506200-36509400	Strong transcription	Dnd41	blood
49	chr11:36506200-36509800	Weak transcription	NHLF	lung
50	chr11:36506400-36509200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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