Variant report

Variant	rs7943459
Chromosome Location	chr11:33785913-33785914
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33784551..33787595-chr11:33793972..33796128,3	K562	blood:
2	chr11:33777788..33782173-chr11:33783108..33786558,6	K562	blood:
3	chr11:33741351..33743266-chr11:33784029..33786297,2	MCF-7	breast:
4	chr11:33772508..33775389-chr11:33783928..33785925,2	MCF-7	breast:
5	chr11:33785223..33786784-chr11:33794755..33796851,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254508	Chromatin interaction
ENSG00000110429	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10501127	1.00[ASN][1000 genomes]
rs11032377	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11032385	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11599935	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601836	0.82[EUR][1000 genomes]
rs11607434	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11607549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608235	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12419271	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12420580	1.00[ASN][1000 genomes]
rs1522086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17760306	1.00[ASN][1000 genomes]
rs17760694	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767323	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2273121	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3181268	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181269	1.00[ASN][1000 genomes]
rs55933775	0.83[AMR][1000 genomes]
rs56026019	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60691031	0.83[EUR][1000 genomes]
rs61887473	1.00[ASN][1000 genomes]
rs61887474	1.00[ASN][1000 genomes]
rs61887477	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7480506	0.85[AFR][1000 genomes]
rs7930105	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523356	chr11:33777334-33797408	Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7943459	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs7943459	CD59	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33758800-33795000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:33759000-33795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:33763200-33792200	Strong transcription	Fetal Thymus	thymus
4	chr11:33763200-33792400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:33764200-33792000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:33764400-33791200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:33764400-33792200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:33764400-33792400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr11:33764400-33792400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:33765400-33793800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:33766600-33787600	Weak transcription	Stomach Mucosa	stomach
12	chr11:33767400-33791400	Strong transcription	Placenta	Placenta
13	chr11:33767600-33792400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:33767800-33792200	Strong transcription	Adipose Nuclei	Adipose
15	chr11:33767800-33792400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr11:33769600-33795000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:33770200-33791200	Strong transcription	Liver	Liver
18	chr11:33770400-33789200	Weak transcription	NHLF	lung
19	chr11:33770800-33791600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr11:33775200-33786200	Weak transcription	Esophagus	oesophagus
21	chr11:33776800-33792200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:33777000-33792200	Strong transcription	Fetal Lung	lung
23	chr11:33777200-33792400	Strong transcription	Primary B cells from cord blood	blood
24	chr11:33777600-33786200	Weak transcription	Spleen	Spleen
25	chr11:33778200-33792200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:33778800-33794600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:33779400-33786000	Weak transcription	Lung	lung
28	chr11:33779600-33795000	Weak transcription	Colonic Mucosa	Colon
29	chr11:33779800-33787200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:33780000-33792200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:33780400-33788200	Weak transcription	Hela-S3	cervix
32	chr11:33780800-33789000	Weak transcription	NH-A	brain
33	chr11:33781000-33786000	Weak transcription	Psoas Muscle	Psoas
34	chr11:33781000-33787200	Weak transcription	HSMMtube	muscle
35	chr11:33781200-33786000	Weak transcription	Pancreas	Pancrea
36	chr11:33781200-33786600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:33781600-33787200	Weak transcription	HUVEC	blood vessel
38	chr11:33782000-33786000	Weak transcription	Brain Substantia Nigra	brain
39	chr11:33782200-33786000	Weak transcription	Fetal Intestine Small	intestine
40	chr11:33782200-33786000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:33782200-33786200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:33782200-33787000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr11:33782200-33792000	Weak transcription	Aorta	Aorta
44	chr11:33782200-33793400	Weak transcription	Right Ventricle	heart
45	chr11:33783000-33790400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:33783600-33786000	Weak transcription	Gastric	stomach
47	chr11:33783600-33786200	Weak transcription	Fetal Stomach	stomach
48	chr11:33783600-33786600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:33783600-33790400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:33783800-33787000	Weak transcription	GM12878-XiMat	blood

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