Variant report

Variant	rs11917054
Chromosome Location	chr3:119018754-119018755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119011961..119014558-chr3:119015081..119019200,4	MCF-7	breast:
2	chr3:119011699..119014378-chr3:119015999..119019083,3	MCF-7	breast:
3	chr3:119016211..119028042-chr3:119037960..119043695,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241155	Chromatin interaction
ENSG00000031081	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11916942	1.00[EUR][1000 genomes]
rs11918611	1.00[EUR][1000 genomes]
rs11919244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11921860	1.00[EUR][1000 genomes]
rs11922202	1.00[EUR][1000 genomes]
rs11927863	1.00[EUR][1000 genomes]
rs13327592	1.00[EUR][1000 genomes]
rs4337633	1.00[EUR][1000 genomes]
rs4687974	1.00[EUR][1000 genomes]
rs57447123	1.00[EUR][1000 genomes]
rs58318736	1.00[EUR][1000 genomes]
rs58369563	1.00[EUR][1000 genomes]
rs6438493	1.00[EUR][1000 genomes]
rs72962565	1.00[EUR][1000 genomes]
rs72968486	1.00[EUR][1000 genomes]
rs73857025	1.00[EUR][1000 genomes]
rs7611869	1.00[EUR][1000 genomes]
rs9810251	1.00[EUR][1000 genomes]
rs9810388	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9824383	1.00[EUR][1000 genomes]
rs9828041	1.00[EUR][1000 genomes]
rs9828213	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9828336	0.82[AFR][1000 genomes]
rs9830074	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9841997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9846150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9847851	1.00[EUR][1000 genomes]
rs9853937	1.00[EUR][1000 genomes]
rs9860820	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats 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	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119014200-119029800	Weak transcription	Gastric	stomach
2	chr3:119014200-119032800	Weak transcription	Pancreas	Pancrea
3	chr3:119014400-119019800	Weak transcription	NHEK	skin
4	chr3:119014400-119021600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:119014400-119021800	Weak transcription	Liver	Liver
6	chr3:119015000-119021800	Weak transcription	Fetal Intestine Large	intestine
7	chr3:119015000-119028600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:119015000-119041200	Weak transcription	Aorta	Aorta
9	chr3:119015200-119020600	Weak transcription	Primary B cells from cord blood	blood
10	chr3:119015200-119021600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:119015200-119041000	Weak transcription	Fetal Kidney	kidney
12	chr3:119015400-119019800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:119015400-119019800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:119015800-119018800	Enhancers	Thymus	Thymus
15	chr3:119015800-119020000	Weak transcription	Colonic Mucosa	Colon
16	chr3:119015800-119024400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:119015800-119024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:119016000-119021800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:119016000-119035400	Weak transcription	Fetal Brain Male	brain
20	chr3:119016000-119041000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:119016400-119019600	Weak transcription	HMEC	breast
22	chr3:119016400-119024000	Weak transcription	Small Intestine	intestine
23	chr3:119016400-119040800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr3:119016400-119041000	Weak transcription	Fetal Intestine Small	intestine
25	chr3:119016600-119019200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:119016600-119019200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:119016600-119019800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:119016600-119020000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:119016600-119021600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:119016600-119021800	Weak transcription	NHLF	lung
31	chr3:119016600-119024400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:119016600-119025000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
33	chr3:119016800-119024800	Enhancers	Fetal Heart	heart
34	chr3:119017000-119019000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr3:119017000-119019800	Weak transcription	Esophagus	oesophagus
36	chr3:119017000-119019800	Weak transcription	NHDF-Ad	bronchial
37	chr3:119017200-119018800	Weak transcription	Placenta	Placenta
38	chr3:119017200-119019000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:119017200-119019400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:119017200-119019800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr3:119017200-119020200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr3:119017200-119021600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:119017200-119021800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:119017200-119023000	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:119017200-119025000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr3:119017400-119018800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:119017400-119019200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:119017400-119019400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:119017400-119020000	Weak transcription	Brain Substantia Nigra	brain
50	chr3:119017400-119021600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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