Variant report

Variant	rs11919254
Chromosome Location	chr3:119020839-119020840
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119014873..119018472-chr3:119020624..119023457,3	MCF-7	breast:
2	chr3:119016211..119028042-chr3:119037960..119043695,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241155	Chromatin interaction
ENSG00000242829	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11926244	0.82[EUR][1000 genomes]
rs35441453	0.97[EUR][1000 genomes]
rs59654162	0.82[EUR][1000 genomes]
rs7614346	0.97[EUR][1000 genomes]
rs7627301	0.97[EUR][1000 genomes]
rs7627485	0.97[EUR][1000 genomes]
rs7643381	0.97[EUR][1000 genomes]
rs7646428	0.83[AFR][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:96 , 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	chr3:119014400-119021600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:119014400-119021800	Weak transcription	Liver	Liver
5	chr3:119015000-119021800	Weak transcription	Fetal Intestine Large	intestine
6	chr3:119015000-119028600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:119015000-119041200	Weak transcription	Aorta	Aorta
8	chr3:119015200-119021600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:119015200-119041000	Weak transcription	Fetal Kidney	kidney
10	chr3:119015800-119024400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:119015800-119024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:119016000-119021800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:119016000-119035400	Weak transcription	Fetal Brain Male	brain
14	chr3:119016000-119041000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr3:119016400-119024000	Weak transcription	Small Intestine	intestine
16	chr3:119016400-119040800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr3:119016400-119041000	Weak transcription	Fetal Intestine Small	intestine
18	chr3:119016600-119021600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:119016600-119021800	Weak transcription	NHLF	lung
20	chr3:119016600-119024400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:119016600-119025000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
22	chr3:119016800-119024800	Enhancers	Fetal Heart	heart
23	chr3:119017200-119021600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:119017200-119021800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr3:119017200-119023000	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:119017200-119025000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr3:119017400-119021600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr3:119017400-119021600	Weak transcription	HSMM	muscle
29	chr3:119017400-119021800	Weak transcription	Ovary	ovary
30	chr3:119017400-119029800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:119017400-119040600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr3:119017600-119032400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr3:119017800-119021600	Weak transcription	Fetal Lung	lung
34	chr3:119017800-119022000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:119018800-119021200	Enhancers	Right Atrium	heart
36	chr3:119018800-119022600	Genic enhancers	Left Ventricle	heart
37	chr3:119018800-119032800	Weak transcription	Thymus	Thymus
38	chr3:119019000-119021600	Enhancers	Adipose Nuclei	Adipose
39	chr3:119019000-119022600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr3:119019200-119022000	Genic enhancers	NH-A	brain
41	chr3:119019200-119024800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:119019200-119024800	Genic enhancers	Fetal Stomach	stomach
43	chr3:119019200-119026000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:119019200-119040800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:119019400-119021000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:119019400-119021800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr3:119019400-119024200	Enhancers	Placenta	Placenta
48	chr3:119019600-119021400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr3:119019600-119021600	Flanking Active TSS	GM12878-XiMat	blood
50	chr3:119019600-119022200	Enhancers	HUVEC	blood vessel

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