Variant report

Variant	rs9830074
Chromosome Location	chr3:119016118-119016119
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:119016032-119016370	GM12878	blood:	n/a	n/a
2	TCF12	chr3:119014921-119017045	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr3:119011830-119016982	SK-N-SH	brain:	n/a	n/a

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	chr3:118864911..118866856-chr3:119014676..119016254,2	MCF-7	breast:

Variant related genes	Relation type
RPS26P21	TF binding region
ENSG00000144847	Chromatin interaction
ENSG00000031081	Chromatin interaction
ENSG00000251012	Chromatin interaction
ENSG00000163424	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]
rs11917054	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11918611	1.00[EUR][1000 genomes]
rs11919244	0.98[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	1.00[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9828336	0.84[AFR][1000 genomes]
rs9841997	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9846150	0.98[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	0.86[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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119012400-119016200	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr3:119012400-119016200	Active TSS	Left Ventricle	heart
3	chr3:119012400-119016200	Active TSS	Right Ventricle	heart
4	chr3:119012600-119016400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr3:119012800-119016200	Active TSS	Right Atrium	heart
6	chr3:119012800-119016400	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr3:119014200-119016200	Weak transcription	Spleen	Spleen
8	chr3:119014200-119016400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:119014200-119017600	Enhancers	Primary T cells from cord blood	blood
10	chr3:119014200-119029800	Weak transcription	Gastric	stomach
11	chr3:119014200-119032800	Weak transcription	Pancreas	Pancrea
12	chr3:119014400-119016200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:119014400-119016200	Weak transcription	Esophagus	oesophagus
14	chr3:119014400-119017200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr3:119014400-119017200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr3:119014400-119017400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:119014400-119017600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:119014400-119018000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr3:119014400-119019800	Weak transcription	NHEK	skin
20	chr3:119014400-119021600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:119014400-119021800	Weak transcription	Liver	Liver
22	chr3:119014800-119016400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr3:119015000-119016200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:119015000-119016200	Enhancers	HSMM	muscle
25	chr3:119015000-119016400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:119015000-119016400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:119015000-119016400	Flanking Active TSS	Osteobl	bone
28	chr3:119015000-119017000	Flanking Active TSS	GM12878-XiMat	blood
29	chr3:119015000-119017400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr3:119015000-119017800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:119015000-119021800	Weak transcription	Fetal Intestine Large	intestine
32	chr3:119015000-119028600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:119015000-119041200	Weak transcription	Aorta	Aorta
34	chr3:119015200-119016200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:119015200-119016200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:119015200-119016200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr3:119015200-119016200	Flanking Active TSS	Fetal Thymus	thymus
38	chr3:119015200-119016200	Flanking Active TSS	HUVEC	blood vessel
39	chr3:119015200-119016400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:119015200-119016400	Enhancers	HMEC	breast
41	chr3:119015200-119016800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:119015200-119020600	Weak transcription	Primary B cells from cord blood	blood
43	chr3:119015200-119021600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr3:119015200-119041000	Weak transcription	Fetal Kidney	kidney
45	chr3:119015400-119016200	Weak transcription	Fetal Intestine Small	intestine
46	chr3:119015400-119016800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr3:119015400-119016800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr3:119015400-119017200	Enhancers	Colon Smooth Muscle	Colon
49	chr3:119015400-119017200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr3:119015400-119017600	Enhancers	Brain Anterior Caudate	brain

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