Variant report

Variant	rs3761820
Chromosome Location	chr9:116266704-116266705
allele	C/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	chr9:116263262-116267925	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr9:116266692-116267812	HepG2	liver:	n/a	chr9:116267071-116267080 chr9:116267378-116267387 chr9:116267047-116267057
3	POLR2A	chr9:116263135-116267750	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr9:116263232-116266725	HUVEC	blood vessel:	n/a	n/a
5	MAX	chr9:116266558-116267731	HepG2	liver:	n/a	chr9:116267071-116267080 chr9:116267378-116267387 chr9:116267047-116267057
6	MAX	chr9:116265466-116267455	HUVEC	blood vessel:	n/a	chr9:116267071-116267080 chr9:116266394-116266404 chr9:116267378-116267387 chr9:116267047-116267057
7	POLR2A	chr9:116265719-116266747	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116265835..116268301-chr9:116279324..116281618,2	K562	blood:

Variant related genes	Relation type
RGS3	TF binding region
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7875727	0.81[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116251600-116283800	Weak transcription	Hela-S3	cervix
2	chr9:116252400-116273200	Weak transcription	Pancreas	Pancrea
3	chr9:116255600-116269400	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:116255600-116275800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:116257400-116270800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:116259200-116274000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:116259200-116274200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:116262800-116267400	Weak transcription	Aorta	Aorta
9	chr9:116262800-116274200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr9:116263200-116267000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:116263800-116266800	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr9:116264000-116267400	Enhancers	HepG2	liver
13	chr9:116264000-116291200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr9:116264200-116267400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:116264400-116267400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:116264400-116270200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:116264600-116267400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr9:116264600-116268200	Weak transcription	Brain Angular Gyrus	brain
19	chr9:116264600-116271200	Enhancers	Liver	Liver
20	chr9:116264600-116271400	Genic enhancers	Fetal Intestine Small	intestine
21	chr9:116264800-116267600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr9:116264800-116269200	Enhancers	Fetal Intestine Large	intestine
23	chr9:116264800-116269400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:116264800-116269400	Weak transcription	Fetal Thymus	thymus
25	chr9:116264800-116298400	Weak transcription	Brain Germinal Matrix	brain
26	chr9:116265000-116267400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr9:116265000-116268200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr9:116265000-116268200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:116265000-116268600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr9:116265000-116270000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:116265200-116267000	Enhancers	Duodenum Mucosa	Duodenum
32	chr9:116265200-116268200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr9:116265200-116270800	Weak transcription	Fetal Heart	heart
34	chr9:116265400-116266800	Flanking Active TSS	Right Atrium	heart
35	chr9:116265600-116267000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr9:116265600-116267800	Enhancers	Ovary	ovary
37	chr9:116265600-116268000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr9:116265600-116269600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr9:116265600-116270000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:116265600-116270000	Weak transcription	Fetal Kidney	kidney
41	chr9:116265600-116270000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr9:116265800-116267000	Weak transcription	Gastric	stomach
43	chr9:116265800-116267800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:116265800-116268400	Enhancers	Lung	lung
45	chr9:116265800-116268800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr9:116265800-116269400	Weak transcription	Fetal Brain Female	brain
47	chr9:116266000-116267200	Enhancers	Brain Hippocampus Middle	brain
48	chr9:116266000-116267400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr9:116266000-116267600	Enhancers	Placenta	Placenta
50	chr9:116266000-116268400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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