Variant report

Variant	rs737883
Chromosome Location	chr22:29746253-29746254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29705448..29707167-chr22:29743931..29746364,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185340	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11090564	0.80[JPT][hapmap]
rs174761	0.80[JPT][hapmap]
rs174764	0.80[JPT][hapmap]
rs174765	0.82[ASN][1000 genomes]
rs1807503	0.84[ASN][1000 genomes]
rs2002566	0.89[ASN][1000 genomes]
rs2267135	0.89[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs2267136	0.88[ASN][1000 genomes]
rs2283849	0.80[JPT][hapmap]
rs2283852	0.89[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs2283854	0.88[ASN][1000 genomes]
rs2301291	0.80[CEU][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap]
rs2301585	0.80[JPT][hapmap]
rs2301586	0.89[ASN][1000 genomes]
rs2348468	0.89[ASN][1000 genomes]
rs2857466	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs2881921	0.89[ASN][1000 genomes]
rs34234634	0.89[ASN][1000 genomes]
rs378720	0.89[ASN][1000 genomes]
rs3788410	0.80[JPT][hapmap]
rs3788411	0.80[JPT][hapmap]
rs3788412	0.89[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs3963293	0.88[ASN][1000 genomes]
rs4034938	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs4820803	0.80[JPT][hapmap]
rs4820804	0.80[JPT][hapmap]
rs4820809	0.84[ASN][1000 genomes]
rs4823032	0.90[ASN][1000 genomes]
rs5752905	0.89[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.87[ASN][1000 genomes]
rs5752906	0.85[ASN][1000 genomes]
rs5752907	0.83[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs5763138	0.81[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs5763139	0.80[JPT][hapmap]
rs5763144	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5763171	0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.89[ASN][1000 genomes]
rs5763172	0.87[ASN][1000 genomes]
rs5763173	0.89[ASN][1000 genomes]
rs5763179	0.89[ASN][1000 genomes]
rs5763182	0.89[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs5763184	0.89[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs5763189	0.83[ASN][1000 genomes]
rs5763190	0.89[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs5997467	0.89[ASN][1000 genomes]
rs6006090	0.80[JPT][hapmap]
rs6006103	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6006104	0.88[ASN][1000 genomes]
rs6006108	0.89[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs6006109	0.89[ASN][1000 genomes]
rs6006112	0.89[ASN][1000 genomes]
rs6006113	0.89[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs6006115	0.88[CHB][hapmap];0.87[ASN][1000 genomes]
rs879580	0.80[JPT][hapmap]
rs909798	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs9537	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs9613859	0.90[ASN][1000 genomes]
rs9613878	0.87[ASN][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs737883	DUSP18	cis	parietal	SCAN
rs737883	RASL10A	cis	cerebellum	SCAN
rs737883	RASL10A	cis	multi-tissue	Pritchard
rs737883	SRRD	cis	parietal	SCAN
rs737883	PITPNB	cis	cerebellum	SCAN
rs737883	PISD	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29721400-29746800	Strong transcription	Fetal Intestine Small	intestine
2	chr22:29721800-29756800	Strong transcription	Primary T cells from cord blood	blood
3	chr22:29722000-29747000	Strong transcription	Duodenum Mucosa	Duodenum
4	chr22:29722000-29759200	Strong transcription	Dnd41	blood
5	chr22:29722000-29759800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr22:29722200-29755800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:29722200-29756400	Strong transcription	Thymus	Thymus
8	chr22:29722200-29756600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr22:29722200-29759800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr22:29722400-29756800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr22:29722400-29758400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr22:29722600-29751200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr22:29722600-29753200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr22:29722600-29755400	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:29722600-29756000	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr22:29722600-29757200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr22:29722600-29758000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr22:29722600-29758800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr22:29723000-29758800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr22:29723000-29765000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr22:29725400-29756200	Strong transcription	Primary B cells from cord blood	blood
22	chr22:29727400-29756200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:29727600-29746600	Strong transcription	Fetal Intestine Large	intestine
24	chr22:29728000-29756200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:29728400-29755400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:29731600-29753200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr22:29731800-29755400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr22:29737800-29747000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr22:29738200-29747600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:29738200-29755800	Strong transcription	Spleen	Spleen
31	chr22:29739000-29762800	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr22:29739200-29755400	Weak transcription	Right Atrium	heart
33	chr22:29739400-29755600	Strong transcription	Gastric	stomach
34	chr22:29739800-29757200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr22:29740200-29755600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr22:29740200-29756400	Strong transcription	Fetal Thymus	thymus
37	chr22:29740600-29759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr22:29740800-29748400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr22:29740800-29756000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr22:29740800-29759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:29741000-29752400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr22:29741000-29755200	Strong transcription	Fetal Stomach	stomach
43	chr22:29741000-29782800	Weak transcription	Hela-S3	cervix
44	chr22:29741600-29755400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr22:29741600-29755400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr22:29741800-29752400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr22:29741800-29752600	Strong transcription	GM12878-XiMat	blood
48	chr22:29741800-29753200	Strong transcription	Ovary	ovary
49	chr22:29741800-29756200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:29741800-29757200	Strong transcription	Primary hematopoietic stem cells	blood

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