Variant report

Variant	rs5753505
Chromosome Location	chr22:31587722-31587723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31574262..31577015-chr22:31586788..31588411,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1034588	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1034589	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1858821	0.82[EUR][1000 genomes]
rs2040533	0.81[EUR][1000 genomes]
rs2073857	0.81[EUR][1000 genomes]
rs2079431	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2106294	0.81[EUR][1000 genomes]
rs2228619	0.81[EUR][1000 genomes]
rs2283879	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2283881	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2413031	0.83[AMR][1000 genomes]
rs2413032	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2413033	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2413034	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2413035	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2413046	0.81[EUR][1000 genomes]
rs2413047	0.81[EUR][1000 genomes]
rs4141404	0.82[EUR][1000 genomes]
rs4299418	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4820042	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4820951	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5749224	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5749229	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5753500	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5753507	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5753521	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5753543	0.80[EUR][1000 genomes]
rs5997902	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5997912	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5997913	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5997939	0.82[EUR][1000 genomes]
rs737684	0.81[EUR][1000 genomes]
rs737888	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8135344	0.81[EUR][1000 genomes]
rs8135347	0.93[AMR][1000 genomes];0.87[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	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5753505	DRG1	Cis_1M	lymphoblastoid	RTeQTL
rs5753505	SFI1	cis	Thyroid	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31557200-31591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr22:31557400-31595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:31557400-31597800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:31557600-31591800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:31557800-31588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr22:31558600-31591400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr22:31558800-31591200	Weak transcription	Fetal Brain Male	brain
8	chr22:31558800-31606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr22:31569800-31591600	Weak transcription	Small Intestine	intestine
10	chr22:31570000-31606400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr22:31570400-31597800	Weak transcription	HUVEC	blood vessel
12	chr22:31572200-31600000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr22:31574200-31590800	Weak transcription	Brain Substantia Nigra	brain
14	chr22:31574400-31601600	Weak transcription	Fetal Heart	heart
15	chr22:31575800-31588600	Weak transcription	Colon Smooth Muscle	Colon
16	chr22:31575800-31588600	Weak transcription	NHLF	lung
17	chr22:31575800-31591600	Weak transcription	NH-A	brain
18	chr22:31575800-31602600	Weak transcription	Stomach Mucosa	stomach
19	chr22:31575800-31607600	Weak transcription	Hela-S3	cervix
20	chr22:31576000-31591200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr22:31576000-31591400	Weak transcription	Fetal Kidney	kidney
22	chr22:31576000-31607800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr22:31576000-31607800	Weak transcription	A549	lung
24	chr22:31577800-31588600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr22:31578800-31591400	Weak transcription	HSMM	muscle
26	chr22:31579200-31607400	Weak transcription	K562	blood
27	chr22:31579400-31588600	Weak transcription	Right Ventricle	heart
28	chr22:31580800-31607600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr22:31581000-31592800	Strong transcription	Fetal Muscle Leg	muscle
30	chr22:31581000-31593000	Strong transcription	Primary T cells from cord blood	blood
31	chr22:31581000-31599200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr22:31581400-31607800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:31581800-31588800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:31582400-31602400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:31582600-31594000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr22:31582800-31589400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr22:31582800-31589800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr22:31582800-31594200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr22:31582800-31603600	Strong transcription	Liver	Liver
40	chr22:31583000-31588600	Strong transcription	HSMMtube	muscle
41	chr22:31583000-31588800	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr22:31583000-31598800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:31583600-31588200	Weak transcription	Brain Germinal Matrix	brain
44	chr22:31583600-31589000	Weak transcription	HepG2	liver
45	chr22:31583600-31591200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr22:31583600-31591200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr22:31583600-31591200	Weak transcription	Esophagus	oesophagus
48	chr22:31583600-31591200	Weak transcription	Psoas Muscle	Psoas
49	chr22:31583600-31591400	Weak transcription	Aorta	Aorta
50	chr22:31583600-31591400	Weak transcription	Gastric	stomach

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