Variant report

Variant	rs17273810
Chromosome Location	chr2:231309217-231309218
allele	A/C
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	chr2:231309089-231309656	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:231309155-231309858	GM12892	blood:	n/a	n/a
3	POLR2A	chr2:231309048-231309836	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:231309077-231310154	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:231309182-231309676	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
SP100	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1074464	0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs10933337	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs11689231	1.00[CHB][hapmap]
rs12694867	1.00[LWK][hapmap];0.94[YRI][hapmap]
rs12992427	0.81[AFR][1000 genomes]
rs13006418	0.94[YRI][hapmap]
rs17330341	1.00[CHB][hapmap]
rs1972707	1.00[CHB][hapmap]
rs55798834	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55900888	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62192253	1.00[ASN][1000 genomes]
rs62193380	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193412	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193413	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73000209	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73000227	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv584672	chr2:231289976-231348888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17273810	LOC93349	cis	multi-tissue	Pritchard

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231288800-231319000	Weak transcription	Fetal Kidney	kidney
2	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
3	chr2:231294200-231309600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:231294200-231311600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:231296000-231309400	Weak transcription	Colonic Mucosa	Colon
6	chr2:231296000-231310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:231301400-231314400	Weak transcription	Psoas Muscle	Psoas
8	chr2:231301800-231312000	Weak transcription	HepG2	liver
9	chr2:231301800-231345000	Weak transcription	A549	lung
10	chr2:231303200-231317200	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr2:231304400-231320800	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:231306000-231314400	Weak transcription	Esophagus	oesophagus
13	chr2:231306600-231309400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:231306600-231310400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:231306600-231312000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:231306600-231323400	Weak transcription	K562	blood
17	chr2:231306800-231311600	Genic enhancers	GM12878-XiMat	blood
18	chr2:231306800-231311800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:231306800-231318200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:231307400-231312600	Genic enhancers	Primary B cells from cord blood	blood
21	chr2:231307400-231317600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:231307400-231318200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:231307400-231321800	Strong transcription	Liver	Liver
24	chr2:231307600-231309600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:231307600-231311400	Strong transcription	Thymus	Thymus
26	chr2:231307600-231311600	Weak transcription	Hela-S3	cervix
27	chr2:231307600-231311800	Strong transcription	Fetal Thymus	thymus
28	chr2:231307600-231312200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:231307600-231312400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:231307600-231315000	Strong transcription	Fetal Muscle Leg	muscle
31	chr2:231307600-231315000	Strong transcription	Left Ventricle	heart
32	chr2:231307600-231315400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr2:231307600-231316600	Strong transcription	Primary hematopoietic stem cells	blood
34	chr2:231307600-231318200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr2:231307600-231319600	Strong transcription	Dnd41	blood
36	chr2:231307600-231336600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr2:231307800-231309400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:231307800-231309400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:231307800-231309600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:231307800-231309600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:231307800-231309600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:231307800-231315000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:231307800-231315000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:231307800-231315200	Strong transcription	HSMMtube	muscle
45	chr2:231307800-231318400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:231308000-231311400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:231308000-231311600	Strong transcription	Primary T cells from cord blood	blood
48	chr2:231308000-231312200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:231308000-231312600	Strong transcription	Adipose Nuclei	Adipose
50	chr2:231308000-231314000	Weak transcription	Brain Substantia Nigra	brain

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