Variant report

Variant	rs256578
Chromosome Location	chr2:190713229-190713230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10181618	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12693558	0.95[EUR][1000 genomes]
rs1869522	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs256543	0.95[EUR][1000 genomes]
rs256544	0.84[EUR][1000 genomes]
rs256545	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs256547	0.95[EUR][1000 genomes]
rs256548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256553	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs256555	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256559	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs256561	1.00[CEU][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256565	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256566	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256569	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256575	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256576	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256585	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256586	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256587	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5743076	0.95[EUR][1000 genomes]
rs5743078	0.95[EUR][1000 genomes]
rs6434371	0.85[EUR][1000 genomes]
rs934883	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875617	chr2:190701869-190724141	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190649800-190713400	Weak transcription	Gastric	stomach
2	chr2:190656800-190721000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:190658200-190743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:190659800-190743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:190661400-190717800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:190662800-190719000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:190664800-190741800	Weak transcription	Brain Angular Gyrus	brain
8	chr2:190669400-190743800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:190671000-190719600	Weak transcription	NH-A	brain
10	chr2:190681000-190743000	Weak transcription	Brain Germinal Matrix	brain
11	chr2:190684000-190743600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:190685000-190736400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:190685400-190739400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:190685400-190741800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:190687000-190724400	Weak transcription	Esophagus	oesophagus
16	chr2:190687000-190738400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:190687000-190738400	Weak transcription	Lung	lung
18	chr2:190691000-190744200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:190691400-190719000	Weak transcription	HUVEC	blood vessel
20	chr2:190694000-190714800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:190701000-190714400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:190701200-190743200	Weak transcription	Fetal Brain Male	brain
23	chr2:190701400-190713800	Weak transcription	NHEK	skin
24	chr2:190701400-190744000	Weak transcription	Fetal Brain Female	brain
25	chr2:190701600-190713600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:190701600-190727400	Weak transcription	HSMMtube	muscle
27	chr2:190701600-190743200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:190701600-190744800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:190701800-190745200	Weak transcription	Fetal Kidney	kidney
30	chr2:190702400-190745600	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:190703600-190719600	Weak transcription	NHLF	lung
32	chr2:190705200-190715400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:190705200-190740000	Weak transcription	Right Ventricle	heart
34	chr2:190705400-190721400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:190706200-190713800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:190706800-190742800	Weak transcription	Fetal Heart	heart
37	chr2:190707000-190715000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:190707000-190738200	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:190707000-190741400	Weak transcription	Brain Anterior Caudate	brain
40	chr2:190707400-190713400	Weak transcription	Psoas Muscle	Psoas
41	chr2:190707400-190741200	Weak transcription	Brain Substantia Nigra	brain
42	chr2:190707600-190746000	Weak transcription	Left Ventricle	heart
43	chr2:190708200-190713600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:190708200-190715800	Strong transcription	HepG2	liver
45	chr2:190708400-190714000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:190708400-190743400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:190708600-190713800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:190708600-190714400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:190708600-190714600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:190708800-190714000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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