Variant report

Variant	rs12253681
Chromosome Location	chr10:50451183-50451184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50448759..50451494-chr10:50463430..50466103,2	K562	blood:
2	chr10:50446994..50449831-chr10:50450885..50453374,2	K562	blood:
3	chr10:50443853..50446189-chr10:50448741..50451708,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10159700	1.00[AMR][1000 genomes]
rs10159817	1.00[AMR][1000 genomes]
rs10159822	1.00[AMR][1000 genomes]
rs11101007	1.00[AMR][1000 genomes]
rs11101010	0.87[AMR][1000 genomes]
rs11101018	1.00[AMR][1000 genomes]
rs11101019	1.00[AMR][1000 genomes]
rs11101046	1.00[AMR][1000 genomes]
rs11101047	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101048	1.00[AMR][1000 genomes]
rs11101050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101052	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101053	1.00[AMR][1000 genomes]
rs11101055	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101059	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12243236	1.00[AMR][1000 genomes]
rs12244349	1.00[AMR][1000 genomes]
rs12249572	1.00[AMR][1000 genomes]
rs12251532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12251535	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12251541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12253136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12253212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12253756	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12258000	1.00[AMR][1000 genomes]
rs12258809	1.00[AMR][1000 genomes]
rs12260357	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12262517	0.87[AMR][1000 genomes]
rs17009534	0.87[AMR][1000 genomes]
rs61739968	1.00[AMR][1000 genomes]
rs7358236	1.00[AMR][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50447600-50452400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr10:50447600-50453000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr10:50449000-50451200	Enhancers	Fetal Muscle Leg	muscle
4	chr10:50449000-50451400	Enhancers	Left Ventricle	heart
5	chr10:50449000-50451400	Enhancers	Right Atrium	heart
6	chr10:50449000-50451600	Enhancers	Fetal Heart	heart
7	chr10:50449000-50451600	Enhancers	Right Ventricle	heart
8	chr10:50449400-50451200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr10:50449600-50451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:50449800-50451600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr10:50449800-50451600	Enhancers	K562	blood
12	chr10:50449800-50452200	Enhancers	Spleen	Spleen
13	chr10:50450000-50451800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:50450200-50451400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr10:50450400-50451600	Enhancers	Pancreas	Pancrea
16	chr10:50450600-50451400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr10:50450600-50451400	Enhancers	Liver	Liver
18	chr10:50450800-50451200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
19	chr10:50450800-50451200	Enhancers	Brain Substantia Nigra	brain
20	chr10:50450800-50451400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:50450800-50451400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:50450800-50451400	Enhancers	Placenta	Placenta
23	chr10:50450800-50452200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr10:50450800-50452400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
25	chr10:50450800-50452400	Enhancers	Primary B cells from cord blood	blood
26	chr10:50450800-50452400	Enhancers	Primary B cells from peripheral blood	blood
27	chr10:50451000-50451200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
28	chr10:50451000-50451200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr10:50451000-50451400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr10:50451000-50451400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr10:50451000-50451600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr10:50451000-50451600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr10:50451000-50452000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
34	chr10:50451000-50452200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
35	chr10:50451000-50452200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr10:50451000-50452200	Enhancers	Adipose Nuclei	Adipose
37	chr10:50451000-50454200	Weak transcription	Esophagus	oesophagus

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