Variant report

Variant	rs1838573
Chromosome Location	chr10:49743008-49743009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49735319..49737955-chr10:49741189..49744071,3	K562	blood:
2	chr10:49713932..49717816-chr10:49742746..49746059,3	K562	blood:
3	chr10:49735860..49737955-chr10:49741189..49744599,4	K562	blood:
4	chr10:49740700..49743392-chr10:49743938..49745981,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10491040	0.84[ASN][1000 genomes]
rs10735226	1.00[JPT][hapmap]
rs10776614	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10776615	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10776616	0.82[CHB][hapmap]
rs10857592	0.85[CEU][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10857596	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10857598	0.84[ASN][1000 genomes]
rs11101355	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs11101357	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs11101362	0.93[ASN][1000 genomes]
rs11101364	0.93[ASN][1000 genomes]
rs11101368	0.85[CEU][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11101377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11101381	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11101382	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11101384	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs11591281	0.93[ASN][1000 genomes]
rs11596336	0.85[ASN][1000 genomes]
rs11812546	1.00[JPT][hapmap]
rs12358311	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12358315	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12412164	0.87[ASN][1000 genomes]
rs12777174	0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12777190	0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12779617	0.83[ASN][1000 genomes]
rs1345104	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs1345109	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1345110	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1345111	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1348633	1.00[JPT][hapmap]
rs1445148	0.88[ASN][1000 genomes]
rs1445154	0.90[ASN][1000 genomes]
rs1473323	0.80[ASN][1000 genomes]
rs17697885	1.00[JPT][hapmap]
rs17770615	1.00[JPT][hapmap]
rs1814469	1.00[JPT][hapmap]
rs1838568	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1838569	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1838570	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1838574	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1838579	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs1900021	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900022	0.85[ASN][1000 genomes]
rs1965170	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2077152	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2120910	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs34552122	0.85[ASN][1000 genomes]
rs34774310	0.85[ASN][1000 genomes]
rs34983450	0.93[ASN][1000 genomes]
rs3910907	0.85[ASN][1000 genomes]
rs4080665	1.00[JPT][hapmap]
rs4084916	0.84[ASN][1000 genomes]
rs4101278	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41510345	0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4450130	0.85[CEU][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4838418	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4838421	0.80[ASN][1000 genomes]
rs4838422	0.80[ASN][1000 genomes]
rs4838605	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs4838606	1.00[JPT][hapmap]
rs4838617	0.87[ASN][1000 genomes]
rs4838623	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs56058334	0.88[ASN][1000 genomes]
rs56080723	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56248718	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57601353	0.93[ASN][1000 genomes]
rs66695288	0.93[ASN][1000 genomes]
rs67372461	0.93[ASN][1000 genomes]
rs7069220	1.00[JPT][hapmap]
rs7071095	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7071480	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7074631	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7085183	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7085335	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7087729	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7088010	0.88[ASN][1000 genomes]
rs7089439	0.88[ASN][1000 genomes]
rs7093726	1.00[JPT][hapmap]
rs7094216	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7096053	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7098068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs72785120	0.90[ASN][1000 genomes]
rs7350424	0.88[ASN][1000 genomes]
rs7350439	0.88[ASN][1000 genomes]
rs747533	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7894707	0.82[CHB][hapmap]
rs7894971	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs7896644	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs7904456	0.88[ASN][1000 genomes]
rs7905247	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs7911247	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs7915233	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs7916108	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs935271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49732200-49750800	Weak transcription	Gastric	stomach
2	chr10:49734400-49743400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:49734400-49762400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:49734800-49743200	Weak transcription	HMEC	breast
5	chr10:49735400-49749400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:49735400-49756800	Weak transcription	HSMMtube	muscle
7	chr10:49735600-49743200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:49735600-49755600	Weak transcription	Brain Angular Gyrus	brain
9	chr10:49736200-49749400	Weak transcription	HUVEC	blood vessel
10	chr10:49739400-49762400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr10:49739800-49744600	Weak transcription	NH-A	brain
12	chr10:49740800-49746200	Strong transcription	NHLF	lung
13	chr10:49741000-49747000	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr10:49741400-49744800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr10:49741600-49743200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr10:49741600-49743200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr10:49741600-49745200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr10:49741600-49745200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr10:49741600-49746400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:49741600-49746600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr10:49741600-49746600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr10:49741600-49746600	Strong transcription	Osteobl	bone
23	chr10:49741800-49744000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:49741800-49746400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr10:49742000-49744600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr10:49742000-49745200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr10:49742000-49745400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:49742000-49746400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr10:49742200-49747200	Strong transcription	HSMM	muscle
30	chr10:49742600-49743600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:49742600-49744200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr10:49742600-49744200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:49742600-49744200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr10:49742600-49749000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:49742600-49774800	Weak transcription	Aorta	Aorta
36	chr10:49742800-49743400	Weak transcription	Brain Substantia Nigra	brain
37	chr10:49742800-49746400	Strong transcription	NHDF-Ad	bronchial
38	chr10:49742800-49747200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:49742800-49755200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr10:49742800-49755200	Weak transcription	Brain Hippocampus Middle	brain
41	chr10:49742800-49755600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr10:49743000-49744200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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