Variant report

Variant	rs4233350
Chromosome Location	chr1:170380875-170380876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10733056	0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10753814	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10753815	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10800527	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs10919425	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10919434	1.00[AMR][1000 genomes]
rs12062348	1.00[AMR][1000 genomes]
rs12072089	1.00[AMR][1000 genomes]
rs12087798	1.00[AMR][1000 genomes]
rs12088253	1.00[AMR][1000 genomes]
rs12116909	0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333133	0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333142	0.85[YRI][hapmap]
rs1333150	0.84[AFR][1000 genomes]
rs1333155	0.90[AFR][1000 genomes]
rs1333156	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1412892	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs1412893	0.82[AFR][1000 genomes]
rs1412895	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1537390	0.86[YRI][hapmap]
rs1537397	0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1576980	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1855221	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1928716	0.84[YRI][hapmap]
rs1930632	0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs2104918	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2150029	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2225322	0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2421325	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs2901401	0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3980839	0.84[AFR][1000 genomes]
rs4325194	0.83[AFR][1000 genomes]
rs4402174	0.88[AFR][1000 genomes]
rs4415629	0.83[AFR][1000 genomes]
rs4656769	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4656775	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4656777	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4656779	0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4656783	0.83[AFR][1000 genomes]
rs57462154	1.00[AMR][1000 genomes]
rs57674813	1.00[AMR][1000 genomes]
rs6427248	0.92[AFR][1000 genomes]
rs6427249	0.92[AFR][1000 genomes]
rs6427260	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs6427261	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs6657164	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6660575	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6664037	0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs6667304	0.85[AFR][1000 genomes]
rs6669308	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs6670724	0.92[AFR][1000 genomes]
rs6671312	0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs6676081	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6680083	1.00[AMR][1000 genomes]
rs6693763	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs6701218	0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs6703801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7523665	0.81[AFR][1000 genomes]
rs7531125	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538125	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7548443	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7553254	0.86[YRI][hapmap];0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv2756870	chr1:170315081-170413292	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv2758977	chr1:170315081-170413292	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1014576	chr1:170366471-170383224	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
8	nsv1012584	chr1:170367098-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv1002109	chr1:170367098-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
10	nsv441720	chr1:170367646-170387205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv1010414	chr1:170367650-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
12	esv2764177	chr1:170367650-170387331	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
13	nsv1004916	chr1:170367650-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
14	nsv1000945	chr1:170367650-170401770	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
15	nsv514018	chr1:170367664-170386144	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
16	nsv1000840	chr1:170367736-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
17	nsv1000663	chr1:170370782-170387193	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
18	nsv1000790	chr1:170370782-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170376000-170385800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:170379200-170381400	Enhancers	NHLF	lung
3	chr1:170379800-170381200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:170380000-170381200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:170380200-170384600	Weak transcription	Ovary	ovary
6	chr1:170380400-170381200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:170380400-170384000	Weak transcription	Fetal Heart	heart
8	chr1:170380600-170381000	Weak transcription	Fetal Stomach	stomach
9	chr1:170380600-170381200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:170380600-170381400	Enhancers	NHDF-Ad	bronchial
11	chr1:170380600-170384000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:170380600-170384400	Weak transcription	HSMM	muscle
13	chr1:170380800-170383800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:170380800-170383800	Weak transcription	Osteobl	bone

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