Variant report

Variant	rs10246940
Chromosome Location	chr7:70755184-70755185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10265527	0.87[JPT][hapmap]
rs10268327	0.83[CEU][hapmap];0.87[JPT][hapmap]
rs10271589	0.83[CEU][hapmap];0.87[JPT][hapmap]
rs10807731	0.86[JPT][hapmap]
rs10950257	0.91[JPT][hapmap]
rs11765927	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12154870	0.87[JPT][hapmap]
rs12155133	0.86[JPT][hapmap]
rs12534549	0.80[ASN][1000 genomes]
rs12536668	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1317290	0.86[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1317429	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1317892	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17143199	0.87[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1922525	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1950148	0.86[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2091792	0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs2107796	0.82[CEU][hapmap];0.84[JPT][hapmap]
rs2107797	0.83[CEU][hapmap];0.87[JPT][hapmap]
rs2527294	0.87[JPT][hapmap]
rs2527310	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs2707432	0.87[JPT][hapmap]
rs28479972	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28664864	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28678480	0.85[ASN][1000 genomes]
rs3973938	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs4445102	0.84[JPT][hapmap]
rs4520056	0.84[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4584034	0.86[JPT][hapmap]
rs4719104	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4719106	0.86[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4719107	0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4719113	0.86[JPT][hapmap]
rs4719116	0.86[JPT][hapmap]
rs4719117	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs56166024	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57442026	0.80[ASN][1000 genomes]
rs59972409	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460652	0.80[ASN][1000 genomes]
rs6460653	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs6957946	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6976592	0.80[ASN][1000 genomes]
rs7385083	0.87[JPT][hapmap]
rs7787933	0.86[JPT][hapmap]
rs7788793	0.87[JPT][hapmap]
rs7796585	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9638614	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9638616	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9638620	0.86[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9654908	0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1033155	chr7:70712368-70757929	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70732400-70755400	Weak transcription	Right Atrium	heart
2	chr7:70751200-70755400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:70751200-70768200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:70751600-70757200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:70751800-70768600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:70751800-70768800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:70752000-70755200	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:70752200-70755200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:70752200-70755200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:70752200-70755400	Weak transcription	Brain Angular Gyrus	brain
11	chr7:70752200-70773000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:70752600-70755200	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:70752800-70755200	Weak transcription	Fetal Lung	lung
14	chr7:70753800-70760200	Weak transcription	Ovary	ovary
15	chr7:70754200-70757200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:70754800-70756000	Enhancers	Left Ventricle	heart
17	chr7:70755000-70755800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:70755000-70755800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:70755000-70756000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:70755000-70756000	Enhancers	Colon Smooth Muscle	Colon
21	chr7:70755000-70756000	Enhancers	Fetal Heart	heart
22	chr7:70755000-70756000	Enhancers	Rectal Smooth Muscle	rectum

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