Variant report

Variant	rs1185407
Chromosome Location	chr13:39997170-39997171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11616809	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1323939	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1408178	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1408180	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1408181	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56828330	1.00[EUR][1000 genomes]
rs60460761	1.00[EUR][1000 genomes]
rs73458827	1.00[EUR][1000 genomes]
rs73458831	1.00[EUR][1000 genomes]
rs73458836	1.00[EUR][1000 genomes]
rs73458841	1.00[EUR][1000 genomes]
rs73458846	1.00[EUR][1000 genomes]
rs73458848	1.00[EUR][1000 genomes]
rs73458853	1.00[EUR][1000 genomes]
rs73458854	1.00[EUR][1000 genomes]
rs73458866	1.00[EUR][1000 genomes]
rs73458868	1.00[EUR][1000 genomes]
rs73458870	1.00[EUR][1000 genomes]
rs73458872	1.00[EUR][1000 genomes]
rs73458874	1.00[EUR][1000 genomes]
rs73458876	1.00[EUR][1000 genomes]
rs73458878	1.00[EUR][1000 genomes]
rs73460938	1.00[EUR][1000 genomes]
rs73460941	1.00[EUR][1000 genomes]
rs73460943	1.00[EUR][1000 genomes]
rs73460944	1.00[EUR][1000 genomes]
rs73460945	1.00[EUR][1000 genomes]
rs73460957	1.00[EUR][1000 genomes]
rs73460966	1.00[EUR][1000 genomes]
rs73460972	1.00[EUR][1000 genomes]
rs73460981	1.00[EUR][1000 genomes]
rs7993890	1.00[EUR][1000 genomes]
rs7994955	1.00[EUR][1000 genomes]
rs7999497	1.00[EUR][1000 genomes]
rs9315684	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9548762	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS 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 target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv900008	chr13:39962791-40020267	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39991400-39997600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr13:39992000-40018600	Weak transcription	Right Ventricle	heart
3	chr13:39992200-39997600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:39992400-39997400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:39993400-39997600	Weak transcription	Ovary	ovary
6	chr13:39994400-39997600	Weak transcription	Left Ventricle	heart
7	chr13:39994600-39997200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr13:39994600-39997600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr13:39994600-39997600	Weak transcription	Fetal Heart	heart
10	chr13:39994800-39997800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:39995000-39997200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr13:39995200-40001800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:39996000-40005600	Weak transcription	NHDF-Ad	bronchial
14	chr13:39996200-39998400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:39996800-39998000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr13:39997000-39997600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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