Variant report

Variant	rs57310418
Chromosome Location	chr13:94461048-94461049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10492636	0.84[AFR][1000 genomes]
rs10492638	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12427786	0.86[ASN][1000 genomes]
rs12427803	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12428209	0.86[ASN][1000 genomes]
rs12428875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429608	0.86[ASN][1000 genomes]
rs12429856	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17174721	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17174735	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17253234	0.86[ASN][1000 genomes]
rs17253241	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17253255	0.86[ASN][1000 genomes]
rs17253262	0.86[ASN][1000 genomes]
rs17253269	0.86[ASN][1000 genomes]
rs2389052	0.87[ASN][1000 genomes]
rs2892668	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs56003695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56118807	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs56396732	0.86[ASN][1000 genomes]
rs56970055	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs57002007	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs57433205	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs57605778	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs57800923	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs58232472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58794076	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs59283174	0.86[ASN][1000 genomes]
rs60257121	0.86[ASN][1000 genomes]
rs60393268	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61462500	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs61506126	0.86[ASN][1000 genomes]
rs74108858	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs74108860	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs74108861	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs74108875	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs74108888	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs74108889	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs74108892	0.86[ASN][1000 genomes]
rs74108894	0.86[ASN][1000 genomes]
rs74108896	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs74108897	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs74108898	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs74108901	0.86[ASN][1000 genomes]
rs74108902	0.86[ASN][1000 genomes]
rs74110903	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74110907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74111004	0.86[ASN][1000 genomes]
rs74111005	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs74111006	0.86[ASN][1000 genomes]
rs74111008	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs74111010	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs74111011	0.86[ASN][1000 genomes]
rs74111015	0.86[ASN][1000 genomes]
rs74111033	0.84[AFR][1000 genomes]
rs74111035	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948714	chr13:94100104-94699435	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv933807	chr13:94187158-94845505	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1045230	chr13:94277683-94764671	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv832684	chr13:94379507-94550853	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv948455	chr13:94451368-94988900	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94450200-94464200	Weak transcription	HSMM	muscle
2	chr13:94452200-94462000	Weak transcription	Ovary	ovary
3	chr13:94458400-94462600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:94459400-94461400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr13:94460000-94461400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr13:94460000-94462000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr13:94460000-94462400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr13:94460000-94463200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:94460200-94461400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:94460200-94461800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr13:94460200-94461800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr13:94460200-94462000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:94461000-94463000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr13:94461000-94464000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr13:94461000-94464800	Enhancers	Fetal Heart	heart

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