Variant report

Variant	rs6563695
Chromosome Location	chr13:39903243-39903244
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10507479	1.00[ASN][1000 genomes]
rs12428000	0.91[EUR][1000 genomes]
rs12583159	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583780	0.88[ASN][1000 genomes]
rs12585448	0.88[ASN][1000 genomes]
rs12585451	0.88[ASN][1000 genomes]
rs12585476	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17590635	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17628476	0.88[ASN][1000 genomes]
rs17628483	0.88[ASN][1000 genomes]
rs17628519	0.88[ASN][1000 genomes]
rs17628742	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17628771	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886171	1.00[ASN][1000 genomes]
rs2147130	0.91[EUR][1000 genomes]
rs2324254	0.88[ASN][1000 genomes]
rs2324255	0.88[ASN][1000 genomes]
rs2324257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2875296	0.88[ASN][1000 genomes]
rs2875298	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs34485296	0.82[ASN][1000 genomes]
rs57158348	0.89[ASN][1000 genomes]
rs57251095	0.91[EUR][1000 genomes]
rs58017746	0.88[ASN][1000 genomes]
rs58501663	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59729125	1.00[ASN][1000 genomes]
rs60535758	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7322148	0.91[EUR][1000 genomes]
rs7336602	0.96[ASN][1000 genomes]
rs73451012	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73451015	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73467374	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74044033	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs768577	0.91[ASN][1000 genomes]
rs7990125	0.94[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7998423	0.89[EUR][1000 genomes]
rs8253	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

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	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

Variant related diseases (count:1)

Disease	PMID	Source
Preeclampsia	23551011	GWAS catalog

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39899400-39904000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:39899400-39904000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:39899400-39904000	Weak transcription	Gastric	stomach
4	chr13:39899400-39904800	Weak transcription	Left Ventricle	heart
5	chr13:39899600-39903400	Weak transcription	Ovary	ovary
6	chr13:39900400-39903600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:39900400-39906800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr13:39900800-39903400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:39902200-39903400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:39902400-39904200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr13:39902400-39904200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr13:39902400-39904200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr13:39902600-39904200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr13:39902600-39904400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr13:39902600-39904400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr13:39902800-39904200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:39903000-39903400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr13:39903000-39903400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr13:39903000-39903800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr13:39903200-39903600	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr13:39903200-39910000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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