Variant report

Variant	rs4631748
Chromosome Location	chr1:78508601-78508602
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1001070	0.84[AMR][1000 genomes]
rs1001103	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1001104	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1039863	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs10437022	0.82[AMR][1000 genomes]
rs10735751	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10873960	0.82[AMR][1000 genomes]
rs10873962	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10873963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11162403	0.86[AMR][1000 genomes]
rs11162406	0.83[AMR][1000 genomes]
rs1166696	0.84[ASN][1000 genomes]
rs1166699	0.84[ASN][1000 genomes]
rs1166700	0.94[CHB][hapmap];0.80[JPT][hapmap];0.83[YRI][hapmap];0.84[ASN][1000 genomes]
rs11811805	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap]
rs1335481	0.86[AMR][1000 genomes]
rs1510244	0.87[ASN][1000 genomes]
rs1749911	0.82[ASN][1000 genomes]
rs1749913	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs1780044	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1780045	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1780047	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1780048	0.84[ASN][1000 genomes]
rs1855704	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1971368	0.86[AMR][1000 genomes]
rs2136682	0.84[AMR][1000 genomes]
rs2296452	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap]
rs2296454	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs3736909	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs3767024	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs3767025	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap]
rs3790586	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4083559	0.83[ASN][1000 genomes]
rs4107671	0.87[ASN][1000 genomes]
rs4370803	0.82[AMR][1000 genomes]
rs4372306	0.86[AMR][1000 genomes]
rs4483454	0.84[ASN][1000 genomes]
rs4543852	0.87[ASN][1000 genomes]
rs6424640	0.87[AMR][1000 genomes]
rs6424648	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap]
rs6424650	0.89[AMR][1000 genomes]
rs6424653	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs6424660	0.95[AMR][1000 genomes]
rs6424664	0.86[AMR][1000 genomes]
rs6424668	0.86[AMR][1000 genomes]
rs6656888	0.89[AMR][1000 genomes]
rs6675105	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6677890	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6680447	0.87[ASN][1000 genomes]
rs6686230	0.82[AMR][1000 genomes]
rs6699513	0.97[ASN][1000 genomes]
rs6702465	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7514007	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7520255	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7524504	0.87[ASN][1000 genomes]
rs7538210	0.86[AMR][1000 genomes]
rs7547599	0.83[CHB][hapmap]
rs9661687	0.83[ASN][1000 genomes]
rs9662129	0.93[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs9729146	0.93[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs9730688	0.84[AMR][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	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78486400-78509400	Weak transcription	HSMM	muscle
2	chr1:78499400-78509200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:78499600-78509200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:78504000-78510400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:78504200-78509200	Weak transcription	NHLF	lung
6	chr1:78504200-78509400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:78504400-78509200	Weak transcription	Hela-S3	cervix
8	chr1:78504400-78510400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:78505000-78511000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:78505200-78510400	Weak transcription	HUVEC	blood vessel
11	chr1:78505600-78509200	Weak transcription	Right Ventricle	heart
12	chr1:78506800-78510800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:78507600-78509800	Enhancers	Pancreas	Pancrea
14	chr1:78508000-78510400	Enhancers	Fetal Intestine Small	intestine
15	chr1:78508400-78509200	Enhancers	HepG2	liver
16	chr1:78508400-78510400	Enhancers	Fetal Intestine Large	intestine
17	chr1:78508600-78511000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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