Variant report

Variant	rs4680351
Chromosome Location	chr3:157003212-157003213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr3:157003147-157004298	HUVEC	blood vessel:	n/a	chr3:157003745-157003759

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:156997473..157000192-chr3:157001265..157003413,2	K562	blood:
2	chr3:157001018..157003742-chr3:157209899..157211507,2	K562	blood:

Variant related genes	Relation type
ENSG00000243176	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1027603	0.96[CEU][hapmap];0.94[CHB][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.81[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10936076	0.80[EUR][1000 genomes]
rs10936085	0.88[CHB][hapmap]
rs10936086	0.83[CHB][hapmap]
rs10936087	0.83[CHB][hapmap]
rs12486304	0.88[CEU][hapmap]
rs12486427	0.83[CHB][hapmap]
rs12496879	0.96[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12638732	0.83[CHB][hapmap]
rs1403107	0.88[CEU][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes]
rs1456097	0.83[CHB][hapmap]
rs1500916	0.88[CHB][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs1500920	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs1500927	0.87[CEU][hapmap];0.91[YRI][hapmap]
rs1546261	0.85[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.93[LWK][hapmap];0.93[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1568609	0.94[CHB][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap]
rs1568612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1585080	0.83[CHB][hapmap]
rs1840668	0.83[CHB][hapmap]
rs2047649	0.88[CHB][hapmap]
rs2062607	0.82[EUR][1000 genomes]
rs2088810	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2088815	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs3816528	0.83[CHB][hapmap]
rs4640512	0.83[CHB][hapmap]
rs4680359	0.88[CHB][hapmap]
rs4680360	0.82[GIH][hapmap]
rs6441121	0.94[CHB][hapmap]
rs6441128	0.81[CHB][hapmap]
rs6771109	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6776647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6780399	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6801110	0.88[CHB][hapmap]
rs7614339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7617727	0.83[CHB][hapmap]
rs7631556	0.95[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7636413	0.86[ASW][hapmap];0.88[CEU][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap]
rs7639254	0.83[CHB][hapmap]
rs7643340	0.88[CEU][hapmap];0.85[YRI][hapmap]
rs885094	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs924517	0.94[CHB][hapmap];0.80[ASN][1000 genomes]
rs9289980	0.80[ASN][1000 genomes]
rs9857875	0.93[CHB][hapmap];0.83[JPT][hapmap]
rs9867618	0.94[CHB][hapmap]
rs9871290	0.83[CHB][hapmap]
rs988587	0.88[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.83[TSI][hapmap]
rs988588	0.94[CHB][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.81[TSI][hapmap]
rs9990136	0.94[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv877687	chr3:156924793-157044184	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4680351	SSR3	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156967200-157007800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:156988000-157005800	Weak transcription	Pancreas	Pancrea
3	chr3:156997000-157004400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:156997600-157003600	Weak transcription	K562	blood
5	chr3:156998800-157006000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:156999600-157003800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:157000600-157004000	Enhancers	NHDF-Ad	bronchial
8	chr3:157000600-157015400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:157000800-157004000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:157001600-157004000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:157001600-157008200	Weak transcription	NH-A	brain
12	chr3:157001800-157003400	Enhancers	Osteobl	bone
13	chr3:157001800-157004200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:157001800-157004400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:157002000-157003600	Weak transcription	NHLF	lung
16	chr3:157002600-157003600	Enhancers	Fetal Lung	lung
17	chr3:157003000-157003400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:157003000-157003600	Enhancers	Fetal Stomach	stomach
19	chr3:157003000-157004400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:157003000-157004600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr3:157003200-157003600	Enhancers	Fetal Brain Female	brain
22	chr3:157003200-157003800	Genic enhancers	HUVEC	blood vessel
23	chr3:157003200-157004600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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