Variant report

Variant	rs7630817
Chromosome Location	chr3:142536524-142536525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142535398..142538098-chr3:142539091..142541502,2	K562	blood:
2	chr3:142535626..142538451-chr3:142545286..142548849,3	K562	blood:

Variant related genes	Relation type
ENSG00000163710	Chromatin interaction
ENSG00000240950	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs13324817	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1479135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1479138	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2199714	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55820583	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56022646	1.00[EUR][1000 genomes]
rs56050554	1.00[EUR][1000 genomes]
rs56062708	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56921402	1.00[EUR][1000 genomes]
rs57625476	1.00[EUR][1000 genomes]
rs58421597	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58980616	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59456283	1.00[EUR][1000 genomes]
rs59936227	1.00[EUR][1000 genomes]
rs60399161	1.00[EUR][1000 genomes]
rs60403314	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60701561	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61244634	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61300208	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61326325	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6440101	1.00[EUR][1000 genomes]
rs6765644	1.00[EUR][1000 genomes]
rs6770411	1.00[EUR][1000 genomes]
rs6777735	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6791858	1.00[EUR][1000 genomes]
rs6798670	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72988608	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72988609	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72988618	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72988639	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72990712	1.00[EUR][1000 genomes]
rs72990731	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72990738	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72990743	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72992638	1.00[EUR][1000 genomes]
rs72992653	1.00[EUR][1000 genomes]
rs73002081	1.00[EUR][1000 genomes]
rs73002088	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73002089	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73002093	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003968	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73003973	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73864409	1.00[EUR][1000 genomes]
rs73864413	1.00[EUR][1000 genomes]
rs73864431	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7615480	1.00[EUR][1000 genomes]
rs7620068	1.00[EUR][1000 genomes]
rs7620319	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7625764	1.00[EUR][1000 genomes]
rs7628187	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7648475	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7653387	1.00[EUR][1000 genomes]
rs9837730	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000631	chr3:142516367-142572058	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142499400-142547800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:142514800-142572000	Weak transcription	Right Ventricle	heart
3	chr3:142519000-142572000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:142522200-142551800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:142523800-142539400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:142524800-142561000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:142525000-142538600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:142525000-142543800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:142525000-142555800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:142525200-142539000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:142527600-142547400	Weak transcription	A549	lung
12	chr3:142528400-142569400	Weak transcription	Left Ventricle	heart
13	chr3:142531000-142541600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:142531000-142541600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:142533400-142539400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:142534400-142547400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:142534800-142538000	Strong transcription	Liver	Liver
18	chr3:142534800-142538400	Strong transcription	Adipose Nuclei	Adipose
19	chr3:142535800-142559200	Weak transcription	Aorta	Aorta
20	chr3:142536000-142537400	Enhancers	Fetal Heart	heart
21	chr3:142536400-142540400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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