Variant report

Variant	rs7643050
Chromosome Location	chr3:100697944-100697945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13085823	0.82[ASN][1000 genomes]
rs1375512	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1449299	0.91[ASN][1000 genomes]
rs1530731	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1579969	0.82[ASN][1000 genomes]
rs16843153	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17339226	0.86[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2713749	0.86[CHB][hapmap];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2713758	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55687619	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55936420	0.81[AMR][1000 genomes]
rs56077494	0.82[AMR][1000 genomes]
rs56237429	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59476872	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6774218	0.86[CHB][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6787197	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6787878	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73143044	0.81[AMR][1000 genomes]
rs73143061	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73143062	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73143064	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73143072	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73144908	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73144910	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73144915	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73144970	0.82[ASN][1000 genomes]
rs73149160	0.82[AMR][1000 genomes]
rs7621518	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7623956	0.86[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7625454	0.86[CHB][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7637274	0.81[AMR][1000 genomes]
rs7641631	0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs959713	0.92[AMR][1000 genomes];0.81[EUR][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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2757881	chr3:100613387-100776497	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759163	chr3:100613387-100776497	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100688400-100701800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:100692000-100700200	Weak transcription	HSMM	muscle
3	chr3:100692200-100701400	Weak transcription	Fetal Lung	lung
4	chr3:100692600-100711200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:100693000-100700400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:100694200-100698000	Enhancers	Colon Smooth Muscle	Colon
7	chr3:100694800-100700000	Weak transcription	Ovary	ovary
8	chr3:100696200-100702200	Enhancers	Fetal Stomach	stomach
9	chr3:100696400-100698400	Enhancers	NHLF	lung
10	chr3:100696600-100698000	Enhancers	Rectal Smooth Muscle	rectum
11	chr3:100696600-100698200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:100696800-100698000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:100696800-100698000	Enhancers	Fetal Muscle Leg	muscle
14	chr3:100696800-100698000	Enhancers	HSMMtube	muscle
15	chr3:100696800-100698000	Genic enhancers	NHDF-Ad	bronchial
16	chr3:100697000-100698800	Enhancers	Osteobl	bone
17	chr3:100697400-100698600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:100697600-100698600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr3:100697800-100698000	Enhancers	Psoas Muscle	Psoas
20	chr3:100697800-100699600	Weak transcription	Stomach Smooth Muscle	stomach

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