Variant report

Variant	rs4603931
Chromosome Location	chr3:111480093-111480094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11916434	1.00[AMR][1000 genomes]
rs11919759	1.00[AMR][1000 genomes]
rs11922755	1.00[AMR][1000 genomes]
rs11925267	1.00[AMR][1000 genomes]
rs11929116	1.00[AMR][1000 genomes]
rs11929149	1.00[AMR][1000 genomes]
rs4277659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4308247	1.00[YRI][hapmap]
rs4309695	0.90[AFR][1000 genomes]
rs4349472	1.00[YRI][hapmap]
rs4373040	1.00[YRI][hapmap]
rs4396865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4429600	1.00[YRI][hapmap]
rs4464420	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4546124	1.00[YRI][hapmap]
rs4645114	1.00[YRI][hapmap]
rs6438005	1.00[YRI][hapmap]
rs6438010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6438011	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6762439	1.00[YRI][hapmap]
rs6763624	1.00[YRI][hapmap]
rs6768626	1.00[YRI][hapmap]
rs6770607	0.90[AFR][1000 genomes]
rs6782894	1.00[YRI][hapmap]
rs6786443	1.00[YRI][hapmap]
rs6791845	1.00[YRI][hapmap]
rs7640556	1.00[YRI][hapmap]

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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111471000-111480200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:111477400-111481800	Weak transcription	Left Ventricle	heart
3	chr3:111477600-111484600	Enhancers	HMEC	breast
4	chr3:111478000-111480200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:111478000-111484600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:111478800-111480600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:111478800-111484200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:111478800-111484200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:111478800-111484800	Enhancers	Rectal Smooth Muscle	rectum
10	chr3:111479000-111480800	Weak transcription	Adipose Nuclei	Adipose
11	chr3:111479200-111480600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:111479200-111482600	Weak transcription	HepG2	liver
13	chr3:111479600-111480600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:111479800-111480200	Weak transcription	Liver	Liver
15	chr3:111479800-111480400	Enhancers	HSMMtube	muscle
16	chr3:111479800-111480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:111479800-111481000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:111479800-111481000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr3:111479800-111481000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:111479800-111481000	Enhancers	Aorta	Aorta
21	chr3:111479800-111483800	Enhancers	A549	lung
22	chr3:111479800-111484400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr3:111479800-111484800	Enhancers	Osteobl	bone
24	chr3:111480000-111480200	Enhancers	HSMM	muscle
25	chr3:111480000-111480400	Enhancers	Stomach Smooth Muscle	stomach
26	chr3:111480000-111480400	Flanking Active TSS	NHEK	skin
27	chr3:111480000-111480600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:111480000-111480600	Flanking Active TSS	NHDF-Ad	bronchial
29	chr3:111480000-111480800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:111480000-111480800	Weak transcription	Esophagus	oesophagus
31	chr3:111480000-111484000	Enhancers	NH-A	brain
32	chr3:111480000-111484400	Enhancers	Colon Smooth Muscle	Colon
33	chr3:111480000-111484400	Enhancers	Hela-S3	cervix

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