Variant report

Variant	rs1972991
Chromosome Location	chr3:100704546-100704547
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12497675	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12630679	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1449311	0.89[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs1529955	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.95[YRI][hapmap]
rs1551040	0.84[ASN][1000 genomes]
rs1900908	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2576368	0.91[JPT][hapmap]
rs2713757	0.82[JPT][hapmap]
rs7611522	0.88[ASN][1000 genomes]
rs9290276	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9883684	0.94[ASN][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100692600-100711200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:100700400-100711200	Weak transcription	Esophagus	oesophagus
3	chr3:100701800-100711000	Weak transcription	Aorta	Aorta
4	chr3:100702000-100705200	Enhancers	NHDF-Ad	bronchial
5	chr3:100702000-100707000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:100702000-100707000	Weak transcription	Gastric	stomach
7	chr3:100702000-100710200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:100702000-100710800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:100702200-100704600	Weak transcription	HSMMtube	muscle
10	chr3:100702200-100708200	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:100702200-100709800	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:100702200-100711000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:100702400-100708800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:100702400-100708800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:100702400-100710000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:100703400-100707000	Weak transcription	Fetal Stomach	stomach
17	chr3:100703600-100706800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:100703600-100709600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:100703600-100709600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:100703800-100704800	Weak transcription	Osteobl	bone
21	chr3:100703800-100709600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:100703800-100709600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:100704400-100705400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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