Variant report

Variant	rs6732228
Chromosome Location	chr2:190118070-190118071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10165458	1.00[AMR][1000 genomes]
rs10165488	1.00[AMR][1000 genomes]
rs10166867	1.00[AMR][1000 genomes]
rs10168625	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10176299	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10180374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10182790	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10182959	1.00[AMR][1000 genomes]
rs10190048	1.00[AMR][1000 genomes]
rs10193357	1.00[AMR][1000 genomes]
rs10195176	1.00[AMR][1000 genomes]
rs10200629	1.00[YRI][hapmap]
rs10202897	1.00[AMR][1000 genomes]
rs10203522	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10205215	1.00[YRI][hapmap]
rs10210715	1.00[AMR][1000 genomes]
rs13382234	1.00[AMR][1000 genomes]
rs13385828	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13389070	1.00[AMR][1000 genomes]
rs13392441	1.00[AMR][1000 genomes]
rs13395385	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13396958	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13398464	1.00[AMR][1000 genomes]
rs13401632	1.00[AMR][1000 genomes]
rs13405825	1.00[AMR][1000 genomes]
rs13407402	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13407452	1.00[YRI][hapmap]
rs13408124	1.00[AMR][1000 genomes]
rs13411962	1.00[AMR][1000 genomes]
rs13413060	1.00[YRI][hapmap]
rs13416565	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13419998	1.00[AMR][1000 genomes]
rs13420752	1.00[AMR][1000 genomes]
rs13421412	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13423791	1.00[AMR][1000 genomes]
rs13429781	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13430867	1.00[AMR][1000 genomes]
rs13431520	1.00[AMR][1000 genomes]
rs13433016	1.00[AMR][1000 genomes]
rs28475172	1.00[AMR][1000 genomes]
rs28712861	1.00[AMR][1000 genomes]
rs6757248	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1014747	chr2:190097979-190132854	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190113600-190118600	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:190114600-190118200	Weak transcription	NH-A	brain
3	chr2:190115000-190118600	Weak transcription	Fetal Stomach	stomach
4	chr2:190115200-190119000	Weak transcription	Aorta	Aorta
5	chr2:190115200-190119000	Weak transcription	Ovary	ovary
6	chr2:190115600-190126200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:190117600-190118200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:190117600-190118600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:190117600-190119000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:190117600-190119000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:190117600-190119000	Enhancers	Osteobl	bone
12	chr2:190117600-190119200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:190117800-190118400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:190117800-190118600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:190117800-190119000	Enhancers	HSMMtube	muscle
16	chr2:190117800-190119600	Flanking Active TSS	A549	lung
17	chr2:190117800-190119800	Flanking Active TSS	NHDF-Ad	bronchial
18	chr2:190117800-190120000	Enhancers	HSMM	muscle
19	chr2:190117800-190120000	Enhancers	NHLF	lung
20	chr2:190118000-190118200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:190118000-190119400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:190118000-190119800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:190118000-190119800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:190118000-190119800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:190118000-190119800	Enhancers	Fetal Lung	lung

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