Variant report

Variant	rs72894613
Chromosome Location	chr2:183456489-183456490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11675377	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13432215	0.89[EUR][1000 genomes]
rs17265531	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17356575	0.84[EUR][1000 genomes]
rs35751249	0.84[EUR][1000 genomes]
rs6747216	0.80[EUR][1000 genomes]
rs72892747	0.83[EUR][1000 genomes]
rs72892751	0.86[EUR][1000 genomes]
rs72892780	0.84[EUR][1000 genomes]
rs72894609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72894626	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72894643	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72894653	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv875479	chr2:183442443-183482466	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv875480	chr2:183442443-183489249	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1837855	chr2:183452578-183499313	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183452000-183457600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:183452000-183457800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:183452200-183456600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:183452200-183457800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:183452800-183456800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:183453000-183457600	Weak transcription	HMEC	breast
7	chr2:183453000-183457600	Weak transcription	HSMM	muscle
8	chr2:183453000-183457800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:183453200-183457600	Weak transcription	NHEK	skin
10	chr2:183453200-183457800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:183453400-183457200	Weak transcription	NHLF	lung
12	chr2:183453400-183457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:183453400-183457400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:183453400-183457400	Weak transcription	NHDF-Ad	bronchial
15	chr2:183453400-183457400	Weak transcription	Osteobl	bone
16	chr2:183453400-183457600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:183453400-183457600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:183453400-183457600	Weak transcription	NH-A	brain
19	chr2:183454000-183457600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:183456000-183458200	Enhancers	HSMMtube	muscle
21	chr2:183456000-183459600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:183456000-183461200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:183456200-183458600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:183456200-183458600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:183456200-183459600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:183456400-183456800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr2:183456400-183457000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:183456400-183457200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr2:183456400-183458600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:183456400-183459800	Enhancers	HUES64 Cell Line	embryonic stem cell

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