Variant report

Variant	rs4672081
Chromosome Location	chr2:56192818-56192819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56187210..56190071-chr2:56191391..56193290,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10185077	0.99[ASN][1000 genomes]
rs10192259	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11125611	0.94[ASN][1000 genomes]
rs11685113	0.80[EUR][1000 genomes]
rs12472832	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13431149	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1432560	0.98[ASN][1000 genomes]
rs1432561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1432563	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432564	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1465685	0.98[ASN][1000 genomes]
rs1583266	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1583267	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1897478	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2278366	0.98[ASN][1000 genomes]
rs2868984	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34552760	0.97[ASN][1000 genomes]
rs3972318	0.97[ASN][1000 genomes]
rs4258837	0.92[CHB][hapmap]
rs4453721	0.96[ASN][1000 genomes]
rs4635565	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4672080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4672082	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55805406	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6545531	0.97[ASN][1000 genomes]
rs6704991	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6721145	0.80[ASN][1000 genomes]
rs6724998	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6733881	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6733889	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6747490	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs724539	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs724540	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7422809	0.91[ASN][1000 genomes]
rs7561395	0.97[ASN][1000 genomes]
rs7561417	0.97[ASN][1000 genomes]
rs7564964	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs981037	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv874161	chr2:56154316-56203798	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 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	chr2:56186400-56193200	Weak transcription	NH-A	brain
2	chr2:56188800-56193000	Weak transcription	Fetal Lung	lung
3	chr2:56189000-56193200	Weak transcription	HSMM	muscle
4	chr2:56189200-56193000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:56189200-56193000	Weak transcription	Osteobl	bone
6	chr2:56189200-56193200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:56190800-56193000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:56191000-56195800	Enhancers	HUVEC	blood vessel
9	chr2:56192000-56194000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:56192200-56193000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:56192200-56194200	Enhancers	Colon Smooth Muscle	Colon
12	chr2:56192400-56194000	Enhancers	Ovary	ovary
13	chr2:56192400-56194000	Enhancers	Pancreas	Pancrea
14	chr2:56192400-56194200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:56192600-56193600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:56192600-56193800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:56192600-56194000	Enhancers	Fetal Muscle Leg	muscle
18	chr2:56192600-56194200	Enhancers	Adipose Nuclei	Adipose
19	chr2:56192800-56193400	Weak transcription	Spleen	Spleen
20	chr2:56192800-56193600	Weak transcription	Right Atrium	heart

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