Variant report

Variant	rs6544318
Chromosome Location	chr2:40527665-40527666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11888123	0.91[CEU][hapmap];0.86[TSI][hapmap]
rs11904139	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13001457	0.86[CEU][hapmap]
rs1990608	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2110744	0.95[CEU][hapmap];0.94[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2160236	0.83[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2160237	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4952402	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4952603	0.82[CEU][hapmap]
rs4952604	0.82[CEU][hapmap]
rs4952605	0.82[CEU][hapmap]
rs6544315	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6544316	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6544317	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6748881	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs727477	0.87[CEU][hapmap]
rs759384	0.91[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.81[ASN][1000 genomes]
rs998260	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv962524	chr2:40523031-40530466	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
5	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40512800-40530000	Weak transcription	NHDF-Ad	bronchial
2	chr2:40515200-40531400	Weak transcription	Osteobl	bone
3	chr2:40515800-40530400	Weak transcription	Right Ventricle	heart
4	chr2:40518200-40540600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:40520400-40530000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:40526400-40530000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:40526400-40531400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:40526600-40527800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:40526800-40527800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:40526800-40528000	Enhancers	Fetal Heart	heart
11	chr2:40526800-40528400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:40527000-40530400	Weak transcription	Left Ventricle	heart
13	chr2:40527200-40527800	Enhancers	NHEK	skin
14	chr2:40527400-40527800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:40527400-40527800	Weak transcription	HSMMtube	muscle
16	chr2:40527400-40528400	Enhancers	HSMM	muscle
17	chr2:40527600-40528000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:40527600-40528000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:40527600-40528000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:40527600-40528400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:40527600-40529800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:40527600-40531000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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