Variant report

Variant	rs384007
Chromosome Location	chr2:39162290-39162291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39150662..39153390-chr2:39161113..39162620,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1010859	0.80[CEU][hapmap];0.80[CHB][hapmap];0.81[AMR][1000 genomes]
rs10181808	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10204999	0.86[EUR][1000 genomes]
rs11681583	0.87[ASN][1000 genomes]
rs11689954	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs12712626	0.80[CHB][hapmap]
rs13035182	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17422748	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3099955	0.80[ASN][1000 genomes]
rs3099956	0.83[CHB][hapmap]
rs3099957	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs3099958	0.84[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes]
rs3099959	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3112159	0.80[CHB][hapmap]
rs3112163	0.90[CHB][hapmap]
rs3112175	0.85[ASN][1000 genomes]
rs373300	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs384421	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389023	0.91[EUR][1000 genomes]
rs434696	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4670266	0.83[CHB][hapmap]
rs4670268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6544180	0.82[EUR][1000 genomes]
rs6706091	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs6738069	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6754902	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7565111	0.83[CHB][hapmap]
rs8179664	0.91[CHB][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][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	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv3322415	chr2:39160473-39163021	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3350679	chr2:39160848-39162796	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39110200-39186800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:39143800-39164600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:39145800-39172800	Weak transcription	Lung	lung
4	chr2:39147000-39166600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:39149000-39164800	Weak transcription	Ovary	ovary
6	chr2:39150000-39186600	Weak transcription	Brain Anterior Caudate	brain
7	chr2:39150400-39184800	Weak transcription	Psoas Muscle	Psoas
8	chr2:39155800-39174800	Weak transcription	Fetal Lung	lung
9	chr2:39156800-39172800	Weak transcription	Adipose Nuclei	Adipose
10	chr2:39160400-39163000	Weak transcription	Aorta	Aorta
11	chr2:39160400-39164600	Weak transcription	HepG2	liver
12	chr2:39160400-39186600	Weak transcription	Pancreas	Pancrea
13	chr2:39161200-39164800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:39161400-39162400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:39161400-39172400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:39162000-39162800	Enhancers	Osteobl	bone
17	chr2:39162200-39162800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:39162200-39163800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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