Variant report

Variant	rs4384766
Chromosome Location	chr2:37733001-37733002
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10204024	0.82[JPT][hapmap]
rs11124584	0.83[ASN][1000 genomes]
rs11124585	0.83[ASN][1000 genomes]
rs11124586	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1113496	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11681193	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11686382	0.88[ASN][1000 genomes]
rs11693033	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11694646	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11890793	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12992054	0.87[ASN][1000 genomes]
rs12992431	0.86[ASN][1000 genomes]
rs12992720	0.88[ASN][1000 genomes]
rs12993204	0.88[ASN][1000 genomes]
rs12995330	0.81[ASN][1000 genomes]
rs13002004	0.89[ASN][1000 genomes]
rs13002345	0.89[ASN][1000 genomes]
rs13016394	0.88[ASN][1000 genomes]
rs13016831	0.87[ASN][1000 genomes]
rs2192940	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2192942	0.80[EUR][1000 genomes]
rs2192949	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2373110	0.81[AFR][1000 genomes]
rs4503967	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4670205	0.83[EUR][1000 genomes]
rs58367831	0.89[ASN][1000 genomes]
rs62135576	0.87[ASN][1000 genomes]
rs6734373	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6746868	0.81[EUR][1000 genomes]
rs72793797	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72793802	0.83[ASN][1000 genomes]
rs7561053	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7562026	0.88[ASN][1000 genomes]
rs7562161	0.88[ASN][1000 genomes]
rs7574012	0.82[EUR][1000 genomes]
rs7582204	0.82[EUR][1000 genomes]
rs7582414	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7584987	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs888101	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9678172	0.90[EUR][1000 genomes];0.87[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	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37709600-37738000	Weak transcription	Liver	Liver
2	chr2:37727800-37733200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:37728400-37733200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:37729200-37733200	Weak transcription	NHDF-Ad	bronchial
5	chr2:37731000-37733200	Enhancers	Fetal Heart	heart
6	chr2:37731000-37735800	Enhancers	Fetal Stomach	stomach
7	chr2:37731600-37733400	Enhancers	HSMMtube	muscle
8	chr2:37732000-37734400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:37732000-37734400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:37732000-37735600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:37732200-37733200	Enhancers	Psoas Muscle	Psoas
12	chr2:37732200-37733600	Enhancers	Stomach Smooth Muscle	stomach
13	chr2:37732200-37735600	Enhancers	Fetal Muscle Leg	muscle
14	chr2:37732200-37735600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:37732400-37733400	Weak transcription	HSMM	muscle
16	chr2:37732400-37733400	Weak transcription	NHLF	lung
17	chr2:37732400-37733600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:37732400-37734800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:37732400-37735000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:37732400-37735000	Weak transcription	Ovary	ovary
21	chr2:37732400-37736000	Enhancers	Colon Smooth Muscle	Colon
22	chr2:37732600-37734600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:37732600-37735200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:37732800-37735600	Enhancers	Rectal Smooth Muscle	rectum
25	chr2:37733000-37733400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr2:37733000-37733600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr2:37733000-37735800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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