Variant report

Variant	rs1386400
Chromosome Location	chr2:62898648-62898649
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	chr2:62897067..62900392-chr2:62900736..62904878,3	K562	blood:

Variant related genes	Relation type
ENSG00000115504	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10208675	1.00[ASW][hapmap];0.90[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1038570	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1038572	0.87[YRI][hapmap]
rs1038573	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11900596	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13398408	0.89[CHD][hapmap]
rs181723	0.87[ASN][1000 genomes]
rs2054835	0.87[ASN][1000 genomes]
rs2901518	0.87[ASN][1000 genomes]
rs2931488	1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[ASN][1000 genomes]
rs2969300	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs34503992	0.89[CHD][hapmap]
rs36009942	0.89[CHD][hapmap]
rs360786	0.89[CHD][hapmap]
rs360787	0.87[ASN][1000 genomes]
rs360788	0.87[ASN][1000 genomes]
rs360789	0.87[ASN][1000 genomes]
rs360790	0.87[ASN][1000 genomes]
rs360793	0.89[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs360794	0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs360795	0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs360796	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs360798	0.89[CHD][hapmap]
rs360802	0.89[CHD][hapmap];0.81[ASN][1000 genomes]
rs360805	0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs360806	0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4671049	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6745862	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6758263	0.87[ASN][1000 genomes]
rs6760804	1.00[ASW][hapmap];0.90[CEU][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.80[MKK][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7590973	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[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	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv874232	chr2:62758044-62906084	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv834237	chr2:62762743-62926036	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62887400-62899000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:62890000-62899000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:62890000-62899800	Weak transcription	Right Atrium	heart
4	chr2:62890400-62899000	Weak transcription	Ovary	ovary
5	chr2:62892200-62899400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:62892200-62899600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:62892400-62898800	Weak transcription	Placenta	Placenta
8	chr2:62893000-62899000	Weak transcription	NHLF	lung
9	chr2:62893200-62899800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:62893400-62899000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:62893600-62898800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:62893800-62898800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:62893800-62898800	Weak transcription	Fetal Lung	lung
14	chr2:62894000-62898800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:62894000-62899000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:62894000-62899400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:62894800-62899000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:62895800-62898800	Weak transcription	NHDF-Ad	bronchial
19	chr2:62895800-62899000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:62896600-62900000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:62897200-62900400	Enhancers	Stomach Smooth Muscle	stomach
22	chr2:62897800-62900400	Enhancers	Rectal Smooth Muscle	rectum
23	chr2:62898000-62901000	Enhancers	Fetal Heart	heart
24	chr2:62898000-62901000	Enhancers	HepG2	liver
25	chr2:62898200-62900000	Enhancers	Right Ventricle	heart
26	chr2:62898200-62900200	Enhancers	Fetal Intestine Small	intestine
27	chr2:62898200-62901000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:62898400-62899400	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:62898400-62900400	Enhancers	Adipose Nuclei	Adipose
30	chr2:62898400-62900400	Enhancers	Fetal Stomach	stomach
31	chr2:62898400-62900400	Enhancers	Placenta Amnion	Placenta Amnion
32	chr2:62898600-62901000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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