Variant report

Variant	rs1438055
Chromosome Location	chr2:178557510-178557511
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178536377..178538004-chr2:178556463..178558808,2	K562	blood:
2	chr2:178556581..178559111-chr2:178571009..178573713,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1004541	0.81[ASN][1000 genomes]
rs1004542	0.81[ASN][1000 genomes]
rs10201180	0.81[ASN][1000 genomes]
rs10930805	0.81[ASN][1000 genomes]
rs11677821	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1347731	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1370662	0.81[ASN][1000 genomes]
rs1370663	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1370664	0.81[ASN][1000 genomes]
rs1438054	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1469972	0.81[ASN][1000 genomes]
rs1469973	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1561315	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1975321	0.81[ASN][1000 genomes]
rs1975322	0.81[ASN][1000 genomes]
rs2033760	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2164860	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2886424	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3731809	0.81[ASN][1000 genomes]
rs3770023	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4893980	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4893981	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4893982	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4893984	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4893985	0.81[ASN][1000 genomes]
rs6718702	0.81[ASN][1000 genomes]
rs6760930	0.81[ASN][1000 genomes]
rs7596360	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs934809	0.81[ASN][1000 genomes]
rs999218	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv431812	chr2:178525371-178584470	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007925	chr2:178535922-178577002	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv870023	chr2:178545623-178581407	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1005854	chr2:178546907-178586608	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2762967	chr2:178546919-178577002	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1005991	chr2:178550049-178577002	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv528219	chr2:178551924-178567151	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1003983	chr2:178551958-178577002	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178554800-178557800	Weak transcription	Gastric	stomach
2	chr2:178555000-178558600	Weak transcription	Stomach Mucosa	stomach
3	chr2:178555200-178557800	Weak transcription	K562	blood
4	chr2:178555400-178559200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:178555400-178559800	Enhancers	Fetal Kidney	kidney
6	chr2:178556200-178557800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:178556200-178558000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:178556400-178558400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:178556400-178558400	Enhancers	Hela-S3	cervix
10	chr2:178556400-178558600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:178556600-178557600	Weak transcription	Pancreas	Pancrea
12	chr2:178556600-178557800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:178556600-178557800	Weak transcription	Ovary	ovary
14	chr2:178556600-178558000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:178556600-178558200	Enhancers	NHEK	skin
16	chr2:178556800-178558000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:178557000-178557800	Flanking Active TSS	HepG2	liver
18	chr2:178557000-178558000	Enhancers	Fetal Intestine Large	intestine
19	chr2:178557000-178558200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:178557000-178558200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:178557000-178558200	Enhancers	HMEC	breast
22	chr2:178557000-178558400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:178557200-178557600	Flanking Active TSS	Liver	Liver
24	chr2:178557200-178557600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:178557200-178558000	Enhancers	Duodenum Mucosa	Duodenum
26	chr2:178557200-178558200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:178557200-178558200	Enhancers	Fetal Intestine Small	intestine
28	chr2:178557400-178557800	Active TSS	A549	lung
29	chr2:178557400-178560200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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