Variant report

Variant	rs58334841
Chromosome Location	chr2:178468354-178468355
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11896332	1.00[ASN][1000 genomes]
rs1949965	1.00[ASN][1000 genomes]
rs1949966	0.83[ASN][1000 genomes]
rs1986843	1.00[ASN][1000 genomes]
rs57691380	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57867889	0.85[EUR][1000 genomes]
rs58101370	1.00[ASN][1000 genomes]
rs58442927	1.00[ASN][1000 genomes]
rs59274646	1.00[ASN][1000 genomes]
rs59353759	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59903527	1.00[ASN][1000 genomes]
rs935427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv583689	chr2:178468008-178509820	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178462000-178468600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:178462800-178469000	Weak transcription	Small Intestine	intestine
3	chr2:178462800-178475600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:178462800-178482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:178463200-178471200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:178463200-178471200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:178463600-178468600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:178463800-178475400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:178464200-178468600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:178464200-178469200	Weak transcription	Brain Anterior Caudate	brain
11	chr2:178464200-178471200	Weak transcription	HUVEC	blood vessel
12	chr2:178464200-178482600	Weak transcription	Psoas Muscle	Psoas
13	chr2:178464200-178482600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:178464400-178469000	Weak transcription	Brain Angular Gyrus	brain
15	chr2:178464400-178469000	Weak transcription	Left Ventricle	heart
16	chr2:178464600-178482400	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:178465600-178469400	Enhancers	Fetal Muscle Leg	muscle
18	chr2:178466000-178468800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:178466800-178468400	Enhancers	Fetal Stomach	stomach
20	chr2:178467000-178468600	Enhancers	Fetal Intestine Small	intestine
21	chr2:178467000-178469200	Enhancers	Fetal Intestine Large	intestine
22	chr2:178467400-178469000	Enhancers	Fetal Brain Female	brain
23	chr2:178467600-178468400	Enhancers	Fetal Brain Male	brain
24	chr2:178467600-178468400	Flanking Active TSS	Fetal Lung	lung
25	chr2:178467600-178469000	Enhancers	Ovary	ovary
26	chr2:178467600-178469200	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr2:178467600-178469400	Enhancers	Liver	Liver
28	chr2:178467800-178468400	Enhancers	Rectal Smooth Muscle	rectum
29	chr2:178467800-178468600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:178468000-178468600	Active TSS	Fetal Kidney	kidney
31	chr2:178468000-178469000	Enhancers	HepG2	liver
32	chr2:178468200-178468400	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr2:178468200-178468400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr2:178468200-178469000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:178468200-178469000	Enhancers	Adipose Nuclei	Adipose

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