Variant report

Variant	rs58967333
Chromosome Location	chr5:52164962-52164963
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	chr5:52097069..52099720-chr5:52163479..52166122,2	K562	blood:
2	chr5:52164377..52165951-chr5:52222727..52224396,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10041465	1.00[AMR][1000 genomes]
rs10042066	1.00[AMR][1000 genomes]
rs10051793	1.00[AMR][1000 genomes]
rs10054754	1.00[AMR][1000 genomes]
rs10060045	1.00[AMR][1000 genomes]
rs10063089	1.00[AMR][1000 genomes]
rs10078136	1.00[AMR][1000 genomes]
rs10471821	1.00[AMR][1000 genomes]
rs13357745	1.00[AMR][1000 genomes]
rs13360413	1.00[AMR][1000 genomes]
rs16880037	1.00[AMR][1000 genomes]
rs16880039	1.00[AMR][1000 genomes]
rs28666730	1.00[AMR][1000 genomes]
rs28701709	1.00[AMR][1000 genomes]
rs59337949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61126266	1.00[AMR][1000 genomes]
rs6450077	1.00[AMR][1000 genomes]
rs6882082	1.00[AMR][1000 genomes]
rs6886933	1.00[AMR][1000 genomes]
rs73108322	1.00[AMR][1000 genomes]
rs7729056	1.00[AMR][1000 genomes]
rs9291996	1.00[AMR][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	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1032554	chr5:52126688-52174119	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52142000-52220200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:52142200-52166400	Weak transcription	Spleen	Spleen
3	chr5:52143600-52173600	Weak transcription	Left Ventricle	heart
4	chr5:52145800-52181000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:52146800-52166000	Weak transcription	HepG2	liver
6	chr5:52150200-52166400	Weak transcription	Fetal Intestine Small	intestine
7	chr5:52153200-52166400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:52154200-52166400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:52156000-52166400	Weak transcription	Lung	lung
10	chr5:52156000-52180400	Weak transcription	Placenta	Placenta
11	chr5:52156200-52166000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:52157400-52166200	Weak transcription	NHEK	skin
13	chr5:52157600-52166200	Weak transcription	Aorta	Aorta
14	chr5:52158400-52176800	Weak transcription	Primary T cells from cord blood	blood
15	chr5:52159800-52166400	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:52159800-52166400	Weak transcription	Small Intestine	intestine
17	chr5:52159800-52191800	Weak transcription	Pancreas	Pancrea
18	chr5:52160200-52166200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:52160600-52166000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:52160600-52166000	Weak transcription	HMEC	breast
21	chr5:52160800-52165000	Strong transcription	Liver	Liver
22	chr5:52160800-52165400	Weak transcription	Fetal Kidney	kidney
23	chr5:52160800-52166000	Weak transcription	Osteobl	bone
24	chr5:52161000-52165400	Weak transcription	Fetal Lung	lung
25	chr5:52161000-52165400	Weak transcription	NHDF-Ad	bronchial
26	chr5:52161000-52166200	Weak transcription	HSMM	muscle
27	chr5:52161000-52166400	Weak transcription	NH-A	brain
28	chr5:52161000-52172600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr5:52161000-52183200	Weak transcription	Fetal Stomach	stomach
30	chr5:52161000-52191000	Weak transcription	Ovary	ovary
31	chr5:52161200-52165800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:52161400-52165000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:52161400-52166000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:52161600-52166400	Weak transcription	NHLF	lung
35	chr5:52161800-52166000	Weak transcription	HSMMtube	muscle
36	chr5:52162400-52165600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr5:52163000-52165800	Weak transcription	Fetal Intestine Large	intestine
38	chr5:52163200-52165000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:52163200-52165200	Enhancers	Right Atrium	heart
40	chr5:52163400-52183000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr5:52163600-52191000	Weak transcription	Right Ventricle	heart
42	chr5:52163800-52165200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:52164000-52166200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:52164400-52165000	Genic enhancers	Adipose Nuclei	Adipose
45	chr5:52164400-52165000	Strong transcription	Colon Smooth Muscle	Colon
46	chr5:52164600-52165000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:52164600-52166000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr5:52164800-52165000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
49	chr5:52164800-52165800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:52164800-52166400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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