Variant report

Variant	rs58471763
Chromosome Location	chr2:178618503-178618504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178616347..178619480-chr2:178623071..178625301,3	K562	blood:
2	chr2:178617088..178619453-chr2:178625433..178628284,2	K562	blood:
3	chr2:178615690..178619114-chr2:178629203..178632242,4	K562	blood:
4	chr2:178593465..178594969-chr2:178617292..178619155,2	K562	blood:
5	chr2:178605851..178612648-chr2:178616931..178621245,6	K562	blood:
6	chr2:178598484..178600375-chr2:178617502..178619853,2	MCF-7	breast:
7	chr2:178613827..178616533-chr2:178617278..178619906,2	K562	blood:

No data

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11886258	1.00[EUR][1000 genomes]
rs11901841	1.00[EUR][1000 genomes]
rs12620627	1.00[EUR][1000 genomes]
rs13428260	1.00[EUR][1000 genomes]
rs1344924	1.00[EUR][1000 genomes]
rs1358300	1.00[EUR][1000 genomes]
rs16865743	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56797590	1.00[EUR][1000 genomes]
rs57026464	1.00[EUR][1000 genomes]
rs57986087	1.00[EUR][1000 genomes]
rs59234264	1.00[EUR][1000 genomes]
rs59572353	1.00[EUR][1000 genomes]
rs61217406	0.82[AFR][1000 genomes]
rs61560417	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6714540	1.00[EUR][1000 genomes]
rs73026501	1.00[EUR][1000 genomes]
rs73028307	1.00[EUR][1000 genomes]
rs73028314	1.00[EUR][1000 genomes]
rs73028315	1.00[EUR][1000 genomes]
rs73028326	1.00[EUR][1000 genomes]
rs73028333	1.00[EUR][1000 genomes]
rs73028337	1.00[EUR][1000 genomes]
rs73028352	1.00[EUR][1000 genomes]
rs73028355	1.00[EUR][1000 genomes]
rs73030318	1.00[EUR][1000 genomes]
rs73030323	1.00[EUR][1000 genomes]
rs73030331	1.00[EUR][1000 genomes]
rs73030336	1.00[EUR][1000 genomes]
rs73030347	1.00[EUR][1000 genomes]
rs73030350	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73030357	1.00[EUR][1000 genomes]
rs73030362	1.00[EUR][1000 genomes]
rs73032055	1.00[EUR][1000 genomes]
rs73032059	1.00[EUR][1000 genomes]
rs73032072	1.00[EUR][1000 genomes]
rs73038286	1.00[EUR][1000 genomes]
rs73038287	1.00[EUR][1000 genomes]
rs73042837	1.00[EUR][1000 genomes]
rs73042842	1.00[EUR][1000 genomes]
rs7577598	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178610600-178628200	Weak transcription	Pancreas	Pancrea
2	chr2:178610800-178618800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:178614800-178624000	Enhancers	Fetal Muscle Leg	muscle
4	chr2:178617000-178619200	Enhancers	Fetal Kidney	kidney
5	chr2:178617400-178620000	Enhancers	Colon Smooth Muscle	Colon
6	chr2:178617600-178619600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:178617600-178619800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr2:178617800-178619200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:178617800-178619400	Enhancers	Fetal Heart	heart
10	chr2:178617800-178619600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:178617800-178621600	Enhancers	Ovary	ovary
12	chr2:178617800-178624000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:178617800-178624000	Enhancers	Fetal Lung	lung
14	chr2:178618000-178619200	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:178618200-178618800	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:178618200-178619400	Enhancers	Brain Hippocampus Middle	brain
17	chr2:178618200-178619600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:178618200-178619600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:178618200-178619800	Enhancers	Adipose Nuclei	Adipose
20	chr2:178618200-178620400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:178618200-178621400	Enhancers	Fetal Thymus	thymus
22	chr2:178618200-178621600	Enhancers	K562	blood
23	chr2:178618200-178623600	Enhancers	Fetal Stomach	stomach
24	chr2:178618400-178618600	Enhancers	Fetal Intestine Small	intestine
25	chr2:178618400-178618600	Enhancers	Stomach Mucosa	stomach
26	chr2:178618400-178618800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:178618400-178619200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:178618400-178619200	Enhancers	Brain Anterior Caudate	brain
29	chr2:178618400-178619400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:178618400-178619400	Enhancers	HSMMtube	muscle
31	chr2:178618400-178619600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:178618400-178619600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:178618400-178619600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr2:178618400-178619600	Enhancers	Lung	lung
35	chr2:178618400-178619600	Enhancers	Psoas Muscle	Psoas
36	chr2:178618400-178619600	Enhancers	Right Atrium	heart
37	chr2:178618400-178619800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:178618400-178620000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:178618400-178620200	Enhancers	Right Ventricle	heart
40	chr2:178618400-178620400	Enhancers	Left Ventricle	heart
41	chr2:178618400-178620600	Enhancers	Placenta	Placenta
42	chr2:178618400-178623200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:178618400-178628200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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