Variant report

Variant	rs58345533
Chromosome Location	chr2:100219340-100219341
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	chr2:100212449..100215580-chr2:100217291..100220527,3	K562	blood:
2	chr2:100198164..100200829-chr2:100217078..100219374,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10514778	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17765792	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17782372	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17782408	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58378377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59396573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60357076	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60695941	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61379087	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62154468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62154470	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62154476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62154482	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62154484	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62154485	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62154487	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62154492	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62154519	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154521	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154522	0.89[AMR][1000 genomes]
rs62154524	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154526	0.85[EUR][1000 genomes]
rs62154528	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154529	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154530	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154533	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154535	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154536	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154538	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154540	0.82[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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100203200-100221400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:100203400-100221200	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:100204000-100221800	Weak transcription	Adipose Nuclei	Adipose
4	chr2:100207800-100219800	Strong transcription	Primary B cells from cord blood	blood
5	chr2:100210400-100219800	Weak transcription	Gastric	stomach
6	chr2:100210600-100224200	Weak transcription	Brain Germinal Matrix	brain
7	chr2:100211000-100234200	Weak transcription	Thymus	Thymus
8	chr2:100211000-100249600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:100211600-100219800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:100212800-100221400	Weak transcription	Ovary	ovary
11	chr2:100215400-100232000	Weak transcription	Lung	lung
12	chr2:100216800-100219600	Enhancers	Fetal Brain Male	brain
13	chr2:100217000-100258400	Weak transcription	Primary T cells from cord blood	blood
14	chr2:100217400-100219800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:100217400-100219800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:100217400-100219800	Enhancers	NHDF-Ad	bronchial
17	chr2:100217600-100219400	Enhancers	Fetal Kidney	kidney
18	chr2:100217600-100219600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:100217600-100219800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:100217800-100219600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:100217800-100219600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:100217800-100219600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:100218000-100219800	Enhancers	Fetal Heart	heart
24	chr2:100218000-100219800	Enhancers	Fetal Lung	lung
25	chr2:100218000-100219800	Enhancers	HSMMtube	muscle
26	chr2:100218200-100219600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:100218200-100219600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:100218200-100219600	Enhancers	Fetal Muscle Leg	muscle
29	chr2:100218200-100219800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:100218200-100226400	Weak transcription	Right Atrium	heart
31	chr2:100218200-100229200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:100218200-100241400	Weak transcription	Spleen	Spleen
33	chr2:100218600-100219600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:100218600-100219600	Enhancers	Osteobl	bone
35	chr2:100218800-100219800	Enhancers	HSMM	muscle
36	chr2:100218800-100221400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:100218800-100224200	Weak transcription	Fetal Brain Female	brain
38	chr2:100219000-100219400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:100219000-100219600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr2:100219000-100219600	Flanking Active TSS	NH-A	brain
41	chr2:100219000-100219800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:100219200-100219400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:100219200-100219600	Bivalent Enhancer	Fetal Stomach	stomach
44	chr2:100219200-100225000	Weak transcription	Primary B cells from peripheral blood	blood

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