Variant report

Variant	rs10202379
Chromosome Location	chr2:100596865-100596866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100592090..100594325-chr2:100596473..100598386,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10187195	0.92[AFR][1000 genomes]
rs13023088	0.94[ASN][1000 genomes]
rs13032879	0.97[ASN][1000 genomes]
rs34490534	0.95[ASN][1000 genomes]
rs56909870	0.89[ASN][1000 genomes]
rs60473748	0.89[ASN][1000 genomes]
rs7573669	0.86[AFR][1000 genomes]
rs7577040	0.87[AFR][1000 genomes]
rs9308832	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1003114	chr2:100480432-100601586	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100550800-100618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:100563200-100625400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:100564800-100617000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:100570600-100598400	Weak transcription	Dnd41	blood
5	chr2:100573800-100599600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:100577400-100618200	Weak transcription	Aorta	Aorta
7	chr2:100577800-100603400	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:100577800-100607400	Weak transcription	Thymus	Thymus
9	chr2:100577800-100623000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:100577800-100623000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:100578000-100616200	Weak transcription	Fetal Thymus	thymus
12	chr2:100582400-100608000	Weak transcription	Fetal Stomach	stomach
13	chr2:100583200-100608000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr2:100586000-100598200	Weak transcription	Primary T cells from cord blood	blood
15	chr2:100587400-100599600	Weak transcription	Ovary	ovary
16	chr2:100587400-100601200	Weak transcription	Left Ventricle	heart
17	chr2:100587400-100623000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:100587400-100623000	Weak transcription	Spleen	Spleen
19	chr2:100589400-100598000	Weak transcription	Fetal Lung	lung
20	chr2:100590400-100618000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:100591000-100607200	Weak transcription	Brain Germinal Matrix	brain
22	chr2:100591400-100604200	Weak transcription	Fetal Heart	heart
23	chr2:100591400-100605000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:100592200-100601400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:100592400-100599000	Weak transcription	NHDF-Ad	bronchial
26	chr2:100592600-100601400	Strong transcription	Primary B cells from cord blood	blood
27	chr2:100592600-100626400	Weak transcription	NH-A	brain
28	chr2:100594000-100598400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:100594600-100623000	Weak transcription	Gastric	stomach
30	chr2:100595200-100598400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:100595400-100598400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:100595800-100601200	Weak transcription	Fetal Brain Female	brain
33	chr2:100596400-100597200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:100596600-100597000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:100596600-100597000	Enhancers	Osteobl	bone
36	chr2:100596600-100600600	Weak transcription	Fetal Brain Male	brain
37	chr2:100596600-100604600	Weak transcription	Rectal Smooth Muscle	rectum

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