Variant report

Variant	rs2309730
Chromosome Location	chr2:100301506-100301507
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	chr2:100299075..100301872-chr2:100304774..100308088,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13402908	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1543254	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2043007	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2309723	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6715849	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6761895	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs882855	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	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
4	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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100253200-100308800	Weak transcription	Gastric	stomach
2	chr2:100257600-100308600	Weak transcription	Thymus	Thymus
3	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:100276400-100302000	Weak transcription	Left Ventricle	heart
5	chr2:100282600-100308600	Weak transcription	Ovary	ovary
6	chr2:100286000-100305600	Weak transcription	Fetal Thymus	thymus
7	chr2:100286600-100336800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:100288800-100302200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:100290200-100305000	Strong transcription	Primary B cells from cord blood	blood
10	chr2:100290600-100304800	Weak transcription	Fetal Kidney	kidney
11	chr2:100291200-100310800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:100291600-100307800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr2:100294600-100318400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:100295600-100311800	Weak transcription	Fetal Brain Female	brain
15	chr2:100296200-100311600	Weak transcription	Fetal Brain Male	brain
16	chr2:100296400-100307800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:100296600-100308400	Weak transcription	Right Atrium	heart
18	chr2:100297000-100302600	Weak transcription	Primary T cells from cord blood	blood
19	chr2:100297000-100312400	Weak transcription	Fetal Lung	lung
20	chr2:100297800-100308600	Weak transcription	Lung	lung
21	chr2:100298000-100308400	Weak transcription	Adipose Nuclei	Adipose
22	chr2:100299400-100305000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:100299400-100305400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:100299600-100310800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:100299800-100302000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:100300800-100305000	Weak transcription	Fetal Muscle Leg	muscle

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