Variant report

Variant	rs1374724
Chromosome Location	chr2:30338632-30338633
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:30337708..30339938-chr2:30369818..30372688,2	K562	blood:
2	chr2:30337916..30339804-chr2:30387115..30389293,2	MCF-7	breast:
3	chr2:30313353..30314464-chr2:30338280..30339527,8	K562	blood:
4	chr2:30313436..30314334-chr2:30338241..30339544,4	MCF-7	breast:
5	chr2:30312844..30314414-chr2:30338159..30339562,13	MCF-7	breast:
6	chr2:30337518..30339089-chr2:30368226..30369771,2	K562	blood:
7	chr2:30145465..30146046-chr2:30338062..30338817,2	MCF-7	breast:
8	chr2:30248896..30249567-chr2:30338389..30339014,2	MCF-7	breast:
9	chr2:30330132..30332963-chr2:30337824..30339590,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119801	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12052275	0.93[ASN][1000 genomes]
rs13032140	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1345151	0.92[ASN][1000 genomes]
rs1509576	0.92[ASN][1000 genomes]
rs1509579	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17009154	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17009178	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1947144	0.80[ASN][1000 genomes]
rs2361751	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3768669	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3768670	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3768671	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4951982	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4952093	0.82[EUR][1000 genomes]
rs4952094	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56696610	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs57641749	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6547994	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6710956	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6718385	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6719849	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6739748	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6752385	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7585317	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7585724	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7603389	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7608690	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs935486	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr2:30335800-30338800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:30336000-30338800	Enhancers	HMEC	breast
3	chr2:30336000-30338800	Enhancers	NHDF-Ad	bronchial
4	chr2:30336000-30339000	Enhancers	NHLF	lung
5	chr2:30336200-30338800	Enhancers	HSMM	muscle
6	chr2:30336800-30338800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:30337000-30341600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:30337200-30338800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:30337800-30338800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:30338000-30338800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:30338200-30338800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:30338200-30338800	Enhancers	Brain Angular Gyrus	brain
13	chr2:30338200-30339200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:30338400-30338800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:30338400-30338800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr2:30338400-30338800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:30338400-30338800	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:30338400-30338800	Enhancers	Stomach Mucosa	stomach
19	chr2:30338400-30339000	Enhancers	Brain Anterior Caudate	brain
20	chr2:30338600-30338800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:30338600-30338800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:30338600-30338800	Enhancers	Ovary	ovary
23	chr2:30338600-30338800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
24	chr2:30338600-30338800	Enhancers	NH-A	brain
25	chr2:30338600-30338800	Enhancers	Osteobl	bone
26	chr2:30338600-30339000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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