Variant report

Variant	rs2084336
Chromosome Location	chr2:30402076-30402077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30401585..30406142-chr2:30413640..30418582,6	K562	blood:
2	chr2:30401355..30404897-chr2:30408823..30411581,5	K562	blood:
3	chr2:30401519..30404897-chr2:30408543..30411581,5	K562	blood:
4	chr2:30400496..30402774-chr2:30432166..30435110,2	K562	blood:
5	chr2:30400952..30403280-chr2:30405755..30407533,2	MCF-7	breast:
6	chr2:30397576..30399730-chr2:30399801..30402888,3	K562	blood:

Variant related genes	Relation type
ENSG00000207187	Chromatin interaction
ENSG00000231712	Chromatin interaction

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

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

rs_ID	r²[population]
rs1509578	1.00[JPT][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs1868072	1.00[JPT][hapmap]
rs1868073	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2361745	0.81[EUR][1000 genomes]
rs4952099	1.00[JPT][hapmap]
rs4952101	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6547997	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs6737446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][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	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
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30388800-30407200	Weak transcription	Brain Hippocampus Middle	brain
2	chr2:30400000-30405000	Enhancers	K562	blood
3	chr2:30400400-30402400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:30400400-30402600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:30400400-30403600	Enhancers	Left Ventricle	heart
6	chr2:30400600-30402400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:30400600-30402400	Enhancers	Spleen	Spleen
8	chr2:30400600-30402600	Enhancers	Lung	lung
9	chr2:30400600-30403000	Enhancers	Right Ventricle	heart
10	chr2:30400800-30402200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:30400800-30402200	Weak transcription	Small Intestine	intestine
12	chr2:30400800-30402400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:30400800-30404400	Enhancers	Fetal Heart	heart
14	chr2:30401000-30403000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:30401000-30403400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:30401200-30402200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:30401200-30402200	Enhancers	HSMM	muscle
18	chr2:30401400-30402200	Enhancers	NHDF-Ad	bronchial
19	chr2:30401400-30402400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:30401400-30402400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:30401400-30402400	Enhancers	Fetal Muscle Leg	muscle
22	chr2:30401400-30402400	Enhancers	Ovary	ovary
23	chr2:30401400-30402400	Enhancers	HSMMtube	muscle
24	chr2:30401600-30402200	Enhancers	Brain Anterior Caudate	brain
25	chr2:30401600-30402200	Bivalent Enhancer	Placenta	Placenta
26	chr2:30401600-30402200	Enhancers	NHLF	lung
27	chr2:30401600-30402400	Enhancers	Adipose Nuclei	Adipose
28	chr2:30401600-30403000	Enhancers	Right Atrium	heart
29	chr2:30401800-30402200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:30401800-30402200	Enhancers	Esophagus	oesophagus
31	chr2:30401800-30402200	Enhancers	Fetal Muscle Trunk	muscle
32	chr2:30401800-30402200	Bivalent Enhancer	Fetal Stomach	stomach
33	chr2:30401800-30402200	Enhancers	HMEC	breast
34	chr2:30401800-30402200	Bivalent Enhancer	NHEK	skin
35	chr2:30402000-30403400	Enhancers	Psoas Muscle	Psoas

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