Variant report

Variant	rs62183811
Chromosome Location	chr2:172885096-172885097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172872308..172874513-chr2:172883342..172886066,2	MCF-7	breast:
2	chr2:172884857..172888115-chr2:172946694..172951424,5	K562	blood:
3	chr2:172874695..172877681-chr2:172884146..172886439,2	K562	blood:

Variant related genes	Relation type
ENSG00000144355	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1008152	0.83[AMR][1000 genomes]
rs17428174	0.80[AMR][1000 genomes]
rs17500114	0.83[AMR][1000 genomes]
rs3796058	0.81[AMR][1000 genomes]
rs55863868	0.86[AMR][1000 genomes]
rs62183808	0.81[AMR][1000 genomes]
rs62183817	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62183851	0.93[AMR][1000 genomes]
rs62183852	0.83[AMR][1000 genomes]
rs62183853	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6737876	0.83[AMR][1000 genomes]
rs6761111	0.83[AMR][1000 genomes]
rs72892835	0.84[AMR][1000 genomes]
rs72892859	0.83[AMR][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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172865200-172886600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172865600-172897400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:172865800-172886400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:172865800-172886600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:172866000-172886800	Weak transcription	HSMMtube	muscle
6	chr2:172874200-172886400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:172878200-172886400	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:172878400-172886000	Weak transcription	HepG2	liver
9	chr2:172878600-172886400	Weak transcription	Ovary	ovary
10	chr2:172878600-172886600	Weak transcription	Psoas Muscle	Psoas
11	chr2:172878600-172898200	Weak transcription	Primary B cells from cord blood	blood
12	chr2:172878800-172886600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:172882000-172886800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:172883400-172886200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:172883400-172886200	Weak transcription	K562	blood
16	chr2:172883600-172886000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:172883800-172886000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr2:172883800-172887200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:172884200-172886600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:172884800-172885200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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