Variant report

Variant	rs17012990
Chromosome Location	chr2:33640105-33640106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11124315	1.00[AMR][1000 genomes]
rs17012979	1.00[AMR][1000 genomes]
rs60715050	1.00[AMR][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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33629600-33641800	Weak transcription	Right Atrium	heart
2	chr2:33631200-33640200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:33634000-33645000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:33637200-33641600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:33637400-33642000	Weak transcription	NH-A	brain
6	chr2:33637600-33645000	Weak transcription	NHLF	lung
7	chr2:33637800-33645000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:33638200-33642000	Weak transcription	NHDF-Ad	bronchial
9	chr2:33638200-33642200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:33638200-33645000	Weak transcription	HSMM	muscle
11	chr2:33638200-33645400	Weak transcription	HSMMtube	muscle
12	chr2:33638400-33640600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:33638400-33640800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:33638600-33641600	Weak transcription	HUVEC	blood vessel
15	chr2:33638600-33644600	Weak transcription	A549	lung
16	chr2:33638600-33644800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:33639800-33640400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:33640000-33640200	Enhancers	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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