Variant report

Variant	rs7563349
Chromosome Location	chr2:116051927-116051928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11900579	1.00[AMR][1000 genomes]
rs17044245	1.00[AMR][1000 genomes]
rs17044256	1.00[AMR][1000 genomes]
rs17044274	1.00[AMR][1000 genomes]
rs2420814	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001542	chr2:115920847-116082585	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv834339	chr2:115953298-116132979	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv964349	chr2:116051086-116054027	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116043400-116052400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:116050800-116054000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:116050800-116068000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:116051200-116052200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:116051200-116054000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:116051200-116054200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:116051400-116053400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:116051400-116054200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:116051600-116052400	Enhancers	Brain Angular Gyrus	brain
10	chr2:116051600-116052800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:116051600-116052800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:116051600-116053200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:116051600-116053200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:116051600-116053200	Enhancers	Brain Hippocampus Middle	brain
15	chr2:116051600-116053400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:116051800-116052000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:116051800-116052600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:116051800-116053200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:116051800-116053400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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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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