Variant report

Variant	rs4844531
Chromosome Location	chr1:210729242-210729243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11119529	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs11119532	0.88[CEU][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs11119541	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs12040304	1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1316508	0.88[CEU][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs2501911	0.84[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv549106	chr1:210698719-210736508	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1011702	chr1:210706323-210739030	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1003105	chr1:210717288-210739030	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1014480	chr1:210717288-210743026	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210680600-210731000	Weak transcription	HSMM	muscle
2	chr1:210715600-210730800	Weak transcription	HSMMtube	muscle
3	chr1:210722000-210731800	Weak transcription	Right Ventricle	heart
4	chr1:210724600-210729800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:210725600-210729600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:210728000-210731200	Weak transcription	Gastric	stomach
7	chr1:210729000-210729600	Enhancers	Brain Germinal Matrix	brain
8	chr1:210729200-210729800	Weak transcription	H1 BMP4 Derived Mesendoderm 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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