Variant report

Variant	rs3049994
Chromosome Location	chr4:21545895-21545896
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs59586361	0.81[EUR][1000 genomes]
rs60492426	0.81[EUR][1000 genomes]
rs6813304	0.81[EUR][1000 genomes]
rs6836213	0.81[EUR][1000 genomes]
rs73252231	0.81[EUR][1000 genomes]
rs73252235	0.81[EUR][1000 genomes]
rs73252236	0.81[EUR][1000 genomes]
rs73252249	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv829879	chr4:21418568-21611002	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv998481	chr4:21421945-21608805	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv829880	chr4:21492426-21693816	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv997742	chr4:21515920-21575213	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1002353	chr4:21518045-21575213	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
7	nsv1001219	chr4:21518045-21580423	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
8	esv2760860	chr4:21518045-21580435	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
9	nsv525271	chr4:21519577-21575623	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
10	nsv470019	chr4:21519577-21576754	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
11	nsv593805	chr4:21519577-21576754	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
12	nsv1009425	chr4:21542141-21566178	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21542400-21546200	Weak transcription	Fetal Heart	heart
2	chr4:21544000-21546200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:21544400-21546200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:21544400-21546200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:21544800-21546000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:21544800-21546600	Active TSS	Fetal Kidney	kidney
7	chr4:21544800-21546800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:21545000-21546000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:21545000-21546400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:21545400-21546000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:21545600-21546200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr4:21545600-21546400	Active TSS	Fetal Muscle Trunk	muscle
13	chr4:21545600-21546600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr4:21545800-21546600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr4:21545800-21547000	Enhancers	HUES6 Cell Line	embryonic stem cell

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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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