Variant report

Variant	rs12971970
Chromosome Location	chr19:47559273-47559274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10420139	0.82[ASN][1000 genomes]
rs10420852	0.83[ASN][1000 genomes]
rs11083859	0.85[ASN][1000 genomes]
rs11670435	0.81[ASN][1000 genomes]
rs4804021	0.84[ASN][1000 genomes]
rs58658028	0.84[ASN][1000 genomes]
rs60118491	0.89[ASN][1000 genomes]
rs61599759	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917664	chr19:47482403-48177720	Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	199 gene(s)	inside rSNPs	diseases
2	nsv912192	chr19:47499031-47562123	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv912193	chr19:47519134-47562123	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv912194	chr19:47540859-47562123	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv912195	chr19:47540859-47569003	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv3365822	chr19:47558062-47560860	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:47551800-47561000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:47552200-47568200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:47552800-47567000	Weak transcription	NHLF	lung
4	chr19:47553000-47567000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr19:47553000-47567800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:47553200-47559600	Weak transcription	Hela-S3	cervix
7	chr19:47556400-47567000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr19:47557200-47560000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:47558000-47582800	Weak transcription	Right Atrium	heart
10	chr19:47558800-47560600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:47559200-47559800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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Input of quick search could be:

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

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