Variant report

Variant	rs3810095
Chromosome Location	chr19:51892850-51892851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr19:51892808-51892907	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51859965..51862618-chr19:51891276..51893885,2	K562	blood:
2	chr19:51841717..51843747-chr19:51891710..51894546,2	K562	blood:
3	chr19:51840838..51845657-chr19:51892354..51900411,18	K562	blood:
4	chr19:51889722..51893942-chr19:51894149..51900029,8	K562	blood:
5	chr19:51867772..51875803-chr19:51892381..51899756,21	K562	blood:
6	chr19:51889349..51894566-chr19:51895156..51899826,6	K562	blood:
7	chr19:51864453..51872845-chr19:51892428..51902096,29	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268889	TF binding region
LIM2	TF binding region
ENSG00000160318	Chromatin interaction
ENSG00000268520	Chromatin interaction
ENSG00000269403	Chromatin interaction
ENSG00000268889	Chromatin interaction
ENSG00000267905	Chromatin interaction
ENSG00000105379	Chromatin interaction
ENSG00000105374	Chromatin interaction
ENSG00000186806	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10404198	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10419880	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11084075	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11084076	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11084077	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11669975	0.89[ASN][1000 genomes]
rs11670065	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11673263	0.92[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2411321	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2411322	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2547308	0.97[ASN][1000 genomes]
rs2547309	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2741240	0.93[ASN][1000 genomes]
rs2741241	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3810093	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810094	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3810096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3810097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3826657	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3826658	0.98[ASN][1000 genomes]
rs3826659	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3826660	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3826662	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3826663	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3826664	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3826665	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4377257	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4441376	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7250926	0.93[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7251238	0.93[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7251311	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7251566	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7257275	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7508570	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8100861	0.89[ASN][1000 genomes]
rs8104425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8107533	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8111906	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3810095	CTD-2616J11.4	cis	Whole Blood	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51872000-51897000	Weak transcription	Right Atrium	heart
2	chr19:51887800-51893400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr19:51889200-51893600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr19:51889200-51893800	Weak transcription	GM12878-XiMat	blood
5	chr19:51889200-51897000	Weak transcription	Spleen	Spleen
6	chr19:51889400-51893000	Weak transcription	K562	blood
7	chr19:51890200-51893000	Flanking Active TSS	HepG2	liver
8	chr19:51890200-51893200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:51891000-51894400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:51891000-51897000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:51891200-51894200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:51891600-51897000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:51891800-51894000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:51891800-51897000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:51891800-51897000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:51891800-51897000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:51892000-51893400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr19:51892400-51894200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:51892400-51894200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr19:51892600-51893600	Flanking Active TSS	Fetal Intestine Large	intestine
21	chr19:51892600-51893600	Enhancers	Fetal Thymus	thymus
22	chr19:51892600-51894800	Active TSS	Fetal Intestine Small	intestine
23	chr19:51892600-51897000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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