Variant report

Variant	rs13344313
Chromosome Location	chr19:18517767-18517768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18483856..18486734-chr19:18517545..18519299,2	K562	blood:
2	chr19:18517494..18520054-chr19:18520925..18523519,2	MCF-7	breast:
3	chr19:18515749..18518459-chr19:18525942..18528660,2	K562	blood:
4	chr19:18499327..18502884-chr19:18515787..18519149,4	K562	blood:

Variant related genes	Relation type
ENSG00000130513	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1002640	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10421074	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10424080	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11086108	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11086110	0.88[CHB][hapmap];0.85[CHD][hapmap]
rs11670392	0.83[CHD][hapmap]
rs11671540	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11672385	0.83[CHD][hapmap]
rs12971295	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13382142	0.82[ASN][1000 genomes]
rs1469412	0.83[CHD][hapmap]
rs2303692	0.83[CHD][hapmap]
rs2888142	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34213500	0.88[CHD][hapmap]
rs35336015	0.84[ASN][1000 genomes]
rs35742476	0.83[CHD][hapmap]
rs4808135	0.83[CHD][hapmap]
rs4808800	0.91[ASN][1000 genomes]
rs4808803	0.82[CHD][hapmap]
rs4808807	0.83[CHD][hapmap]
rs7249760	0.83[CHD][hapmap]
rs7258891	0.88[CHD][hapmap]
rs8111824	0.88[CHD][hapmap]
rs8112969	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs888669	0.83[CHD][hapmap]
rs9749546	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs13344313	F2RL3	cis	cerebellum	SCAN
rs13344313	SUGP2	cis	parietal	SCAN
rs13344313	SSBP4	cis	lymphoblastoid	seeQTL
rs13344313	RAB8A	cis	parietal	SCAN
rs13344313	ZNF93	cis	cerebellum	SCAN
rs13344313	ABHD8	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18508400-18525400	Weak transcription	Right Atrium	heart
2	chr19:18508800-18525200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr19:18513000-18518800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr19:18513000-18518800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:18513000-18518800	Weak transcription	Colonic Mucosa	Colon
6	chr19:18513000-18525600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr19:18513200-18518600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:18513600-18518600	Weak transcription	GM12878-XiMat	blood
9	chr19:18513600-18518800	Weak transcription	K562	blood
10	chr19:18514000-18521200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:18514400-18518800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:18514600-18518600	Weak transcription	Primary B cells from cord blood	blood
13	chr19:18514800-18518800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:18514800-18523600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:18515000-18518800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:18515000-18518800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr19:18515200-18518800	Weak transcription	Fetal Intestine Small	intestine
18	chr19:18515200-18518800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr19:18515200-18521200	Weak transcription	Fetal Muscle Leg	muscle
20	chr19:18515200-18524800	Weak transcription	A549	lung
21	chr19:18515200-18524800	Weak transcription	HepG2	liver
22	chr19:18515200-18525000	Weak transcription	Fetal Intestine Large	intestine
23	chr19:18516200-18524800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr19:18517000-18518600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr19:18517200-18518600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr19:18517200-18521200	Weak transcription	Placenta	Placenta
27	chr19:18517400-18517800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:18517400-18518600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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