Variant report

Variant	rs10418888
Chromosome Location	chr19:56829817-56829818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56825352..56829856-chr19:56831358..56835885,6	K562	blood:
2	chr19:56824639..56829612-chr19:56829732..56835885,11	K562	blood:
3	chr19:56165194..56167874-chr19:56829304..56831856,2	K562	blood:

Variant related genes	Relation type
ENSG00000063244	Chromatin interaction
ENSG00000266907	Chromatin interaction
ENSG00000213014	Chromatin interaction
ENSG00000131848	Chromatin interaction
ENSG00000267549	Chromatin interaction
ENSG00000200646	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10404293	0.85[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10424840	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs11084445	0.83[CHD][hapmap];0.88[MEX][hapmap]
rs11878278	0.93[ASN][1000 genomes]
rs11881864	0.86[ASW][hapmap];0.84[CEU][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2869159	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4801312	0.96[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56095857	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8107755	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
4	nsv526325	chr19:56741186-56852035	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
6	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
7	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
9	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1058026	chr19:56799847-56833153	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1067261	chr19:56820571-56854916	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10418888	RPS5	cis	parietal	SCAN
rs10418888	MZF1	cis	cerebellum	SCAN
rs10418888	ZNF550	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56827200-56832200	Weak transcription	Placenta	Placenta
2	chr19:56827200-56832400	Weak transcription	Lung	lung
3	chr19:56827200-56832600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:56827400-56831000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr19:56827400-56831000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr19:56827400-56832400	Weak transcription	Right Ventricle	heart
7	chr19:56827600-56830200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr19:56827600-56830800	Weak transcription	Colonic Mucosa	Colon
9	chr19:56827600-56832200	Weak transcription	Right Atrium	heart
10	chr19:56827600-56832800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr19:56827600-56832800	Weak transcription	Fetal Kidney	kidney
12	chr19:56827600-56835400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:56827800-56830000	Weak transcription	Primary B cells from cord blood	blood
14	chr19:56827800-56830000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:56827800-56830600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:56827800-56832000	Weak transcription	Left Ventricle	heart
17	chr19:56827800-56832600	Weak transcription	Fetal Heart	heart
18	chr19:56829000-56837000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr19:56829200-56831200	Weak transcription	K562	blood
20	chr19:56829200-56834200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr19:56829600-56832400	Weak transcription	Brain Hippocampus Middle	brain
22	chr19:56829600-56833600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr19:56829800-56831000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:56829800-56834000	Enhancers	Primary hematopoietic stem cells	blood
25	chr19:56829800-56834200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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