Variant report

Variant	rs10418015
Chromosome Location	chr19:36517655-36517656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36512890..36520143-chr19:36521963..36527491,9	K562	blood:

Variant related genes	Relation type
ENSG00000105270	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10420353	0.88[JPT][hapmap]
rs10421966	0.90[JPT][hapmap]
rs10426582	0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs12976812	0.95[JPT][hapmap]
rs12979093	0.83[EUR][1000 genomes]
rs12981654	0.91[JPT][hapmap]
rs34906485	0.80[EUR][1000 genomes]
rs3810445	0.84[AMR][1000 genomes]
rs4805154	0.91[JPT][hapmap]
rs4805155	0.83[EUR][1000 genomes]
rs4806252	0.84[EUR][1000 genomes]
rs4806253	0.84[EUR][1000 genomes]
rs56034793	0.82[EUR][1000 genomes]
rs62109743	0.83[EUR][1000 genomes]
rs6510521	0.83[AMR][1000 genomes]
rs7245762	0.81[EUR][1000 genomes]
rs7247057	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7250448	0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs7257383	0.80[EUR][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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv911641	chr19:36473677-36536938	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers 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 target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10418015	POLR2I///RPSA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36505600-36521000	Weak transcription	Fetal Brain Male	brain
2	chr19:36505800-36522000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:36505800-36522200	Weak transcription	Fetal Kidney	kidney
4	chr19:36505800-36522800	Weak transcription	Small Intestine	intestine
5	chr19:36506000-36522400	Weak transcription	NH-A	brain
6	chr19:36506000-36522800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:36506000-36523000	Weak transcription	HSMM	muscle
8	chr19:36506000-36523200	Weak transcription	Left Ventricle	heart
9	chr19:36506000-36523600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr19:36506200-36519400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:36506200-36519400	Strong transcription	Fetal Brain Female	brain
12	chr19:36506200-36522400	Strong transcription	Fetal Stomach	stomach
13	chr19:36506200-36522800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr19:36506200-36523000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:36506200-36523200	Weak transcription	HUVEC	blood vessel
16	chr19:36506200-36523400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:36506200-36523400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr19:36506400-36518800	Strong transcription	Osteobl	bone
19	chr19:36506400-36519600	Strong transcription	Fetal Muscle Leg	muscle
20	chr19:36506400-36519800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:36506400-36519800	Strong transcription	Stomach Smooth Muscle	stomach
22	chr19:36506400-36520400	Strong transcription	Brain Germinal Matrix	brain
23	chr19:36506400-36521600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr19:36506400-36521800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:36506400-36523000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr19:36506400-36544400	Weak transcription	GM12878-XiMat	blood
27	chr19:36506600-36518800	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr19:36506600-36519000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr19:36506600-36519600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:36506800-36519800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:36506800-36532400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:36507000-36532200	Weak transcription	Hela-S3	cervix
33	chr19:36507600-36518600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr19:36507600-36519200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:36507600-36521800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:36507800-36518800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:36507800-36519800	Strong transcription	Fetal Intestine Small	intestine
38	chr19:36508800-36519800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:36508800-36532400	Weak transcription	NHEK	skin
40	chr19:36510200-36518800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:36511400-36518200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:36511400-36518400	Strong transcription	Dnd41	blood
43	chr19:36511400-36518600	Strong transcription	Fetal Lung	lung
44	chr19:36511400-36518800	Strong transcription	A549	lung
45	chr19:36511400-36519000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:36511400-36519000	Strong transcription	Brain Anterior Caudate	brain
47	chr19:36511400-36519000	Strong transcription	Brain Cingulate Gyrus	brain
48	chr19:36511400-36519600	Strong transcription	Brain Angular Gyrus	brain
49	chr19:36511400-36519600	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr19:36511400-36519600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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