Variant report

Variant	rs2513087
Chromosome Location	chr11:64992238-64992239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64989845..64992675-chr11:65080993..65083924,3	MCF-7	breast:
2	chr11:64977931..64980208-chr11:64990996..64992937,3	K562	blood:
3	chr11:64988866..64990383-chr11:64992045..64994203,2	K562	blood:
4	chr11:64991684..64993403-chr11:65306861..65309115,2	K562	blood:
5	chr11:64980421..64987264-chr11:64991140..64994999,6	K562	blood:
6	chr11:64980421..64983038-chr11:64992029..64994539,2	K562	blood:
7	chr11:64983043..64986391-chr11:64991756..64994999,4	K562	blood:
8	chr11:64957988..64959551-chr11:64991502..64993463,2	K562	blood:
9	chr11:64990436..64992901-chr11:65015967..65018929,2	MCF-7	breast:
10	chr11:64490664..64492722-chr11:64991494..64993936,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168056	Chromatin interaction
ENSG00000197847	Chromatin interaction
ENSG00000149798	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs184734	0.88[AMR][1000 genomes]
rs239253	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs239254	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs239255	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs239256	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2904978	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs514076	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2513087	POLA2	Cis_1M	lymphoblastoid	RTeQTL
rs2513087	SLC22A20	cis	Esophagus Mucosa	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64950600-64992400	Weak transcription	Right Atrium	heart
2	chr11:64952400-64992800	Weak transcription	Fetal Heart	heart
3	chr11:64973800-64992600	Weak transcription	Fetal Kidney	kidney
4	chr11:64976600-64992600	Weak transcription	Psoas Muscle	Psoas
5	chr11:64977400-64998400	Weak transcription	Small Intestine	intestine
6	chr11:64977600-64993200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:64978400-64992800	Weak transcription	HSMM	muscle
8	chr11:64978600-64992800	Weak transcription	HSMMtube	muscle
9	chr11:64979200-64992400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:64979200-64993000	Weak transcription	Aorta	Aorta
11	chr11:64979400-64992400	Weak transcription	A549	lung
12	chr11:64979800-64992400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:64979800-64993000	Weak transcription	Ovary	ovary
14	chr11:64980200-64992600	Weak transcription	Colonic Mucosa	Colon
15	chr11:64980200-64993000	Weak transcription	Gastric	stomach
16	chr11:64980400-64992600	Weak transcription	Esophagus	oesophagus
17	chr11:64980400-64992600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:64980400-64993000	Weak transcription	Pancreas	Pancrea
19	chr11:64981000-64992600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:64981800-64993400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:64982200-64992400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:64983600-64993000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:64985200-64992600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:64986800-64992400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:64987200-64992400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:64987600-64992400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:64987600-64992400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:64987600-64992400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:64987600-64992400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:64987600-64992800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:64987600-64992800	Weak transcription	NHLF	lung
32	chr11:64987600-64993000	Weak transcription	Thymus	Thymus
33	chr11:64987800-64992400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:64988000-64992600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:64990200-64992400	Weak transcription	Adipose Nuclei	Adipose
36	chr11:64990200-64992400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:64990200-64992600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr11:64990200-64992600	Weak transcription	Lung	lung
39	chr11:64990200-64993000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr11:64990200-64993000	Weak transcription	Left Ventricle	heart
41	chr11:64990600-64992400	Weak transcription	Primary B cells from cord blood	blood
42	chr11:64990800-64992400	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:64990800-64992600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:64990800-64992800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:64990800-64992800	Weak transcription	Spleen	Spleen
46	chr11:64991000-64993000	Weak transcription	Brain Substantia Nigra	brain
47	chr11:64991200-64992400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:64991200-64992400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:64991400-64992400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr11:64991400-64992400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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