Variant report

Variant	rs533420
Chromosome Location	chr11:64983278-64983279
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64981666..64983514-chr11:65194659..65196523,2	K562	blood:
2	chr11:64982257..64984604-chr11:64993334..64996229,2	MCF-7	breast:
3	chr11:64936286..64938198-chr11:64981682..64983744,2	K562	blood:
4	chr11:64983043..64986391-chr11:64991756..64994999,4	K562	blood:
5	chr11:64981702..64983459-chr11:65028915..65031631,2	K562	blood:

Variant related genes	Relation type
ENSG00000014138	Chromatin interaction
ENSG00000204710	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs184734	0.84[AFR][1000 genomes]
rs239256	1.00[YRI][hapmap]
rs2904978	1.00[YRI][hapmap]
rs514076	0.94[YRI][hapmap]
rs629710	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3380436	chr11:64982801-64985349	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs533420	SLC22A20	cis	Esophagus Mucosa	GTEx
rs533420	DPF2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 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	chr11:64978200-64986800	Weak transcription	HepG2	liver
8	chr11:64978400-64992200	Weak transcription	Stomach Mucosa	stomach
9	chr11:64978400-64992800	Weak transcription	HSMM	muscle
10	chr11:64978600-64992800	Weak transcription	HSMMtube	muscle
11	chr11:64978800-64987000	Weak transcription	NHDF-Ad	bronchial
12	chr11:64979200-64983400	Enhancers	Primary hematopoietic stem cells	blood
13	chr11:64979200-64986400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:64979200-64987000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:64979200-64992400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:64979200-64993000	Weak transcription	Aorta	Aorta
17	chr11:64979400-64984400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:64979400-64987000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:64979400-64992400	Weak transcription	A549	lung
20	chr11:64979600-64984800	Weak transcription	Fetal Brain Female	brain
21	chr11:64979600-64986400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:64979600-64990600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:64979600-64992200	Weak transcription	NHEK	skin
24	chr11:64979800-64984800	Weak transcription	Brain Germinal Matrix	brain
25	chr11:64979800-64984800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:64979800-64989800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:64979800-64992400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:64979800-64993000	Weak transcription	Ovary	ovary
29	chr11:64980000-64983400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr11:64980000-64986000	Weak transcription	Lung	lung
31	chr11:64980000-64989800	Weak transcription	Left Ventricle	heart
32	chr11:64980000-64992200	Weak transcription	HMEC	breast
33	chr11:64980200-64984600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:64980200-64992200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:64980200-64992600	Weak transcription	Colonic Mucosa	Colon
36	chr11:64980200-64993000	Weak transcription	Gastric	stomach
37	chr11:64980400-64985400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:64980400-64990000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:64980400-64992600	Weak transcription	Esophagus	oesophagus
40	chr11:64980400-64992600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:64980400-64993000	Weak transcription	Pancreas	Pancrea
42	chr11:64980800-64983400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr11:64981000-64992600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:64981200-64986400	Weak transcription	K562	blood
45	chr11:64981200-64986800	Weak transcription	Hela-S3	cervix
46	chr11:64981200-64987000	Weak transcription	NHLF	lung
47	chr11:64981200-64987200	Weak transcription	Adipose Nuclei	Adipose
48	chr11:64981200-64992200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:64981400-64985400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:64981400-64985600	Weak transcription	Fetal Stomach	stomach

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