Variant report

Variant	rs4814506
Chromosome Location	chr20:16511264-16511265
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	chr20:16509254..16511285-chr20:16547385..16550108,3	MCF-7	breast:
2	chr20:16510014..16512437-chr20:16553741..16556375,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089177	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1004895	0.90[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16997837	0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1997902	0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2092696	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2143986	0.86[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2143987	0.88[EUR][1000 genomes]
rs4440028	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6034531	0.86[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs6034532	0.87[EUR][1000 genomes]
rs6044080	0.86[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs6044082	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6044088	0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6044095	0.90[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6044096	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6044100	0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6044113	0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6075070	0.95[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6111174	0.86[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6111177	0.95[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6135791	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6135794	0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4814506	C20orf23	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16472800-16517400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr20:16485800-16521200	Weak transcription	Right Ventricle	heart
3	chr20:16489200-16512200	Weak transcription	Gastric	stomach
4	chr20:16489200-16521000	Weak transcription	Spleen	Spleen
5	chr20:16489400-16517600	Weak transcription	Pancreas	Pancrea
6	chr20:16492400-16517800	Weak transcription	Colon Smooth Muscle	Colon
7	chr20:16492600-16528800	Weak transcription	Primary B cells from cord blood	blood
8	chr20:16493000-16521200	Weak transcription	Liver	Liver
9	chr20:16493600-16516200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr20:16497600-16521600	Weak transcription	Brain Hippocampus Middle	brain
11	chr20:16501400-16511800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr20:16506200-16517800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr20:16506400-16517400	Weak transcription	Adipose Nuclei	Adipose
14	chr20:16507400-16527000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr20:16507800-16511400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:16507800-16512000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr20:16507800-16513800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr20:16508000-16511800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr20:16508000-16522000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr20:16508200-16511600	Enhancers	Stomach Mucosa	stomach
21	chr20:16508200-16512200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr20:16508400-16511600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr20:16508400-16512400	Enhancers	Fetal Intestine Small	intestine
24	chr20:16508400-16513000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr20:16508400-16536800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr20:16509000-16517400	Weak transcription	Left Ventricle	heart
27	chr20:16509000-16522000	Weak transcription	Aorta	Aorta
28	chr20:16509200-16553000	Weak transcription	Primary T cells from cord blood	blood
29	chr20:16509400-16517400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr20:16509600-16521600	Weak transcription	Fetal Muscle Leg	muscle
31	chr20:16509800-16517400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr20:16510200-16511600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr20:16510400-16511400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr20:16510400-16517400	Weak transcription	Small Intestine	intestine
35	chr20:16510600-16512400	Flanking Active TSS	A549	lung
36	chr20:16510800-16511400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr20:16510800-16511400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr20:16510800-16511400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr20:16510800-16511400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr20:16510800-16511400	Enhancers	HMEC	breast
41	chr20:16510800-16511600	Enhancers	Lung	lung
42	chr20:16510800-16511600	Flanking Active TSS	Hela-S3	cervix
43	chr20:16510800-16511600	Enhancers	NHDF-Ad	bronchial
44	chr20:16510800-16511800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr20:16510800-16512200	Enhancers	Ovary	ovary
46	chr20:16511000-16511400	Active TSS	Duodenum Mucosa	Duodenum
47	chr20:16511000-16511400	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr20:16511000-16511600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr20:16511000-16511600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr20:16511000-16511600	Active TSS	Colonic Mucosa	Colon

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