Variant report

Variant	rs7263619
Chromosome Location	chr20:16447367-16447368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12624346	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12624938	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17671977	1.00[CHB][hapmap]
rs6034476	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs6080271	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs6111116	1.00[JPT][hapmap]
rs6111143	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs7262082	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8117949	0.84[YRI][hapmap]
rs8120353	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs8121801	1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833931	chr20:16308276-16460596	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7263619	C20orf12	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16392200-16453000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:16410200-16455800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr20:16410200-16473200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr20:16410600-16455400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr20:16411200-16455200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr20:16420400-16453000	Weak transcription	Left Ventricle	heart
7	chr20:16420800-16471400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr20:16431400-16454600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr20:16431400-16455400	Weak transcription	Fetal Lung	lung
10	chr20:16431400-16456000	Weak transcription	Liver	Liver
11	chr20:16431400-16463000	Weak transcription	Aorta	Aorta
12	chr20:16431400-16508200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:16431600-16450800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr20:16431800-16458400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr20:16431800-16462200	Weak transcription	Primary T cells from cord blood	blood
16	chr20:16433000-16456400	Weak transcription	Primary B cells from cord blood	blood
17	chr20:16436600-16464800	Weak transcription	Small Intestine	intestine
18	chr20:16437600-16453000	Weak transcription	Esophagus	oesophagus
19	chr20:16440000-16455000	Weak transcription	HSMM	muscle
20	chr20:16440400-16452800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr20:16440400-16454800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr20:16440400-16454800	Weak transcription	Adipose Nuclei	Adipose
23	chr20:16440400-16455400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr20:16440400-16468800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr20:16440600-16452600	Weak transcription	NHEK	skin
26	chr20:16440600-16452800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr20:16440600-16452800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr20:16440600-16454600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr20:16440600-16454800	Weak transcription	Brain Hippocampus Middle	brain
30	chr20:16440800-16454400	Weak transcription	Colon Smooth Muscle	Colon
31	chr20:16440800-16455400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr20:16440800-16456000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr20:16441200-16452600	Weak transcription	Stomach Mucosa	stomach
34	chr20:16441200-16454600	Weak transcription	Fetal Muscle Leg	muscle
35	chr20:16443200-16447400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr20:16443600-16468600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr20:16443800-16447600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr20:16443800-16447600	Weak transcription	Pancreas	Pancrea
39	chr20:16443800-16447800	Weak transcription	Psoas Muscle	Psoas
40	chr20:16443800-16453200	Weak transcription	Gastric	stomach
41	chr20:16443800-16469600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr20:16443800-16469600	Weak transcription	Lung	lung
43	chr20:16444000-16466800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr20:16444600-16450800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr20:16445200-16452000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr20:16446200-16447400	Weak transcription	HepG2	liver
47	chr20:16446200-16455600	Weak transcription	Fetal Intestine Large	intestine
48	chr20:16446200-16455800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr20:16446200-16455800	Weak transcription	Fetal Intestine Small	intestine

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