Variant report

Variant	rs2144184
Chromosome Location	chr20:10891798-10891799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:10891680-10891830	AoAF	blood vessel:	n/a	chr20:10891780-10891789
2	MYC	chr20:10891643-10891804	MCF10A-Er-Src	breast:	n/a	n/a
3	CTCF	chr20:10891700-10891850	HCPEpiC	choroid plexus:	n/a	chr20:10891780-10891789
4	POLR2A	chr20:10891719-10891852	ProgFib	skin:	n/a	n/a
5	CTCF	chr20:10891680-10891830	HPAF	blood vessel:	n/a	chr20:10891780-10891789
6	CTCF	chr20:10891740-10891890	HCFaa	heart:	n/a	chr20:10891780-10891789
7	CTCF	chr20:10891720-10891870	AoAF	blood vessel:	n/a	chr20:10891780-10891789
8	CTCF	chr20:10891660-10891810	HPAF	blood vessel:	n/a	chr20:10891780-10891789

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:10875958..10878542-chr20:10891783..10894734,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232900	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1120782	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17800010	1.00[CHB][hapmap]
rs1884135	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2223977	1.00[ASN][1000 genomes]
rs4813038	1.00[ASN][1000 genomes]
rs6040211	1.00[ASN][1000 genomes]
rs6040216	1.00[ASN][1000 genomes]
rs6074197	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6074221	1.00[CHB][hapmap]
rs62187873	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7268001	1.00[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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv912663	chr20:10891798-10963675	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:10886600-10899000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr20:10888400-10900000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:10890600-10891800	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr20:10891000-10891800	Enhancers	Lung	lung
5	chr20:10891000-10891800	Enhancers	Rectal Smooth Muscle	rectum
6	chr20:10891000-10892000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr20:10891000-10892400	Enhancers	Fetal Stomach	stomach
8	chr20:10891000-10892400	Enhancers	Stomach Mucosa	stomach
9	chr20:10891000-10892600	Enhancers	Fetal Muscle Leg	muscle
10	chr20:10891200-10891800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr20:10891200-10891800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr20:10891200-10891800	Flanking Active TSS	Ovary	ovary
13	chr20:10891200-10891800	Enhancers	Osteobl	bone
14	chr20:10891200-10892200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr20:10891200-10892400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr20:10891400-10891800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr20:10891400-10891800	Flanking Active TSS	Fetal Lung	lung
18	chr20:10891400-10891800	Flanking Active TSS	Psoas Muscle	Psoas
19	chr20:10891400-10891800	Flanking Active TSS	HUVEC	blood vessel
20	chr20:10891400-10892000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr20:10891400-10892000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr20:10891400-10903200	Weak transcription	Pancreas	Pancrea
23	chr20:10891600-10891800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr20:10891600-10892000	Enhancers	Adipose Nuclei	Adipose
25	chr20:10891600-10892000	Active TSS	Aorta	Aorta
26	chr20:10891600-10892800	Weak transcription	Left Ventricle	heart

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