Variant report

Variant	rs17718518
Chromosome Location	chr2:20789243-20789244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:20788236-20791253	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:20788250-20789585	HepG2	liver:	n/a	n/a
3	HEY1	chr2:20788217-20791446	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:20788430-20789515	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:20788545-20789591	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:20788190-20791944	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20644797..20655251-chr2:20787626..20802274,53	MCF-7	breast:
2	chr2:20788464..20790757-chr2:20791500..20793980,2	MCF-7	breast:
3	chr2:20787740..20790180-chr2:20814969..20816900,2	K562	blood:
4	chr2:20778568..20780393-chr2:20788647..20790853,2	K562	blood:
5	chr2:20648553..20650880-chr2:20787969..20789979,2	MCF-7	breast:
6	chr2:20773082..20775032-chr2:20787909..20789864,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269976	TF binding region
ENSG00000228950	Chromatin interaction
ENSG00000231948	Chromatin interaction
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13384848	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412584	0.82[ASN][1000 genomes]
rs13424119	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431026	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17718362	0.92[EUR][1000 genomes]
rs4666428	1.00[ASN][1000 genomes]
rs56220253	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57203893	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57818033	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59199298	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60856046	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20784600-20794200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:20785000-20796000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:20785400-20789400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:20785600-20790200	Weak transcription	Fetal Intestine Large	intestine
5	chr2:20785800-20789800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:20785800-20790200	Weak transcription	Fetal Heart	heart
7	chr2:20785800-20790600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:20785800-20793000	Weak transcription	Gastric	stomach
9	chr2:20785800-20794600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:20785800-20795200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:20785800-20796000	Weak transcription	Aorta	Aorta
12	chr2:20786000-20789400	Weak transcription	Esophagus	oesophagus
13	chr2:20786000-20790400	Weak transcription	Liver	Liver
14	chr2:20786000-20790400	Weak transcription	Fetal Lung	lung
15	chr2:20786000-20790400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:20786000-20790600	Weak transcription	Brain Anterior Caudate	brain
17	chr2:20786000-20790800	Weak transcription	Pancreas	Pancrea
18	chr2:20786000-20792200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:20786000-20792800	Weak transcription	Colonic Mucosa	Colon
20	chr2:20786000-20793000	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:20786000-20794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:20786000-20795200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:20786200-20790200	Weak transcription	Ovary	ovary
24	chr2:20786200-20790400	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:20786200-20790400	Weak transcription	Fetal Intestine Small	intestine
26	chr2:20786200-20797600	Weak transcription	Psoas Muscle	Psoas
27	chr2:20786800-20793400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:20787200-20800200	Enhancers	Right Ventricle	heart
29	chr2:20787400-20789800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:20787400-20792800	Weak transcription	Fetal Kidney	kidney
31	chr2:20787400-20794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:20787800-20789800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:20787800-20790800	Weak transcription	Brain Substantia Nigra	brain
34	chr2:20788200-20792000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr2:20788400-20790800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:20788400-20791200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:20788400-20791400	Enhancers	Right Atrium	heart
38	chr2:20788400-20791800	Enhancers	Left Ventricle	heart
39	chr2:20788400-20794200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:20788400-20794200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:20788600-20790000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:20788600-20791600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:20788800-20789400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:20788800-20789400	Enhancers	Duodenum Mucosa	Duodenum
45	chr2:20788800-20789600	Enhancers	Stomach Smooth Muscle	stomach
46	chr2:20788800-20789800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:20788800-20790800	Transcr. at gene 5' and 3'	HepG2	liver
48	chr2:20788800-20790800	Enhancers	NH-A	brain
49	chr2:20788800-20791000	Enhancers	Lung	lung
50	chr2:20788800-20791400	Enhancers	Fetal Muscle Leg	muscle

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