Variant report

Variant	rs72782368
Chromosome Location	chr2:20794483-20794484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr2:20791829-20794524	HepG2	liver:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20772318..20774948-chr2:20792924..20794926,2	K562	blood:
2	chr2:20793781..20795387-chr2:20795652..20798532,2	K562	blood:
3	chr2:20644797..20655251-chr2:20787626..20802274,53	MCF-7	breast:
4	chr2:20686409..20689229-chr2:20793037..20794863,2	MCF-7	breast:
5	chr2:20694947..20697605-chr2:20792933..20794613,2	MCF-7	breast:
6	chr2:20785265..20787033-chr2:20792935..20794883,2	MCF-7	breast:
7	chr2:20737451..20739209-chr2:20794150..20795767,2	K562	blood:
8	chr2:20783982..20787771-chr2:20790367..20794656,9	K562	blood:
9	chr2:20767266..20769028-chr2:20793726..20796533,2	K562	blood:
10	chr2:20784163..20786583-chr2:20792834..20795600,2	MCF-7	breast:
11	chr2:20790147..20792298-chr2:20794346..20796797,2	K562	blood:
12	chr2:20767266..20769707-chr2:20793726..20796533,3	K562	blood:
13	chr2:20689974..20693202-chr2:20793219..20795538,3	MCF-7	breast:
14	chr2:20792451..20795082-chr2:20807654..20810315,4	MCF-7	breast:
15	chr2:20644186..20651576-chr2:20790196..20799394,18	MCF-7	breast:

No data

Variant related genes	Relation type
HS1BP3-IT1	TF binding region
ENSG00000143878	Chromatin interaction
ENSG00000269976	Chromatin interaction
ENSG00000228950	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10166792	0.88[ASN][1000 genomes]
rs10177787	0.88[ASN][1000 genomes]
rs10190705	0.84[ASN][1000 genomes]
rs10195324	0.83[ASN][1000 genomes]
rs10200207	0.83[ASN][1000 genomes]
rs11096677	0.88[ASN][1000 genomes]
rs1123781	0.89[ASN][1000 genomes]
rs11691255	0.84[ASN][1000 genomes]
rs12621527	0.80[ASN][1000 genomes]
rs13422371	0.84[ASN][1000 genomes]
rs16987857	0.92[ASN][1000 genomes]
rs16987878	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16987880	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987884	0.96[ASN][1000 genomes]
rs2882035	0.88[ASN][1000 genomes]
rs2882036	0.92[ASN][1000 genomes]
rs4666315	0.88[ASN][1000 genomes]
rs4666429	0.88[ASN][1000 genomes]
rs55835545	1.00[ASN][1000 genomes]
rs56129345	0.94[ASN][1000 genomes]
rs59169527	0.95[ASN][1000 genomes]
rs72782365	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72782367	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs766474	0.92[ASN][1000 genomes]
rs921601	1.00[ASN][1000 genomes]
rs921602	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv581167	chr2:20791125-20827846	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20785000-20796000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:20785800-20794600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:20785800-20795200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:20785800-20796000	Weak transcription	Aorta	Aorta
5	chr2:20786000-20795200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:20786200-20797600	Weak transcription	Psoas Muscle	Psoas
7	chr2:20787200-20800200	Enhancers	Right Ventricle	heart
8	chr2:20787400-20794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:20789000-20798200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:20789200-20797000	Enhancers	Spleen	Spleen
11	chr2:20789200-20800400	Enhancers	Placenta	Placenta
12	chr2:20789400-20795400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:20790200-20797800	Enhancers	Fetal Intestine Large	intestine
14	chr2:20790800-20801200	Enhancers	Adipose Nuclei	Adipose
15	chr2:20791200-20794800	Weak transcription	Brain Anterior Caudate	brain
16	chr2:20791200-20794800	Weak transcription	Brain Substantia Nigra	brain
17	chr2:20791200-20795000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:20791200-20795200	Weak transcription	Esophagus	oesophagus
19	chr2:20791200-20795400	Weak transcription	Fetal Brain Male	brain
20	chr2:20791200-20795600	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:20791200-20796600	Weak transcription	Fetal Heart	heart
22	chr2:20791400-20796600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:20791800-20796400	Weak transcription	Pancreas	Pancrea
24	chr2:20791800-20797200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:20791800-20800400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:20792000-20797800	Enhancers	HSMM	muscle
27	chr2:20792000-20798200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:20792200-20797800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:20792200-20797800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:20792200-20797800	Enhancers	NH-A	brain
31	chr2:20792200-20798200	Enhancers	Ovary	ovary
32	chr2:20792400-20794600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:20792400-20794800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:20792400-20797600	Enhancers	A549	lung
35	chr2:20792400-20797800	Enhancers	Lung	lung
36	chr2:20792400-20797800	Enhancers	NHLF	lung
37	chr2:20792400-20798400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:20792400-20800200	Enhancers	Right Atrium	heart
39	chr2:20792600-20794800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:20792600-20797200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr2:20792600-20797800	Enhancers	NHDF-Ad	bronchial
42	chr2:20792800-20797200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:20792800-20798200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:20792800-20801800	Enhancers	HUVEC	blood vessel
45	chr2:20793000-20795200	Weak transcription	Colonic Mucosa	Colon
46	chr2:20793000-20795400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:20793000-20797800	Enhancers	Brain Hippocampus Middle	brain
48	chr2:20793000-20799000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr2:20793000-20800400	Enhancers	Left Ventricle	heart
50	chr2:20793000-20801200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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