Variant report

Variant	rs72782367
Chromosome Location	chr2:20793068-20793069
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	FOXA2	chr2:20792791-20793684	HepG2	liver:	n/a	n/a
2	MAZ	chr2:20792978-20793613	K562	blood:	n/a	chr2:20793411-20793420
3	FOS	chr2:20792857-20793591	MCF10A-Er-Src	breast:	n/a	chr2:20793410-20793421 chr2:20793411-20793421 chr2:20793412-20793421 chr2:20793410-20793422
4	EGR1	chr2:20793056-20793644	K562	blood:	n/a	chr2:20793329-20793342
5	NR3C1	chr2:20792744-20793555	A549	lung:	n/a	chr2:20793274-20793300 chr2:20793274-20793300 chr2:20793274-20793300 chr2:20793280-20793294 chr2:20793274-20793300 chr2:20793278-20793295
6	POLR2A	chr2:20792857-20793666	HepG2	liver:	n/a	n/a
7	ELF1	chr2:20792728-20793633	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:20792973-20793560	HepG2	liver:	n/a	n/a
9	CBX3	chr2:20792844-20793680	K562	blood:	n/a	n/a
10	NR2F2	chr2:20792955-20793650	K562	blood:	n/a	chr2:20793427-20793442
11	EP300	chr2:20792392-20793681	HepG2	liver:	n/a	chr2:20793389-20793402
12	CEBPB	chr2:20792788-20793640	HepG2	liver:	n/a	n/a
13	FOSL2	chr2:20792848-20793737	MCF-7	breast:	n/a	chr2:20793411-20793421 chr2:20793412-20793421 chr2:20793410-20793422
14	NR2F2	chr2:20792896-20793779	MCF-7	breast:	n/a	chr2:20793427-20793442
15	JUND	chr2:20792856-20793592	HepG2	liver:	n/a	chr2:20793411-20793421 chr2:20793412-20793421 chr2:20793410-20793421 chr2:20793410-20793422
16	MAX	chr2:20792845-20793756	A549	lung:	n/a	chr2:20793411-20793420
17	FOXA1	chr2:20792833-20793733	HepG2	liver:	n/a	n/a
18	TCF7L2	chr2:20792999-20793750	HepG2	liver:	n/a	chr2:20793412-20793421
19	NFIC	chr2:20792094-20793837	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:20791687-20794320	HepG2	liver:	n/a	n/a
21	SP1	chr2:20792935-20793847	A549	lung:	n/a	n/a
22	MAX	chr2:20792640-20793922	A549	lung:	n/a	chr2:20793411-20793420
23	STAT3	chr2:20792883-20793153	MCF10A-Er-Src	breast:	n/a	chr2:20793006-20793017
24	MYC	chr2:20792850-20793513	MCF10A-Er-Src	breast:	n/a	chr2:20793411-20793420
25	MXI1	chr2:20792316-20793801	HepG2	liver:	n/a	n/a
26	USF2	chr2:20792877-20793216	HepG2	liver:	n/a	n/a
27	BHLHE40	chr2:20792294-20793718	HepG2	liver:	n/a	n/a
28	MYC	chr2:20792850-20793550	MCF10A-Er-Src	breast:	n/a	chr2:20793411-20793420
29	ARID3A	chr2:20792593-20793685	HepG2	liver:	n/a	n/a
30	MAZ	chr2:20792685-20793948	IMR90	lung:	n/a	chr2:20793411-20793420
31	MAFK	chr2:20792998-20793586	IMR90	lung:	n/a	n/a
32	RXRA	chr2:20792773-20793734	HepG2	liver:	n/a	chr2:20793575-20793594
33	EP300	chr2:20792995-20793756	A549	lung:	n/a	chr2:20793389-20793402
34	MAFK	chr2:20793000-20793631	HepG2	liver:	n/a	n/a
35	MAZ	chr2:20792854-20793719	HepG2	liver:	n/a	chr2:20793411-20793420
36	RAD21	chr2:20792808-20793748	HepG2	liver:	n/a	n/a
37	TCF12	chr2:20792822-20793846	A549	lung:	n/a	chr2:20793540-20793550 chr2:20793531-20793541
38	HNF4A	chr2:20792871-20793683	HepG2	liver:	n/a	chr2:20793242-20793255 chr2:20793424-20793436 chr2:20793427-20793439 chr2:20793240-20793255 chr2:20793242-20793255
39	YY1	chr2:20792848-20793744	HepG2	liver:	n/a	n/a
40	MAX	chr2:20792913-20793561	NB4	blood:	n/a	chr2:20793411-20793420
41	RAD21	chr2:20792996-20793728	HepG2	liver:	n/a	n/a
42	FOXA2	chr2:20793043-20793661	A549	lung:	n/a	n/a
43	SMC3	chr2:20792334-20793944	HepG2	liver:	n/a	chr2:20793534-20793548 chr2:20793540-20793548
44	ZBTB7A	chr2:20792700-20793676	HepG2	liver:	n/a	n/a
45	RCOR1	chr2:20792269-20793785	HepG2	liver:	n/a	n/a
46	NR3C1	chr2:20792654-20793769	A549	lung:	n/a	chr2:20793274-20793300 chr2:20793274-20793300 chr2:20793274-20793300 chr2:20793280-20793294 chr2:20793274-20793300 chr2:20793278-20793295
47	JUN	chr2:20793004-20793598	K562	blood:	n/a	chr2:20793411-20793421 chr2:20793412-20793421 chr2:20793410-20793422
48	RAD21	chr2:20792793-20793762	HepG2	liver:	n/a	n/a
49	RFX5	chr2:20792905-20793870	HepG2	liver:	n/a	n/a
50	HDAC2	chr2:20792836-20793780	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20772318..20774948-chr2:20792924..20794926,2	K562	blood:
2	chr2:20644797..20655251-chr2:20787626..20802274,53	MCF-7	breast:
3	chr2:20686409..20689229-chr2:20793037..20794863,2	MCF-7	breast:
4	chr2:20694947..20697605-chr2:20792933..20794613,2	MCF-7	breast:
5	chr2:20785265..20787033-chr2:20792935..20794883,2	MCF-7	breast:
6	chr2:20783982..20787771-chr2:20790367..20794656,9	K562	blood:
7	chr2:20792169..20793794-chr2:20803902..20806488,2	K562	blood:
8	chr2:20784163..20786583-chr2:20792834..20795600,2	MCF-7	breast:
9	chr2:20792451..20795082-chr2:20807654..20810315,4	MCF-7	breast:
10	chr2:20644186..20651576-chr2:20790196..20799394,18	MCF-7	breast:

Variant related genes	Relation type
HS1BP3-IT1	TF binding region
ENSG00000233416	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000269976	Chromatin interaction
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10166792	0.86[ASN][1000 genomes]
rs10177787	0.86[ASN][1000 genomes]
rs10190705	0.83[ASN][1000 genomes]
rs10195324	0.82[ASN][1000 genomes]
rs10200207	0.82[ASN][1000 genomes]
rs11096677	0.86[ASN][1000 genomes]
rs1123781	0.88[ASN][1000 genomes]
rs11691255	0.83[ASN][1000 genomes]
rs13422371	0.83[ASN][1000 genomes]
rs16987857	0.91[ASN][1000 genomes]
rs16987878	0.99[ASN][1000 genomes]
rs16987880	0.99[ASN][1000 genomes]
rs16987884	0.95[ASN][1000 genomes]
rs2882035	0.86[ASN][1000 genomes]
rs2882036	0.91[ASN][1000 genomes]
rs4666315	0.86[ASN][1000 genomes]
rs4666429	0.86[ASN][1000 genomes]
rs55835545	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56129345	0.93[ASN][1000 genomes]
rs59169527	0.94[ASN][1000 genomes]
rs72782365	0.94[ASN][1000 genomes]
rs72782368	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs766474	0.91[ASN][1000 genomes]
rs921601	0.99[ASN][1000 genomes]
rs921602	0.81[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:82 , 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	chr2:20785800-20794600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:20785800-20795200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:20785800-20796000	Weak transcription	Aorta	Aorta
6	chr2:20786000-20794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:20786000-20795200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:20786200-20797600	Weak transcription	Psoas Muscle	Psoas
9	chr2:20786800-20793400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:20787200-20800200	Enhancers	Right Ventricle	heart
11	chr2:20787400-20794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:20788400-20794200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:20788400-20794200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:20789000-20794000	Enhancers	NHEK	skin
15	chr2:20789000-20798200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:20789200-20797000	Enhancers	Spleen	Spleen
17	chr2:20789200-20800400	Enhancers	Placenta	Placenta
18	chr2:20789400-20795400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:20790200-20797800	Enhancers	Fetal Intestine Large	intestine
20	chr2:20790400-20793600	Enhancers	Fetal Intestine Small	intestine
21	chr2:20790800-20801200	Enhancers	Adipose Nuclei	Adipose
22	chr2:20791000-20794200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:20791200-20793800	Weak transcription	Brain Angular Gyrus	brain
24	chr2:20791200-20794800	Weak transcription	Brain Anterior Caudate	brain
25	chr2:20791200-20794800	Weak transcription	Brain Substantia Nigra	brain
26	chr2:20791200-20795000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:20791200-20795200	Weak transcription	Esophagus	oesophagus
28	chr2:20791200-20795400	Weak transcription	Fetal Brain Male	brain
29	chr2:20791200-20795600	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:20791200-20796600	Weak transcription	Fetal Heart	heart
31	chr2:20791400-20793200	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:20791400-20796600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:20791800-20796400	Weak transcription	Pancreas	Pancrea
34	chr2:20791800-20797200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr2:20791800-20800400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:20792000-20794200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:20792000-20797800	Enhancers	HSMM	muscle
38	chr2:20792000-20798200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:20792200-20793200	Flanking Active TSS	Liver	Liver
40	chr2:20792200-20793600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:20792200-20794000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:20792200-20794400	Enhancers	HMEC	breast
43	chr2:20792200-20797800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:20792200-20797800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:20792200-20797800	Enhancers	NH-A	brain
46	chr2:20792200-20798200	Enhancers	Ovary	ovary
47	chr2:20792400-20793200	Flanking Active TSS	HepG2	liver
48	chr2:20792400-20794200	Enhancers	HSMMtube	muscle
49	chr2:20792400-20794600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:20792400-20794800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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