Variant report

Variant	rs72785157
Chromosome Location	chr2:36584754-36584755
allele	C/T
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	chr2:36584592-36585606	HCT-116	colon:	n/a	n/a
2	POLR2A	chr2:36582472-36585107	GM19099	blood:	n/a	n/a
3	MAX	chr2:36582212-36585359	HepG2	liver:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
4	POLR2A	chr2:36582766-36585414	GM12892	blood:	n/a	n/a
5	SIN3AK20	chr2:36582338-36585437	MCF-7	breast:	n/a	n/a
6	SIN3AK20	chr2:36584199-36585202	H1-hESC	embryonic stem cell:	n/a	n/a
7	PAX5	chr2:36584550-36584875	GM12878	blood:	n/a	chr2:36584770-36584789
8	MAX	chr2:36584346-36585073	ECC-1	luminal epithelium:	n/a	n/a
9	CTCF	chr2:36584700-36584850	GM12874	blood:	n/a	n/a
10	TEAD4	chr2:36584117-36585471	HepG2	liver:	n/a	n/a
11	CTCF	chr2:36584678-36585411	HepG2	liver:	n/a	n/a
12	REST	chr2:36583996-36585189	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr2:36581529-36586771	HUVEC	blood vessel:	n/a	n/a
14	ZNF263	chr2:36581792-36585657	HEK293-T-REx	kidney:	n/a	chr2:36582682-36582691 chr2:36583058-36583067 chr2:36584305-36584314 chr2:36583408-36583417 chr2:36582841-36582850 chr2:36582722-36582731 chr2:36583047-36583068
15	RAD21	chr2:36584726-36585326	HepG2	liver:	n/a	n/a
16	POLR2A	chr2:36581491-36585794	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:36581666-36586427	IMR90	lung:	n/a	n/a
18	RAD21	chr2:36584291-36585457	A549	lung:	n/a	n/a
19	RAD21	chr2:36584719-36585383	SK-N-SH_RA	brain:	n/a	n/a
20	SMARCB1	chr2:36582328-36585091	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr2:36584497-36585064	A549	lung:	n/a	n/a
22	RAD21	chr2:36584675-36585424	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:36584145-36585589	A549	lung:	n/a	n/a
24	CREB1	chr2:36584485-36585127	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr2:36584449-36585030	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAZ	chr2:36584336-36585239	GM12878	blood:	n/a	n/a
27	CREB1	chr2:36581986-36585508	HepG2	liver:	n/a	n/a
28	MAX	chr2:36584134-36585873	SK-N-SH	brain:	n/a	n/a
29	SP1	chr2:36584068-36585966	A549	lung:	n/a	chr2:36584299-36584313 chr2:36584432-36584441 chr2:36584432-36584442 chr2:36584431-36584443
30	POLR2A	chr2:36584461-36585329	U87	brain:	n/a	n/a
31	GATA3	chr2:36584010-36588022	SK-N-SH	brain:	n/a	chr2:36587489-36587501 chr2:36587491-36587499 chr2:36584490-36584497 chr2:36585752-36585763 chr2:36587490-36587500
32	MAX	chr2:36584668-36585099	H1-hESC	embryonic stem cell:	n/a	n/a
33	RUNX3	chr2:36584105-36584981	GM12878	blood:	n/a	n/a
34	PAX5	chr2:36584492-36584994	GM12891	blood:	n/a	chr2:36584770-36584789
35	CTCF	chr2:36584700-36584850	GM12872	blood:	n/a	n/a
36	USF1	chr2:36584690-36585400	A549	lung:	n/a	n/a
37	NFIC	chr2:36583820-36584895	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:36584218-36585424	Hela-S3	cervix:	n/a	n/a
39	NFIC	chr2:36584237-36584958	GM12878	blood:	n/a	n/a
40	MAZ	chr2:36582258-36585263	HepG2	liver:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
41	CEBPB	chr2:36584469-36585871	Hela-S3	cervix:	n/a	n/a
42	TBP	chr2:36584225-36585983	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr2:36584157-36586516	PANC-1	pancreas:	n/a	n/a
44	REST	chr2:36583957-36585660	A549	lung:	n/a	n/a
45	PAX5	chr2:36584616-36584905	GM12878	blood:	n/a	chr2:36584770-36584789
46	BCL3	chr2:36584056-36585850	A549	lung:	n/a	n/a
47	POLR2A	chr2:36584530-36585392	U87	brain:	n/a	n/a
48	SIN3A	chr2:36581674-36585662	H1-hESC	embryonic stem cell:	n/a	chr2:36583069-36583082 chr2:36582118-36582126
49	MXI1	chr2:36584047-36585851	Hela-S3	cervix:	n/a	n/a
50	MAFK	chr2:36584676-36585954	Hela-S3	cervix:	n/a	chr2:36585899-36585914

No.	Distal block	Cell Line	Cell type
1	chr11:75052700..75053203-chr2:36584480..36585374,2	MCF-7	breast:
2	chr2:36582902..36585503-chr2:36823410..36825462,3	MCF-7	breast:
3	chr2:36582124..36584781-chr2:36595194..36598033,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260025	TF binding region
ENSG00000171055	Chromatin interaction
ENSG00000150938	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10184083	0.84[ASN][1000 genomes]
rs10184188	0.83[ASN][1000 genomes]
rs12712499	0.90[ASN][1000 genomes]
rs3770949	0.89[ASN][1000 genomes]
rs3770962	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3821166	0.87[ASN][1000 genomes]
rs67501694	0.87[ASN][1000 genomes]
rs72785151	0.89[ASN][1000 genomes]
rs72785173	0.84[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	esv2757792	chr2:36243452-36590658	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2759040	chr2:36243452-36590658	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3447532	chr2:36581748-36584896	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3441143	chr2:36581973-36584821	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36581200-36586400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:36581400-36585800	Active TSS	Fetal Brain Female	brain
3	chr2:36581400-36586400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:36581600-36585000	Active TSS	Rectal Smooth Muscle	rectum
5	chr2:36581600-36585400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:36581800-36585400	Active TSS	Fetal Intestine Large	intestine
7	chr2:36581800-36585400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr2:36581800-36585600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:36581800-36585600	Active TSS	Fetal Stomach	stomach
10	chr2:36581800-36587000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:36581800-36587000	Active TSS	Aorta	Aorta
12	chr2:36582000-36585000	Active TSS	Brain Substantia Nigra	brain
13	chr2:36582000-36585200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:36582000-36585200	Active TSS	Esophagus	oesophagus
15	chr2:36582000-36585200	Active TSS	Fetal Kidney	kidney
16	chr2:36582000-36585400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr2:36582000-36585400	Active TSS	Brain Cingulate Gyrus	brain
18	chr2:36582000-36585600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:36582000-36585600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr2:36582000-36585600	Active TSS	NH-A	brain
21	chr2:36582000-36585800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr2:36582000-36585800	Active TSS	Lung	lung
23	chr2:36582000-36586000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:36582000-36586000	Active TSS	HSMM	muscle
25	chr2:36582000-36586200	Active TSS	Psoas Muscle	Psoas
26	chr2:36582000-36586400	Active TSS	Right Atrium	heart
27	chr2:36582000-36586400	Active TSS	NHDF-Ad	bronchial
28	chr2:36582000-36586400	Active TSS	NHEK	skin
29	chr2:36582000-36586600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:36582000-36587000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr2:36582200-36585000	Active TSS	Brain Anterior Caudate	brain
32	chr2:36582200-36585000	Active TSS	Brain Hippocampus Middle	brain
33	chr2:36582200-36585000	Active TSS	Gastric	stomach
34	chr2:36582200-36585000	Active TSS	Spleen	Spleen
35	chr2:36582200-36585200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:36582200-36585200	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr2:36582200-36585200	Active TSS	Small Intestine	intestine
38	chr2:36582200-36585400	Active TSS	H1 Cell Line	embryonic stem cell
39	chr2:36582200-36585400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:36582200-36585400	Active TSS	Brain Angular Gyrus	brain
41	chr2:36582200-36585600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:36582200-36585600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:36582200-36585600	Active TSS	Colon Smooth Muscle	Colon
44	chr2:36582200-36585600	Active TSS	Left Ventricle	heart
45	chr2:36582200-36585600	Bivalent/Poised TSS	HepG2	liver
46	chr2:36582200-36585800	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr2:36582200-36585800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:36582200-36586000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:36582200-36586000	Active TSS	Placenta	Placenta
50	chr2:36582200-36586000	Active TSS	Skeletal Muscle Male	skeletal muscle

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