Variant report

Variant	rs3770968
Chromosome Location	chr2:36585324-36585325
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	MAX	chr2:36582212-36585359	HepG2	liver:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
3	POLR2A	chr2:36582766-36585414	GM12892	blood:	n/a	n/a
4	SIN3AK20	chr2:36582338-36585437	MCF-7	breast:	n/a	n/a
5	CTCF	chr2:36584779-36585358	A549	lung:	n/a	n/a
6	TEAD4	chr2:36584117-36585471	HepG2	liver:	n/a	n/a
7	CTCF	chr2:36584678-36585411	HepG2	liver:	n/a	n/a
8	FOS	chr2:36585011-36585340	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr2:36581529-36586771	HUVEC	blood vessel:	n/a	n/a
10	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
11	RAD21	chr2:36584726-36585326	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:36581491-36585794	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:36581666-36586427	IMR90	lung:	n/a	n/a
14	RAD21	chr2:36584291-36585457	A549	lung:	n/a	n/a
15	RAD21	chr2:36584719-36585383	SK-N-SH_RA	brain:	n/a	n/a
16	RAD21	chr2:36584675-36585424	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:36584145-36585589	A549	lung:	n/a	n/a
18	CREB1	chr2:36581986-36585508	HepG2	liver:	n/a	n/a
19	MAX	chr2:36584134-36585873	SK-N-SH	brain:	n/a	n/a
20	SP1	chr2:36584068-36585966	A549	lung:	n/a	chr2:36584299-36584313 chr2:36584432-36584441 chr2:36584432-36584442 chr2:36584431-36584443
21	STAT3	chr2:36585066-36585693	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr2:36584461-36585329	U87	brain:	n/a	n/a
23	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
24	USF1	chr2:36584690-36585400	A549	lung:	n/a	n/a
25	POLR2A	chr2:36584218-36585424	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr2:36584469-36585871	Hela-S3	cervix:	n/a	n/a
27	TBP	chr2:36584225-36585983	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr2:36584157-36586516	PANC-1	pancreas:	n/a	n/a
29	REST	chr2:36583957-36585660	A549	lung:	n/a	n/a
30	BCL3	chr2:36584056-36585850	A549	lung:	n/a	n/a
31	POLR2A	chr2:36584530-36585392	U87	brain:	n/a	n/a
32	SIN3A	chr2:36581674-36585662	H1-hESC	embryonic stem cell:	n/a	chr2:36583069-36583082 chr2:36582118-36582126
33	MXI1	chr2:36584047-36585851	Hela-S3	cervix:	n/a	n/a
34	MAFK	chr2:36584676-36585954	Hela-S3	cervix:	n/a	chr2:36585899-36585914
35	MAZ	chr2:36581703-36585862	IMR90	lung:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
36	PBX3	chr2:36584626-36586021	SK-N-SH	brain:	n/a	n/a
37	CHD1	chr2:36581051-36590233	IMR90	lung:	n/a	chr2:36584898-36584908
38	FOSL2	chr2:36584168-36585401	A549	lung:	n/a	n/a
39	MXI1	chr2:36581371-36586962	IMR90	lung:	n/a	chr2:36583794-36583803
40	MAX	chr2:36581645-36586064	A549	lung:	n/a	chr2:36583787-36583797 chr2:36583171-36583181 chr2:36582816-36582825
41	CTCF	chr2:36585089-36585365	K562	blood:	n/a	n/a
42	POLR2A	chr2:36581876-36585852	ProgFib	skin:	n/a	n/a
43	RAD21	chr2:36584760-36585411	HepG2	liver:	n/a	n/a
44	MXI1	chr2:36582196-36585539	HepG2	liver:	n/a	chr2:36583794-36583803
45	POLR2A	chr2:36582408-36585941	HUVEC	blood vessel:	n/a	n/a
46	RELA	chr2:36584209-36585470	GM19099	blood:	n/a	n/a
47	SIN3AK20	chr2:36584570-36585769	PANC-1	pancreas:	n/a	n/a
48	SIN3AK20	chr2:36584134-36585913	A549	lung:	n/a	n/a
49	ARID3A	chr2:36584228-36585957	HepG2	liver:	n/a	n/a
50	STAT3	chr2:36585010-36585973	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:36198095..36199022-chr2:36584804..36585700,2	MCF-7	breast:
2	chr2:36585022..36585655-chr7:103237622..103238142,2	MCF-7	breast:
3	chr11:75052700..75053203-chr2:36584480..36585374,2	MCF-7	breast:
4	chr2:36582902..36585503-chr2:36823410..36825462,3	MCF-7	breast:
5	chr2:36585288..36588127-chr2:36593960..36595657,2	MCF-7	breast:

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

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12466450	1.00[JPT][hapmap]
rs17018711	1.00[JPT][hapmap]
rs3755219	0.81[CHD][hapmap]
rs3770933	1.00[JPT][hapmap]
rs3770934	1.00[JPT][hapmap]
rs3770951	0.84[CHB][hapmap]
rs3770957	0.89[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs6757374	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3770968	LTBP1	cis	cerebellum	SCAN

Chromatin state (count:118 , 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	chr2:36581600-36585400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:36581800-36585400	Active TSS	Fetal Intestine Large	intestine
6	chr2:36581800-36585400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr2:36581800-36585600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:36581800-36585600	Active TSS	Fetal Stomach	stomach
9	chr2:36581800-36587000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:36581800-36587000	Active TSS	Aorta	Aorta
11	chr2:36582000-36585400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr2:36582000-36585400	Active TSS	Brain Cingulate Gyrus	brain
13	chr2:36582000-36585600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:36582000-36585600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr2:36582000-36585600	Active TSS	NH-A	brain
16	chr2:36582000-36585800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr2:36582000-36585800	Active TSS	Lung	lung
18	chr2:36582000-36586000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:36582000-36586000	Active TSS	HSMM	muscle
20	chr2:36582000-36586200	Active TSS	Psoas Muscle	Psoas
21	chr2:36582000-36586400	Active TSS	Right Atrium	heart
22	chr2:36582000-36586400	Active TSS	NHDF-Ad	bronchial
23	chr2:36582000-36586400	Active TSS	NHEK	skin
24	chr2:36582000-36586600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:36582000-36587000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr2:36582200-36585400	Active TSS	H1 Cell Line	embryonic stem cell
27	chr2:36582200-36585400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:36582200-36585400	Active TSS	Brain Angular Gyrus	brain
29	chr2:36582200-36585600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:36582200-36585600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:36582200-36585600	Active TSS	Colon Smooth Muscle	Colon
32	chr2:36582200-36585600	Active TSS	Left Ventricle	heart
33	chr2:36582200-36585600	Bivalent/Poised TSS	HepG2	liver
34	chr2:36582200-36585800	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr2:36582200-36585800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:36582200-36586000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:36582200-36586000	Active TSS	Placenta	Placenta
38	chr2:36582200-36586000	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr2:36582200-36586000	Active TSS	HUVEC	blood vessel
40	chr2:36582200-36586000	Active TSS	Osteobl	bone
41	chr2:36582200-36586200	Active TSS	Ovary	ovary
42	chr2:36582200-36586400	Active TSS	Muscle Satellite Cultured Cells	--
43	chr2:36582200-36586400	Active TSS	HSMMtube	muscle
44	chr2:36582200-36586600	Active TSS	HMEC	breast
45	chr2:36582400-36585400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr2:36582400-36585400	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr2:36582400-36585400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
48	chr2:36582400-36585600	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr2:36582400-36585800	Active TSS	Hela-S3	cervix
50	chr2:36582600-36585600	Active TSS	Stomach Smooth Muscle	stomach

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