Variant report

Variant	rs3745
Chromosome Location	chr3:150320593-150320594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:102)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:102 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr3:150320394-150321340	K562	blood:	n/a	n/a
2	UBTF	chr3:150320286-150322169	K562	blood:	n/a	n/a
3	TCF7L2	chr3:150320307-150321767	Hela-S3	cervix:	n/a	chr3:150320682-150320691 chr3:150320679-150320695 chr3:150320680-150320694 chr3:150320679-150320695
4	CHD1	chr3:150320518-150322165	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr3:150320515-150321822	GM12878	blood:	n/a	n/a
6	REST	chr3:150320378-150322202	H1-neurons	neurons:	n/a	n/a
7	REST	chr3:150320461-150321701	A549	lung:	n/a	n/a
8	POLR2A	chr3:150320150-150321382	K562	blood:	n/a	n/a
9	POLR2A	chr3:150319948-150321897	SK-N-MC	brain:	n/a	n/a
10	FOSL2	chr3:150320469-150321866	A549	lung:	n/a	n/a
11	POLR2A	chr3:150320524-150321821	HUVEC	blood vessel:	n/a	n/a
12	BCLAF1	chr3:150320477-150321968	GM12878	blood:	n/a	chr3:150321316-150321325
13	POLR2A	chr3:150320035-150322139	GM12878	blood:	n/a	n/a
14	IRF1	chr3:150320579-150321901	K562	blood:	n/a	chr3:150321337-150321346
15	SP1	chr3:150320585-150321618	A549	lung:	n/a	chr3:150321037-150321046 chr3:150321035-150321047
16	MTA3	chr3:150320373-150321803	GM12878	blood:	n/a	n/a
17	MTA3	chr3:150320037-150322068	GM12878	blood:	n/a	n/a
18	POLR2A	chr3:150320326-150321376	K562	blood:	n/a	n/a
19	POLR2A	chr3:150320588-150321630	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr3:150320066-150321349	K562	blood:	n/a	n/a
21	MAFK	chr3:150320560-150321211	K562	blood:	n/a	n/a
22	POLR2A	chr3:150320382-150321420	K562	blood:	n/a	n/a
23	MYC	chr3:150320542-150322008	NB4	blood:	n/a	chr3:150321304-150321314
24	E2F6	chr3:150320574-150321606	A549	lung:	n/a	chr3:150321018-150321027 chr3:150321061-150321070
25	CEBPB	chr3:150320578-150321133	K562	blood:	n/a	n/a
26	PML	chr3:150320445-150321449	K562	blood:	n/a	n/a
27	TCF12	chr3:150320495-150321911	A549	lung:	n/a	n/a
28	POLR2A	chr3:150320550-150322038	GM12878	blood:	n/a	n/a
29	PML	chr3:150320564-150321724	MCF-7	breast:	n/a	n/a
30	POLR2A	chr3:150320584-150321570	SK-N-SH	brain:	n/a	n/a
31	MAX	chr3:150320579-150322161	A549	lung:	n/a	chr3:150321304-150321314
32	POLR2A	chr3:150320314-150322056	GM19099	blood:	n/a	n/a
33	POLR2A	chr3:150320550-150321872	GM12892	blood:	n/a	n/a
34	POLR2A	chr3:150320578-150321501	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr3:150320590-150321930	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr3:150320444-150322280	GM12878	blood:	n/a	n/a
37	POLR2A	chr3:150320222-150321900	GM18951	blood:	n/a	n/a
38	TEAD4	chr3:150320586-150321503	K562	blood:	n/a	n/a
39	POLR2A	chr3:150320065-150321739	K562	blood:	n/a	n/a
40	POLR2A	chr3:150320062-150322002	GM19193	blood:	n/a	n/a
41	SIN3AK20	chr3:150320573-150322371	MCF-7	breast:	n/a	n/a
42	POLR2A	chr3:150320481-150322006	U87	brain:	n/a	n/a
43	POLR2A	chr3:150320544-150321463	PANC-1	pancreas:	n/a	n/a
44	SIN3AK20	chr3:150320502-150322173	MCF-7	breast:	n/a	n/a
45	MYBL2	chr3:150320566-150321688	HepG2	liver:	n/a	n/a
46	POLR2A	chr3:150320546-150321835	HL-60	blood:	n/a	n/a
47	POLR2A	chr3:150320492-150321508	HepG2	liver:	n/a	n/a
48	POLR2A	chr3:150320524-150321961	U87	brain:	n/a	n/a
49	YY1	chr3:150320543-150321947	H1-hESC	embryonic stem cell:	n/a	chr3:150321035-150321046 chr3:150321363-150321382
50	NFATC1	chr3:150320561-150321200	GM12878	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150319835..150321538-chr3:150397842..150400790,2	MCF-7	breast:
2	chr3:150260773..150268334-chr3:150317152..150324883,17	K562	blood:
3	chr3:150262222..150264859-chr3:150319269..150321349,2	K562	blood:
4	chr3:150318641..150323079-chr3:150479217..150482794,6	MCF-7	breast:
5	chr3:150270043..150272034-chr3:150320453..150322799,2	MCF-7	breast:
6	chr3:150319300..150322608-chr3:150420316..150423261,6	MCF-7	breast:
7	chr3:150320056..150325236-chr3:150328045..150333634,6	MCF-7	breast:
8	chr1:113498549..113499138-chr3:150320502..150321114,2	Hela-S3	cervix:
9	chr3:149955587..149957333-chr3:150319703..150322205,2	MCF-7	breast:
10	chr14:91526552..91527173-chr3:150320471..150321119,2	NB4	blood:
11	chr3:150319130..150324790-chr3:150327939..150333389,12	K562	blood:
12	chr3:150319354..150323687-chr3:150477863..150484487,11	MCF-7	breast:
13	chr3:150259884..150269236-chr3:150319275..150325391,10	MCF-7	breast:
14	chr3:150318777..150323048-chr3:150479715..150482584,4	K562	blood:
15	chr3:150320068..150322587-chr3:150419780..150423653,7	MCF-7	breast:
16	chr3:150262524..150267011-chr3:150319982..150323189,4	MCF-7	breast:
17	chr3:150320449..150320999-chr7:73587998..73588629,2	NB4	blood:
18	chr3:150298264..150303206-chr3:150320117..150322472,5	MCF-7	breast:
19	chr3:150319883..150326696-chr3:150327224..150333205,16	MCF-7	breast:
20	chr3:150319550..150322084-chr3:150479715..150481431,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198843	TF binding region
ENSG00000226419	Chromatin interaction
ENSG00000163645	Chromatin interaction
ENSG00000133943	Chromatin interaction
ENSG00000244541	Chromatin interaction
ENSG00000155380	Chromatin interaction
ENSG00000100784	Chromatin interaction
ENSG00000181788	Chromatin interaction
ENSG00000244265	Chromatin interaction
ENSG00000271711	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000106682	Chromatin interaction
ENSG00000240137	Chromatin interaction
ENSG00000144895	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4681208	0.90[EUR][1000 genomes]
rs4681636	0.88[EUR][1000 genomes]
rs62269086	0.84[EUR][1000 genomes]
rs62269087	0.83[EUR][1000 genomes]
rs62269100	0.88[EUR][1000 genomes]
rs62269102	0.90[EUR][1000 genomes]
rs62283992	0.90[EUR][1000 genomes]
rs62283993	0.90[EUR][1000 genomes]
rs62283994	0.90[EUR][1000 genomes]
rs62284023	0.90[EUR][1000 genomes]
rs62284024	0.90[EUR][1000 genomes]
rs67548051	0.88[EUR][1000 genomes]
rs6794400	0.90[EUR][1000 genomes]
rs6802114	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73169829	0.88[EUR][1000 genomes]
rs73169833	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 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	chr3:150265600-150320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:150265600-150320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:150303800-150320800	Weak transcription	Lung	lung
4	chr3:150303800-150320800	Weak transcription	Spleen	Spleen
5	chr3:150304000-150320600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:150304400-150320600	Weak transcription	Ovary	ovary
7	chr3:150318600-150323600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr3:150318600-150323600	Active TSS	K562	blood
9	chr3:150318800-150322400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr3:150318800-150322400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr3:150318800-150323600	Active TSS	GM12878-XiMat	blood
12	chr3:150319000-150321200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:150319200-150320600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:150319200-150320600	Weak transcription	Esophagus	oesophagus
15	chr3:150319200-150322800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:150319400-150323200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:150320000-150320600	Active TSS	Duodenum Mucosa	Duodenum
18	chr3:150320000-150320600	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr3:150320000-150321000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr3:150320000-150321000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:150320000-150321000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:150320000-150321400	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr3:150320000-150322000	Active TSS	Brain Anterior Caudate	brain
24	chr3:150320000-150322000	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr3:150320000-150322200	Active TSS	Fetal Intestine Small	intestine
26	chr3:150320000-150322200	Active TSS	Left Ventricle	heart
27	chr3:150320000-150322200	Active TSS	Pancreas	Pancrea
28	chr3:150320000-150322200	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr3:150320000-150322400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:150320000-150322400	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr3:150320000-150322400	Active TSS	Brain Angular Gyrus	brain
32	chr3:150320000-150322400	Active TSS	Fetal Brain Female	brain
33	chr3:150320000-150322400	Active TSS	Fetal Stomach	stomach
34	chr3:150320000-150322400	Active TSS	Psoas Muscle	Psoas
35	chr3:150320000-150322600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:150320000-150322600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:150320000-150322600	Active TSS	Stomach Smooth Muscle	stomach
38	chr3:150320000-150322600	Active TSS	NHEK	skin
39	chr3:150320000-150322800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr3:150320000-150322800	Active TSS	Hela-S3	cervix
41	chr3:150320000-150323000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:150320000-150323000	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr3:150320000-150323000	Active TSS	NHLF	lung
44	chr3:150320000-150323200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:150320000-150323600	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr3:150320000-150323800	Active TSS	A549	lung
47	chr3:150320000-150324000	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr3:150320200-150320600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:150320200-150320600	Flanking Active TSS	Liver	Liver
50	chr3:150320200-150320600	Flanking Active TSS	Brain Germinal Matrix	brain

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