Variant report

Variant	nsv521244
Chromosome Location	chr3:155465491-155467069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:155466486-155467223	HepG2	liver:	n/a	n/a
2	BHLHE40	chr3:155466806-155467255	HepG2	liver:	n/a	n/a
3	CHD2	chr3:155466911-155467208	HepG2	liver:	n/a	n/a
4	CUX1	chr3:155466734-155466918	K562	blood:	n/a	n/a
5	EP300	chr3:155466754-155467178	HepG2	liver:	n/a	n/a
6	FOS	chr3:155466863-155466880	MCF10A-Er-Src	breast:	n/a	n/a
7	FOSL2	chr3:155466259-155467123	A549	lung:	n/a	n/a
8	FOSL2	chr3:155466743-155467080	HepG2	liver:	n/a	n/a
9	FOXA1	chr3:155466712-155467296	HepG2	liver:	n/a	n/a
10	FOXA1	chr3:155466808-155467304	HepG2	liver:	n/a	n/a
11	FOXA2	chr3:155466783-155467254	HepG2	liver:	n/a	n/a
12	HNF4G	chr3:155466739-155467165	HepG2	liver:	n/a	chr3:155466941-155466956
13	JUN	chr3:155466612-155467019	HepG2	liver:	n/a	n/a
14	JUND	chr3:155466571-155467052	HepG2	liver:	n/a	n/a
15	KAP1	chr3:155465273-155466975	U2OS	brain:	n/a	n/a
16	KAP1	chr3:155465596-155467159	HEK293	kidney:	n/a	n/a
17	MAFF	chr3:155466792-155467123	HepG2	liver:	n/a	n/a
18	MAFK	chr3:155466528-155467111	HepG2	liver:	n/a	n/a
19	MAFK	chr3:155465886-155466167	HepG2	liver:	n/a	n/a
20	MAFK	chr3:155466763-155467088	HepG2	liver:	n/a	n/a
21	MAX	chr3:155466555-155466759	A549	lung:	n/a	n/a
22	MAZ	chr3:155466459-155466859	HepG2	liver:	n/a	n/a
23	NFIC	chr3:155466694-155467244	HepG2	liver:	n/a	n/a
24	NR2F2	chr3:155466542-155467324	MCF-7	breast:	n/a	n/a
25	POLR2A	chr3:155465628-155466090	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr3:155466637-155467133	HepG2	liver:	n/a	n/a
27	POLR2A	chr3:155465681-155466137	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr3:155466653-155466911	HepG2	liver:	n/a	n/a
29	RAD21	chr3:155466801-155467109	HepG2	liver:	n/a	n/a
30	RXRA	chr3:155466786-155467155	HepG2	liver:	n/a	n/a
31	SMC3	chr3:155466775-155467074	HepG2	liver:	n/a	n/a
32	SP1	chr3:155466626-155467154	A549	lung:	n/a	chr3:155467033-155467042
33	SP1	chr3:155466743-155467182	HepG2	liver:	n/a	chr3:155467033-155467042
34	TBP	chr3:155466771-155467082	HepG2	liver:	n/a	n/a
35	TEAD4	chr3:155466612-155467209	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:155461486..155465793-chr3:155586998..155592801,6	K562	blood:
2	chr3:155460020..155464783-chr3:155465201..155469112,6	K562	blood:
3	chr3:155461411..155464910-chr3:155465071..155468362,4	MCF-7	breast:
4	chr3:155466610..155468263-chr3:155468525..155471754,3	MCF-7	breast:
5	chr3:155465236..155465956-chr9:98268514..98269039,2	NB4	blood:
6	chr3:155461079..155463376-chr3:155465033..155467779,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214919	TF binding region
PLCH1	TF binding region
ENSG00000271155	chromatin interactions
ENSG00000214919	chromatin interactions
ENSG00000114805	chromatin interactions
ENSG00000185920	chromatin interactions
ENSG00000163655	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs358742	chr3:155465491-155465492	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557887633	chr3:155465519-155465520	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs566614964	chr3:155465530-155465531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs149332923	chr3:155465541-155465542	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs186552828	chr3:155465542-155465543	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs146276979	chr3:155465560-155465561	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs530602377	chr3:155465610-155465611	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs544594757	chr3:155465684-155465685	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs556776898	chr3:155465716-155465717	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs577617986	chr3:155465732-155465733	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs548783651	chr3:155465753-155465754	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs35275780	chr3:155465797-155465798	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs191185436	chr3:155465819-155465820	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs560104916	chr3:155465849-155465850	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs138099521	chr3:155465860-155465861	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs536134188	chr3:155465864-155465865	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs545325187	chr3:155465880-155465881	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs358741	chr3:155465932-155465933	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs561754567	chr3:155465947-155465948	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs529049291	chr3:155465952-155465953	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs550608639	chr3:155465992-155465993	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs142352079	chr3:155466025-155466026	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs145925924	chr3:155466027-155466028	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs62284705	chr3:155466042-155466043	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566456771	chr3:155466072-155466073	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs76744671	chr3:155466081-155466082	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs74540837	chr3:155466112-155466113	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs539661318	chr3:155466175-155466176	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs567774128	chr3:155466177-155466178	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs538390931	chr3:155466191-155466192	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs556477901	chr3:155466196-155466197	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs577959696	chr3:155466250-155466251	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs545281182	chr3:155466293-155466294	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs558300870	chr3:155466294-155466295	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs148651108	chr3:155466416-155466417	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs572079587	chr3:155466419-155466420	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs542767522	chr3:155466443-155466444	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs376497057	chr3:155466444-155466445	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs376783128	chr3:155466497-155466498	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs34002852	chr3:155466519-155466520	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs544439681	chr3:155466529-155466530	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs570127364	chr3:155466537-155466538	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs537583791	chr3:155466547-155466548	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs73017138	chr3:155466549-155466550	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574126059	chr3:155466552-155466553	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs77653136	chr3:155466580-155466581	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs547936863	chr3:155466584-155466585	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs358740	chr3:155466616-155466617	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs36109118	chr3:155466625-155466626	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs539699826	chr3:155466648-155466649	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155462800-155466600	Weak transcription	Hela-S3	cervix
2	chr3:155463200-155466200	Weak transcription	K562	blood
3	chr3:155463200-155466600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:155463200-155467400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:155463400-155465800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:155463800-155475200	Weak transcription	Left Ventricle	heart
7	chr3:155463800-155487800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:155463800-155501200	Weak transcription	Aorta	Aorta
9	chr3:155464000-155466200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:155464000-155466200	Enhancers	A549	lung
11	chr3:155464000-155476600	Weak transcription	Ovary	ovary
12	chr3:155464200-155465600	Weak transcription	Brain Germinal Matrix	brain
13	chr3:155464200-155465600	Weak transcription	Fetal Brain Female	brain
14	chr3:155464200-155465800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:155464200-155466000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr3:155464200-155466200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:155464200-155466600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:155464200-155469800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:155464200-155474800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:155464200-155487600	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:155464200-155487600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr3:155464200-155487800	Weak transcription	Adipose Nuclei	Adipose
23	chr3:155464200-155487800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr3:155464200-155487800	Weak transcription	Pancreas	Pancrea
25	chr3:155464200-155489600	Weak transcription	Brain Anterior Caudate	brain
26	chr3:155464200-155490600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:155464400-155465600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:155464400-155466400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:155464400-155466400	Enhancers	HepG2	liver
30	chr3:155464400-155467200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:155464400-155467400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:155464400-155467400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:155464600-155467200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr3:155464600-155467400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:155464600-155467400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr3:155464600-155487800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:155465000-155465600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:155465000-155467400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:155465000-155468200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr3:155465200-155466000	Bivalent Enhancer	Fetal Kidney	kidney
41	chr3:155465200-155466200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:155465200-155466800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:155465200-155467000	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr3:155465400-155465800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr3:155465400-155466400	Enhancers	Fetal Brain Male	brain
46	chr3:155465400-155468000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr3:155465600-155466000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:155465600-155466200	Enhancers	Brain Germinal Matrix	brain
49	chr3:155465600-155467000	Enhancers	Fetal Brain Female	brain
50	chr3:155465600-155467400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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