Variant report

Variant	nsv980070
Chromosome Location	chr3:111592547-111602240
allele	n/a
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	CBX3	chr3:111593032-111593852	HCT-116	colon:	n/a	n/a
2	CBX3	chr3:111592999-111593839	HCT-116	colon:	n/a	n/a
3	CEBPB	chr3:111593055-111593793	HCT-116	colon:	n/a	n/a
4	CHD2	chr3:111593260-111593593	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr3:111594494-111594585	GM20000	blood:	n/a	n/a
6	E2F4	chr3:111592838-111592942	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr3:111593221-111593612	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr3:111593152-111593830	SK-N-SH	brain:	n/a	n/a
9	EP300	chr3:111593358-111593615	Hela-S3	cervix:	n/a	n/a
10	EP300	chr3:111593237-111593569	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr3:111601725-111601904	GM12878	blood:	n/a	n/a
12	FOS	chr3:111593279-111593644	MCF10A-Er-Src	breast:	n/a	chr3:111593457-111593468 chr3:111593299-111593311
13	FOS	chr3:111593198-111593647	HUVEC	blood vessel:	n/a	chr3:111593457-111593468 chr3:111593299-111593311
14	FOS	chr3:111593305-111593624	MCF10A-Er-Src	breast:	n/a	chr3:111593457-111593468
15	FOS	chr3:111593297-111593644	MCF10A-Er-Src	breast:	n/a	chr3:111593457-111593468 chr3:111593299-111593311
16	FOS	chr3:111593298-111593646	MCF10A-Er-Src	breast:	n/a	chr3:111593457-111593468 chr3:111593299-111593311
17	FOSL1	chr3:111593045-111593807	HCT-116	colon:	n/a	chr3:111593299-111593311
18	FOSL1	chr3:111592898-111593972	HCT-116	colon:	n/a	chr3:111593015-111593024 chr3:111593299-111593311
19	FOSL2	chr3:111593142-111593689	SK-N-SH	brain:	n/a	chr3:111593299-111593311
20	FOSL2	chr3:111593158-111593739	A549	lung:	n/a	chr3:111593299-111593311
21	FOSL2	chr3:111593284-111593627	A549	lung:	n/a	chr3:111593299-111593311
22	FOXA2	chr3:111593219-111593642	A549	lung:	n/a	n/a
23	GATA3	chr3:111593228-111593742	SK-N-SH	brain:	n/a	n/a
24	GTF2F1	chr3:111593321-111593661	Hela-S3	cervix:	n/a	n/a
25	JUND	chr3:111592974-111593925	HCT-116	colon:	n/a	chr3:111593015-111593024 chr3:111593299-111593311
26	JUND	chr3:111592966-111593743	SK-N-SH	brain:	n/a	chr3:111593015-111593024 chr3:111593299-111593311
27	JUND	chr3:111593030-111593897	HCT-116	colon:	n/a	chr3:111593299-111593311
28	JUND	chr3:111593109-111593748	SK-N-SH	brain:	n/a	chr3:111593299-111593311
29	MAFK	chr3:111592360-111592578	HepG2	liver:	n/a	chr3:111592503-111592523 chr3:111592506-111592520 chr3:111592505-111592521
30	MAX	chr3:111593067-111593860	HCT-116	colon:	n/a	n/a
31	MAX	chr3:111593057-111593871	HCT-116	colon:	n/a	n/a
32	MEF2A	chr3:111601548-111602022	GM12878	blood:	n/a	chr3:111601840-111601856 chr3:111601840-111601855 chr3:111601843-111601852 chr3:111601839-111601855 chr3:111601842-111601853
33	MEF2A	chr3:111601693-111601951	GM12878	blood:	n/a	chr3:111601840-111601856 chr3:111601840-111601855 chr3:111601843-111601852 chr3:111601839-111601855 chr3:111601842-111601853
34	MYC	chr3:111593250-111593450	MCF10A-Er-Src	breast:	n/a	n/a
35	NR3C1	chr3:111593247-111593583	A549	lung:	n/a	n/a
36	NR3C1	chr3:111593269-111593642	A549	lung:	n/a	n/a
37	NR3C1	chr3:111593247-111593595	A549	lung:	n/a	n/a
38	PBX3	chr3:111593078-111593788	SK-N-SH	brain:	n/a	n/a
39	PBX3	chr3:111593259-111593761	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr3:111593893-111594039	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr3:111593180-111593618	HCT-116	colon:	n/a	n/a
42	POLR2A	chr3:111601394-111601743	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr3:111597331-111597539	ProgFib	skin:	n/a	n/a
44	POLR2A	chr3:111593429-111593582	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr3:111593223-111593800	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr3:111601785-111601800	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr3:111592337-111593106	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr3:111592891-111593709	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr3:111595683-111595725	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr3:111593149-111593153	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:111581231..111584187-chr3:111592422..111594692,2	MCF-7	breast:
2	chr3:111589933..111591550-chr3:111593680..111595184,2	MCF-7	breast:
3	chr3:111599284..111601427-chr3:111601779..111604695,2	K562	blood:

Variant related genes	Relation type
PHLDB2	TF binding region
ENSG00000144824	chromatin interactions

Extended variants
information (count: 365 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187083152	chr3:111592582-111592583	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146379408	chr3:111592585-111592586	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542216498	chr3:111592591-111592592	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562100598	chr3:111592635-111592636	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139769305	chr3:111592666-111592667	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs57821301	chr3:111592707-111592708	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535673842	chr3:111592756-111592757	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564815346	chr3:111592766-111592767	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78828804	chr3:111592781-111592782	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546877764	chr3:111592783-111592784	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112285445	chr3:111592837-111592838	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73228543	chr3:111592838-111592839	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549414618	chr3:111592839-111592840	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371232233	chr3:111592841-111592842	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560340056	chr3:111592863-111592864	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527505155	chr3:111592913-111592914	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370983606	chr3:111592967-111592968	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569248236	chr3:111592975-111592976	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552300543	chr3:111593017-111593018	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs542427276	chr3:111593050-111593051	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs557399761	chr3:111593070-111593071	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs144185859	chr3:111593084-111593085	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs551883653	chr3:111593123-111593124	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs560736549	chr3:111593154-111593155	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs571640061	chr3:111593228-111593229	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs190381284	chr3:111593265-111593266	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs553501439	chr3:111593372-111593373	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs573605394	chr3:111593413-111593414	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs145184032	chr3:111593431-111593432	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs555760392	chr3:111593434-111593435	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs182729274	chr3:111593451-111593452	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs187507770	chr3:111593524-111593525	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs111821448	chr3:111593569-111593570	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs12330320	chr3:111593581-111593582	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs6786077	chr3:111593584-111593585	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs531963661	chr3:111593617-111593618	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs560635747	chr3:111593652-111593653	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs527804925	chr3:111593674-111593675	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs529637454	chr3:111593686-111593687	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs549727145	chr3:111593688-111593689	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs563158656	chr3:111593737-111593738	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs531771013	chr3:111593746-111593747	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs551480570	chr3:111593795-111593796	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs13080181	chr3:111593827-111593828	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs78716771	chr3:111593835-111593836	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192715057	chr3:111593874-111593875	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17425250	chr3:111593889-111593890	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183667056	chr3:111593945-111593946	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556081029	chr3:111593974-111593975	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112045056	chr3:111593996-111593997	Weak transcription Genic enhancers Enhancers	n/a	n/a	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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111581400-111593800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:111582200-111593200	Weak transcription	Lung	lung
3	chr3:111584600-111593200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:111584600-111603400	Weak transcription	Fetal Intestine Large	intestine
5	chr3:111585200-111622000	Weak transcription	HSMMtube	muscle
6	chr3:111585400-111592800	Weak transcription	HSMM	muscle
7	chr3:111585400-111593400	Weak transcription	Psoas Muscle	Psoas
8	chr3:111585400-111603400	Weak transcription	Spleen	Spleen
9	chr3:111585400-111609000	Weak transcription	Esophagus	oesophagus
10	chr3:111586400-111593000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:111587200-111593000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:111587200-111593200	Weak transcription	Gastric	stomach
13	chr3:111587200-111597200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:111587200-111603000	Weak transcription	Placenta	Placenta
15	chr3:111587800-111599200	Weak transcription	Liver	Liver
16	chr3:111588000-111593800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:111589000-111593200	Enhancers	A549	lung
18	chr3:111589200-111598400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:111589200-111603400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:111589800-111592600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:111589800-111592600	Weak transcription	NHDF-Ad	bronchial
22	chr3:111589800-111593200	Weak transcription	NHLF	lung
23	chr3:111589800-111603400	Weak transcription	Pancreas	Pancrea
24	chr3:111590800-111593800	Enhancers	Colon Smooth Muscle	Colon
25	chr3:111591000-111592600	Enhancers	Aorta	Aorta
26	chr3:111591000-111593800	Enhancers	Fetal Stomach	stomach
27	chr3:111591200-111593200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:111591200-111593400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr3:111591200-111593800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:111591400-111593000	Weak transcription	HMEC	breast
31	chr3:111591400-111593200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:111591400-111593600	Enhancers	Adipose Nuclei	Adipose
33	chr3:111591400-111593800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:111591400-111594000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:111591400-111598400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:111591600-111592800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:111591600-111593000	Weak transcription	Right Ventricle	heart
38	chr3:111591600-111593200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr3:111591600-111593200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:111591600-111593200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr3:111591600-111593200	Weak transcription	Left Ventricle	heart
42	chr3:111591600-111593400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr3:111591600-111593600	Enhancers	Fetal Heart	heart
44	chr3:111591600-111593800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:111591600-111598400	Weak transcription	Right Atrium	heart
46	chr3:111591600-111603200	Weak transcription	Ovary	ovary
47	chr3:111591600-111603600	Weak transcription	HepG2	liver
48	chr3:111591600-111610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:111591600-111633200	Weak transcription	Fetal Kidney	kidney
50	chr3:111591800-111592600	Enhancers	Pancreatic Islets	Pancreatic Islet

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