Variant report

Variant	nsv437890
Chromosome Location	chr3:158774340-158792286
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	BACH1	chr3:158775426-158775743	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr3:158775586-158775638	K562	blood:	n/a	n/a
3	CTCF	chr3:158777320-158777470	AG09319	gingival:	n/a	n/a
4	CTCF	chr3:158777300-158777450	AG09319	gingival:	n/a	n/a
5	CTCF	chr3:158780880-158781030	GM12864	blood:	n/a	n/a
6	CTCF	chr3:158777325-158777449	HepG2	liver:	n/a	n/a
7	CTCF	chr3:158777340-158777490	Caco-2	colon:	n/a	n/a
8	CTCF	chr3:158777300-158777450	MCF-7	breast:	n/a	n/a
9	CTCF	chr3:158777316-158777451	MCF-7	breast:	n/a	n/a
10	CTCF	chr3:158777300-158777450	HCT-116	colon:	n/a	n/a
11	CTCF	chr3:158777320-158777470	WERI-Rb-1	eye:	n/a	n/a
12	CTCF	chr3:158777350-158777443	ProgFib	skin:	n/a	n/a
13	CTCF	chr3:158777311-158777444	MCF-7	breast:	n/a	n/a
14	CTCF	chr3:158777357-158777468	GM12878	blood:	n/a	n/a
15	CTCF	chr3:158777306-158777453	MCF-7	breast:	n/a	n/a
16	CTCF	chr3:158777347-158777408	GM19240	blood:	n/a	n/a
17	CTCF	chr3:158777383-158777422	GM10248	blood:	n/a	n/a
18	CTCF	chr3:158777397-158777429	LNCaP	prostate:	n/a	n/a
19	CTCF	chr3:158777279-158777671	MCF-7	breast:	n/a	n/a
20	CTCF	chr3:158777276-158777687	MCF-7	breast:	n/a	n/a
21	CTCF	chr3:158777376-158777446	LNCaP	prostate:	n/a	n/a
22	CTCF	chr3:158777340-158777490	MCF-7	breast:	n/a	n/a
23	CTCF	chr3:158780840-158780990	GM12869	blood:	n/a	n/a
24	CTCF	chr3:158777284-158777506	MCF-7	breast:	n/a	n/a
25	CTCF	chr3:158780900-158781050	GM12865	blood:	n/a	n/a
26	CTCF	chr3:158777292-158777494	MCF-7	breast:	n/a	n/a
27	CTCF	chr3:158777393-158777401	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr3:158777403-158777440	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr3:158777355-158777400	Fibrobl	skin:	n/a	n/a
30	CTCF	chr3:158777353-158777429	GM12892	blood:	n/a	n/a
31	CTCF	chr3:158777277-158777569	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr3:158777361-158777451	HepG2	liver:	n/a	n/a
33	CTCF	chr3:158777356-158777459	Gliobla	brain:	n/a	n/a
34	FOS	chr3:158775400-158775604	HUVEC	blood vessel:	n/a	n/a
35	GATA3	chr3:158782321-158782386	SH-SY5Y	brain:	n/a	n/a
36	MAFF	chr3:158791156-158791313	HepG2	liver:	n/a	chr3:158791239-158791257
37	MAFF	chr3:158775435-158775799	HepG2	liver:	n/a	chr3:158775640-158775654 chr3:158775641-158775659 chr3:158775606-158775624
38	MAFF	chr3:158775492-158775685	K562	blood:	n/a	chr3:158775640-158775654 chr3:158775641-158775659 chr3:158775606-158775624
39	MAFK	chr3:158775540-158775770	K562	blood:	n/a	chr3:158775609-158775618 chr3:158775637-158775657 chr3:158775612-158775623 chr3:158775610-158775624 chr3:158775607-158775622 chr3:158775612-158775623 chr3:158775643-158775653 chr3:158775588-158775599 chr3:158775611-158775622 chr3:158775642-158775657 chr3:158775607-158775623
40	MAFK	chr3:158775585-158775785	H1-hESC	embryonic stem cell:	n/a	chr3:158775609-158775618 chr3:158775637-158775657 chr3:158775612-158775623 chr3:158775610-158775624 chr3:158775607-158775622 chr3:158775612-158775623 chr3:158775643-158775653 chr3:158775588-158775599 chr3:158775611-158775622 chr3:158775642-158775657 chr3:158775607-158775623
41	MAFK	chr3:158775459-158775786	IMR90	lung:	n/a	chr3:158775609-158775618 chr3:158775637-158775657 chr3:158775612-158775623 chr3:158775610-158775624 chr3:158775607-158775622 chr3:158775612-158775623 chr3:158775643-158775653 chr3:158775588-158775599 chr3:158775611-158775622 chr3:158775642-158775657 chr3:158775607-158775623
42	MAFK	chr3:158775491-158775793	HepG2	liver:	n/a	chr3:158775609-158775618 chr3:158775637-158775657 chr3:158775612-158775623 chr3:158775610-158775624 chr3:158775607-158775622 chr3:158775612-158775623 chr3:158775643-158775653 chr3:158775588-158775599 chr3:158775611-158775622 chr3:158775642-158775657 chr3:158775607-158775623
43	MAFK	chr3:158775442-158775816	HepG2	liver:	n/a	chr3:158775609-158775618 chr3:158775637-158775657 chr3:158775612-158775623 chr3:158775610-158775624 chr3:158775607-158775622 chr3:158775612-158775623 chr3:158775643-158775653 chr3:158775588-158775599 chr3:158775611-158775622 chr3:158775642-158775657 chr3:158775607-158775623
44	MAFK	chr3:158791205-158791388	HepG2	liver:	n/a	n/a
45	POLR2A	chr3:158790946-158791020	A549	lung:	n/a	n/a
46	POLR2A	chr3:158780111-158780236	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr3:158786925-158787345	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr3:158790975-158791048	Gliobla	brain:	n/a	n/a
49	RAD21	chr3:158777276-158777504	SK-N-SH_RA	brain:	n/a	n/a
50	RAD21	chr3:158777224-158777558	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:158787141-158787191	A549	lung:	n/a
2	chr3:158787141-158787191	A549	lung:	n/a
3	chr3:158786187-158786237	HEEpiC	esophagus:	n/a
4	chr3:158786242-158786292	HRE	kidney:	n/a
5	chr3:158787141-158787191	ovcar-3	ovarian:	n/a
6	chr3:158786187-158786237	IMR90	lung:	fetal
7	chr3:158786193-158786243	GM19239	blood:	n/a
8	chr3:158787141-158787191	MCF-7	breast:	n/a
9	chr3:158786187-158786237	PFSK-1	brain:	n/a
10	chr3:158786963-158787013	HIPEpiC	eye:	n/a
11	chr3:158786242-158786292	ovcar-3	ovarian:	n/a
12	chr3:158786187-158786237	PrEC	prostate:	n/a
13	chr3:158786242-158786292	HEK293	kidney:	embryo
14	chr3:158786963-158787013	T-47D	breast:	n/a
15	chr3:158786963-158787013	MCF10A-Er-Src	breast:	n/a
16	chr3:158787141-158787191	HCM	heart:	n/a
17	chr3:158786963-158787013	HAEpiC	amniotic membrane:	n/a
18	chr3:158786242-158786292	Hepatocyte	liver:	n/a
19	chr3:158786963-158787013	HCT-116	colon:	n/a
20	chr3:158787141-158787191	HIPEpiC	eye:	n/a
21	chr3:158786963-158787013	Hela-S3	cervix:	n/a
22	chr3:158786193-158786243	K562	blood:	n/a
23	chr3:158787141-158787191	BE2_C	brain:	n/a
24	chr3:158786242-158786292	HepG2	liver:	n/a
25	chr3:158786242-158786292	BE2_C	brain:	n/a
26	chr3:158786242-158786292	AoSMC	blood vessel:	n/a
27	chr3:158786193-158786243	Hepatocyte	liver:	n/a
28	chr3:158786193-158786243	SAEC	small airway:	n/a
29	chr3:158786242-158786292	MCF-7	breast:	n/a
30	chr3:158786187-158786237	HAEpiC	amniotic membrane:	n/a
31	chr3:158786242-158786292	NT2-D1	testis:	n/a
32	chr3:158786963-158787013	AG04450	lung:	fetal
33	chr3:158787141-158787191	ECC-1	luminal epithelium:	n/a
34	chr3:158786242-158786292	NH-A	brain:	n/a
35	chr3:158786193-158786243	Caco-2	colon:	n/a
36	chr3:158786963-158787013	HL-60	blood:	n/a
37	chr3:158786963-158787013	AG10803	skin:	n/a
38	chr3:158786193-158786243	MCF10A-Er-Src	breast:	n/a
39	chr3:158786193-158786243	GM12878	blood:	n/a
40	chr3:158786963-158787013	HEK293	kidney:	embryo
41	chr3:158787141-158787191	Hela-S3	cervix:	n/a
42	chr3:158787141-158787191	AoSMC	blood vessel:	n/a
43	chr3:158787141-158787191	AG04450	lung:	fetal
44	chr3:158786187-158786237	NHBE	bronchial:	n/a
45	chr3:158786187-158786237	HEK293	kidney:	embryo
46	chr3:158786193-158786243	H1-hESC	embryonic stem cell:	embryo
47	chr3:158786193-158786243	AG04449	skin:	fetal
48	chr3:158786963-158787013	HCM	heart:	n/a
49	chr3:158786193-158786243	NB4	blood:	n/a
50	chr3:158786242-158786292	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:158635419..158636195-chr3:158776837..158777566,3	MCF-7	breast:

Variant related genes	Relation type
IQCJ	TF binding region
IQCJ-SCHIP1	TF binding region
IQCJ	CpG island
IQCJ-SCHIP1	CpG island

Extended variants
information (count: 439 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186223792	chr3:158775019-158775020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140534553	chr3:158775020-158775021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116025229	chr3:158775064-158775065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571396683	chr3:158775067-158775068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145825644	chr3:158775084-158775085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531552983	chr3:158775173-158775174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528240005	chr3:158775246-158775247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372854610	chr3:158775267-158775268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79442198	chr3:158775276-158775277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555831402	chr3:158775309-158775310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375852596	chr3:158775404-158775405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567310035	chr3:158775498-158775499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112183409	chr3:158775542-158775543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537883194	chr3:158775567-158775568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58791262	chr3:158775661-158775662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs386667518	chr3:158775666-158775667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16844902	chr3:158775667-158775668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs11285939	chr3:158775668-158775669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577686191	chr3:158775698-158775699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1501280	chr3:158775781-158775782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs571848135	chr3:158775822-158775823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370943321	chr3:158775840-158775841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6768168	chr3:158775879-158775880	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs569441178	chr3:158775922-158775923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542897778	chr3:158775938-158775939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180749114	chr3:158775944-158775945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75568261	chr3:158775949-158775950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543416338	chr3:158775950-158775951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373421840	chr3:158775978-158775979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61795962	chr3:158776801-158776802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372026454	chr3:158776820-158776821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138676538	chr3:158776851-158776852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538692915	chr3:158776879-158776880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28526501	chr3:158776900-158776901	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187976081	chr3:158776938-158776939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116267677	chr3:158776989-158776990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369021892	chr3:158777065-158777066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149353008	chr3:158777073-158777074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572804856	chr3:158777107-158777108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191507732	chr3:158777117-158777118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144112900	chr3:158777122-158777123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559749745	chr3:158777125-158777126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576754513	chr3:158777240-158777241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113658111	chr3:158777276-158777277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78717445	chr3:158777304-158777305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574413214	chr3:158777316-158777317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541533665	chr3:158777342-158777343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555602436	chr3:158777344-158777345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73025572	chr3:158777356-158777357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77030478	chr3:158777379-158777380	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	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
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158775000-158776000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr3:158776800-158777400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:158780400-158781000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:158781800-158782600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:158782200-158782600	Enhancers	Fetal Brain Male	brain
6	chr3:158782600-158787000	Weak transcription	Fetal Brain Male	brain
7	chr3:158783800-158787000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:158785600-158785800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:158785800-158786800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:158786600-158786800	Active TSS	Fetal Brain Female	brain
11	chr3:158786800-158787200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:158786800-158787200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:158786800-158787200	Enhancers	Brain Germinal Matrix	brain
14	chr3:158786800-158787400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:158786800-158787600	Flanking Active TSS	Fetal Brain Female	brain
16	chr3:158787000-158787200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:158787000-158788000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:158787000-158788000	Active TSS	Brain Cingulate Gyrus	brain
19	chr3:158787000-158788000	Enhancers	Fetal Brain Male	brain
20	chr3:158787000-158788200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr3:158787200-158788200	Active TSS	Brain Anterior Caudate	brain
22	chr3:158787200-158791200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:158787600-158787800	Active TSS	Fetal Brain Female	brain
24	chr3:158787800-158788000	Flanking Active TSS	Fetal Brain Female	brain
25	chr3:158788000-158789600	Active TSS	Fetal Brain Female	brain
26	chr3:158791200-158791400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:158791400-158793200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:158792200-158792800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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