Variant report

Variant	esv2762352
Chromosome Location	chr3:158774818-158802486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:173)
CpG islands
(count:305)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:173 , 50 per page) page: 1 2 3 4

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	CCNT2	chr3:158802209-158802352	K562	blood:	n/a	n/a
4	CEBPB	chr3:158798868-158798970	A549	lung:	n/a	n/a
5	CTCF	chr3:158777316-158777451	MCF-7	breast:	n/a	n/a
6	CTCF	chr3:158777347-158777408	GM19240	blood:	n/a	n/a
7	CTCF	chr3:158777340-158777490	MCF-7	breast:	n/a	n/a
8	CTCF	chr3:158777353-158777429	GM12892	blood:	n/a	n/a
9	CTCF	chr3:158777279-158777671	MCF-7	breast:	n/a	n/a
10	CTCF	chr3:158777300-158777450	HCT-116	colon:	n/a	n/a
11	CTCF	chr3:158777357-158777468	GM12878	blood:	n/a	n/a
12	CTCF	chr3:158777311-158777444	MCF-7	breast:	n/a	n/a
13	CTCF	chr3:158777306-158777453	MCF-7	breast:	n/a	n/a
14	CTCF	chr3:158777292-158777494	MCF-7	breast:	n/a	n/a
15	CTCF	chr3:158777383-158777422	GM10248	blood:	n/a	n/a
16	CTCF	chr3:158777276-158777687	MCF-7	breast:	n/a	n/a
17	CTCF	chr3:158777350-158777443	ProgFib	skin:	n/a	n/a
18	CTCF	chr3:158780840-158780990	GM12869	blood:	n/a	n/a
19	CTCF	chr3:158780900-158781050	GM12865	blood:	n/a	n/a
20	CTCF	chr3:158777277-158777569	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr3:158777340-158777490	Caco-2	colon:	n/a	n/a
22	CTCF	chr3:158777403-158777440	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr3:158777361-158777451	HepG2	liver:	n/a	n/a
24	CTCF	chr3:158777355-158777400	Fibrobl	skin:	n/a	n/a
25	CTCF	chr3:158777320-158777470	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr3:158777393-158777401	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr3:158777397-158777429	LNCaP	prostate:	n/a	n/a
28	CTCF	chr3:158777300-158777450	MCF-7	breast:	n/a	n/a
29	CTCF	chr3:158777284-158777506	MCF-7	breast:	n/a	n/a
30	CTCF	chr3:158777356-158777459	Gliobla	brain:	n/a	n/a
31	CTCF	chr3:158777320-158777470	AG09319	gingival:	n/a	n/a
32	CTCF	chr3:158777325-158777449	HepG2	liver:	n/a	n/a
33	CTCF	chr3:158777300-158777450	AG09319	gingival:	n/a	n/a
34	CTCF	chr3:158777376-158777446	LNCaP	prostate:	n/a	n/a
35	CTCF	chr3:158780880-158781030	GM12864	blood:	n/a	n/a
36	E2F4	chr3:158795657-158796057	MCF10A-Er-Src	breast:	n/a	n/a
37	EP300	chr3:158800029-158800926	SK-N-SH	brain:	n/a	chr3:158800617-158800631
38	EP300	chr3:158795576-158796123	SK-N-SH_RA	brain:	n/a	chr3:158795706-158795714
39	EP300	chr3:158800157-158801020	SK-N-SH_RA	brain:	n/a	chr3:158800617-158800631
40	EP300	chr3:158793105-158793337	SK-N-SH_RA	brain:	n/a	chr3:158793241-158793251
41	EP300	chr3:158799984-158801370	SK-N-SH	brain:	n/a	chr3:158800617-158800631
42	EP300	chr3:158795486-158796324	SK-N-SH	brain:	n/a	chr3:158795706-158795714
43	EP300	chr3:158793101-158793422	SK-N-SH_RA	brain:	n/a	chr3:158793241-158793251
44	EP300	chr3:158800174-158800871	SK-N-SH_RA	brain:	n/a	chr3:158800617-158800631
45	EP300	chr3:158795639-158796096	SK-N-SH_RA	brain:	n/a	chr3:158795706-158795714
46	EP300	chr3:158800014-158800896	SK-N-SH	brain:	n/a	chr3:158800617-158800631
47	EP300	chr3:158795365-158796209	SK-N-SH	brain:	n/a	chr3:158795706-158795714
48	EP300	chr3:158795421-158796244	SK-N-SH	brain:	n/a	chr3:158795706-158795714
49	FOS	chr3:158795653-158796102	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr3:158795628-158796124	MCF10A-Er-Src	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:158786187-158786237	SK-N-SH_RA	brain:	n/a
2	chr3:158787141-158787191	HAEpiC	amniotic membrane:	n/a
3	chr3:158786193-158786243	HL-60	blood:	n/a
4	chr3:158786187-158786237	AG10803	skin:	n/a
5	chr3:158786193-158786243	NH-A	brain:	n/a
6	chr3:158786242-158786292	BE2_C	brain:	n/a
7	chr3:158786242-158786292	HNPCEpiC	eye:	n/a
8	chr3:158786963-158787013	HCF	heart:	n/a
9	chr3:158786187-158786237	BJ	skin:	n/a
10	chr3:158786193-158786243	Hepatocyte	liver:	n/a
11	chr3:158786187-158786237	GM12878	blood:	n/a
12	chr3:158787141-158787191	HL-60	blood:	n/a
13	chr3:158786193-158786243	PANC-1	pancreas:	n/a
14	chr3:158786187-158786237	SK-N-MC	brain:	n/a
15	chr3:158786242-158786292	HPAEpiC	pulmonary alveolar:	n/a
16	chr3:158786187-158786237	BE2_C	brain:	n/a
17	chr3:158786187-158786237	AG04449	skin:	fetal
18	chr3:158786963-158787013	HCPEpiC	choroid plexus:	n/a
19	chr3:158786963-158787013	AoSMC	blood vessel:	n/a
20	chr3:158787141-158787191	K562	blood:	n/a
21	chr3:158786193-158786243	MCF-7	breast:	n/a
22	chr3:158786242-158786292	ProgFib	skin:	n/a
23	chr3:158786187-158786237	NH-A	brain:	n/a
24	chr3:158787141-158787191	ProgFib	skin:	n/a
25	chr3:158786963-158787013	GM12891	blood:	n/a
26	chr3:158786193-158786243	ovcar-3	ovarian:	n/a
27	chr3:158787141-158787191	SK-N-SH_RA	brain:	n/a
28	chr3:158786963-158787013	Hela-S3	cervix:	n/a
29	chr3:158786242-158786292	MCF10A-Er-Src	breast:	n/a
30	chr3:158786193-158786243	SK-N-SH_RA	brain:	n/a
31	chr3:158786963-158787013	NT2-D1	testis:	n/a
32	chr3:158786242-158786292	HUVEC	blood vessel:	n/a
33	chr3:158786187-158786237	ProgFib	skin:	n/a
34	chr3:158787141-158787191	GM12892	blood:	n/a
35	chr3:158787141-158787191	H1-hESC	embryonic stem cell:	embryo
36	chr3:158787141-158787191	CMK	blood:	n/a
37	chr3:158786193-158786243	A549	lung:	n/a
38	chr3:158787141-158787191	NB4	blood:	n/a
39	chr3:158786242-158786292	AG10803	skin:	n/a
40	chr3:158786193-158786243	NHDF-neo	bronchial:	n/a
41	chr3:158787141-158787191	HCM	heart:	n/a
42	chr3:158786242-158786292	HCF	heart:	n/a
43	chr3:158786963-158787013	AG10803	skin:	n/a
44	chr3:158787141-158787191	PrEC	prostate:	n/a
45	chr3:158787141-158787191	GM12891	blood:	n/a
46	chr3:158786187-158786237	GM12892	blood:	n/a
47	chr3:158787141-158787191	AG04449	skin:	fetal
48	chr3:158786193-158786243	ECC-1	luminal epithelium:	n/a
49	chr3:158786242-158786292	LNCaP	prostate:	n/a
50	chr3:158786963-158787013	PANC-1	pancreas:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:158796947..158799712-chr3:158801719..158803953,2	K562	blood:
2	chr3:158635419..158636195-chr3:158776837..158777566,3	MCF-7	breast:
3	chr3:158796947..158799712-chr3:158801719..158803953,2	K562	blood:
4	chr3:158795514..158797113-chr3:158798982..158801644,2	K562	blood:
5	chr3:158795514..158797113-chr3:158798982..158801644,2	K562	blood:

No data

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

Extended variants
information (count: 783 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:783 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

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:53)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

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
29	chr3:158792800-158793400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:158792800-158794000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:158793200-158793400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:158793400-158793800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:158793400-158797000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:158793800-158795000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:158794000-158794800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:158794600-158797200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:158794800-158797000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:158794800-158797200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:158794800-158801200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr3:158795000-158795200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:158795200-158795600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:158795200-158797000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:158795200-158797200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:158795400-158797000	Enhancers	Osteobl	bone
45	chr3:158795400-158797200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:158795400-158797200	Enhancers	HSMM	muscle
47	chr3:158795400-158797200	Enhancers	HUVEC	blood vessel
48	chr3:158795600-158797200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:158795800-158797000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:158796000-158796800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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