Variant report

Variant	nsv3961
Chromosome Location	chr3:118738168-118783335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:440)
CpG islands
(count:794)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:118753735-118753935	K562	blood:	n/a	n/a
2	ATF1	chr3:118739149-118739350	K562	blood:	n/a	n/a
3	BACH1	chr3:118753370-118754199	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr3:118753664-118753967	GM12878	blood:	n/a	chr3:118753861-118753877 chr3:118753762-118753778 chr3:118753864-118753880
5	BHLHE40	chr3:118753613-118754025	K562	blood:	n/a	chr3:118753861-118753877 chr3:118753762-118753778 chr3:118753864-118753880
6	CCNT2	chr3:118753087-118754043	K562	blood:	n/a	n/a
7	CEBPB	chr3:118741075-118741275	A549	lung:	n/a	chr3:118741136-118741147
8	CEBPB	chr3:118778947-118779140	HepG2	liver:	n/a	chr3:118779069-118779080
9	CEBPB	chr3:118741064-118741238	H1-hESC	embryonic stem cell:	n/a	chr3:118741136-118741147
10	CEBPB	chr3:118741024-118741203	K562	blood:	n/a	chr3:118741136-118741147
11	CEBPB	chr3:118741045-118741288	HepG2	liver:	n/a	chr3:118741136-118741147
12	CEBPB	chr3:118745368-118745633	HepG2	liver:	n/a	chr3:118745489-118745500
13	CEBPB	chr3:118740984-118741309	IMR90	lung:	n/a	chr3:118741136-118741147
14	CHD1	chr3:118753827-118753996	GM12878	blood:	n/a	n/a
15	CHD1	chr3:118752910-118753656	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr3:118753658-118753827	HepG2	liver:	n/a	chr3:118753765-118753775
17	CHD2	chr3:118753607-118753878	GM12878	blood:	n/a	chr3:118753765-118753775
18	CHD2	chr3:118753548-118753681	H1-hESC	embryonic stem cell:	n/a	n/a
19	CREB1	chr3:118753090-118753994	A549	lung:	n/a	n/a
20	CTBP2	chr3:118753482-118754214	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr3:118753600-118753750	BJ	skin:	n/a	n/a
22	CTCF	chr3:118753704-118753965	GM13976	blood:	n/a	n/a
23	CTCF	chr3:118753780-118753930	HCT-116	colon:	n/a	n/a
24	CTCF	chr3:118753820-118753970	A549	lung:	n/a	n/a
25	CTCF	chr3:118753800-118753950	AoAF	blood vessel:	n/a	n/a
26	CTCF	chr3:118753740-118753890	A549	lung:	n/a	n/a
27	CTCF	chr3:118753560-118753850	NHDF-neo	bronchial:	n/a	n/a
28	CTCF	chr3:118753780-118753930	GM12866	blood:	n/a	n/a
29	CTCF	chr3:118754020-118754170	AG09309	skin:	n/a	n/a
30	CTCF	chr3:118753680-118753830	HRE	kidney:	n/a	n/a
31	CTCF	chr3:118741946-118741964	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr3:118753780-118753930	GM12873	blood:	n/a	n/a
33	CTCF	chr3:118753521-118753966	HepG2	liver:	n/a	n/a
34	CTCF	chr3:118753630-118753959	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr3:118753760-118753910	GM12869	blood:	n/a	n/a
36	CTCF	chr3:118753719-118753957	GM20000	blood:	n/a	n/a
37	CTCF	chr3:118753454-118754013	MCF-7	breast:	n/a	n/a
38	CTCF	chr3:118753460-118753610	HEK293	kidney:	n/a	n/a
39	CTCF	chr3:118753780-118753930	NHLF	lung:	n/a	n/a
40	CTCF	chr3:118753700-118753850	HMF	breast:	n/a	n/a
41	CTCF	chr3:118753703-118753970	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr3:118753694-118753906	Lung_OC	lung:	n/a	n/a
43	CTCF	chr3:118753740-118753890	GM12874	blood:	n/a	n/a
44	CTCF	chr3:118753740-118753890	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr3:118753520-118753670	HCM	heart:	n/a	n/a
46	CTCF	chr3:118753672-118753959	K562	blood:	n/a	n/a
47	CTCF	chr3:118753520-118753670	WI-38	lung:	n/a	n/a
48	CTCF	chr3:118753740-118753890	GM06990	blood:	n/a	n/a
49	CTCF	chr3:118753520-118753670	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr3:118753760-118753910	GM12865	blood:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:118757898-118757948	ProgFib	skin:	n/a
2	chr3:118757898-118757948	ProgFib	skin:	n/a
3	chr3:118753705-118753755	PFSK-1	brain:	n/a
4	chr3:118753705-118753755	NH-A	brain:	n/a
5	chr3:118753005-118753055	U87	brain:	n/a
6	chr3:118753714-118753764	T-47D	breast:	n/a
7	chr3:118753871-118753921	SK-N-SH	brain:	n/a
8	chr3:118757898-118757948	HMEC	breast:	n/a
9	chr3:118753005-118753055	HCPEpiC	choroid plexus:	n/a
10	chr3:118753871-118753921	HUVEC	blood vessel:	n/a
11	chr3:118750463-118750513	HRPEpiC	eye:	n/a
12	chr3:118753005-118753055	AG09319	gingival:	n/a
13	chr3:118753093-118753143	HRCEpiC	kidney:	n/a
14	chr3:118753707-118753757	SK-N-SH_RA	brain:	n/a
15	chr3:118753610-118753660	BE2_C	brain:	n/a
16	chr3:118754376-118754426	U87	brain:	n/a
17	chr3:118757898-118757948	GM12878	blood:	n/a
18	chr3:118757898-118757948	PrEC	prostate:	n/a
19	chr3:118750463-118750513	ovcar-3	ovarian:	n/a
20	chr3:118753660-118753710	PrEC	prostate:	n/a
21	chr3:118754097-118754147	AG10803	skin:	n/a
22	chr3:118753738-118753788	ECC-1	luminal epithelium:	n/a
23	chr3:118753660-118753710	Hela-S3	cervix:	n/a
24	chr3:118753610-118753660	MCF10A-Er-Src	breast:	n/a
25	chr3:118757898-118757948	MCF10A-Er-Src	breast:	n/a
26	chr3:118753705-118753755	HRPEpiC	eye:	n/a
27	chr3:118754376-118754426	T-47D	breast:	n/a
28	chr3:118753714-118753764	GM12892	blood:	n/a
29	chr3:118754097-118754147	AG04450	lung:	fetal
30	chr3:118753005-118753055	Hepatocyte	liver:	n/a
31	chr3:118753738-118753788	GM19239	blood:	n/a
32	chr3:118753871-118753921	AG04449	skin:	fetal
33	chr3:118754097-118754147	NB4	blood:	n/a
34	chr3:118754097-118754147	GM12891	blood:	n/a
35	chr3:118753660-118753710	GM12878	blood:	n/a
36	chr3:118753714-118753764	HEEpiC	esophagus:	n/a
37	chr3:118754097-118754147	NH-A	brain:	n/a
38	chr3:118753707-118753757	HNPCEpiC	eye:	n/a
39	chr3:118753005-118753055	K562	blood:	n/a
40	chr3:118753660-118753710	HRCEpiC	kidney:	n/a
41	chr3:118753738-118753788	SK-N-SH	brain:	n/a
42	chr3:118753005-118753055	HCM	heart:	n/a
43	chr3:118753738-118753788	AG10803	skin:	n/a
44	chr3:118750463-118750513	HRCEpiC	kidney:	n/a
45	chr3:118753005-118753055	BJ	skin:	n/a
46	chr3:118753871-118753921	GM12891	blood:	n/a
47	chr3:118753093-118753143	GM12878	blood:	n/a
48	chr3:118757898-118757948	PANC-1	pancreas:	n/a
49	chr3:118753093-118753143	GM06990	blood:	n/a
50	chr3:118753707-118753757	HRPEpiC	eye:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:118603583..118604395-chr3:118755020..118755749,3	MCF-7	breast:
2	chr19:34079834..34082285-chr3:118740671..118743263,2	MCF-7	breast:
3	chr3:118780729..118783547-chr3:118785374..118787661,2	K562	blood:
4	chr3:118781130..118783547-chr3:118786161..118788492,2	K562	blood:

No data

Variant related genes	Relation type
IGSF11	TF binding region
IGSF11	CpG island
ENSG00000232429	chromatin interactions

Extended variants
information (count: 972 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:972 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565650691	chr3:118738246-118738247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs56197139	chr3:118738259-118738260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562290439	chr3:118738305-118738306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575884036	chr3:118738348-118738349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534336020	chr3:118738364-118738365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143092480	chr3:118738365-118738366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555945784	chr3:118738384-118738385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574126361	chr3:118738395-118738396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541355648	chr3:118738411-118738412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544459069	chr3:118738420-118738421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187269094	chr3:118738451-118738452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138518552	chr3:118738474-118738475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9821173	chr3:118738479-118738480	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs373724726	chr3:118738485-118738486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141573128	chr3:118738577-118738578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531042009	chr3:118738580-118738581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79666291	chr3:118738614-118738615	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs146392924	chr3:118738629-118738630	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs192176345	chr3:118738656-118738657	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs571554854	chr3:118738703-118738704	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs538683197	chr3:118738706-118738707	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs35870	chr3:118738785-118738786	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559377461	chr3:118738821-118738822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182313300	chr3:118738828-118738829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536371914	chr3:118738857-118738858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549170233	chr3:118738862-118738863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138453467	chr3:118738893-118738894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186638646	chr3:118738918-118738919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373100058	chr3:118738943-118738944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191409585	chr3:118738949-118738950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143068585	chr3:118739001-118739002	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs150658426	chr3:118739017-118739018	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs1861051	chr3:118739018-118739019	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139906332	chr3:118739066-118739067	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs12491204	chr3:118739069-118739070	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs182774357	chr3:118739078-118739079	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs114169782	chr3:118739117-118739118	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs565024788	chr3:118739166-118739167	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs532465607	chr3:118739167-118739168	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs187103652	chr3:118739186-118739187	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs568865236	chr3:118739233-118739234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562498530	chr3:118739301-118739302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548306606	chr3:118739322-118739323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537344576	chr3:118739359-118739360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566226955	chr3:118739448-118739449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75282967	chr3:118739476-118739477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553161943	chr3:118739482-118739483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76442420	chr3:118739501-118739502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539340810	chr3:118739507-118739508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35869	chr3:118739524-118739525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
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
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118730000-118742000	Enhancers	Brain Angular Gyrus	brain
2	chr3:118730800-118738600	Enhancers	Brain Anterior Caudate	brain
3	chr3:118730800-118741800	Enhancers	Brain Substantia Nigra	brain
4	chr3:118733000-118740000	Enhancers	Brain Hippocampus Middle	brain
5	chr3:118735200-118738200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:118735200-118738400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:118735200-118739000	Weak transcription	Pancreas	Pancrea
8	chr3:118735800-118738800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:118735800-118739600	Enhancers	Brain Germinal Matrix	brain
10	chr3:118736200-118738200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:118736600-118744400	Enhancers	Brain Cingulate Gyrus	brain
12	chr3:118736800-118740000	Enhancers	Fetal Brain Male	brain
13	chr3:118737000-118738200	Enhancers	Stomach Smooth Muscle	stomach
14	chr3:118737000-118741200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr3:118737200-118738400	Enhancers	A549	lung
16	chr3:118737400-118738200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:118737400-118739400	Enhancers	Fetal Heart	heart
18	chr3:118737400-118739600	Enhancers	Colon Smooth Muscle	Colon
19	chr3:118737400-118740000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:118737600-118738400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr3:118737600-118739200	Enhancers	Fetal Brain Female	brain
22	chr3:118737600-118739400	Enhancers	Ovary	ovary
23	chr3:118737800-118738200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:118737800-118738200	Weak transcription	Psoas Muscle	Psoas
25	chr3:118738000-118738200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr3:118738000-118738400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr3:118738000-118739000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:118738000-118739600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:118738200-118738600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:118738200-118738800	Enhancers	Psoas Muscle	Psoas
31	chr3:118738200-118739200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:118738200-118739200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:118738200-118739600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr3:118738200-118741200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:118738400-118738800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:118738400-118738800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:118738400-118739000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:118738400-118739400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:118738400-118744000	Weak transcription	A549	lung
40	chr3:118738600-118738800	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr3:118738600-118744200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr3:118738800-118739000	Enhancers	Brain Anterior Caudate	brain
43	chr3:118738800-118739000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr3:118738800-118739400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr3:118738800-118739400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr3:118738800-118739800	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr3:118739000-118739200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr3:118739000-118739400	Enhancers	Pancreas	Pancrea
49	chr3:118739000-118742600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr3:118739200-118741000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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