Variant report

Variant	nsv591359
Chromosome Location	chr3:118742848-118801854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:435)
CpG islands
(count:856)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:435 , 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	BACH1	chr3:118753370-118754199	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr3:118753664-118753967	GM12878	blood:	n/a	chr3:118753861-118753877 chr3:118753762-118753778 chr3:118753864-118753880
4	BHLHE40	chr3:118753613-118754025	K562	blood:	n/a	chr3:118753861-118753877 chr3:118753762-118753778 chr3:118753864-118753880
5	CCNT2	chr3:118753087-118754043	K562	blood:	n/a	n/a
6	CEBPB	chr3:118778947-118779140	HepG2	liver:	n/a	chr3:118779069-118779080
7	CEBPB	chr3:118745368-118745633	HepG2	liver:	n/a	chr3:118745489-118745500
8	CHD1	chr3:118752910-118753656	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr3:118753827-118753996	GM12878	blood:	n/a	n/a
10	CHD2	chr3:118753658-118753827	HepG2	liver:	n/a	chr3:118753765-118753775
11	CHD2	chr3:118753607-118753878	GM12878	blood:	n/a	chr3:118753765-118753775
12	CHD2	chr3:118753548-118753681	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr3:118753090-118753994	A549	lung:	n/a	n/a
14	CTBP2	chr3:118753482-118754214	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr3:118753720-118753870	GM12865	blood:	n/a	n/a
16	CTCF	chr3:118753518-118753521	GM19240	blood:	n/a	n/a
17	CTCF	chr3:118753703-118753970	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr3:118753672-118753959	K562	blood:	n/a	n/a
19	CTCF	chr3:118752952-118754403	A549	lung:	n/a	n/a
20	CTCF	chr3:118753704-118753965	GM13976	blood:	n/a	n/a
21	CTCF	chr3:118753780-118753930	GM12866	blood:	n/a	n/a
22	CTCF	chr3:118754100-118754250	BJ	skin:	n/a	n/a
23	CTCF	chr3:118753700-118753850	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr3:118753760-118753910	HEEpiC	esophagus:	n/a	n/a
25	CTCF	chr3:118753719-118753957	GM20000	blood:	n/a	n/a
26	CTCF	chr3:118753547-118753633	LNCaP	prostate:	n/a	n/a
27	CTCF	chr3:118753740-118753890	GM12870	blood:	n/a	n/a
28	CTCF	chr3:118754140-118754290	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr3:118753500-118753650	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr3:118753558-118754052	GM12878	blood:	n/a	n/a
31	CTCF	chr3:118753740-118753890	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr3:118753380-118753530	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr3:118753513-118753699	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr3:118753800-118753950	Caco-2	colon:	n/a	n/a
35	CTCF	chr3:118753760-118753910	GM12873	blood:	n/a	n/a
36	CTCF	chr3:118754081-118754169	GM13977	blood:	n/a	n/a
37	CTCF	chr3:118753760-118753910	HEK293	kidney:	n/a	n/a
38	CTCF	chr3:118753520-118753670	A549	lung:	n/a	n/a
39	CTCF	chr3:118753700-118753850	GM12878	blood:	n/a	n/a
40	CTCF	chr3:118753689-118753969	GM10248	blood:	n/a	n/a
41	CTCF	chr3:118753580-118753730	HFF	foreskin:	n/a	n/a
42	CTCF	chr3:118754020-118754170	GM12866	blood:	n/a	n/a
43	CTCF	chr3:118753740-118753890	A549	lung:	n/a	n/a
44	CTCF	chr3:118753527-118753956	LNCaP	prostate:	n/a	n/a
45	CTCF	chr3:118753600-118753750	BJ	skin:	n/a	n/a
46	CTCF	chr3:118753514-118753971	MCF-7	breast:	n/a	n/a
47	CTCF	chr3:118753780-118753930	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr3:118753750-118753927	HepG2	liver:	n/a	n/a
49	CTCF	chr3:118753592-118753971	GM12878	blood:	n/a	n/a
50	CTCF	chr3:118753760-118753910	HCPEpiC	choroid plexus:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:118753705-118753755	ovcar-3	ovarian:	n/a
2	chr3:118753738-118753788	NB4	blood:	n/a
3	chr3:118753705-118753755	ovcar-3	ovarian:	n/a
4	chr3:118753738-118753788	NB4	blood:	n/a
5	chr3:118792317-118792367	RPTEC	kidney:	n/a
6	chr3:118753660-118753710	HAEpiC	amniotic membrane:	n/a
7	chr3:118753738-118753788	HepG2	liver:	n/a
8	chr3:118753738-118753788	AG04450	lung:	fetal
9	chr3:118753093-118753143	ovcar-3	ovarian:	n/a
10	chr3:118753093-118753143	NT2-D1	testis:	n/a
11	chr3:118753714-118753764	ovcar-3	ovarian:	n/a
12	chr3:118753738-118753788	AG09319	gingival:	n/a
13	chr3:118754376-118754426	K562	blood:	n/a
14	chr3:118792317-118792367	GM06990	blood:	n/a
15	chr3:118754376-118754426	Caco-2	colon:	n/a
16	chr3:118753705-118753755	RPTEC	kidney:	n/a
17	chr3:118754376-118754426	HPAEpiC	pulmonary alveolar:	n/a
18	chr3:118750463-118750513	AG09309	skin:	n/a
19	chr3:118757898-118757948	RPTEC	kidney:	n/a
20	chr3:118753705-118753755	HCF	heart:	n/a
21	chr3:118753660-118753710	NH-A	brain:	n/a
22	chr3:118753093-118753143	AoSMC	blood vessel:	n/a
23	chr3:118753660-118753710	GM12892	blood:	n/a
24	chr3:118753871-118753921	BJ	skin:	n/a
25	chr3:118753738-118753788	Caco-2	colon:	n/a
26	chr3:118753005-118753055	HUVEC	blood vessel:	n/a
27	chr3:118753705-118753755	CMK	blood:	n/a
28	chr3:118750463-118750513	Jurkat	blood:	n/a
29	chr3:118753738-118753788	ProgFib	skin:	n/a
30	chr3:118753705-118753755	AG09309	skin:	n/a
31	chr3:118753610-118753660	Jurkat	blood:	n/a
32	chr3:118757898-118757948	ProgFib	skin:	n/a
33	chr3:118753610-118753660	NT2-D1	testis:	n/a
34	chr3:118757898-118757948	MCF-7	breast:	n/a
35	chr3:118753705-118753755	BJ	skin:	n/a
36	chr3:118753660-118753710	MCF-7	breast:	n/a
37	chr3:118754376-118754426	HCT-116	colon:	n/a
38	chr3:118753093-118753143	AG04450	lung:	fetal
39	chr3:118753714-118753764	AG09319	gingival:	n/a
40	chr3:118753093-118753143	HL-60	blood:	n/a
41	chr3:118753707-118753757	HCM	heart:	n/a
42	chr3:118753707-118753757	HEK293	kidney:	embryo
43	chr3:118753005-118753055	NHDF-neo	bronchial:	n/a
44	chr3:118792317-118792367	Jurkat	blood:	n/a
45	chr3:118754097-118754147	AG04450	lung:	fetal
46	chr3:118753707-118753757	MCF-7	breast:	n/a
47	chr3:118753660-118753710	BE2_C	brain:	n/a
48	chr3:118753005-118753055	HCPEpiC	choroid plexus:	n/a
49	chr3:118753005-118753055	LNCaP	prostate:	n/a
50	chr3:118753714-118753764	MCF-7	breast:	n/a

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

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

No data

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

Extended variants
information (count: 896 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:896 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs39688	chr3:118742848-118742849	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569145067	chr3:118742899-118742900	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575996965	chr3:118742990-118742991	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189980482	chr3:118743025-118743026	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9847137	chr3:118743042-118743043	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573792292	chr3:118743044-118743045	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541096228	chr3:118743202-118743203	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182144241	chr3:118743210-118743211	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538029534	chr3:118743211-118743212	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188055726	chr3:118743230-118743231	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546212114	chr3:118743316-118743317	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192815500	chr3:118743350-118743351	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs577908192	chr3:118743379-118743380	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs76127965	chr3:118743416-118743417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550148397	chr3:118743432-118743433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183461289	chr3:118743434-118743435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529361803	chr3:118743438-118743439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547456454	chr3:118743463-118743464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6773721	chr3:118743469-118743470	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539612772	chr3:118743472-118743473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113064191	chr3:118743476-118743477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569936194	chr3:118743479-118743480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536909926	chr3:118743528-118743529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78310151	chr3:118743530-118743531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76383240	chr3:118743531-118743532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79235262	chr3:118743576-118743577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573653929	chr3:118743602-118743603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552938553	chr3:118743636-118743637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188813622	chr3:118743641-118743642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192899777	chr3:118743737-118743738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184808210	chr3:118743748-118743749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546373223	chr3:118743773-118743774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6809801	chr3:118743787-118743788	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs189273281	chr3:118743820-118743821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577071188	chr3:118743917-118743918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546023717	chr3:118743934-118743935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543723239	chr3:118743955-118743956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561767755	chr3:118743972-118743973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529226022	chr3:118743992-118743993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367769788	chr3:118743994-118743995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149633470	chr3:118744029-118744030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144406706	chr3:118744072-118744073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533224681	chr3:118744075-118744076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191353433	chr3:118744089-118744090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561612408	chr3:118744109-118744110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183526633	chr3:118744179-118744180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189585906	chr3:118744201-118744202	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs530753405	chr3:118744241-118744242	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs181131688	chr3:118744248-118744249	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs57954657	chr3:118744314-118744315	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118736600-118744400	Enhancers	Brain Cingulate Gyrus	brain
2	chr3:118738400-118744000	Weak transcription	A549	lung
3	chr3:118738600-118744200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:118739200-118744200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:118739200-118744400	Enhancers	Brain Anterior Caudate	brain
6	chr3:118739400-118753000	Weak transcription	Pancreas	Pancrea
7	chr3:118739600-118750400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:118740000-118750400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:118740400-118743200	Enhancers	Brain Hippocampus Middle	brain
10	chr3:118741200-118744000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:118741600-118743000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr3:118742000-118745200	Weak transcription	Brain Angular Gyrus	brain
13	chr3:118742000-118751200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:118742400-118743400	Active TSS	Ovary	ovary
15	chr3:118742400-118743600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:118742600-118743000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:118742600-118744400	Enhancers	Brain Substantia Nigra	brain
18	chr3:118742800-118743200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr3:118742800-118743400	Enhancers	Brain Germinal Matrix	brain
20	chr3:118743000-118744200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:118743000-118745200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr3:118743200-118744200	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:118743200-118751000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr3:118743400-118749400	Weak transcription	Ovary	ovary
25	chr3:118743600-118749400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:118744000-118744200	Enhancers	A549	lung
27	chr3:118744000-118746400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:118744200-118744400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:118744200-118744400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:118744200-118744400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr3:118744200-118744600	Enhancers	Brain Hippocampus Middle	brain
32	chr3:118744200-118744600	Flanking Active TSS	A549	lung
33	chr3:118744400-118745200	Weak transcription	Brain Substantia Nigra	brain
34	chr3:118744400-118746000	Weak transcription	Brain Anterior Caudate	brain
35	chr3:118744400-118747800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:118744400-118751400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:118744600-118744800	Enhancers	A549	lung
38	chr3:118744600-118745600	Weak transcription	Brain Hippocampus Middle	brain
39	chr3:118745200-118745600	Enhancers	Brain Angular Gyrus	brain
40	chr3:118745200-118745600	Enhancers	Brain Substantia Nigra	brain
41	chr3:118745200-118747000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr3:118745600-118747400	Enhancers	Brain Hippocampus Middle	brain
43	chr3:118745600-118748000	Weak transcription	Brain Substantia Nigra	brain
44	chr3:118745600-118748200	Weak transcription	Brain Angular Gyrus	brain
45	chr3:118746000-118747600	Enhancers	Brain Anterior Caudate	brain
46	chr3:118746400-118751000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:118747000-118748000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr3:118747400-118747800	Weak transcription	Brain Hippocampus Middle	brain
49	chr3:118747600-118748000	Weak transcription	Brain Anterior Caudate	brain
50	chr3:118747800-118748400	Enhancers	Brain Cingulate Gyrus	brain

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