Variant report

Variant	nsv1007690
Chromosome Location	chr3:113572815-113620612
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:224)
CpG islands
(count:428)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:224 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:113613793-113614046	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:113592645-113593092	HepG2	liver:	n/a	n/a
3	CBX3	chr3:113598730-113599055	K562	blood:	n/a	n/a
4	CEBPB	chr3:113617811-113618163	H1-hESC	embryonic stem cell:	n/a	chr3:113617980-113617991 chr3:113617982-113617991
5	CEBPB	chr3:113583800-113584036	A549	lung:	n/a	chr3:113583925-113583936
6	CEBPB	chr3:113576517-113576704	HepG2	liver:	n/a	n/a
7	CEBPB	chr3:113617825-113618142	K562	blood:	n/a	chr3:113617980-113617991 chr3:113617982-113617991
8	CEBPB	chr3:113617801-113618158	A549	lung:	n/a	chr3:113617980-113617991 chr3:113617982-113617991
9	CEBPB	chr3:113617816-113618166	HepG2	liver:	n/a	chr3:113617980-113617991 chr3:113617982-113617991
10	CEBPB	chr3:113617789-113618176	IMR90	lung:	n/a	chr3:113617980-113617991 chr3:113617982-113617991
11	CEBPB	chr3:113583765-113584065	HepG2	liver:	n/a	chr3:113583925-113583936
12	CEBPB	chr3:113609114-113609530	MCF-7	breast:	n/a	n/a
13	CEBPB	chr3:113592722-113593062	HepG2	liver:	n/a	chr3:113592898-113592909 chr3:113592919-113592930
14	CEBPB	chr3:113617843-113618107	A549	lung:	n/a	chr3:113617980-113617991 chr3:113617982-113617991
15	CEBPB	chr3:113617756-113618171	Hela-S3	cervix:	n/a	chr3:113617980-113617991 chr3:113617982-113617991
16	CTCF	chr3:113609280-113609430	GM12878	blood:	n/a	n/a
17	CTCF	chr3:113609240-113609390	Caco-2	colon:	n/a	n/a
18	CTCF	chr3:113609065-113609541	MCF-7	breast:	n/a	n/a
19	CTCF	chr3:113609220-113609370	HEK293	kidney:	n/a	n/a
20	CTCF	chr3:113609180-113609330	NHEK	skin:	n/a	n/a
21	CTCF	chr3:113609220-113609370	HCT-116	colon:	n/a	n/a
22	CTCF	chr3:113609280-113609430	GM06990	blood:	n/a	n/a
23	CTCF	chr3:113609260-113609410	Caco-2	colon:	n/a	n/a
24	CTCF	chr3:113609160-113609310	GM12873	blood:	n/a	n/a
25	CTCF	chr3:113609220-113609370	HepG2	liver:	n/a	n/a
26	CTCF	chr3:113609261-113609401	Medullo	brain:	n/a	n/a
27	CTCF	chr3:113609280-113609430	K562	blood:	n/a	n/a
28	CTCF	chr3:113609280-113609430	GM12872	blood:	n/a	n/a
29	CTCF	chr3:113609220-113609370	GM12871	blood:	n/a	n/a
30	CTCF	chr3:113609273-113609358	GM10266	blood:	n/a	n/a
31	CTCF	chr3:113609240-113609390	MCF-7	breast:	n/a	n/a
32	CTCF	chr3:113609240-113609390	NHEK	skin:	n/a	n/a
33	CTCF	chr3:113609234-113609399	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr3:113609200-113609350	GM12872	blood:	n/a	n/a
35	CTCF	chr3:113609280-113609430	GM12875	blood:	n/a	n/a
36	CTCF	chr3:113609149-113609474	K562	blood:	n/a	n/a
37	CTCF	chr3:113609240-113609414	HepG2	liver:	n/a	n/a
38	CTCF	chr3:113609220-113609370	GM12870	blood:	n/a	n/a
39	CTCF	chr3:113609280-113609430	MCF-7	breast:	n/a	n/a
40	CTCF	chr3:113609197-113609399	A549	lung:	n/a	n/a
41	CTCF	chr3:113609140-113609290	AG04449	skin:	n/a	n/a
42	CTCF	chr3:113609160-113609310	RPTEC	kidney:	n/a	n/a
43	CTCF	chr3:113609166-113609407	GM19239	blood:	n/a	n/a
44	CTCF	chr3:113609260-113609410	GM12864	blood:	n/a	n/a
45	CTCF	chr3:113609148-113609495	GM12878	blood:	n/a	n/a
46	CTCF	chr3:113609202-113609379	Fibrobl	skin:	n/a	n/a
47	CTCF	chr3:113609204-113609414	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr3:113582580-113582730	GM12872	blood:	n/a	n/a
49	CTCF	chr3:113609200-113609350	GM12864	blood:	n/a	n/a
50	CTCF	chr3:113609240-113609390	HepG2	liver:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:113603874-113603924	SKMC	muscle:	n/a
2	chr3:113603874-113603924	SKMC	muscle:	n/a
3	chr3:113603874-113603924	Caco-2	colon:	n/a
4	chr3:113604183-113604233	U87	brain:	n/a
5	chr3:113604183-113604233	AG10803	skin:	n/a
6	chr3:113604392-113604442	SK-N-MC	brain:	n/a
7	chr3:113606269-113606319	Hepatocyte	liver:	n/a
8	chr3:113603874-113603924	PANC-1	pancreas:	n/a
9	chr3:113604241-113604291	PANC-1	pancreas:	n/a
10	chr3:113603874-113603924	AG09319	gingival:	n/a
11	chr3:113603874-113603924	HMEC	breast:	n/a
12	chr3:113603874-113603924	GM19239	blood:	n/a
13	chr3:113603874-113603924	GM12892	blood:	n/a
14	chr3:113603874-113603924	BE2_C	brain:	n/a
15	chr3:113603874-113603924	MCF-7	breast:	n/a
16	chr3:113599916-113599966	HRPEpiC	eye:	n/a
17	chr3:113602333-113602383	HAEpiC	amniotic membrane:	n/a
18	chr3:113599916-113599966	HNPCEpiC	eye:	n/a
19	chr3:113604392-113604442	HEK293	kidney:	embryo
20	chr3:113602333-113602383	GM19239	blood:	n/a
21	chr3:113602333-113602383	MCF-7	breast:	n/a
22	chr3:113599916-113599966	GM12891	blood:	n/a
23	chr3:113602333-113602383	SK-N-MC	brain:	n/a
24	chr3:113604241-113604291	Jurkat	blood:	n/a
25	chr3:113602333-113602383	HCF	heart:	n/a
26	chr3:113602333-113602383	AG04450	lung:	fetal
27	chr3:113599916-113599966	HUVEC	blood vessel:	n/a
28	chr3:113604183-113604233	NHBE	bronchial:	n/a
29	chr3:113602333-113602383	SAEC	small airway:	n/a
30	chr3:113606269-113606319	AG04449	skin:	fetal
31	chr3:113603874-113603924	AG04449	skin:	fetal
32	chr3:113604241-113604291	AG04449	skin:	fetal
33	chr3:113604183-113604233	HEEpiC	esophagus:	n/a
34	chr3:113604183-113604233	HRCEpiC	kidney:	n/a
35	chr3:113604241-113604291	GM06990	blood:	n/a
36	chr3:113604392-113604442	HEEpiC	esophagus:	n/a
37	chr3:113606269-113606319	T-47D	breast:	n/a
38	chr3:113599916-113599966	HepG2	liver:	n/a
39	chr3:113604183-113604233	GM06990	blood:	n/a
40	chr3:113604392-113604442	HUVEC	blood vessel:	n/a
41	chr3:113603874-113603924	HUVEC	blood vessel:	n/a
42	chr3:113604392-113604442	NH-A	brain:	n/a
43	chr3:113599916-113599966	HL-60	blood:	n/a
44	chr3:113604392-113604442	BJ	skin:	n/a
45	chr3:113606269-113606319	HCT-116	colon:	n/a
46	chr3:113604392-113604442	HRE	kidney:	n/a
47	chr3:113603874-113603924	PFSK-1	brain:	n/a
48	chr3:113599916-113599966	PANC-1	pancreas:	n/a
49	chr3:113604241-113604291	HNPCEpiC	eye:	n/a
50	chr3:113599916-113599966	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:113608263..113610778-chr3:113614290..113616255,2	MCF-7	breast:
2	chr3:113613642..113617289-chr3:113619230..113622663,4	K562	blood:
3	chr3:113615024..113616556-chr3:113664464..113667228,2	MCF-7	breast:
4	chr3:113607843..113610621-chr3:113612739..113615522,2	K562	blood:
5	chr3:113464701..113467422-chr3:113608653..113611479,2	K562	blood:
6	chr3:113612373..113614219-chr3:113615941..113617468,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1A-2	chr3:113594331-113594714	NONHSAT091246
2	lnc-ATP6V1A-2	chr3:113588354-113588438	NONHSAT091246

No data

Variant related genes	Relation type
ENSG00000240776	TF binding region
GRAMD1C	TF binding region
ENSG00000241889	TF binding region
ENSG00000240776	CpG island
GRAMD1C	CpG island
ENSG00000241889	CpG island
ENSG00000184307	chromatin interactions
ENSG00000178075	chromatin interactions
ENSG00000114573	chromatin interactions
ENSG00000242659	chromatin interactions
ENSG00000273394	chromatin interactions
ENSG00000121579	chromatin interactions

Extended variants
information (count: 1413 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1413 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199937862	chr3:113572819-113572820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147496655	chr3:113572846-113572847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148558656	chr3:113572852-113572853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574272493	chr3:113572880-113572881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535385386	chr3:113572939-113572940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2712333	chr3:113572949-113572950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568238593	chr3:113572976-113572977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190942641	chr3:113572977-113572978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531970469	chr3:113572989-113572990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550758133	chr3:113572990-113572991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74612893	chr3:113573000-113573001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540283569	chr3:113573069-113573070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117667616	chr3:113573077-113573078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564081542	chr3:113573133-113573134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576084117	chr3:113573169-113573170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200484366	chr3:113573178-113573179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543097626	chr3:113573182-113573183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142997692	chr3:113573185-113573186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561589255	chr3:113573198-113573199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151112828	chr3:113573205-113573206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567438261	chr3:113573244-113573245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573450119	chr3:113573246-113573247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs66482840	chr3:113573273-113573274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs559398845	chr3:113573306-113573307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181893298	chr3:113573326-113573327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139708875	chr3:113573346-113573347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143560955	chr3:113573356-113573357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7646432	chr3:113573437-113573438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531064776	chr3:113573484-113573485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549492694	chr3:113573556-113573557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567713448	chr3:113573559-113573560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371803087	chr3:113573562-113573563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146821146	chr3:113573582-113573583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186918883	chr3:113573654-113573655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113213653	chr3:113573731-113573732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144781678	chr3:113573809-113573810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557503033	chr3:113573830-113573831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575623648	chr3:113573885-113573886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145590617	chr3:113573892-113573893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555048361	chr3:113573908-113573909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557916289	chr3:113573918-113573919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369123243	chr3:113573976-113573977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573362546	chr3:113573984-113573985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540886643	chr3:113574017-113574018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559473540	chr3:113574049-113574050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191210401	chr3:113574064-113574065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs736360	chr3:113574081-113574082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs549003632	chr3:113574131-113574132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183087024	chr3:113574263-113574264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549354814	chr3:113574293-113574294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	19805367	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113558600-113574800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:113569200-113574400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:113577400-113577800	Enhancers	Psoas Muscle	Psoas
4	chr3:113583000-113598800	Weak transcription	Aorta	Aorta
5	chr3:113586000-113587000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:113586200-113586800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:113586200-113587400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:113586200-113587400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:113586200-113587400	Enhancers	NHEK	skin
10	chr3:113586200-113587600	Enhancers	HMEC	breast
11	chr3:113586400-113587400	Enhancers	HUVEC	blood vessel
12	chr3:113586600-113586800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr3:113586600-113587400	Enhancers	Osteobl	bone
14	chr3:113586800-113597800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:113587600-113606000	Weak transcription	Brain Anterior Caudate	brain
16	chr3:113588200-113598200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:113588600-113592000	Weak transcription	Fetal Intestine Small	intestine
18	chr3:113590200-113590400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:113590800-113604200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:113592000-113592600	Enhancers	Fetal Intestine Small	intestine
21	chr3:113592000-113593000	Enhancers	Liver	Liver
22	chr3:113592200-113594200	Enhancers	Fetal Intestine Large	intestine
23	chr3:113592200-113594200	Enhancers	HepG2	liver
24	chr3:113592600-113593000	Weak transcription	Fetal Intestine Small	intestine
25	chr3:113593000-113593200	Enhancers	Fetal Kidney	kidney
26	chr3:113593000-113593600	Flanking Active TSS	Liver	Liver
27	chr3:113593000-113593600	Enhancers	Fetal Intestine Small	intestine
28	chr3:113593200-113603000	Weak transcription	Fetal Kidney	kidney
29	chr3:113593600-113594800	Enhancers	Liver	Liver
30	chr3:113593600-113609400	Weak transcription	Fetal Intestine Small	intestine
31	chr3:113594000-113595200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr3:113594800-113598000	Weak transcription	Liver	Liver
33	chr3:113597800-113598400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:113598000-113598400	Enhancers	Liver	Liver
35	chr3:113598200-113598400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:113598200-113604000	Weak transcription	Dnd41	blood
37	chr3:113598400-113602000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:113598400-113602600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:113600400-113612600	Weak transcription	HUVEC	blood vessel
40	chr3:113601400-113603600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:113601400-113606400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:113602000-113602400	ZNF genes & repeats	Left Ventricle	heart
43	chr3:113602000-113602600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:113602000-113604000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:113602600-113603000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:113602600-113603200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
47	chr3:113602800-113606800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr3:113602800-113607000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr3:113603000-113603200	ZNF genes & repeats	Fetal Kidney	kidney
50	chr3:113603200-113603600	Weak transcription	Fetal Kidney	kidney

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