Variant report

Variant	nsv591304
Chromosome Location	chr3:113576614-113619872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:223)
CpG islands
(count:428)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:223 , 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	chr3:113583800-113584036	A549	lung:	n/a	chr3:113583925-113583936
5	CEBPB	chr3:113617825-113618142	K562	blood:	n/a	chr3:113617980-113617991 chr3:113617982-113617991
6	CEBPB	chr3:113617789-113618176	IMR90	lung:	n/a	chr3:113617980-113617991 chr3:113617982-113617991
7	CEBPB	chr3:113583765-113584065	HepG2	liver:	n/a	chr3:113583925-113583936
8	CEBPB	chr3:113609114-113609530	MCF-7	breast:	n/a	n/a
9	CEBPB	chr3:113617811-113618163	H1-hESC	embryonic stem cell:	n/a	chr3:113617980-113617991 chr3:113617982-113617991
10	CEBPB	chr3:113576517-113576704	HepG2	liver:	n/a	n/a
11	CEBPB	chr3:113592722-113593062	HepG2	liver:	n/a	chr3:113592898-113592909 chr3:113592919-113592930
12	CEBPB	chr3:113617816-113618166	HepG2	liver:	n/a	chr3:113617980-113617991 chr3:113617982-113617991
13	CEBPB	chr3:113617801-113618158	A549	lung:	n/a	chr3:113617980-113617991 chr3:113617982-113617991
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	chr3:113609065-113609541	MCF-7	breast:	n/a	n/a
17	CTCF	chr3:113609160-113609310	BE2_C	brain:	n/a	n/a
18	CTCF	chr3:113609240-113609390	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr3:113609149-113609474	K562	blood:	n/a	n/a
20	CTCF	chr3:113609240-113609390	MCF-7	breast:	n/a	n/a
21	CTCF	chr3:113609280-113609430	GM12878	blood:	n/a	n/a
22	CTCF	chr3:113609180-113609330	BJ	skin:	n/a	n/a
23	CTCF	chr3:113609149-113609452	MCF-7	breast:	n/a	n/a
24	CTCF	chr3:113582540-113582690	HepG2	liver:	n/a	n/a
25	CTCF	chr3:113609200-113609350	GM12873	blood:	n/a	n/a
26	CTCF	chr3:113609200-113609350	GM12872	blood:	n/a	n/a
27	CTCF	chr3:113609240-113609390	Caco-2	colon:	n/a	n/a
28	CTCF	chr3:113609200-113609350	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr3:113609200-113609350	GM12874	blood:	n/a	n/a
30	CTCF	chr3:113609234-113609399	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr3:113609260-113609410	GM12868	blood:	n/a	n/a
32	CTCF	chr3:113609180-113609330	NHEK	skin:	n/a	n/a
33	CTCF	chr3:113609279-113609384	GM12878	blood:	n/a	n/a
34	CTCF	chr3:113609180-113609330	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr3:113609220-113609370	HCT-116	colon:	n/a	n/a
36	CTCF	chr3:113609220-113609370	HEK293	kidney:	n/a	n/a
37	CTCF	chr3:113609200-113609350	GM12867	blood:	n/a	n/a
38	CTCF	chr3:113609200-113609406	GM12892	blood:	n/a	n/a
39	CTCF	chr3:113609240-113609414	HepG2	liver:	n/a	n/a
40	CTCF	chr3:113609204-113609414	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr3:113609261-113609401	Medullo	brain:	n/a	n/a
42	CTCF	chr3:113609260-113609410	GM12873	blood:	n/a	n/a
43	CTCF	chr3:113609202-113609379	Fibrobl	skin:	n/a	n/a
44	CTCF	chr3:113609166-113609407	GM19239	blood:	n/a	n/a
45	CTCF	chr3:113609227-113609410	Gliobla	brain:	n/a	n/a
46	CTCF	chr3:113609200-113609350	GM12865	blood:	n/a	n/a
47	CTCF	chr3:113609260-113609410	RPTEC	kidney:	n/a	n/a
48	CTCF	chr3:113609280-113609430	GM12872	blood:	n/a	n/a
49	CTCF	chr3:113609200-113609350	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr3:113609160-113609310	GM12873	blood:	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	chr3:113606269-113606319	HepG2	liver:	n/a
2	chr3:113606269-113606319	HepG2	liver:	n/a
3	chr3:113604392-113604442	LNCaP	prostate:	n/a
4	chr3:113603874-113603924	ovcar-3	ovarian:	n/a
5	chr3:113603874-113603924	NB4	blood:	n/a
6	chr3:113599916-113599966	GM19239	blood:	n/a
7	chr3:113602333-113602383	HEK293	kidney:	embryo
8	chr3:113602333-113602383	HUVEC	blood vessel:	n/a
9	chr3:113603874-113603924	ECC-1	luminal epithelium:	n/a
10	chr3:113604241-113604291	NHDF-neo	bronchial:	n/a
11	chr3:113604183-113604233	HCF	heart:	n/a
12	chr3:113604183-113604233	HPAEpiC	pulmonary alveolar:	n/a
13	chr3:113604392-113604442	HRCEpiC	kidney:	n/a
14	chr3:113604183-113604233	CMK	blood:	n/a
15	chr3:113606269-113606319	SAEC	small airway:	n/a
16	chr3:113603874-113603924	HEEpiC	esophagus:	n/a
17	chr3:113606269-113606319	A549	lung:	n/a
18	chr3:113599916-113599966	HepG2	liver:	n/a
19	chr3:113603874-113603924	A549	lung:	n/a
20	chr3:113604241-113604291	HPAEpiC	pulmonary alveolar:	n/a
21	chr3:113602333-113602383	GM12878	blood:	n/a
22	chr3:113604392-113604442	GM06990	blood:	n/a
23	chr3:113603874-113603924	ProgFib	skin:	n/a
24	chr3:113604183-113604233	HNPCEpiC	eye:	n/a
25	chr3:113602333-113602383	MCF-7	breast:	n/a
26	chr3:113606269-113606319	NT2-D1	testis:	n/a
27	chr3:113602333-113602383	HEEpiC	esophagus:	n/a
28	chr3:113599916-113599966	PrEC	prostate:	n/a
29	chr3:113602333-113602383	U87	brain:	n/a
30	chr3:113602333-113602383	HCM	heart:	n/a
31	chr3:113599916-113599966	IMR90	lung:	fetal
32	chr3:113604392-113604442	PFSK-1	brain:	n/a
33	chr3:113603874-113603924	K562	blood:	n/a
34	chr3:113604241-113604291	PANC-1	pancreas:	n/a
35	chr3:113604241-113604291	NT2-D1	testis:	n/a
36	chr3:113606269-113606319	PANC-1	pancreas:	n/a
37	chr3:113604392-113604442	HUVEC	blood vessel:	n/a
38	chr3:113604241-113604291	SKMC	muscle:	n/a
39	chr3:113602333-113602383	LNCaP	prostate:	n/a
40	chr3:113606269-113606319	HRE	kidney:	n/a
41	chr3:113603874-113603924	HRE	kidney:	n/a
42	chr3:113604241-113604291	GM12891	blood:	n/a
43	chr3:113603874-113603924	HNPCEpiC	eye:	n/a
44	chr3:113604241-113604291	K562	blood:	n/a
45	chr3:113604241-113604291	HUVEC	blood vessel:	n/a
46	chr3:113604183-113604233	GM12892	blood:	n/a
47	chr3:113604183-113604233	Hela-S3	cervix:	n/a
48	chr3:113604183-113604233	HIPEpiC	eye:	n/a
49	chr3:113599916-113599966	HEEpiC	esophagus:	n/a
50	chr3:113604241-113604291	HNPCEpiC	eye:	n/a

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

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

(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
GRAMD1C	TF binding region
ENSG00000241889	TF binding region
GRAMD1C	CpG island
ENSG00000241889	CpG island
ENSG00000242659	chromatin interactions
ENSG00000184307	chromatin interactions
ENSG00000114573	chromatin interactions
ENSG00000178075	chromatin interactions
ENSG00000273394	chromatin interactions
ENSG00000121579	chromatin interactions

Extended variants
information (count: 1321 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1321 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545876987	chr3:113577408-113577409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540763912	chr3:113577488-113577489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546522645	chr3:113577520-113577521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564512839	chr3:113577521-113577522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576743742	chr3:113577544-113577545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191532356	chr3:113577569-113577570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529323746	chr3:113577648-113577649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146144917	chr3:113577658-113577659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529678359	chr3:113577670-113577671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147495086	chr3:113577682-113577683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547883980	chr3:113577710-113577711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372272546	chr3:113577721-113577722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527585828	chr3:113577764-113577765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561932512	chr3:113577796-113577797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529334296	chr3:113577797-113577798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546277035	chr3:113583014-113583015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376184030	chr3:113583016-113583017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571307455	chr3:113583017-113583018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187333646	chr3:113583081-113583082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556587751	chr3:113583121-113583122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569045078	chr3:113583122-113583123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536073776	chr3:113583148-113583149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578104833	chr3:113583152-113583153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143078102	chr3:113583177-113583178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578156196	chr3:113583251-113583252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371756430	chr3:113583252-113583253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573260160	chr3:113583255-113583256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540767584	chr3:113583256-113583257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576129936	chr3:113583258-113583259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138984951	chr3:113583304-113583305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191739234	chr3:113583305-113583306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183821140	chr3:113583386-113583387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2632252	chr3:113583437-113583438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189258821	chr3:113583500-113583501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2712361	chr3:113583507-113583508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114034275	chr3:113583509-113583510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1271411	chr3:113583541-113583542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560428569	chr3:113583549-113583550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534214355	chr3:113583551-113583552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368460029	chr3:113583552-113583553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35780165	chr3:113583553-113583554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193124712	chr3:113583554-113583555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546752288	chr3:113583562-113583563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35658586	chr3:113583606-113583607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142119870	chr3:113583644-113583645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72952687	chr3:113583646-113583647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550860178	chr3:113583672-113583673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2129572	chr3:113583678-113583679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569181068	chr3:113583688-113583689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13088638	chr3:113583749-113583750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113577400-113577800	Enhancers	Psoas Muscle	Psoas
2	chr3:113583000-113598800	Weak transcription	Aorta	Aorta
3	chr3:113586000-113587000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:113586200-113586800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:113586200-113587400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:113586200-113587400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:113586200-113587400	Enhancers	NHEK	skin
8	chr3:113586200-113587600	Enhancers	HMEC	breast
9	chr3:113586400-113587400	Enhancers	HUVEC	blood vessel
10	chr3:113586600-113586800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr3:113586600-113587400	Enhancers	Osteobl	bone
12	chr3:113586800-113597800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:113587600-113606000	Weak transcription	Brain Anterior Caudate	brain
14	chr3:113588200-113598200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:113588600-113592000	Weak transcription	Fetal Intestine Small	intestine
16	chr3:113590200-113590400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:113590800-113604200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:113592000-113592600	Enhancers	Fetal Intestine Small	intestine
19	chr3:113592000-113593000	Enhancers	Liver	Liver
20	chr3:113592200-113594200	Enhancers	Fetal Intestine Large	intestine
21	chr3:113592200-113594200	Enhancers	HepG2	liver
22	chr3:113592600-113593000	Weak transcription	Fetal Intestine Small	intestine
23	chr3:113593000-113593200	Enhancers	Fetal Kidney	kidney
24	chr3:113593000-113593600	Flanking Active TSS	Liver	Liver
25	chr3:113593000-113593600	Enhancers	Fetal Intestine Small	intestine
26	chr3:113593200-113603000	Weak transcription	Fetal Kidney	kidney
27	chr3:113593600-113594800	Enhancers	Liver	Liver
28	chr3:113593600-113609400	Weak transcription	Fetal Intestine Small	intestine
29	chr3:113594000-113595200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr3:113594800-113598000	Weak transcription	Liver	Liver
31	chr3:113597800-113598400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:113598000-113598400	Enhancers	Liver	Liver
33	chr3:113598200-113598400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:113598200-113604000	Weak transcription	Dnd41	blood
35	chr3:113598400-113602000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:113598400-113602600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:113600400-113612600	Weak transcription	HUVEC	blood vessel
38	chr3:113601400-113603600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:113601400-113606400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:113602000-113602400	ZNF genes & repeats	Left Ventricle	heart
41	chr3:113602000-113602600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr3:113602000-113604000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:113602600-113603000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:113602600-113603200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr3:113602800-113606800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr3:113602800-113607000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr3:113603000-113603200	ZNF genes & repeats	Fetal Kidney	kidney
48	chr3:113603200-113603600	Weak transcription	Fetal Kidney	kidney
49	chr3:113603200-113606000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:113603200-113614400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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