Variant report

Variant	esv2756473
Chromosome Location	chr3:113586310-113614310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:159)
CpG islands
(count:427)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:159 , 50 per page) page: 1 2 3 4

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	chr3:113609114-113609530	MCF-7	breast:	n/a	n/a
5	CEBPB	chr3:113592722-113593062	HepG2	liver:	n/a	chr3:113592898-113592909 chr3:113592919-113592930
6	CTCF	chr3:113609260-113609410	GM12868	blood:	n/a	n/a
7	CTCF	chr3:113609149-113609474	K562	blood:	n/a	n/a
8	CTCF	chr3:113609280-113609430	K562	blood:	n/a	n/a
9	CTCF	chr3:113609240-113609390	MCF-7	breast:	n/a	n/a
10	CTCF	chr3:113609190-113609416	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr3:113609220-113609370	HepG2	liver:	n/a	n/a
12	CTCF	chr3:113609240-113609390	HepG2	liver:	n/a	n/a
13	CTCF	chr3:113609200-113609350	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr3:113609200-113609350	GM12867	blood:	n/a	n/a
15	CTCF	chr3:113609273-113609358	GM10266	blood:	n/a	n/a
16	CTCF	chr3:113609280-113609430	GM12875	blood:	n/a	n/a
17	CTCF	chr3:113609204-113609414	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr3:113609261-113609401	Medullo	brain:	n/a	n/a
19	CTCF	chr3:113609243-113609383	GM19240	blood:	n/a	n/a
20	CTCF	chr3:113609180-113609330	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr3:113609149-113609452	MCF-7	breast:	n/a	n/a
22	CTCF	chr3:113609065-113609541	MCF-7	breast:	n/a	n/a
23	CTCF	chr3:113609200-113609350	GM12874	blood:	n/a	n/a
24	CTCF	chr3:113609227-113609410	Gliobla	brain:	n/a	n/a
25	CTCF	chr3:113609234-113609399	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr3:113609220-113609370	SAEC	small airway:	n/a	n/a
27	CTCF	chr3:113609166-113609407	GM19239	blood:	n/a	n/a
28	CTCF	chr3:113609200-113609350	AG04449	skin:	n/a	n/a
29	CTCF	chr3:113609180-113609330	NHEK	skin:	n/a	n/a
30	CTCF	chr3:113609200-113609350	GM12872	blood:	n/a	n/a
31	CTCF	chr3:113609160-113609310	RPTEC	kidney:	n/a	n/a
32	CTCF	chr3:113609160-113609310	BE2_C	brain:	n/a	n/a
33	CTCF	chr3:113609200-113609350	GM12873	blood:	n/a	n/a
34	CTCF	chr3:113609298-113609342	ProgFib	skin:	n/a	n/a
35	CTCF	chr3:113609200-113609350	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr3:113609177-113609444	HepG2	liver:	n/a	n/a
37	CTCF	chr3:113609232-113609403	GM19238	blood:	n/a	n/a
38	CTCF	chr3:113609240-113609390	NHEK	skin:	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	chr3:113609360-113609510	HFF-Myc	foreskin:	n/a	n/a
42	CTCF	chr3:113609164-113609451	MCF-7	breast:	n/a	n/a
43	CTCF	chr3:113609188-113609432	NHEK	skin:	n/a	n/a
44	CTCF	chr3:113609260-113609410	GM12864	blood:	n/a	n/a
45	CTCF	chr3:113609260-113609410	NB4	blood:	n/a	n/a
46	CTCF	chr3:113609200-113609350	GM12864	blood:	n/a	n/a
47	CTCF	chr3:113609214-113609402	A549	lung:	n/a	n/a
48	CTCF	chr3:113609148-113609495	GM12878	blood:	n/a	n/a
49	CTCF	chr3:113609148-113609439	MCF-7	breast:	n/a	n/a
50	CTCF	chr3:113609220-113609370	BE2_C	brain:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:113599916-113599966	GM19239	blood:	n/a
2	chr3:113604241-113604291	Hela-S3	cervix:	n/a
3	chr3:113603874-113603924	NT2-D1	testis:	n/a
4	chr3:113602333-113602383	SK-N-SH	brain:	n/a
5	chr3:113599916-113599966	PFSK-1	brain:	n/a
6	chr3:113604392-113604442	AG09309	skin:	n/a
7	chr3:113599916-113599966	H1-hESC	embryonic stem cell:	embryo
8	chr3:113604392-113604442	RPTEC	kidney:	n/a
9	chr3:113602333-113602383	ECC-1	luminal epithelium:	n/a
10	chr3:113604183-113604233	GM19239	blood:	n/a
11	chr3:113604183-113604233	HCF	heart:	n/a
12	chr3:113603874-113603924	HAEpiC	amniotic membrane:	n/a
13	chr3:113603874-113603924	HUVEC	blood vessel:	n/a
14	chr3:113602333-113602383	SAEC	small airway:	n/a
15	chr3:113604392-113604442	HCPEpiC	choroid plexus:	n/a
16	chr3:113603874-113603924	MCF10A-Er-Src	breast:	n/a
17	chr3:113603874-113603924	HCT-116	colon:	n/a
18	chr3:113603874-113603924	HNPCEpiC	eye:	n/a
19	chr3:113604392-113604442	SK-N-SH	brain:	n/a
20	chr3:113604392-113604442	HIPEpiC	eye:	n/a
21	chr3:113603874-113603924	GM06990	blood:	n/a
22	chr3:113599916-113599966	ovcar-3	ovarian:	n/a
23	chr3:113604183-113604233	HCT-116	colon:	n/a
24	chr3:113604392-113604442	MCF-7	breast:	n/a
25	chr3:113604241-113604291	NH-A	brain:	n/a
26	chr3:113604392-113604442	NT2-D1	testis:	n/a
27	chr3:113604241-113604291	CMK	blood:	n/a
28	chr3:113606269-113606319	U87	brain:	n/a
29	chr3:113604392-113604442	LNCaP	prostate:	n/a
30	chr3:113604392-113604442	AG09319	gingival:	n/a
31	chr3:113599916-113599966	SKMC	muscle:	n/a
32	chr3:113606269-113606319	SK-N-SH	brain:	n/a
33	chr3:113602333-113602383	CMK	blood:	n/a
34	chr3:113604183-113604233	HRPEpiC	eye:	n/a
35	chr3:113599916-113599966	LNCaP	prostate:	n/a
36	chr3:113606269-113606319	RPTEC	kidney:	n/a
37	chr3:113603874-113603924	HMEC	breast:	n/a
38	chr3:113603874-113603924	HEK293	kidney:	embryo
39	chr3:113606269-113606319	GM12878	blood:	n/a
40	chr3:113602333-113602383	HIPEpiC	eye:	n/a
41	chr3:113602333-113602383	AG09319	gingival:	n/a
42	chr3:113603874-113603924	NHBE	bronchial:	n/a
43	chr3:113604241-113604291	NT2-D1	testis:	n/a
44	chr3:113602333-113602383	HEK293	kidney:	embryo
45	chr3:113603874-113603924	AG04449	skin:	fetal
46	chr3:113602333-113602383	MCF10A-Er-Src	breast:	n/a
47	chr3:113599916-113599966	AG10803	skin:	n/a
48	chr3:113599916-113599966	NHDF-neo	bronchial:	n/a
49	chr3:113604392-113604442	AoSMC	blood vessel:	n/a
50	chr3:113604241-113604291	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:113607843..113610621-chr3:113612739..113615522,2	K562	blood:
2	chr3:113608263..113610778-chr3:113614290..113616255,2	MCF-7	breast:
3	chr3:113612373..113614219-chr3:113615941..113617468,2	MCF-7	breast:
4	chr3:113464701..113467422-chr3:113608653..113611479,2	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
ENSG00000121579	chromatin interactions
ENSG00000178075	chromatin interactions
ENSG00000114573	chromatin interactions
ENSG00000242659	chromatin interactions

Extended variants
information (count: 1016 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1016 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150944277	chr3:113586428-113586429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529226807	chr3:113586434-113586435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547765504	chr3:113586435-113586436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34319125	chr3:113586443-113586444	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs183169206	chr3:113586444-113586445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140698453	chr3:113586478-113586479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4682505	chr3:113586487-113586488	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs2712364	chr3:113586501-113586502	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543726611	chr3:113586508-113586509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139967043	chr3:113586510-113586511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187378607	chr3:113586603-113586604	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150123658	chr3:113586611-113586612	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553714972	chr3:113586728-113586729	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4682506	chr3:113586776-113586777	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs559093766	chr3:113586789-113586790	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191783643	chr3:113586842-113586843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549741495	chr3:113586880-113586881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146686407	chr3:113587008-113587009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567835391	chr3:113587015-113587016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112145891	chr3:113587018-113587019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371232701	chr3:113587092-113587093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145750311	chr3:113587131-113587132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529378572	chr3:113587143-113587144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76385403	chr3:113587355-113587356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559762399	chr3:113587400-113587401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs36098262	chr3:113587407-113587408	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs113972129	chr3:113587479-113587480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114246669	chr3:113587526-113587527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545133390	chr3:113587646-113587647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570370694	chr3:113587664-113587665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565065880	chr3:113587679-113587680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550411961	chr3:113587739-113587740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151145302	chr3:113587827-113587828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549548042	chr3:113587842-113587843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567799946	chr3:113587878-113587879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535515549	chr3:113587935-113587936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368495539	chr3:113587952-113587953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553475020	chr3:113588043-113588044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527458403	chr3:113588053-113588054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182581430	chr3:113588072-113588073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539056471	chr3:113588096-113588097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557585655	chr3:113588098-113588099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576283956	chr3:113588114-113588115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543390945	chr3:113588159-113588160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149652612	chr3:113588272-113588273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538758082	chr3:113588323-113588324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201700492	chr3:113588357-113588358	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs1469559	chr3:113588445-113588446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs149464871	chr3:113588488-113588489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541486779	chr3:113588505-113588506	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113583000-113598800	Weak transcription	Aorta	Aorta
2	chr3:113586000-113587000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:113586200-113586800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:113586200-113587400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:113586200-113587400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:113586200-113587400	Enhancers	NHEK	skin
7	chr3:113586200-113587600	Enhancers	HMEC	breast
8	chr3:113586400-113587400	Enhancers	HUVEC	blood vessel
9	chr3:113586600-113586800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr3:113586600-113587400	Enhancers	Osteobl	bone
11	chr3:113586800-113597800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:113587600-113606000	Weak transcription	Brain Anterior Caudate	brain
13	chr3:113588200-113598200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:113588600-113592000	Weak transcription	Fetal Intestine Small	intestine
15	chr3:113590200-113590400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:113590800-113604200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:113592000-113592600	Enhancers	Fetal Intestine Small	intestine
18	chr3:113592000-113593000	Enhancers	Liver	Liver
19	chr3:113592200-113594200	Enhancers	Fetal Intestine Large	intestine
20	chr3:113592200-113594200	Enhancers	HepG2	liver
21	chr3:113592600-113593000	Weak transcription	Fetal Intestine Small	intestine
22	chr3:113593000-113593200	Enhancers	Fetal Kidney	kidney
23	chr3:113593000-113593600	Flanking Active TSS	Liver	Liver
24	chr3:113593000-113593600	Enhancers	Fetal Intestine Small	intestine
25	chr3:113593200-113603000	Weak transcription	Fetal Kidney	kidney
26	chr3:113593600-113594800	Enhancers	Liver	Liver
27	chr3:113593600-113609400	Weak transcription	Fetal Intestine Small	intestine
28	chr3:113594000-113595200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr3:113594800-113598000	Weak transcription	Liver	Liver
30	chr3:113597800-113598400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:113598000-113598400	Enhancers	Liver	Liver
32	chr3:113598200-113598400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:113598200-113604000	Weak transcription	Dnd41	blood
34	chr3:113598400-113602000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:113598400-113602600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:113600400-113612600	Weak transcription	HUVEC	blood vessel
37	chr3:113601400-113603600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:113601400-113606400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:113602000-113602400	ZNF genes & repeats	Left Ventricle	heart
40	chr3:113602000-113602600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:113602000-113604000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:113602600-113603000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:113602600-113603200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr3:113602800-113606800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr3:113602800-113607000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:113603000-113603200	ZNF genes & repeats	Fetal Kidney	kidney
47	chr3:113603200-113603600	Weak transcription	Fetal Kidney	kidney
48	chr3:113603200-113606000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:113603200-113614400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:113603600-113604800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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