Variant report

Variant	nsv877216
Chromosome Location	chr3:99065296-99161022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:449)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:449 , 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	ATF2	chr3:99126018-99126540	GM12878	blood:	n/a	n/a
2	ATF2	chr3:99129459-99130103	GM12878	blood:	n/a	n/a
3	ATF2	chr3:99149054-99150131	GM12878	blood:	n/a	n/a
4	ATF2	chr3:99136767-99138323	GM12878	blood:	n/a	n/a
5	ATF2	chr3:99129338-99130149	GM12878	blood:	n/a	n/a
6	ATF2	chr3:99149199-99150075	GM12878	blood:	n/a	n/a
7	ATF2	chr3:99136810-99138372	GM12878	blood:	n/a	n/a
8	BATF	chr3:99149216-99150020	GM12878	blood:	n/a	n/a
9	BATF	chr3:99129502-99129964	GM12878	blood:	n/a	n/a
10	BATF	chr3:99072300-99072544	GM12878	blood:	n/a	n/a
11	BATF	chr3:99149710-99149973	GM12878	blood:	n/a	n/a
12	BATF	chr3:99137044-99137371	GM12878	blood:	n/a	n/a
13	BATF	chr3:99136983-99137472	GM12878	blood:	n/a	n/a
14	BATF	chr3:99137541-99137961	GM12878	blood:	n/a	n/a
15	BATF	chr3:99126158-99126394	GM12878	blood:	n/a	n/a
16	BCL11A	chr3:99136984-99137417	GM12878	blood:	n/a	n/a
17	BCL11A	chr3:99126152-99126384	GM12878	blood:	n/a	chr3:99126235-99126244
18	BCL11A	chr3:99129594-99129774	GM12878	blood:	n/a	n/a
19	BCL11A	chr3:99137498-99137995	GM12878	blood:	n/a	n/a
20	BCL11A	chr3:99129498-99129865	GM12878	blood:	n/a	n/a
21	BCL11A	chr3:99149570-99150010	GM12878	blood:	n/a	n/a
22	BCL3	chr3:99149673-99150009	GM12878	blood:	n/a	n/a
23	BCL3	chr3:99137532-99138039	GM12878	blood:	n/a	n/a
24	BCL3	chr3:99129441-99130174	GM12878	blood:	n/a	n/a
25	BCL3	chr3:99136862-99138301	GM12878	blood:	n/a	n/a
26	BCL3	chr3:99148357-99148693	GM12878	blood:	n/a	n/a
27	BCL3	chr3:99136963-99137433	GM12878	blood:	n/a	n/a
28	BCLAF1	chr3:99149130-99149899	GM12878	blood:	n/a	n/a
29	BCLAF1	chr3:99129345-99129962	GM12878	blood:	n/a	chr3:99129396-99129405
30	BCLAF1	chr3:99136885-99138150	GM12878	blood:	n/a	n/a
31	BHLHE40	chr3:99129734-99130066	GM12878	blood:	n/a	n/a
32	BHLHE40	chr3:99149656-99149994	GM12878	blood:	n/a	n/a
33	BHLHE40	chr3:99137014-99138061	GM12878	blood:	n/a	n/a
34	CCNT2	chr3:99147673-99147878	K562	blood:	n/a	n/a
35	CEBPB	chr3:99117853-99118145	H1-hESC	embryonic stem cell:	n/a	chr3:99118036-99118047
36	CEBPB	chr3:99114275-99114566	HepG2	liver:	n/a	chr3:99114427-99114438
37	CEBPB	chr3:99114272-99114604	A549	lung:	n/a	chr3:99114427-99114438
38	CEBPB	chr3:99086397-99086505	A549	lung:	n/a	n/a
39	CEBPB	chr3:99114265-99114620	Hela-S3	cervix:	n/a	chr3:99114427-99114438
40	CEBPB	chr3:99148377-99148811	ECC-1	luminal epithelium:	n/a	chr3:99148751-99148763
41	CEBPB	chr3:99117898-99118190	A549	lung:	n/a	chr3:99118036-99118047
42	CEBPB	chr3:99065401-99065667	IMR90	lung:	n/a	n/a
43	CEBPB	chr3:99114284-99114534	ECC-1	luminal epithelium:	n/a	chr3:99114427-99114438
44	CEBPB	chr3:99136899-99138265	GM12878	blood:	n/a	chr3:99137859-99137870
45	CEBPB	chr3:99114210-99114616	A549	lung:	n/a	chr3:99114427-99114438
46	CEBPB	chr3:99117178-99117436	HepG2	liver:	n/a	chr3:99117263-99117274 chr3:99117310-99117321
47	CEBPB	chr3:99159128-99159304	IMR90	lung:	n/a	n/a
48	CEBPB	chr3:99117200-99117402	IMR90	lung:	n/a	chr3:99117263-99117274 chr3:99117310-99117321
49	CEBPB	chr3:99115820-99116020	IMR90	lung:	n/a	n/a
50	CEBPB	chr3:99089065-99089121	HepG2	liver:	n/a	chr3:99089075-99089086

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:99113136-99113186	HRE	kidney:	n/a
2	chr3:99113136-99113186	AG09309	skin:	n/a
3	chr3:99113136-99113186	AG04450	lung:	fetal
4	chr3:99113136-99113186	AG09319	gingival:	n/a
5	chr3:99113136-99113186	PFSK-1	brain:	n/a
6	chr3:99113136-99113186	SAEC	small airway:	n/a
7	chr3:99113136-99113186	MCF-7	breast:	n/a
8	chr3:99113136-99113186	GM19239	blood:	n/a
9	chr3:99113136-99113186	U87	brain:	n/a
10	chr3:99113136-99113186	HAEpiC	amniotic membrane:	n/a
11	chr3:99113136-99113186	HRPEpiC	eye:	n/a
12	chr3:99113136-99113186	HEEpiC	esophagus:	n/a
13	chr3:99113136-99113186	Jurkat	blood:	n/a
14	chr3:99113136-99113186	SK-N-SH_RA	brain:	n/a
15	chr3:99113136-99113186	NHDF-neo	bronchial:	n/a
16	chr3:99113136-99113186	SK-N-SH	brain:	n/a
17	chr3:99113136-99113186	HepG2	liver:	n/a
18	chr3:99113136-99113186	AG04449	skin:	fetal
19	chr3:99113136-99113186	PANC-1	pancreas:	n/a
20	chr3:99113136-99113186	BE2_C	brain:	n/a
21	chr3:99113136-99113186	HPAEpiC	pulmonary alveolar:	n/a
22	chr3:99113136-99113186	GM12878	blood:	n/a
23	chr3:99113136-99113186	GM12891	blood:	n/a
24	chr3:99113136-99113186	T-47D	breast:	n/a
25	chr3:99113136-99113186	HIPEpiC	eye:	n/a
26	chr3:99113136-99113186	HCM	heart:	n/a
27	chr3:99113136-99113186	AoSMC	blood vessel:	n/a
28	chr3:99113136-99113186	H1-hESC	embryonic stem cell:	embryo
29	chr3:99113136-99113186	SKMC	muscle:	n/a
30	chr3:99113136-99113186	A549	lung:	n/a
31	chr3:99113136-99113186	HMEC	breast:	n/a
32	chr3:99113136-99113186	HNPCEpiC	eye:	n/a
33	chr3:99113136-99113186	CMK	blood:	n/a
34	chr3:99113136-99113186	IMR90	lung:	fetal
35	chr3:99113136-99113186	NHBE	bronchial:	n/a
36	chr3:99113136-99113186	HCF	heart:	n/a
37	chr3:99113136-99113186	HUVEC	blood vessel:	n/a
38	chr3:99113136-99113186	NB4	blood:	n/a
39	chr3:99113136-99113186	K562	blood:	n/a
40	chr3:99113136-99113186	Hela-S3	cervix:	n/a
41	chr3:99113136-99113186	AG10803	skin:	n/a
42	chr3:99113136-99113186	Caco-2	colon:	n/a
43	chr3:99113136-99113186	LNCaP	prostate:	n/a
44	chr3:99113136-99113186	HCT-116	colon:	n/a
45	chr3:99113136-99113186	HL-60	blood:	n/a
46	chr3:99113136-99113186	NH-A	brain:	n/a
47	chr3:99113136-99113186	SK-N-MC	brain:	n/a
48	chr3:99113136-99113186	PrEC	prostate:	n/a
49	chr3:99113136-99113186	ProgFib	skin:	n/a
50	chr3:99113136-99113186	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:99075499..99077922-chr3:99083475..99085918,2	K562	blood:
2	chr3:99087839..99089975-chr3:99109906..99112170,2	K562	blood:
3	chr3:33332155..33332655-chr3:99159710..99160214,2	Hela-S3	cervix:
4	chr3:99087839..99089975-chr3:99109906..99112170,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL8A1-9	chr3:99076197-99076504	expReg_chr3_6662_+
2	lnc-COL8A1-7	chr3:99077254-99078457	expReg_chr3_6666_+
3	lnc-COL8A1-8	chr3:99076755-99077211	expReg_chr3_6665_+
4	lnc-COL8A1-10	chr3:99065727-99066181	l_2411_chr3:99023559-99073456_placenta
5	lnc-COL8A1-10	chr3:99073376-99074955	l_2411_chr3:99023559-99073456_placenta

No data

Variant related genes	Relation type
ENSG00000266030	TF binding region
ENSG00000266030	CpG island
ENSG00000266030	chromatin interactions

Extended variants
information (count: 3451 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:3451 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140305232	chr3:99065753-99065754	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs7652265	chr3:99065791-99065792	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs202015352	chr3:99065803-99065804	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs537538112	chr3:99065804-99065805	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs137992714	chr3:99065812-99065813	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs567986333	chr3:99065814-99065815	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs142092238	chr3:99065847-99065848	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs553424794	chr3:99065872-99065873	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs577474718	chr3:99065888-99065889	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs545666817	chr3:99065914-99065915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs72938321	chr3:99065932-99065933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs374323846	chr3:99065956-99065957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs575868548	chr3:99065983-99065984	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs192868619	chr3:99066006-99066007	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs184199883	chr3:99066028-99066029	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs145855743	chr3:99066099-99066100	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs540603186	chr3:99066107-99066108	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs560212961	chr3:99066121-99066122	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs192316577	chr3:99066808-99066809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183659465	chr3:99066832-99066833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575930489	chr3:99066848-99066849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544754817	chr3:99066865-99066866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563693713	chr3:99066885-99066886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554796434	chr3:99066912-99066913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570766243	chr3:99066918-99066919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372173625	chr3:99066921-99066922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144777773	chr3:99066930-99066931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574852356	chr3:99066967-99066968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373789746	chr3:99066990-99066991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368554546	chr3:99067034-99067035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2246232	chr3:99067059-99067060	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs34661986	chr3:99067090-99067091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560529969	chr3:99067106-99067107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1871798	chr3:99067114-99067115	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs545694690	chr3:99067117-99067118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200871919	chr3:99067138-99067139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138690272	chr3:99067145-99067146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2246153	chr3:99067150-99067151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs1871797	chr3:99067167-99067168	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565672289	chr3:99067177-99067178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561680190	chr3:99067188-99067189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527373056	chr3:99067213-99067214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142695442	chr3:99067222-99067223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1871796	chr3:99067233-99067234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs1871795	chr3:99067252-99067253	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532823612	chr3:99067253-99067254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376536688	chr3:99067304-99067305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144392343	chr3:99067344-99067345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200715237	chr3:99067358-99067359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78548225	chr3:99067366-99067367	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99066800-99067800	Enhancers	HUVEC	blood vessel
2	chr3:99070000-99070400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:99070000-99070400	Enhancers	Adipose Nuclei	Adipose
4	chr3:99070000-99071000	Enhancers	NHDF-Ad	bronchial
5	chr3:99073800-99075200	Enhancers	HUVEC	blood vessel
6	chr3:99075200-99084200	Weak transcription	HUVEC	blood vessel
7	chr3:99076200-99077400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:99079000-99084200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:99083600-99085000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:99084000-99085200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:99084200-99085000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:99084200-99085200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:99084200-99085200	Enhancers	NHDF-Ad	bronchial
14	chr3:99084200-99085400	Enhancers	Osteobl	bone
15	chr3:99084200-99085600	Enhancers	HUVEC	blood vessel
16	chr3:99084400-99085000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:99091600-99094000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:99091800-99092600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:99091800-99093400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:99091800-99093800	Enhancers	Osteobl	bone
21	chr3:99092000-99092600	Enhancers	NHDF-Ad	bronchial
22	chr3:99092200-99092800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:99092200-99093600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:99092400-99092600	Enhancers	NHLF	lung
25	chr3:99092400-99093000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:99092600-99112600	Weak transcription	NHLF	lung
27	chr3:99093000-99093400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:99095200-99095800	Active TSS	Spleen	Spleen
29	chr3:99095400-99095800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:99095400-99096000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:99095800-99099800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:99096000-99096200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:99098000-99102800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:99099800-99100000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:99102600-99105600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr3:99102800-99103400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:99103000-99103600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:99103000-99104200	Enhancers	NHDF-Ad	bronchial
39	chr3:99103200-99103600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:99103200-99103600	Enhancers	HSMM	muscle
41	chr3:99103200-99103600	Enhancers	NHEK	skin
42	chr3:99103200-99103800	Enhancers	Osteobl	bone
43	chr3:99103200-99104000	Enhancers	HUVEC	blood vessel
44	chr3:99103600-99105000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:99103600-99105200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:99103800-99107200	Weak transcription	Osteobl	bone
47	chr3:99104000-99107600	Weak transcription	HUVEC	blood vessel
48	chr3:99104200-99104600	Weak transcription	NHDF-Ad	bronchial
49	chr3:99104600-99105200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:99104600-99105600	Enhancers	NHDF-Ad	bronchial

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