Variant report

Variant	nsv965148
Chromosome Location	chr3:22421613-22424357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:22423219-22423304	GM20000	blood:	n/a	n/a
2	CTCF	chr3:22423241-22423280	GM10266	blood:	n/a	n/a
3	EBF1	chr3:22424046-22424270	GM12878	blood:	n/a	n/a
4	EP300	chr3:22423723-22423883	GM12878	blood:	n/a	n/a
5	EP300	chr3:22423426-22423825	GM12878	blood:	n/a	n/a
6	HEY1	chr3:22423128-22423390	HepG2	liver:	n/a	n/a
7	HEY1	chr3:22423055-22423431	K562	blood:	n/a	n/a
8	HEY1	chr3:22423108-22423473	K562	blood:	n/a	n/a
9	HEY1	chr3:22424050-22424300	K562	blood:	n/a	n/a
10	HEY1	chr3:22423554-22423899	K562	blood:	n/a	n/a
11	HEY1	chr3:22423164-22423365	HepG2	liver:	n/a	n/a
12	POLR2A	chr3:22423152-22423394	A549	lung:	n/a	n/a
13	POLR2A	chr3:22422957-22423437	MCF-7	breast:	n/a	n/a
14	POLR2A	chr3:22423231-22423261	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr3:22423982-22424361	GM12878	blood:	n/a	n/a
16	POLR2A	chr3:22423228-22423431	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr3:22423160-22423390	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr3:22423142-22423937	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr3:22423167-22423305	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr3:22422972-22424003	GM12892	blood:	n/a	n/a
21	POLR2A	chr3:22422960-22423487	GM12891	blood:	n/a	n/a
22	POLR2A	chr3:22423131-22423466	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr3:22423031-22423275	GM12878	blood:	n/a	n/a
24	POLR2A	chr3:22423036-22423487	ProgFib	skin:	n/a	n/a
25	POLR2A	chr3:22423071-22423298	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr3:22424035-22424291	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr3:22423101-22423390	GM12891	blood:	n/a	n/a
28	POLR2A	chr3:22422988-22423349	Gliobla	brain:	n/a	n/a
29	POLR2A	chr3:22422993-22423397	K562	blood:	n/a	n/a
30	POLR2A	chr3:22423138-22423321	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr3:22422962-22423417	MCF-7	breast:	n/a	n/a
32	POLR2A	chr3:22423090-22423451	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr3:22422961-22423444	MCF-7	breast:	n/a	n/a
34	POLR2A	chr3:22423172-22423341	HepG2	liver:	n/a	n/a
35	POLR2A	chr3:22423087-22423372	HepG2	liver:	n/a	n/a
36	POLR2A	chr3:22422998-22423773	GM12891	blood:	n/a	n/a
37	POLR2A	chr3:22423182-22423335	A549	lung:	n/a	n/a
38	POLR2A	chr3:22422997-22423346	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr3:22423163-22423316	HepG2	liver:	n/a	n/a
40	POLR2A	chr3:22423122-22423471	GM12892	blood:	n/a	n/a
41	POLR2A	chr3:22422947-22424489	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr3:22423140-22423938	GM12891	blood:	n/a	n/a
43	POLR2A	chr3:22423179-22423293	HepG2	liver:	n/a	n/a
44	POLR2A	chr3:22423561-22423787	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr3:22423188-22423301	A549	lung:	n/a	n/a
46	POLR2A	chr3:22423110-22423819	GM12878	blood:	n/a	n/a
47	POLR2A	chr3:22423138-22423353	GM12878	blood:	n/a	n/a
48	POLR2A	chr3:22423054-22423275	A549	lung:	n/a	n/a
49	POLR2A	chr3:22423091-22424012	GM12892	blood:	n/a	n/a
50	POLR2A	chr3:22423082-22423390	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:22422855-22422905	SK-N-SH	brain:	n/a
2	chr3:22423260-22423310	IMR90	lung:	fetal
3	chr3:22423260-22423310	K562	blood:	n/a
4	chr3:22422855-22422905	Hela-S3	cervix:	n/a
5	chr3:22422855-22422905	HCM	heart:	n/a
6	chr3:22422855-22422905	T-47D	breast:	n/a
7	chr3:22423260-22423310	HEK293	kidney:	embryo
8	chr3:22422855-22422905	AG10803	skin:	n/a
9	chr3:22423260-22423310	HCPEpiC	choroid plexus:	n/a
10	chr3:22423260-22423310	GM06990	blood:	n/a
11	chr3:22423260-22423310	HUVEC	blood vessel:	n/a
12	chr3:22423260-22423310	AoSMC	blood vessel:	n/a
13	chr3:22422855-22422905	SK-N-SH_RA	brain:	n/a
14	chr3:22422855-22422905	GM12892	blood:	n/a
15	chr3:22422855-22422905	HCPEpiC	choroid plexus:	n/a
16	chr3:22422855-22422905	HIPEpiC	eye:	n/a
17	chr3:22422855-22422905	HRCEpiC	kidney:	n/a
18	chr3:22422855-22422905	HCF	heart:	n/a
19	chr3:22422855-22422905	K562	blood:	n/a
20	chr3:22423260-22423310	HNPCEpiC	eye:	n/a
21	chr3:22423260-22423310	SAEC	small airway:	n/a
22	chr3:22423260-22423310	Caco-2	colon:	n/a
23	chr3:22422855-22422905	GM12891	blood:	n/a
24	chr3:22423260-22423310	U87	brain:	n/a
25	chr3:22423260-22423310	NT2-D1	testis:	n/a
26	chr3:22423260-22423310	H1-hESC	embryonic stem cell:	embryo
27	chr3:22423260-22423310	ovcar-3	ovarian:	n/a
28	chr3:22422855-22422905	Caco-2	colon:	n/a
29	chr3:22423260-22423310	NHBE	bronchial:	n/a
30	chr3:22423260-22423310	Hela-S3	cervix:	n/a
31	chr3:22422855-22422905	BJ	skin:	n/a
32	chr3:22423260-22423310	SKMC	muscle:	n/a
33	chr3:22422855-22422905	BE2_C	brain:	n/a
34	chr3:22422855-22422905	IMR90	lung:	fetal
35	chr3:22423260-22423310	HPAEpiC	pulmonary alveolar:	n/a
36	chr3:22423260-22423310	RPTEC	kidney:	n/a
37	chr3:22423260-22423310	CMK	blood:	n/a
38	chr3:22422855-22422905	MCF-7	breast:	n/a
39	chr3:22422855-22422905	HUVEC	blood vessel:	n/a
40	chr3:22422855-22422905	GM12878	blood:	n/a
41	chr3:22422855-22422905	AG04450	lung:	fetal
42	chr3:22423260-22423310	HRE	kidney:	n/a
43	chr3:22422855-22422905	Jurkat	blood:	n/a
44	chr3:22423260-22423310	HepG2	liver:	n/a
45	chr3:22423260-22423310	SK-N-SH	brain:	n/a
46	chr3:22422855-22422905	PFSK-1	brain:	n/a
47	chr3:22422855-22422905	NH-A	brain:	n/a
48	chr3:22422855-22422905	HNPCEpiC	eye:	n/a
49	chr3:22423260-22423310	ProgFib	skin:	n/a
50	chr3:22423260-22423310	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:22420213..22422752-chr3:22425859..22427632,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2E2-6	chr3:22424046-22424420	NONHSAT088657

No data

Variant related genes	Relation type
HMGB1P5	TF binding region
HMGB1P5	CpG island

Extended variants
information (count: 75 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147040849	chr3:22421807-22421808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62247342	chr3:22421812-22421813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533247479	chr3:22421864-22421865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552567953	chr3:22421868-22421869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535479590	chr3:22421897-22421898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535157791	chr3:22421932-22421933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553148482	chr3:22421943-22421944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373195490	chr3:22421949-22421950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12629017	chr3:22421958-22421959	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114505169	chr3:22421959-22421960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3762777	chr3:22421971-22421972	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs3762778	chr3:22422207-22422208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs115944622	chr3:22422212-22422213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73144166	chr3:22422229-22422230	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs9310692	chr3:22422272-22422273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs35999639	chr3:22422286-22422287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564512340	chr3:22422290-22422291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528426924	chr3:22422302-22422303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546709160	chr3:22422305-22422306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9310693	chr3:22422334-22422335	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187969493	chr3:22422335-22422336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541015776	chr3:22422337-22422338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199672442	chr3:22422348-22422349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550810652	chr3:22422391-22422392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3749374	chr3:22422856-22422857	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569440899	chr3:22422894-22422895	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs139762619	chr3:22422954-22422955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs369972381	chr3:22423018-22423019	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs534471367	chr3:22423035-22423036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs555447127	chr3:22423038-22423039	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs563638050	chr3:22423044-22423045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs77815321	chr3:22423051-22423052	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs537945665	chr3:22423061-22423062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs3749375	chr3:22423131-22423132	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577789614	chr3:22423132-22423133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs544840947	chr3:22423138-22423139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs143128570	chr3:22423140-22423141	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs146672077	chr3:22423146-22423147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs542504312	chr3:22423153-22423154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs183587857	chr3:22423165-22423166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs571063209	chr3:22423166-22423167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs529203844	chr3:22423177-22423178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs539626184	chr3:22423194-22423195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs544324045	chr3:22423241-22423242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs4597736	chr3:22423244-22423245	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567045371	chr3:22423245-22423246	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs551717800	chr3:22423251-22423252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs11546132	chr3:22423260-22423261	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs535857213	chr3:22423264-22423265	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs549654258	chr3:22423267-22423268	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22421800-22422000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:22422200-22422400	Enhancers	Fetal Lung	lung

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