Variant report

Variant	nsv999530
Chromosome Location	chr3:46780078-46847604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr3:46792308-46792631	K562	blood:	n/a	n/a
2	ATF3	chr3:46792267-46792609	K562	blood:	n/a	n/a
3	BATF	chr3:46834950-46835224	GM12878	blood:	n/a	n/a
4	BATF	chr3:46834909-46835249	GM12878	blood:	n/a	n/a
5	BCL11A	chr3:46834834-46835220	GM12878	blood:	n/a	n/a
6	BHLHE40	chr3:46798309-46798511	K562	blood:	n/a	n/a
7	BHLHE40	chr3:46792161-46792741	K562	blood:	n/a	chr3:46792470-46792479 chr3:46792470-46792479
8	CBX3	chr3:46805384-46805615	K562	blood:	n/a	n/a
9	CBX3	chr3:46792069-46792673	K562	blood:	n/a	n/a
10	CBX3	chr3:46798157-46798548	K562	blood:	n/a	n/a
11	CCNT2	chr3:46792259-46792508	K562	blood:	n/a	n/a
12	CEBPB	chr3:46839064-46839245	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr3:46780721-46781004	HepG2	liver:	n/a	n/a
14	CEBPB	chr3:46780720-46780724	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr3:46798208-46798651	K562	blood:	n/a	n/a
16	CHD2	chr3:46798433-46798503	HepG2	liver:	n/a	n/a
17	CTCF	chr3:46798336-46798412	H1-hESC	embryonic stem cell:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
18	CTCF	chr3:46798280-46798430	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
19	CTCF	chr3:46798034-46798529	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
20	CTCF	chr3:46801730-46801825	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr3:46798300-46798450	HepG2	liver:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
22	CTCF	chr3:46846100-46846250	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr3:46846080-46846230	NHEK	skin:	n/a	n/a
24	CTCF	chr3:46792360-46792510	K562	blood:	n/a	chr3:46792393-46792409 chr3:46792392-46792410 chr3:46792397-46792410 chr3:46792394-46792407
25	CTCF	chr3:46794500-46794650	GM12872	blood:	n/a	n/a
26	CTCF	chr3:46794460-46794610	GM06990	blood:	n/a	n/a
27	CTCF	chr3:46792356-46792487	K562	blood:	n/a	chr3:46792393-46792409 chr3:46792392-46792410 chr3:46792397-46792410 chr3:46792394-46792407
28	CTCF	chr3:46794616-46794658	GM19240	blood:	n/a	n/a
29	CTCF	chr3:46794500-46794650	GM12866	blood:	n/a	n/a
30	CTCF	chr3:46792209-46792538	K562	blood:	n/a	chr3:46792393-46792409 chr3:46792392-46792410 chr3:46792397-46792410 chr3:46792234-46792247 chr3:46792394-46792407
31	CTCF	chr3:46794460-46794610	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr3:46819600-46819750	GM12873	blood:	n/a	n/a
33	CTCF	chr3:46792287-46792555	K562	blood:	n/a	chr3:46792393-46792409 chr3:46792392-46792410 chr3:46792397-46792410 chr3:46792394-46792407
34	CTCF	chr3:46798400-46798550	HVMF	connective:	n/a	n/a
35	CTCF	chr3:46798280-46798435	HepG2	liver:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
36	CTCF	chr3:46794500-46794650	GM12873	blood:	n/a	n/a
37	CTCF	chr3:46792152-46792625	K562	blood:	n/a	chr3:46792393-46792409 chr3:46792392-46792410 chr3:46792397-46792410 chr3:46792234-46792247 chr3:46792394-46792407
38	CTCF	chr3:46846120-46846270	MCF-7	breast:	n/a	n/a
39	CTCF	chr3:46794560-46794710	HCT-116	colon:	n/a	n/a
40	CTCF	chr3:46798300-46798450	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
41	CTCF	chr3:46798359-46798450	LNCaP	prostate:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
42	CTCF	chr3:46798156-46798539	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
43	CTCF	chr3:46798354-46798408	Gliobla	brain:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
44	CTCF	chr3:46794360-46794510	GM12873	blood:	n/a	n/a
45	CTCF	chr3:46798134-46798571	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
46	CTCF	chr3:46794600-46794750	GM12875	blood:	n/a	n/a
47	CTCF	chr3:46794520-46794670	GM12864	blood:	n/a	n/a
48	CTCF	chr3:46846160-46846310	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr3:46798136-46798509	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
50	CTCF	chr3:46846140-46846290	HCPEpiC	choroid plexus:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46797928-46797978	GM12878	blood:	n/a
2	chr3:46797928-46797978	GM12878	blood:	n/a
3	chr3:46797928-46797978	A549	lung:	n/a
4	chr3:46785957-46786007	NHDF-neo	bronchial:	n/a
5	chr3:46796026-46796076	ovcar-3	ovarian:	n/a
6	chr3:46785957-46786007	NT2-D1	testis:	n/a
7	chr3:46785957-46786007	GM12892	blood:	n/a
8	chr3:46791477-46791527	Caco-2	colon:	n/a
9	chr3:46789735-46789785	GM06990	blood:	n/a
10	chr3:46792192-46792242	AG09309	skin:	n/a
11	chr3:46792364-46792414	Caco-2	colon:	n/a
12	chr3:46792357-46792407	AG04449	skin:	fetal
13	chr3:46801208-46801258	BJ	skin:	n/a
14	chr3:46790182-46790232	PrEC	prostate:	n/a
15	chr3:46785957-46786007	HCT-116	colon:	n/a
16	chr3:46798240-46798290	RPTEC	kidney:	n/a
17	chr3:46786238-46786288	NHDF-neo	bronchial:	n/a
18	chr3:46792023-46792073	GM12891	blood:	n/a
19	chr3:46792023-46792073	T-47D	breast:	n/a
20	chr3:46796026-46796076	HIPEpiC	eye:	n/a
21	chr3:46796026-46796076	SAEC	small airway:	n/a
22	chr3:46791477-46791527	H1-hESC	embryonic stem cell:	embryo
23	chr3:46786387-46786437	Hepatocyte	liver:	n/a
24	chr3:46801208-46801258	NT2-D1	testis:	n/a
25	chr3:46792357-46792407	SK-N-SH	brain:	n/a
26	chr3:46792357-46792407	U87	brain:	n/a
27	chr3:46792357-46792407	HCT-116	colon:	n/a
28	chr3:46796026-46796076	AG09319	gingival:	n/a
29	chr3:46792357-46792407	H1-hESC	embryonic stem cell:	embryo
30	chr3:46797928-46797978	AG04450	lung:	fetal
31	chr3:46789735-46789785	HAEpiC	amniotic membrane:	n/a
32	chr3:46796026-46796076	HepG2	liver:	n/a
33	chr3:46796026-46796076	AG10803	skin:	n/a
34	chr3:46792192-46792242	HRCEpiC	kidney:	n/a
35	chr3:46792462-46792512	ECC-1	luminal epithelium:	n/a
36	chr3:46786238-46786288	ProgFib	skin:	n/a
37	chr3:46786387-46786437	H1-hESC	embryonic stem cell:	embryo
38	chr3:46799010-46799060	HEK293	kidney:	embryo
39	chr3:46797928-46797978	PrEC	prostate:	n/a
40	chr3:46791477-46791527	RPTEC	kidney:	n/a
41	chr3:46792192-46792242	Hepatocyte	liver:	n/a
42	chr3:46799010-46799060	H1-hESC	embryonic stem cell:	embryo
43	chr3:46794154-46794204	HCM	heart:	n/a
44	chr3:46790182-46790232	SK-N-MC	brain:	n/a
45	chr3:46792364-46792414	GM12878	blood:	n/a
46	chr3:46792364-46792414	SKMC	muscle:	n/a
47	chr3:46792023-46792073	GM06990	blood:	n/a
48	chr3:46792462-46792512	Hela-S3	cervix:	n/a
49	chr3:46786238-46786288	AG04450	lung:	fetal
50	chr3:46792192-46792242	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:46776204..46778019-chr3:46778181..46780158,2	K562	blood:
2	chr3:46764632..46767218-chr3:46782393..46785331,2	K562	blood:
3	chr3:46803507..46806312-chr3:46807817..46810409,2	K562	blood:
4	chr3:46789981..46792010-chr3:46794604..46797550,3	K562	blood:
5	chr3:46796204..46798578-chr3:46800470..46803401,3	K562	blood:
6	chr3:46780631..46782178-chr3:46786371..46787877,2	K562	blood:
7	chr3:46780314..46782174-chr3:46791450..46793098,2	K562	blood:
8	chr3:46789981..46792010-chr3:46794604..46797550,3	K562	blood:
9	chr3:46783774..46785518-chr3:46915413..46918248,2	MCF-7	breast:
10	chr3:46774758..46775741-chr3:46797694..46798443,2	K562	blood:
11	chr3:46780631..46782178-chr3:46786371..46787877,2	K562	blood:
12	chr3:46796974..46798578-chr3:46800470..46803376,2	K562	blood:
13	chr3:46720178..46722487-chr3:46787613..46789601,2	K562	blood:
14	chr3:46780314..46782174-chr3:46791450..46793098,2	K562	blood:
15	chr3:46796598..46799185-chr3:46799676..46801957,2	MCF-7	breast:
16	chr3:46788120..46791042-chr3:46798895..46800766,2	K562	blood:
17	chr3:46787160..46789838-chr3:46792836..46795181,2	K562	blood:
18	chr3:46787160..46789838-chr3:46792836..46795181,2	K562	blood:
19	chr3:46746227..46747136-chr3:46797879..46798830,2	K562	blood:
20	chr3:46819637..46822469-chr3:46912934..46914923,2	K562	blood:
21	chr3:46796204..46798578-chr3:46800470..46803401,3	K562	blood:
22	chr3:46803507..46806312-chr3:46807817..46810409,2	K562	blood:
23	chr3:46796974..46798578-chr3:46800470..46803376,2	K562	blood:
24	chr3:46798748..46799515-chr3:46907913..46908649,2	K562	blood:
25	chr3:46796598..46799185-chr3:46799676..46801957,2	MCF-7	breast:
26	chr3:46792775..46794351-chr3:46906387..46908133,2	K562	blood:
27	chr3:46785802..46787615-chr3:46790135..46792444,2	K562	blood:
28	chr3:46789741..46793223-chr3:46794604..46798425,5	K562	blood:
29	chr3:46783977..46786592-chr3:46791856..46793997,2	MCF-7	breast:
30	chr3:46789741..46793223-chr3:46794604..46798425,5	K562	blood:
31	chr3:46788120..46791042-chr3:46798895..46800766,2	K562	blood:
32	chr3:46847486..46849953-chr3:46878692..46880394,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRSS50-1	chr3:46795974-46796138	NONHSAT089457
2	lnc-PRSS50-1	chr3:46797532-46798119	NONHSAT089457
3	lnc-PTH1R-2	chr3:46839613-46839880	NONHSAT089458

Variant related genes	Relation type
ENSG00000238013	TF binding region
PRSS45	TF binding region
PRSS46	TF binding region
ENSG00000238013	CpG island
PRSS45	CpG island
PRSS46	CpG island
ENSG00000188086	chromatin interactions
ENSG00000261603	chromatin interactions

Extended variants
information (count: 1135 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1135 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151066377	chr3:46780215-46780216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13075068	chr3:46780228-46780229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571481752	chr3:46780270-46780271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562684474	chr3:46780279-46780280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6797748	chr3:46780303-46780304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs6808374	chr3:46780424-46780425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs78175662	chr3:46780451-46780452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9865136	chr3:46780519-46780520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570327654	chr3:46780525-46780526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58973116	chr3:46780547-46780548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs190915736	chr3:46780570-46780571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567947132	chr3:46780642-46780643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7652302	chr3:46780666-46780667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536697572	chr3:46780746-46780747	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs377567855	chr3:46780752-46780753	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs34063354	chr3:46780761-46780762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs370888989	chr3:46780793-46780794	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs554655367	chr3:46780803-46780804	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs146872469	chr3:46780837-46780838	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs112867019	chr3:46780875-46780876	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs539546234	chr3:46780925-46780926	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs184058439	chr3:46780932-46780933	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs113219602	chr3:46780981-46780982	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs188216837	chr3:46781013-46781014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562440393	chr3:46781031-46781032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573944188	chr3:46781065-46781066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544642065	chr3:46781093-46781094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562546598	chr3:46781105-46781106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6809112	chr3:46781151-46781152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs551481704	chr3:46781180-46781181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140736558	chr3:46781220-46781221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115507051	chr3:46781221-46781222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115394858	chr3:46781230-46781231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6801048	chr3:46781237-46781238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs61333746	chr3:46781282-46781283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs75876996	chr3:46781303-46781304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568889139	chr3:46781326-46781327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192053598	chr3:46781329-46781330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182985927	chr3:46781353-46781354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566938934	chr3:46781367-46781368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187114057	chr3:46781392-46781393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191229368	chr3:46781490-46781491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574229017	chr3:46781574-46781575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113823456	chr3:46781575-46781576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556109714	chr3:46781576-46781577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371852123	chr3:46781606-46781607	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs183516131	chr3:46781624-46781625	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs545082605	chr3:46781630-46781631	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs560253998	chr3:46781649-46781650	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs149192292	chr3:46781674-46781675	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46744000-46792200	Weak transcription	Right Atrium	heart
2	chr3:46769000-46792400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:46779200-46782000	Weak transcription	Left Ventricle	heart
4	chr3:46779400-46795400	Weak transcription	Spleen	Spleen
5	chr3:46779400-46799600	Weak transcription	Pancreas	Pancrea
6	chr3:46779600-46780400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:46779800-46792800	Weak transcription	Thymus	Thymus
8	chr3:46780800-46785000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:46784400-46785200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:46784400-46785200	Enhancers	Fetal Stomach	stomach
11	chr3:46784600-46785000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:46784600-46785000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:46784600-46785000	Enhancers	Placenta	Placenta
14	chr3:46784600-46785200	Enhancers	Fetal Lung	lung
15	chr3:46784600-46785200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr3:46784800-46785200	Enhancers	Fetal Intestine Small	intestine
17	chr3:46785000-46785200	Weak transcription	Placenta	Placenta
18	chr3:46785000-46785800	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:46785000-46786200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:46785000-46789800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:46785200-46785600	Enhancers	Placenta	Placenta
22	chr3:46785200-46799800	Weak transcription	Fetal Intestine Small	intestine
23	chr3:46785600-46789800	Weak transcription	Placenta	Placenta
24	chr3:46785800-46786200	Enhancers	GM12878-XiMat	blood
25	chr3:46785800-46795600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr3:46786200-46787800	Weak transcription	GM12878-XiMat	blood
27	chr3:46786400-46786600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:46787800-46789200	Enhancers	GM12878-XiMat	blood
29	chr3:46789200-46794200	Weak transcription	GM12878-XiMat	blood
30	chr3:46789600-46789800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:46789600-46790400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:46789600-46790400	Enhancers	Fetal Muscle Leg	muscle
33	chr3:46789800-46790000	Enhancers	Fetal Stomach	stomach
34	chr3:46789800-46790200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr3:46789800-46790400	Enhancers	Placenta	Placenta
36	chr3:46789800-46790600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:46790600-46791800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:46791800-46792400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:46792200-46792800	Flanking Bivalent TSS/Enh	K562	blood
40	chr3:46792400-46794200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr3:46792400-46797800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:46792800-46795000	Enhancers	Thymus	Thymus
43	chr3:46793400-46795200	Enhancers	Fetal Thymus	thymus
44	chr3:46793400-46800000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:46793800-46794200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:46794200-46795000	Enhancers	GM12878-XiMat	blood
47	chr3:46795000-46796000	Weak transcription	Thymus	Thymus
48	chr3:46795200-46796200	Weak transcription	Fetal Thymus	thymus
49	chr3:46795600-46798000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr3:46796000-46796800	Enhancers	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links