Variant report

Variant	esv3442215
Chromosome Location	chr3:46790997-46851918
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	chr3:46792161-46792741	K562	blood:	n/a	chr3:46792470-46792479 chr3:46792470-46792479
7	BHLHE40	chr3:46798309-46798511	K562	blood:	n/a	n/a
8	CBX3	chr3:46798157-46798548	K562	blood:	n/a	n/a
9	CBX3	chr3:46792069-46792673	K562	blood:	n/a	n/a
10	CBX3	chr3:46805384-46805615	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	CHD2	chr3:46798208-46798651	K562	blood:	n/a	n/a
14	CHD2	chr3:46798433-46798503	HepG2	liver:	n/a	n/a
15	CTCF	chr3:46850100-46850250	GM12864	blood:	n/a	chr3:46850217-46850226
16	CTCF	chr3:46798034-46798529	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
17	CTCF	chr3:46794600-46794750	GM12875	blood:	n/a	n/a
18	CTCF	chr3:46794500-46794650	GM12866	blood:	n/a	n/a
19	CTCF	chr3:46794360-46794510	GM12873	blood:	n/a	n/a
20	CTCF	chr3:46850080-46850230	GM12873	blood:	n/a	chr3:46850217-46850226
21	CTCF	chr3:46798300-46798450	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
22	CTCF	chr3:46792152-46792625	K562	blood:	n/a	chr3:46792393-46792409 chr3:46792392-46792410 chr3:46792397-46792410 chr3:46792234-46792247 chr3:46792394-46792407
23	CTCF	chr3:46846140-46846290	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr3:46798300-46798450	HepG2	liver:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
25	CTCF	chr3:46798336-46798412	H1-hESC	embryonic stem cell:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
26	CTCF	chr3:46846100-46846250	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr3:46798134-46798571	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
28	CTCF	chr3:46794560-46794710	HCT-116	colon:	n/a	n/a
29	CTCF	chr3:46792360-46792510	K562	blood:	n/a	chr3:46792393-46792409 chr3:46792392-46792410 chr3:46792397-46792410 chr3:46792394-46792407
30	CTCF	chr3:46846120-46846270	MCF-7	breast:	n/a	n/a
31	CTCF	chr3:46798359-46798450	LNCaP	prostate:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
32	CTCF	chr3:46792287-46792555	K562	blood:	n/a	chr3:46792393-46792409 chr3:46792392-46792410 chr3:46792397-46792410 chr3:46792394-46792407
33	CTCF	chr3:46798354-46798408	Gliobla	brain:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
34	CTCF	chr3:46794460-46794610	GM06990	blood:	n/a	n/a
35	CTCF	chr3:46801730-46801825	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr3:46798280-46798435	HepG2	liver:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
37	CTCF	chr3:46798156-46798539	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
38	CTCF	chr3:46798400-46798550	HVMF	connective:	n/a	n/a
39	CTCF	chr3:46797989-46798564	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
40	CTCF	chr3:46798280-46798430	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
41	CTCF	chr3:46794616-46794658	GM19240	blood:	n/a	n/a
42	CTCF	chr3:46798136-46798509	K562	blood:	n/a	chr3:46798379-46798397 chr3:46798381-46798394 chr3:46798380-46798396
43	CTCF	chr3:46794500-46794650	GM12873	blood:	n/a	n/a
44	CTCF	chr3:46794460-46794610	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr3:46846160-46846310	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr3:46794520-46794670	GM12864	blood:	n/a	n/a
47	CTCF	chr3:46850120-46850270	GM12873	blood:	n/a	chr3:46850217-46850226
48	CTCF	chr3:46792209-46792538	K562	blood:	n/a	chr3:46792393-46792409 chr3:46792392-46792410 chr3:46792397-46792410 chr3:46792234-46792247 chr3:46792394-46792407
49	CTCF	chr3:46846080-46846230	NHEK	skin:	n/a	n/a
50	CTCF	chr3:46794500-46794650	GM12872	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46792462-46792512	A549	lung:	n/a
2	chr3:46792462-46792512	A549	lung:	n/a
3	chr3:46799010-46799060	MCF-7	breast:	n/a
4	chr3:46792023-46792073	HCM	heart:	n/a
5	chr3:46794154-46794204	T-47D	breast:	n/a
6	chr3:46791477-46791527	GM19239	blood:	n/a
7	chr3:46798240-46798290	PrEC	prostate:	n/a
8	chr3:46797928-46797978	SK-N-SH_RA	brain:	n/a
9	chr3:46801208-46801258	Hepatocyte	liver:	n/a
10	chr3:46792357-46792407	HEK293	kidney:	embryo
11	chr3:46797928-46797978	HUVEC	blood vessel:	n/a
12	chr3:46796026-46796076	BE2_C	brain:	n/a
13	chr3:46799010-46799060	MCF10A-Er-Src	breast:	n/a
14	chr3:46794154-46794204	SAEC	small airway:	n/a
15	chr3:46850588-46850638	CMK	blood:	n/a
16	chr3:46801208-46801258	ProgFib	skin:	n/a
17	chr3:46792462-46792512	SK-N-SH_RA	brain:	n/a
18	chr3:46792192-46792242	NB4	blood:	n/a
19	chr3:46792364-46792414	Hepatocyte	liver:	n/a
20	chr3:46792462-46792512	LNCaP	prostate:	n/a
21	chr3:46801208-46801258	RPTEC	kidney:	n/a
22	chr3:46792023-46792073	GM12891	blood:	n/a
23	chr3:46792357-46792407	HPAEpiC	pulmonary alveolar:	n/a
24	chr3:46797928-46797978	GM12878	blood:	n/a
25	chr3:46792462-46792512	NHBE	bronchial:	n/a
26	chr3:46791477-46791527	HCT-116	colon:	n/a
27	chr3:46796026-46796076	HUVEC	blood vessel:	n/a
28	chr3:46792192-46792242	AoSMC	blood vessel:	n/a
29	chr3:46799010-46799060	T-47D	breast:	n/a
30	chr3:46792023-46792073	H1-hESC	embryonic stem cell:	embryo
31	chr3:46792023-46792073	NT2-D1	testis:	n/a
32	chr3:46792364-46792414	AoSMC	blood vessel:	n/a
33	chr3:46792462-46792512	HCPEpiC	choroid plexus:	n/a
34	chr3:46792357-46792407	T-47D	breast:	n/a
35	chr3:46792364-46792414	GM12892	blood:	n/a
36	chr3:46792357-46792407	HepG2	liver:	n/a
37	chr3:46850588-46850638	PrEC	prostate:	n/a
38	chr3:46801208-46801258	Caco-2	colon:	n/a
39	chr3:46850588-46850638	BJ	skin:	n/a
40	chr3:46799010-46799060	HIPEpiC	eye:	n/a
41	chr3:46791477-46791527	AG04450	lung:	fetal
42	chr3:46792364-46792414	A549	lung:	n/a
43	chr3:46797928-46797978	GM12892	blood:	n/a
44	chr3:46796026-46796076	HepG2	liver:	n/a
45	chr3:46792192-46792242	ovcar-3	ovarian:	n/a
46	chr3:46792364-46792414	HL-60	blood:	n/a
47	chr3:46794154-46794204	HNPCEpiC	eye:	n/a
48	chr3:46792364-46792414	PrEC	prostate:	n/a
49	chr3:46799010-46799060	GM19239	blood:	n/a
50	chr3:46792462-46792512	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:46788120..46791042-chr3:46798895..46800766,2	K562	blood:
2	chr3:46796204..46798578-chr3:46800470..46803401,3	K562	blood:
3	chr3:46789741..46793223-chr3:46794604..46798425,5	K562	blood:
4	chr3:46796974..46798578-chr3:46800470..46803376,2	K562	blood:
5	chr3:46798748..46799515-chr3:46907913..46908649,2	K562	blood:
6	chr3:46783977..46786592-chr3:46791856..46793997,2	MCF-7	breast:
7	chr3:46796204..46798578-chr3:46800470..46803401,3	K562	blood:
8	chr3:46819637..46822469-chr3:46912934..46914923,2	K562	blood:
9	chr3:46792775..46794351-chr3:46906387..46908133,2	K562	blood:
10	chr3:46746227..46747136-chr3:46797879..46798830,2	K562	blood:
11	chr3:46803507..46806312-chr3:46807817..46810409,2	K562	blood:
12	chr3:46787160..46789838-chr3:46792836..46795181,2	K562	blood:
13	chr3:46847486..46849953-chr3:46878692..46880394,2	K562	blood:
14	chr3:46774758..46775741-chr3:46797694..46798443,2	K562	blood:
15	chr3:46796974..46798578-chr3:46800470..46803376,2	K562	blood:
16	chr3:46796598..46799185-chr3:46799676..46801957,2	MCF-7	breast:
17	chr3:46789981..46792010-chr3:46794604..46797550,3	K562	blood:
18	chr3:46785802..46787615-chr3:46790135..46792444,2	K562	blood:
19	chr3:46789981..46792010-chr3:46794604..46797550,3	K562	blood:
20	chr3:46803507..46806312-chr3:46807817..46810409,2	K562	blood:
21	chr3:46789741..46793223-chr3:46794604..46798425,5	K562	blood:
22	chr3:46780314..46782174-chr3:46791450..46793098,2	K562	blood:
23	chr3:46788120..46791042-chr3:46798895..46800766,2	K562	blood:
24	chr3:46796598..46799185-chr3:46799676..46801957,2	MCF-7	breast:

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
ENSG00000238013	CpG island
PRSS45	CpG island
ENSG00000188086	chromatin interactions

Extended variants
information (count: 835 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:835 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78841925	chr3:46791012-46791013	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs577863673	chr3:46791055-46791056	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs566088927	chr3:46791132-46791133	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs76674182	chr3:46791162-46791163	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs398062306	chr3:46791164-46791165	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs561195044	chr3:46791172-46791173	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs536724774	chr3:46791208-46791209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148539742	chr3:46791231-46791232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369422571	chr3:46791254-46791255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555910590	chr3:46791280-46791281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183402151	chr3:46791383-46791384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs62248372	chr3:46791386-46791387	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs57020974	chr3:46791395-46791396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577821421	chr3:46791445-46791446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs141828474	chr3:46791455-46791456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs114307739	chr3:46791460-46791461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529695487	chr3:46791502-46791503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571741716	chr3:46791503-46791504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535429541	chr3:46791515-46791516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs150623740	chr3:46791516-46791517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs531306039	chr3:46791525-46791526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs62248373	chr3:46791529-46791530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543609066	chr3:46791538-46791539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565488490	chr3:46791563-46791564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs75142302	chr3:46791598-46791599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548100078	chr3:46791676-46791677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566066774	chr3:46791706-46791707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530161194	chr3:46791711-46791712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553938025	chr3:46791716-46791717	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560018888	chr3:46791783-46791784	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187492082	chr3:46791836-46791837	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540434737	chr3:46791852-46791853	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556051885	chr3:46791861-46791862	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571445864	chr3:46791872-46791873	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532219372	chr3:46791881-46791882	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112302025	chr3:46791886-46791887	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554076066	chr3:46791905-46791906	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs377649071	chr3:46791912-46791913	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192338350	chr3:46791996-46791997	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs147956993	chr3:46792030-46792031	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140038866	chr3:46792047-46792048	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370846370	chr3:46792048-46792049	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs575695715	chr3:46792056-46792057	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs34034968	chr3:46792071-46792072	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs28584393	chr3:46792138-46792139	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145581837	chr3:46792162-46792163	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112952678	chr3:46792190-46792191	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377703133	chr3:46792240-46792241	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560136201	chr3:46792246-46792247	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs370281843	chr3:46792249-46792250	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive 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:98 , 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	chr3:46779400-46795400	Weak transcription	Spleen	Spleen
4	chr3:46779400-46799600	Weak transcription	Pancreas	Pancrea
5	chr3:46779800-46792800	Weak transcription	Thymus	Thymus
6	chr3:46785200-46799800	Weak transcription	Fetal Intestine Small	intestine
7	chr3:46785800-46795600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:46789200-46794200	Weak transcription	GM12878-XiMat	blood
9	chr3:46790600-46791800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:46791800-46792400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:46792200-46792800	Flanking Bivalent TSS/Enh	K562	blood
12	chr3:46792400-46794200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr3:46792400-46797800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:46792800-46795000	Enhancers	Thymus	Thymus
15	chr3:46793400-46795200	Enhancers	Fetal Thymus	thymus
16	chr3:46793400-46800000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:46793800-46794200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:46794200-46795000	Enhancers	GM12878-XiMat	blood
19	chr3:46795000-46796000	Weak transcription	Thymus	Thymus
20	chr3:46795200-46796200	Weak transcription	Fetal Thymus	thymus
21	chr3:46795600-46798000	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr3:46796000-46796800	Enhancers	Thymus	Thymus
23	chr3:46796400-46796600	Enhancers	Fetal Thymus	thymus
24	chr3:46797600-46797800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr3:46797600-46797800	Bivalent Enhancer	K562	blood
26	chr3:46797600-46798400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:46797800-46798400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:46798000-46798600	Enhancers	Placenta	Placenta
29	chr3:46798000-46798600	Active TSS	K562	blood
30	chr3:46798000-46801400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:46798400-46801200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:46800600-46801400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:46801000-46801200	Enhancers	Fetal Stomach	stomach
34	chr3:46801000-46801400	Enhancers	Fetal Kidney	kidney
35	chr3:46801000-46801800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:46801000-46801800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr3:46801000-46802000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:46801000-46802000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:46801000-46802000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr3:46801200-46801400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr3:46801200-46801400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:46801200-46801600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr3:46801200-46801600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:46801200-46801600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:46801200-46801600	Enhancers	Fetal Lung	lung
46	chr3:46801200-46801600	Enhancers	Psoas Muscle	Psoas
47	chr3:46801200-46802000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:46801400-46802000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr3:46801600-46803400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:46802000-46804400	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links