Variant report

Variant	nsv912120
Chromosome Location	chr19:45304307-45317469
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	ARID3A	chr19:45310601-45310612	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:45311305-45311475	HepG2	liver:	n/a	n/a
3	ATF2	chr19:45311188-45311983	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr19:45311211-45311597	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr19:45311038-45312314	A549	lung:	n/a	chr19:45312244-45312257 chr19:45311679-45311692
6	BCL3	chr19:45310251-45310780	A549	lung:	n/a	n/a
7	BHLHE40	chr19:45311358-45311508	K562	blood:	n/a	n/a
8	BHLHE40	chr19:45310387-45310678	K562	blood:	n/a	chr19:45310514-45310535
9	BHLHE40	chr19:45311227-45311704	HepG2	liver:	n/a	n/a
10	BHLHE40	chr19:45310340-45310764	HepG2	liver:	n/a	chr19:45310514-45310535
11	BHLHE40	chr19:45310353-45310721	A549	lung:	n/a	chr19:45310514-45310535
12	BHLHE40	chr19:45312088-45312151	K562	blood:	n/a	chr19:45312124-45312140
13	BHLHE40	chr19:45310328-45310702	HepG2	liver:	n/a	chr19:45310514-45310535
14	BHLHE40	chr19:45310251-45310772	HepG2	liver:	n/a	chr19:45310514-45310535
15	BRCA1	chr19:45311278-45311478	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr19:45311981-45311985	HepG2	liver:	n/a	n/a
17	CCNT2	chr19:45311883-45312513	K562	blood:	n/a	n/a
18	CEBPB	chr19:45307120-45307382	Hela-S3	cervix:	n/a	n/a
19	CEBPD	chr19:45315436-45315919	HepG2	liver:	n/a	n/a
20	CEBPD	chr19:45311800-45312626	HepG2	liver:	n/a	n/a
21	CEBPD	chr19:45312272-45312522	HepG2	liver:	n/a	n/a
22	CEBPD	chr19:45311160-45311701	HepG2	liver:	n/a	n/a
23	CHD2	chr19:45315756-45315827	HepG2	liver:	n/a	n/a
24	CHD2	chr19:45311664-45311841	HepG2	liver:	n/a	n/a
25	CHD2	chr19:45311191-45312492	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr19:45312515-45312609	HepG2	liver:	n/a	n/a
27	CTBP2	chr19:45311164-45312186	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr19:45311195-45311592	K562	blood:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
29	CTCF	chr19:45311280-45311430	A549	lung:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
30	CTCF	chr19:45311260-45311410	HA-sp	spinal cord:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
31	CTCF	chr19:45311207-45311557	GM12878	blood:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
32	CTCF	chr19:45316740-45316890	MCF-7	breast:	n/a	n/a
33	CTCF	chr19:45311300-45311450	Caco-2	colon:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
34	CTCF	chr19:45306000-45306150	HEK293	kidney:	n/a	n/a
35	CTCF	chr19:45311320-45311470	HBMEC	blood vessel:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
36	CTCF	chr19:45311138-45311550	K562	blood:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
37	CTCF	chr19:45311228-45311230	GM19239	blood:	n/a	n/a
38	CTCF	chr19:45311300-45311450	GM12878	blood:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
39	CTCF	chr19:45311480-45311630	A549	lung:	n/a	n/a
40	CTCF	chr19:45311300-45311450	GM12864	blood:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
41	CTCF	chr19:45311136-45311535	ECC-1	luminal epithelium:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
42	CTCF	chr19:45311280-45311430	Hela-S3	cervix:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
43	CTCF	chr19:45310852-45312815	A549	lung:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
44	CTCF	chr19:45311278-45311483	GM10248	blood:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
45	CTCF	chr19:45310429-45310458	NHEK	skin:	n/a	n/a
46	CTCF	chr19:45311255-45311556	Fibrobl	skin:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
47	CTCF	chr19:45311168-45311626	H1-hESC	embryonic stem cell:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
48	CTCF	chr19:45311320-45311470	BJ	skin:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
49	CTCF	chr19:45311320-45311470	HUVEC	blood vessel:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
50	CTCF	chr19:45310600-45310750	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45315721-45315771	NHBE	bronchial:	n/a
2	chr19:45316493-45316543	HUVEC	blood vessel:	n/a
3	chr19:45315721-45315771	NHBE	bronchial:	n/a
4	chr19:45316493-45316543	HUVEC	blood vessel:	n/a
5	chr19:45317345-45317395	HEK293	kidney:	embryo
6	chr19:45312060-45312110	Jurkat	blood:	n/a
7	chr19:45315721-45315771	HUVEC	blood vessel:	n/a
8	chr19:45315721-45315771	AG04449	skin:	fetal
9	chr19:45311997-45312047	AG09319	gingival:	n/a
10	chr19:45317345-45317395	HRPEpiC	eye:	n/a
11	chr19:45311997-45312047	HRE	kidney:	n/a
12	chr19:45317345-45317395	GM06990	blood:	n/a
13	chr19:45316493-45316543	HAEpiC	amniotic membrane:	n/a
14	chr19:45317345-45317395	BE2_C	brain:	n/a
15	chr19:45316509-45316559	A549	lung:	n/a
16	chr19:45312060-45312110	HNPCEpiC	eye:	n/a
17	chr19:45311868-45311918	K562	blood:	n/a
18	chr19:45317345-45317395	HPAEpiC	pulmonary alveolar:	n/a
19	chr19:45312060-45312110	A549	lung:	n/a
20	chr19:45311781-45311831	Hepatocyte	liver:	n/a
21	chr19:45315721-45315771	GM06990	blood:	n/a
22	chr19:45311781-45311831	Jurkat	blood:	n/a
23	chr19:45316682-45316732	HCM	heart:	n/a
24	chr19:45316682-45316732	U87	brain:	n/a
25	chr19:45316682-45316732	BE2_C	brain:	n/a
26	chr19:45311868-45311918	MCF10A-Er-Src	breast:	n/a
27	chr19:45314566-45314616	GM12878	blood:	n/a
28	chr19:45314566-45314616	HMEC	breast:	n/a
29	chr19:45312060-45312110	HIPEpiC	eye:	n/a
30	chr19:45315721-45315771	HPAEpiC	pulmonary alveolar:	n/a
31	chr19:45315572-45315622	A549	lung:	n/a
32	chr19:45316509-45316559	HCM	heart:	n/a
33	chr19:45316682-45316732	HIPEpiC	eye:	n/a
34	chr19:45316789-45316839	AG04449	skin:	fetal
35	chr19:45312060-45312110	GM06990	blood:	n/a
36	chr19:45317345-45317395	IMR90	lung:	fetal
37	chr19:45316509-45316559	SAEC	small airway:	n/a
38	chr19:45312060-45312110	NH-A	brain:	n/a
39	chr19:45316682-45316732	PrEC	prostate:	n/a
40	chr19:45311997-45312047	HEK293	kidney:	embryo
41	chr19:45314566-45314616	HRPEpiC	eye:	n/a
42	chr19:45316789-45316839	HEK293	kidney:	embryo
43	chr19:45315721-45315771	PANC-1	pancreas:	n/a
44	chr19:45314566-45314616	NB4	blood:	n/a
45	chr19:45311868-45311918	H1-hESC	embryonic stem cell:	embryo
46	chr19:45315572-45315622	NB4	blood:	n/a
47	chr19:45316789-45316839	NHBE	bronchial:	n/a
48	chr19:45311868-45311918	AG10803	skin:	n/a
49	chr19:45316493-45316543	Hepatocyte	liver:	n/a
50	chr19:45311997-45312047	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45305840..45308889-chr19:45308989..45312130,4	MCF-7	breast:
2	chr19:45305875..45309203-chr19:45309695..45312434,4	MCF-7	breast:
3	chr19:45309744..45311644-chr19:45324913..45327057,2	MCF-7	breast:
4	chr19:45316121..45318107-chr19:45322660..45325176,2	K562	blood:
5	chr19:45249756..45251752-chr19:45305375..45307414,2	MCF-7	breast:
6	chr19:45303896..45305467-chr19:45346673..45349585,2	K562	blood:
7	chr19:45287462..45288194-chr19:45311126..45311751,2	MCF-7	breast:
8	chr19:45256385..45258826-chr19:45310390..45312154,2	MCF-7	breast:
9	chr19:45192137..45193058-chr19:45303449..45304435,2	K562	blood:
10	chr19:45225615..45227303-chr19:45305685..45307251,2	MCF-7	breast:
11	chr19:45298818..45303552-chr19:45309335..45312129,4	MCF-7	breast:
12	chr19:45303436..45304427-chr19:45347545..45348932,8	MCF-7	breast:
13	chr19:45305482..45307163-chr19:45347228..45349647,2	MCF-7	breast:
14	chr19:45227043..45229115-chr19:45309849..45311993,3	MCF-7	breast:
15	chr19:45308884..45313334-chr19:45345353..45351688,18	MCF-7	breast:
16	chr19:45147379..45150123-chr19:45308817..45312008,3	MCF-7	breast:
17	chr19:45303472..45304374-chr19:45347688..45348837,4	MCF-7	breast:
18	chr19:45258326..45260627-chr19:45310152..45311875,2	MCF-7	breast:
19	chr19:45303416..45304388-chr19:45349472..45350115,2	K562	blood:
20	chr19:45304092..45306165-chr19:45346908..45348709,2	MCF-7	breast:
21	chr19:45308022..45312966-chr19:45346579..45352259,11	MCF-7	breast:
22	chr19:45309587..45312322-chr19:45456957..45459370,2	MCF-7	breast:
23	chr19:45303445..45304423-chr19:45348103..45348767,4	K562	blood:
24	chr19:45314362..45315171-chr19:45348110..45348929,2	K562	blood:
25	chr19:45311083..45313001-chr19:45347399..45349440,2	K562	blood:
26	chr19:45249129..45253567-chr19:45309146..45313529,6	MCF-7	breast:
27	chr19:45250785..45254453-chr19:45309921..45313662,4	MCF-7	breast:
28	chr19:45223983..45225752-chr19:45308635..45310345,2	MCF-7	breast:
29	chr19:45310566..45312166-chr19:45318337..45320547,2	K562	blood:
30	chr19:45305840..45308889-chr19:45308989..45312130,4	MCF-7	breast:
31	chr19:45316439..45318053-chr19:45349513..45351038,2	K562	blood:

Variant related genes	Relation type
BCAM	TF binding region
BCAM	CpG island
ENSG00000073008	chromatin interactions
ENSG00000187244	chromatin interactions
ENSG00000267114	chromatin interactions
ENSG00000104853	chromatin interactions
ENSG00000130202	chromatin interactions
ENSG00000069399	chromatin interactions

Extended variants
information (count: 588 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:588 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12327896	chr19:45304307-45304308	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs541012177	chr19:45304320-45304321	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12327720	chr19:45304322-45304323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77278382	chr19:45304343-45304344	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs56777358	chr19:45304354-45304355	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78005198	chr19:45304379-45304380	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573595490	chr19:45304389-45304390	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375191608	chr19:45304403-45304404	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs78912376	chr19:45304415-45304416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs651672	chr19:45304461-45304462	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368252509	chr19:45304484-45304485	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs74174286	chr19:45304543-45304544	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542950893	chr19:45304587-45304588	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372246285	chr19:45304644-45304645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562652426	chr19:45304808-45304809	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs531489803	chr19:45304844-45304845	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374943493	chr19:45304860-45304861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369038453	chr19:45304932-45304933	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371365755	chr19:45304943-45304944	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374683339	chr19:45304952-45304953	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551310744	chr19:45305004-45305005	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370100156	chr19:45305015-45305016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373303576	chr19:45305027-45305028	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12976621	chr19:45305036-45305037	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564937869	chr19:45305040-45305041	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12977054	chr19:45305051-45305052	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2965110	chr19:45305096-45305097	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2927440	chr19:45305145-45305146	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533212904	chr19:45305175-45305176	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs377534615	chr19:45305205-45305206	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551762561	chr19:45305248-45305249	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113712910	chr19:45305278-45305279	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547392191	chr19:45305291-45305292	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567314704	chr19:45305314-45305315	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536534336	chr19:45305330-45305331	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550408818	chr19:45305342-45305343	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111785004	chr19:45305345-45305346	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192879175	chr19:45305363-45305364	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549647089	chr19:45305381-45305382	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs539190217	chr19:45305389-45305390	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs558921561	chr19:45305390-45305391	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs567941763	chr19:45305395-45305396	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs184598899	chr19:45305422-45305423	Bivalent Enhancer Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs370533025	chr19:45305510-45305511	Bivalent Enhancer Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs554535849	chr19:45305518-45305519	Bivalent Enhancer Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs574454081	chr19:45305530-45305531	Bivalent Enhancer Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs535635220	chr19:45305557-45305558	Bivalent Enhancer Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs117142879	chr19:45305584-45305585	Bivalent Enhancer Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs188753777	chr19:45305631-45305632	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs116502914	chr19:45305680-45305681	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Muscular dystrophy	17160897	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45281400-45311400	Weak transcription	Right Atrium	heart
2	chr19:45284600-45309800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:45284800-45311400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:45294200-45311600	Weak transcription	Small Intestine	intestine
5	chr19:45296200-45310600	Weak transcription	Colonic Mucosa	Colon
6	chr19:45296800-45311000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:45297000-45307200	Weak transcription	Lung	lung
8	chr19:45297000-45311800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:45298200-45310200	Weak transcription	Gastric	stomach
10	chr19:45299200-45307200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:45299200-45310200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr19:45300600-45310400	Weak transcription	Stomach Mucosa	stomach
13	chr19:45300600-45311400	Weak transcription	Psoas Muscle	Psoas
14	chr19:45302600-45305600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr19:45303400-45305400	Weak transcription	HMEC	breast
16	chr19:45303800-45305600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:45303800-45305600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:45303800-45307400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:45303800-45310600	Weak transcription	Hela-S3	cervix
20	chr19:45304000-45305200	Weak transcription	HepG2	liver
21	chr19:45304000-45305400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:45304000-45305400	Weak transcription	A549	lung
23	chr19:45304000-45305400	Weak transcription	NHEK	skin
24	chr19:45304000-45305600	Weak transcription	Liver	Liver
25	chr19:45304000-45305600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr19:45304000-45305600	Weak transcription	Fetal Intestine Large	intestine
27	chr19:45304000-45307000	Weak transcription	Fetal Muscle Leg	muscle
28	chr19:45304000-45307000	Weak transcription	Fetal Stomach	stomach
29	chr19:45304000-45307400	Weak transcription	Spleen	Spleen
30	chr19:45304000-45309800	Weak transcription	Fetal Heart	heart
31	chr19:45304000-45310400	Weak transcription	Esophagus	oesophagus
32	chr19:45304000-45310400	Weak transcription	Pancreas	Pancrea
33	chr19:45304200-45306800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:45304200-45307000	Strong transcription	Fetal Intestine Small	intestine
35	chr19:45304200-45307000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr19:45305200-45306000	Enhancers	HepG2	liver
37	chr19:45305400-45305600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr19:45305400-45305800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:45305400-45306000	Enhancers	A549	lung
40	chr19:45305400-45306200	Strong transcription	HMEC	breast
41	chr19:45305400-45307600	Strong transcription	NHEK	skin
42	chr19:45305600-45305800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:45305600-45305800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr19:45305600-45306000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr19:45305600-45306400	Strong transcription	Liver	Liver
46	chr19:45305600-45307400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:45305600-45307600	Strong transcription	Fetal Intestine Large	intestine
48	chr19:45305600-45307800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr19:45305800-45306000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:45305800-45306000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links