Variant report

Variant	nsv873176
Chromosome Location	chr1:216249570-216363137
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	ATF1	chr1:216356836-216356988	K562	blood:	n/a	n/a
2	ATF2	chr1:216268749-216269094	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr1:216356263-216356714	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr1:216356273-216356800	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:216354313-216354445	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:216268710-216269105	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCLAF1	chr1:216292981-216293273	GM12878	blood:	n/a	n/a
8	BHLHE40	chr1:216293052-216293215	GM12878	blood:	n/a	n/a
9	BHLHE40	chr1:216281301-216281320	GM12878	blood:	n/a	n/a
10	CEBPB	chr1:216314423-216314658	H1-hESC	embryonic stem cell:	n/a	chr1:216314447-216314458 chr1:216314502-216314515
11	CEBPB	chr1:216356367-216356673	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr1:216268780-216269010	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr1:216254856-216255149	HepG2	liver:	n/a	n/a
14	CEBPB	chr1:216293025-216293317	HepG2	liver:	n/a	chr1:216293174-216293185
15	CEBPB	chr1:216342693-216343206	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr1:216292919-216293392	MCF-7	breast:	n/a	chr1:216293174-216293185
17	CEBPB	chr1:216292990-216293353	IMR90	lung:	n/a	chr1:216293174-216293185
18	CEBPB	chr1:216292987-216293403	MCF-7	breast:	n/a	chr1:216293174-216293185
19	CEBPB	chr1:216293014-216293325	A549	lung:	n/a	chr1:216293174-216293185
20	CEBPB	chr1:216293005-216293374	A549	lung:	n/a	chr1:216293174-216293185
21	CHD1	chr1:216318199-216318287	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr1:216356435-216356650	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr1:216293010-216293238	HepG2	liver:	n/a	chr1:216293124-216293145 chr1:216293129-216293147 chr1:216293130-216293146
24	CTCF	chr1:216293061-216293235	GM13977	blood:	n/a	chr1:216293124-216293145 chr1:216293129-216293147 chr1:216293130-216293146
25	CTCF	chr1:216285300-216285450	HBMEC	blood vessel:	n/a	chr1:216285375-216285391 chr1:216285374-216285392 chr1:216285376-216285397
26	CTCF	chr1:216293040-216293190	GM12873	blood:	n/a	chr1:216293124-216293145 chr1:216293129-216293147 chr1:216293130-216293146
27	CTCF	chr1:216349160-216349310	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr1:216285300-216285450	GM12873	blood:	n/a	chr1:216285375-216285391 chr1:216285374-216285392 chr1:216285376-216285397
29	CTCF	chr1:216349025-216349410	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr1:216293060-216293210	HMEC	breast:	n/a	chr1:216293124-216293145 chr1:216293129-216293147 chr1:216293130-216293146
31	CTCF	chr1:216293040-216293190	Hela-S3	cervix:	n/a	chr1:216293124-216293145 chr1:216293129-216293147 chr1:216293130-216293146
32	CTCF	chr1:216293100-216293250	HVMF	connective:	n/a	chr1:216293124-216293145 chr1:216293129-216293147 chr1:216293130-216293146
33	CTCF	chr1:216285185-216285571	IMR90	lung:	n/a	chr1:216285375-216285391 chr1:216285374-216285392 chr1:216285376-216285397
34	CTCF	chr1:216349200-216349350	HMEC	breast:	n/a	n/a
35	CTCF	chr1:216293000-216293150	HFF-Myc	foreskin:	n/a	chr1:216293124-216293145 chr1:216293129-216293147 chr1:216293130-216293146
36	CTCF	chr1:216293060-216293210	HBMEC	blood vessel:	n/a	chr1:216293124-216293145 chr1:216293129-216293147 chr1:216293130-216293146
37	CTCF	chr1:216285320-216285470	HPAF	blood vessel:	n/a	chr1:216285375-216285391 chr1:216285374-216285392 chr1:216285376-216285397
38	CTCF	chr1:216349180-216349330	BE2_C	brain:	n/a	n/a
39	CTCF	chr1:216293021-216293318	SK-N-SH_RA	brain:	n/a	chr1:216293124-216293145 chr1:216293129-216293147 chr1:216293130-216293146
40	CTCF	chr1:216349168-216349282	NHEK	skin:	n/a	n/a
41	CTCF	chr1:216293100-216293250	GM12868	blood:	n/a	chr1:216293124-216293145 chr1:216293129-216293147 chr1:216293130-216293146
42	CTCF	chr1:216293066-216293213	Kidney_OC	kidney:	n/a	chr1:216293124-216293145 chr1:216293129-216293147 chr1:216293130-216293146
43	CTCF	chr1:216292980-216293130	GM12870	blood:	n/a	n/a
44	CTCF	chr1:216293120-216293270	BE2_C	brain:	n/a	chr1:216293124-216293145 chr1:216293129-216293147 chr1:216293130-216293146
45	CTCF	chr1:216293060-216293210	HEK293	kidney:	n/a	chr1:216293124-216293145 chr1:216293129-216293147 chr1:216293130-216293146
46	CTCF	chr1:216349215-216349246	GM19238	blood:	n/a	n/a
47	CTCF	chr1:216360400-216360550	AG04450	lung:	n/a	n/a
48	CTCF	chr1:216293100-216293250	GM12865	blood:	n/a	chr1:216293124-216293145 chr1:216293129-216293147 chr1:216293130-216293146
49	CTCF	chr1:216293040-216293190	HPAF	blood vessel:	n/a	chr1:216293124-216293145 chr1:216293129-216293147 chr1:216293130-216293146
50	CTCF	chr1:216285320-216285470	GM12864	blood:	n/a	chr1:216285375-216285391 chr1:216285374-216285392 chr1:216285376-216285397

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:216348212-216348262	Caco-2	colon:	n/a
2	chr1:216356932-216356982	PrEC	prostate:	n/a
3	chr1:216348212-216348262	ovcar-3	ovarian:	n/a
4	chr1:216356932-216356982	GM19239	blood:	n/a
5	chr1:216348212-216348262	HEK293	kidney:	embryo
6	chr1:216356932-216356982	HRCEpiC	kidney:	n/a
7	chr1:216356932-216356982	ECC-1	luminal epithelium:	n/a
8	chr1:216269240-216269290	A549	lung:	n/a
9	chr1:216269240-216269290	ovcar-3	ovarian:	n/a
10	chr1:216269240-216269290	HIPEpiC	eye:	n/a
11	chr1:216348212-216348262	CMK	blood:	n/a
12	chr1:216356932-216356982	SAEC	small airway:	n/a
13	chr1:216356932-216356982	LNCaP	prostate:	n/a
14	chr1:216348212-216348262	NH-A	brain:	n/a
15	chr1:216356932-216356982	K562	blood:	n/a
16	chr1:216356932-216356982	HUVEC	blood vessel:	n/a
17	chr1:216269240-216269290	MCF10A-Er-Src	breast:	n/a
18	chr1:216348212-216348262	HMEC	breast:	n/a
19	chr1:216348212-216348262	BJ	skin:	n/a
20	chr1:216356932-216356982	SK-N-SH_RA	brain:	n/a
21	chr1:216269240-216269290	BE2_C	brain:	n/a
22	chr1:216348212-216348262	HNPCEpiC	eye:	n/a
23	chr1:216269240-216269290	PANC-1	pancreas:	n/a
24	chr1:216348212-216348262	GM12878	blood:	n/a
25	chr1:216269240-216269290	BJ	skin:	n/a
26	chr1:216348212-216348262	HUVEC	blood vessel:	n/a
27	chr1:216348212-216348262	AoSMC	blood vessel:	n/a
28	chr1:216348212-216348262	HAEpiC	amniotic membrane:	n/a
29	chr1:216356932-216356982	HAEpiC	amniotic membrane:	n/a
30	chr1:216269240-216269290	HCT-116	colon:	n/a
31	chr1:216348212-216348262	NB4	blood:	n/a
32	chr1:216348212-216348262	HPAEpiC	pulmonary alveolar:	n/a
33	chr1:216269240-216269290	HNPCEpiC	eye:	n/a
34	chr1:216269240-216269290	NHBE	bronchial:	n/a
35	chr1:216269240-216269290	AG04449	skin:	fetal
36	chr1:216348212-216348262	AG04450	lung:	fetal
37	chr1:216269240-216269290	AG10803	skin:	n/a
38	chr1:216269240-216269290	SK-N-SH	brain:	n/a
39	chr1:216348212-216348262	MCF-7	breast:	n/a
40	chr1:216356932-216356982	H1-hESC	embryonic stem cell:	embryo
41	chr1:216356932-216356982	BE2_C	brain:	n/a
42	chr1:216348212-216348262	AG09309	skin:	n/a
43	chr1:216356932-216356982	GM12892	blood:	n/a
44	chr1:216348212-216348262	HCM	heart:	n/a
45	chr1:216348212-216348262	Hepatocyte	liver:	n/a
46	chr1:216356932-216356982	Caco-2	colon:	n/a
47	chr1:216356932-216356982	MCF-7	breast:	n/a
48	chr1:216269240-216269290	Hela-S3	cervix:	n/a
49	chr1:216356932-216356982	AG09319	gingival:	n/a
50	chr1:216348212-216348262	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:216245065..216247165-chr1:216288928..216290480,2	K562	blood:
2	chr1:216166090..216166621-chr1:216293129..216293695,2	MCF-7	breast:
3	chr1:216207908..216208562-chr1:216293070..216293728,3	MCF-7	breast:
4	chr1:216285193..216285790-chr1:216916011..216916615,2	MCF-7	breast:
5	chr1:216061208..216061956-chr1:216293049..216293584,2	MCF-7	breast:
6	chr1:216312061..216313973-chr1:216314332..216316595,2	K562	blood:
7	chr1:216292629..216293133-chr1:216367159..216367677,2	MCF-7	breast:
8	chr1:216165696..216166649-chr1:216292836..216293591,2	MCF-7	breast:
9	chr1:216308823..216311948-chr1:216312152..216315770,3	K562	blood:
10	chr1:216349276..216351630-chr6:58776732..58778763,2	MCF-7	breast:
11	chr1:216261476..216264118-chr1:216264483..216266208,2	K562	blood:
12	chr1:216333170..216335815-chr1:216426543..216429125,2	MCF-7	breast:
13	chr1:215883823..215884559-chr1:216292963..216293650,2	MCF-7	breast:
14	chr1:216356578..216358271-chr1:216360791..216362498,3	K562	blood:
15	chr1:216308823..216311948-chr1:216312152..216315770,3	K562	blood:
16	chr1:216246066..216248106-chr1:216251823..216254349,2	K562	blood:
17	chr1:216284681..216285499-chr1:216394193..216394778,3	MCF-7	breast:
18	chr1:216284977..216285858-chr1:216367147..216367895,3	MCF-7	breast:
19	chr1:216356578..216358271-chr1:216360791..216362498,3	K562	blood:
20	chr1:216312061..216313973-chr1:216314332..216316595,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD3-2	chr1:216260064-216260247	ENSG00000233620.1
2	lnc-KCTD3-2	chr1:216260064-216260247	ENSG00000233620.1
3	lnc-KCTD3-2	chr1:216252415-216252543	ENSG00000233620.1
4	lnc-KCTD3-2	chr1:216253307-216253383	ENSG00000233620.1
5	lnc-KCTD3-8	chr1:216273538-216273625	NONHSAT009482
6	lnc-KCTD3-9	chr1:216291120-216291227	NONHSAT009483
7	lnc-KCTD3-9	chr1:216298699-216299105	NONHSAT009483
8	lnc-KCTD3-9	chr1:216286099-216286218	NONHSAT009483
9	lnc-KCTD3-2	chr1:216252415-216252543	ENSG00000233620.1
10	lnc-KCTD3-8	chr1:216271800-216271926	NONHSAT009482
11	lnc-KCTD3-9	chr1:216283470-216284562	NONHSAT009483
12	lnc-KCTD3-2	chr1:216260064-216260247	ENSG00000233620.1
13	lnc-KCTD3-2	chr1:216260064-216260259	ENSG00000233620.1
14	lnc-KCTD3-2	chr1:216252415-216252543	ENSG00000233620.1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	USH2A	hsa-miR-335-5p	chr1:216347974-216347996

Variant related genes	Relation type
USH2A	TF binding region
ENSG00000233620	TF binding region
ENSG00000236292	TF binding region
USH2A	CpG island
ENSG00000233620	CpG island
ENSG00000236292	CpG island
ENSG00000236292	chromatin interactions
ENSG00000233620	chromatin interactions
ENSG00000042781	chromatin interactions

Extended variants
information (count: 3358 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:3358 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11587260	chr1:216249570-216249571	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116376396	chr1:216249585-216249586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538024467	chr1:216249590-216249591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182684800	chr1:216249594-216249595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187059604	chr1:216249598-216249599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534242977	chr1:216249612-216249613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554139444	chr1:216249668-216249669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577135709	chr1:216249687-216249688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546488105	chr1:216249758-216249759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539764190	chr1:216249761-216249762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375737372	chr1:216249794-216249795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150080638	chr1:216249796-216249797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138336852	chr1:216249797-216249798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560691710	chr1:216249864-216249865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77040236	chr1:216249888-216249889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147324675	chr1:216249892-216249893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12087580	chr1:216249948-216249949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191100678	chr1:216249968-216249969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531978017	chr1:216249980-216249981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1436781	chr1:216250034-216250035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569151872	chr1:216250035-216250036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79107406	chr1:216250037-216250038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183696100	chr1:216250080-216250081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568212714	chr1:216250093-216250094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534322293	chr1:216250152-216250153	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs553941589	chr1:216250181-216250182	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs577199237	chr1:216250200-216250201	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs190252791	chr1:216250201-216250202	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs140960693	chr1:216250221-216250222	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs373913564	chr1:216250228-216250229	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs193288989	chr1:216250233-216250234	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs17586618	chr1:216250245-216250246	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs199600280	chr1:216250260-216250261	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs572280093	chr1:216250265-216250266	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs540342343	chr1:216250283-216250284	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs143168606	chr1:216250314-216250315	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs532162850	chr1:216250353-216250354	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs147483476	chr1:216250362-216250363	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs367843228	chr1:216250368-216250369	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs78767582	chr1:216250376-216250377	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs531639680	chr1:216250391-216250392	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs548474818	chr1:216250422-216250423	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs568277739	chr1:216250469-216250470	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs527479619	chr1:216250471-216250472	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs368565697	chr1:216250479-216250480	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs185078778	chr1:216250486-216250487	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs570851838	chr1:216250508-216250509	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs539859847	chr1:216250521-216250522	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs556150207	chr1:216250540-216250541	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs569670755	chr1:216250541-216250542	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pleomorphic liposarcoma	18784837	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216244400-216250800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:216248000-216249600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:216248400-216250400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:216249000-216250000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:216249000-216260200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:216249200-216251800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:216249200-216252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:216249200-216252600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:216249200-216252800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:216249200-216257400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:216249400-216250000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:216249400-216251400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:216249400-216252400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:216249400-216252800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:216249800-216250000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr1:216250000-216250200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:216250000-216252800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:216250200-216250400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:216250200-216252600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:216251400-216252000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:216252000-216256800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:216252400-216253200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:216252600-216252800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:216252600-216253000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:216252600-216253000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:216252800-216253200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr1:216252800-216253400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:216253000-216259000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:216254400-216255600	Enhancers	Liver	Liver
30	chr1:216256800-216257600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:216257400-216257600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:216257600-216260400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:216258800-216259200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:216259000-216259200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:216260200-216261600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:216260400-216261400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:216264000-216264600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:216267000-216269800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr1:216267200-216269400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:216267400-216267600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:216267600-216268400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:216268000-216269600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr1:216268000-216269600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:216268200-216269600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr1:216268200-216269600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr1:216268200-216269600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr1:216268400-216269200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:216268400-216269200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr1:216268400-216269800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:216268800-216269200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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