Variant report

Variant	nsv873172
Chromosome Location	chr1:216144827-216281673
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:690)
CpG islands
(count:122)
Chromatin interactive
region (count:20)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:216208104-216208112	HepG2	liver:	n/a	n/a
2	ATF1	chr1:216204839-216204905	K562	blood:	n/a	n/a
3	ATF1	chr1:216230255-216230377	K562	blood:	n/a	n/a
4	ATF2	chr1:216268749-216269094	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:216179113-216179691	GM12878	blood:	n/a	n/a
6	ATF2	chr1:216179157-216179628	GM12878	blood:	n/a	n/a
7	BACH1	chr1:216248646-216248945	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr1:216268710-216269105	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr1:216231352-216231621	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr1:216179272-216179547	GM12878	blood:	n/a	chr1:216179445-216179455 chr1:216179444-216179455
11	BATF	chr1:216179265-216179648	GM12878	blood:	n/a	chr1:216179445-216179455 chr1:216179444-216179455
12	BCL11A	chr1:216179205-216179624	GM12878	blood:	n/a	chr1:216179443-216179452 chr1:216179444-216179453
13	BHLHE40	chr1:216281301-216281320	GM12878	blood:	n/a	n/a
14	BHLHE40	chr1:216179335-216179521	GM12878	blood:	n/a	n/a
15	BHLHE40	chr1:216167868-216168082	GM12878	blood:	n/a	n/a
16	CEBPB	chr1:216187824-216188135	H1-hESC	embryonic stem cell:	n/a	chr1:216187978-216187989 chr1:216187976-216187987
17	CEBPB	chr1:216254856-216255149	HepG2	liver:	n/a	n/a
18	CEBPB	chr1:216241261-216241515	HepG2	liver:	n/a	n/a
19	CEBPB	chr1:216166006-216166112	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr1:216230434-216230699	IMR90	lung:	n/a	chr1:216230508-216230519 chr1:216230508-216230521
21	CEBPB	chr1:216159898-216160181	HepG2	liver:	n/a	chr1:216160043-216160054 chr1:216160041-216160052
22	CEBPB	chr1:216160550-216160770	H1-hESC	embryonic stem cell:	n/a	chr1:216160606-216160617
23	CEBPB	chr1:216161383-216161589	IMR90	lung:	n/a	chr1:216161451-216161462
24	CEBPB	chr1:216158255-216158519	A549	lung:	n/a	n/a
25	CEBPB	chr1:216158233-216158567	HepG2	liver:	n/a	n/a
26	CEBPB	chr1:216159925-216160121	A549	lung:	n/a	chr1:216160043-216160054 chr1:216160041-216160052
27	CEBPB	chr1:216187383-216188142	IMR90	lung:	n/a	chr1:216187978-216187989 chr1:216187976-216187987
28	CEBPB	chr1:216165150-216165350	HepG2	liver:	n/a	chr1:216165257-216165270 chr1:216165257-216165268
29	CEBPB	chr1:216238019-216238387	IMR90	lung:	n/a	chr1:216238191-216238202
30	CEBPB	chr1:216207830-216208141	IMR90	lung:	n/a	n/a
31	CEBPB	chr1:216207815-216208181	MCF-7	breast:	n/a	n/a
32	CEBPB	chr1:216160461-216160790	A549	lung:	n/a	chr1:216160606-216160617
33	CEBPB	chr1:216207818-216208160	A549	lung:	n/a	n/a
34	CEBPB	chr1:216207888-216208130	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr1:216187849-216188081	K562	blood:	n/a	chr1:216187978-216187989 chr1:216187976-216187987
36	CEBPB	chr1:216177786-216177960	HepG2	liver:	n/a	chr1:216177849-216177860
37	CEBPB	chr1:216159906-216160063	H1-hESC	embryonic stem cell:	n/a	chr1:216160043-216160054 chr1:216160041-216160052
38	CEBPB	chr1:216161355-216161612	HepG2	liver:	n/a	chr1:216161451-216161462
39	CEBPB	chr1:216161354-216161554	A549	lung:	n/a	chr1:216161451-216161462
40	CEBPB	chr1:216158272-216158472	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr1:216187839-216188126	A549	lung:	n/a	chr1:216187978-216187989 chr1:216187976-216187987
42	CEBPB	chr1:216158216-216158504	MCF-7	breast:	n/a	n/a
43	CEBPB	chr1:216207819-216208188	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr1:216160465-216160807	HepG2	liver:	n/a	chr1:216160606-216160617
45	CEBPB	chr1:216207838-216208151	HepG2	liver:	n/a	n/a
46	CEBPB	chr1:216218702-216219139	IMR90	lung:	n/a	n/a
47	CEBPB	chr1:216268780-216269010	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr1:216159806-216160213	IMR90	lung:	n/a	chr1:216160043-216160054 chr1:216160041-216160052
49	CEBPB	chr1:216238132-216238332	A549	lung:	n/a	chr1:216238191-216238202
50	CEBPB	chr1:216230416-216230691	HepG2	liver:	n/a	chr1:216230508-216230519 chr1:216230508-216230521

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:216144819-216144869	NH-A	brain:	n/a
2	chr1:216269240-216269290	GM12892	blood:	n/a
3	chr1:216144819-216144869	SKMC	muscle:	n/a
4	chr1:216144819-216144869	HCPEpiC	choroid plexus:	n/a
5	chr1:216144819-216144869	IMR90	lung:	fetal
6	chr1:216269240-216269290	CMK	blood:	n/a
7	chr1:216144819-216144869	H1-hESC	embryonic stem cell:	embryo
8	chr1:216144819-216144869	HCT-116	colon:	n/a
9	chr1:216269240-216269290	BJ	skin:	n/a
10	chr1:216144819-216144869	NHDF-neo	bronchial:	n/a
11	chr1:216269240-216269290	HRE	kidney:	n/a
12	chr1:216144819-216144869	AG10803	skin:	n/a
13	chr1:216144819-216144869	Hepatocyte	liver:	n/a
14	chr1:216269240-216269290	PANC-1	pancreas:	n/a
15	chr1:216144819-216144869	HCF	heart:	n/a
16	chr1:216269240-216269290	AG04449	skin:	fetal
17	chr1:216144819-216144869	HRPEpiC	eye:	n/a
18	chr1:216144819-216144869	SK-N-MC	brain:	n/a
19	chr1:216144819-216144869	CMK	blood:	n/a
20	chr1:216144819-216144869	GM12892	blood:	n/a
21	chr1:216269240-216269290	AoSMC	blood vessel:	n/a
22	chr1:216269240-216269290	HPAEpiC	pulmonary alveolar:	n/a
23	chr1:216144819-216144869	AG04449	skin:	fetal
24	chr1:216144819-216144869	PANC-1	pancreas:	n/a
25	chr1:216269240-216269290	K562	blood:	n/a
26	chr1:216144819-216144869	PFSK-1	brain:	n/a
27	chr1:216269240-216269290	NHDF-neo	bronchial:	n/a
28	chr1:216144819-216144869	GM06990	blood:	n/a
29	chr1:216269240-216269290	HNPCEpiC	eye:	n/a
30	chr1:216144819-216144869	HNPCEpiC	eye:	n/a
31	chr1:216144819-216144869	Caco-2	colon:	n/a
32	chr1:216269240-216269290	GM19239	blood:	n/a
33	chr1:216269240-216269290	AG09309	skin:	n/a
34	chr1:216269240-216269290	AG10803	skin:	n/a
35	chr1:216269240-216269290	RPTEC	kidney:	n/a
36	chr1:216269240-216269290	HCPEpiC	choroid plexus:	n/a
37	chr1:216269240-216269290	GM12878	blood:	n/a
38	chr1:216269240-216269290	ProgFib	skin:	n/a
39	chr1:216144819-216144869	AG09319	gingival:	n/a
40	chr1:216144819-216144869	HRCEpiC	kidney:	n/a
41	chr1:216269240-216269290	LNCaP	prostate:	n/a
42	chr1:216269240-216269290	Hepatocyte	liver:	n/a
43	chr1:216144819-216144869	Hela-S3	cervix:	n/a
44	chr1:216144819-216144869	K562	blood:	n/a
45	chr1:216269240-216269290	AG09319	gingival:	n/a
46	chr1:216269240-216269290	NH-A	brain:	n/a
47	chr1:216269240-216269290	HEEpiC	esophagus:	n/a
48	chr1:216269240-216269290	Jurkat	blood:	n/a
49	chr1:216144819-216144869	SAEC	small airway:	n/a
50	chr1:216144819-216144869	HIPEpiC	eye:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:216165794..216166615-chr1:216367342..216367871,2	MCF-7	breast:
2	chr1:216246066..216248106-chr1:216251823..216254349,2	K562	blood:
3	chr1:216164234..216166867-chr1:216167548..216169584,2	K562	blood:
4	chr1:216174957..216175816-chr1:216394270..216394785,2	MCF-7	breast:
5	chr1:216208048..216208557-chr1:216367548..216368089,2	MCF-7	breast:
6	chr1:216246066..216248106-chr1:216251823..216254349,2	K562	blood:
7	chr1:215883369..215884389-chr1:216165659..216166604,3	MCF-7	breast:
8	chr1:216139397..216141428-chr1:216167682..216169961,2	K562	blood:
9	chr1:216237367..216239431-chr1:216241282..216242934,2	MCF-7	breast:
10	chr1:216261476..216264118-chr1:216264483..216266208,2	K562	blood:
11	chr1:216158513..216161013-chr1:216166176..216168523,2	MCF-7	breast:
12	chr1:216173759..216174488-chr1:216367163..216367696,2	MCF-7	breast:
13	chr1:216237367..216239431-chr1:216241282..216242934,2	MCF-7	breast:
14	chr1:216165632..216166564-chr1:216394212..216395125,5	MCF-7	breast:
15	chr1:216164234..216166867-chr1:216167548..216169584,2	K562	blood:
16	chr1:216165696..216166649-chr1:216292836..216293591,2	MCF-7	breast:
17	chr1:216166090..216166621-chr1:216293129..216293695,2	MCF-7	breast:
18	chr1:216158513..216161013-chr1:216166176..216168523,2	MCF-7	breast:
19	chr1:216207908..216208562-chr1:216293070..216293728,3	MCF-7	breast:
20	chr1:216061603..216062225-chr1:216207802..216208490,2	MCF-7	breast:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD3-2	chr1:216252415-216252543	ENSG00000233620.1
2	lnc-KCTD3-2	chr1:216260064-216260259	ENSG00000233620.1
3	lnc-KCTD3-7	chr1:216159549-216160769	NONHSAT009477
4	lnc-KCTD3-2	chr1:216253307-216253383	ENSG00000233620.1
5	lnc-KCTD3-2	chr1:216246071-216246148	ENSG00000233620.1
6	lnc-KCTD3-2	chr1:216252415-216252543	ENSG00000233620.1
7	lnc-KCTD3-8	chr1:216271800-216271926	NONHSAT009482
8	lnc-KCTD3-2	chr1:216252415-216252543	ENSG00000233620.1
9	lnc-KCTD3-7	chr1:216158158-216158269	NONHSAT009477
10	lnc-KCTD3-2	chr1:216245807-216245942	ENSG00000233620.1
11	lnc-KCTD3-7	chr1:216151720-216151946	NONHSAT009477
12	lnc-KCTD3-2	chr1:216260064-216260247	ENSG00000233620.1
13	lnc-KCTD3-2	chr1:216260064-216260247	ENSG00000233620.1
14	lnc-KCTD3-8	chr1:216273538-216273625	NONHSAT009482
15	lnc-KCTD3-2	chr1:216260064-216260247	ENSG00000233620.1
16	lnc-KCTD3-2	chr1:216246148-216246306	ENSG00000233620.1

No data

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

Extended variants
information (count: 4431 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:4431 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11120704	chr1:216144827-216144828	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541410238	chr1:216144852-216144853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188422519	chr1:216144859-216144860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138017686	chr1:216144915-216144916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529864257	chr1:216144948-216144949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573942819	chr1:216144958-216144959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532353205	chr1:216144973-216144974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566855210	chr1:216145007-216145008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539125350	chr1:216145031-216145032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111487939	chr1:216145076-216145077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542847403	chr1:216145109-216145110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75269075	chr1:216145110-216145111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191784896	chr1:216145211-216145212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554977629	chr1:216145257-216145258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575035170	chr1:216145270-216145271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183471385	chr1:216145297-216145298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554337865	chr1:216145335-216145336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79248676	chr1:216145384-216145385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189217343	chr1:216145399-216145400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558160637	chr1:216145402-216145403	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs370428419	chr1:216145403-216145404	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs6701473	chr1:216145422-216145423	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116139189	chr1:216145428-216145429	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs548447208	chr1:216145443-216145444	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs117989592	chr1:216145470-216145471	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs560372433	chr1:216145476-216145477	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs542423	chr1:216145503-216145504	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552725521	chr1:216145524-216145525	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs72744645	chr1:216145539-216145540	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369233361	chr1:216145555-216145556	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs143113642	chr1:216145573-216145574	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs531744214	chr1:216145719-216145720	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs149080962	chr1:216145738-216145739	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs568703239	chr1:216145753-216145754	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs77109483	chr1:216145807-216145808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554107885	chr1:216145845-216145846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551894444	chr1:216145855-216145856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143092512	chr1:216145868-216145869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116612550	chr1:216145919-216145920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182376899	chr1:216145951-216145952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530544302	chr1:216145954-216145955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574954613	chr1:216145980-216145981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547022	chr1:216146032-216146033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2764947	chr1:216146064-216146065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574677676	chr1:216146111-216146112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540498038	chr1:216146150-216146151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560458466	chr1:216146266-216146267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116802588	chr1:216146312-216146313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1408959	chr1:216146315-216146316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148218994	chr1:216146320-216146321	Weak transcription	n/a	n/a	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
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD

Chromatin state (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216142600-216145600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:216143200-216146000	Enhancers	Fetal Heart	heart
3	chr1:216144000-216145600	Enhancers	NHLF	lung
4	chr1:216144200-216145400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:216144200-216145400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:216144200-216145400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:216144200-216150600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:216144400-216145400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:216145400-216145600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:216145400-216145800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:216145400-216145800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:216145400-216145800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:216145400-216145800	Bivalent Enhancer	Left Ventricle	heart
14	chr1:216145600-216145800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:216147600-216147800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:216148200-216148600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:216150400-216166200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:216154800-216155800	Enhancers	Fetal Intestine Large	intestine
19	chr1:216157000-216157600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:216157200-216157600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:216157600-216160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:216160000-216160400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:216160000-216161600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:216160400-216160800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:216160800-216161000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:216161000-216168000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:216164800-216165600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:216164800-216165600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:216164800-216165800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:216165000-216165200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:216165000-216166600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:216165200-216166200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:216165200-216166800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:216165600-216166200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:216166000-216166400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr1:216166000-216166600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:216166200-216166400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:216166200-216166600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr1:216166200-216167200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:216166400-216166600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:216166800-216174200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:216167200-216178000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:216167600-216168600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:216167800-216168600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:216167800-216168600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr1:216168000-216168200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:216168200-216168800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:216168800-216169000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:216174200-216174800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:216178800-216179800	Enhancers	Muscle Satellite Cultured Cells	--

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