Variant report

Variant	nsv543259
Chromosome Location	chr17:19947874-19986671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:417)
CpG islands
(count:550)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr17:19963102-19963433	K562	blood:	n/a	n/a
2	ATF3	chr17:19969441-19970014	A549	lung:	n/a	n/a
3	ATF3	chr17:19966832-19967900	A549	lung:	n/a	n/a
4	ATF3	chr17:19967061-19967911	A549	lung:	n/a	n/a
5	BACH1	chr17:19963064-19963495	K562	blood:	n/a	n/a
6	BACH1	chr17:19967609-19967801	H1-hESC	embryonic stem cell:	n/a	chr17:19967640-19967654
7	BATF	chr17:19963017-19963400	GM12878	blood:	n/a	chr17:19963216-19963227
8	BATF	chr17:19963071-19963415	GM12878	blood:	n/a	chr17:19963216-19963227
9	BATF	chr17:19967378-19967754	GM12878	blood:	n/a	chr17:19967620-19967628
10	BATF	chr17:19966863-19967096	GM12878	blood:	n/a	n/a
11	BCL3	chr17:19966776-19968181	A549	lung:	n/a	chr17:19967643-19967652 chr17:19967642-19967651 chr17:19967285-19967294
12	BCL3	chr17:19966728-19967940	A549	lung:	n/a	chr17:19967643-19967652 chr17:19967642-19967651 chr17:19967285-19967294
13	BHLHE40	chr17:19977155-19977165	K562	blood:	n/a	n/a
14	BHLHE40	chr17:19967449-19967816	GM12878	blood:	n/a	n/a
15	BHLHE40	chr17:19963048-19963388	K562	blood:	n/a	n/a
16	BHLHE40	chr17:19981399-19981679	GM12878	blood:	n/a	n/a
17	BRCA1	chr17:19966829-19967649	Hela-S3	cervix:	n/a	chr17:19967166-19967173
18	CBX3	chr17:19956856-19957270	K562	blood:	n/a	n/a
19	CBX3	chr17:19962970-19963510	K562	blood:	n/a	n/a
20	CCNT2	chr17:19963142-19963357	K562	blood:	n/a	n/a
21	CEBPB	chr17:19956882-19957246	K562	blood:	n/a	chr17:19957064-19957075
22	CEBPB	chr17:19977397-19977746	A549	lung:	n/a	n/a
23	CEBPB	chr17:19977475-19977675	HepG2	liver:	n/a	n/a
24	CEBPB	chr17:19966990-19967863	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr17:19963058-19963354	K562	blood:	n/a	n/a
26	CEBPB	chr17:19966772-19968038	A549	lung:	n/a	n/a
27	CEBPB	chr17:19956982-19957223	H1-hESC	embryonic stem cell:	n/a	chr17:19957064-19957075
28	CEBPB	chr17:19957003-19957201	K562	blood:	n/a	chr17:19957064-19957075
29	CEBPB	chr17:19964797-19964989	A549	lung:	n/a	n/a
30	CEBPB	chr17:19956925-19957177	IMR90	lung:	n/a	chr17:19957064-19957075
31	CEBPB	chr17:19956934-19957233	Hela-S3	cervix:	n/a	chr17:19957064-19957075
32	CEBPB	chr17:19956950-19957150	HepG2	liver:	n/a	chr17:19957064-19957075
33	CEBPB	chr17:19956920-19957225	A549	lung:	n/a	chr17:19957064-19957075
34	CEBPB	chr17:19977406-19977677	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr17:19967571-19967742	K562	blood:	n/a	n/a
36	CEBPB	chr17:19956891-19957255	K562	blood:	n/a	chr17:19957064-19957075
37	CEBPB	chr17:19967280-19967808	IMR90	lung:	n/a	n/a
38	CEBPB	chr17:19967420-19967731	MCF-7	breast:	n/a	n/a
39	CEBPB	chr17:19967177-19967853	HCT-116	colon:	n/a	n/a
40	CEBPB	chr17:19977414-19977730	IMR90	lung:	n/a	n/a
41	CEBPB	chr17:19963013-19963385	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr17:19967500-19967755	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr17:19967250-19967807	A549	lung:	n/a	n/a
44	CEBPB	chr17:19976727-19977036	K562	blood:	n/a	n/a
45	CEBPB	chr17:19986566-19987181	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr17:19967115-19967860	A549	lung:	n/a	n/a
47	CHD2	chr17:19967110-19967827	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr17:19963081-19963340	Hela-S3	cervix:	n/a	n/a
49	CREB1	chr17:19967193-19967721	A549	lung:	n/a	n/a
50	CREB1	chr17:19967239-19967978	A549	lung:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:19958833-19958883	NHBE	bronchial:	n/a
2	chr17:19958833-19958883	NHBE	bronchial:	n/a
3	chr17:19977025-19977075	AG09309	skin:	n/a
4	chr17:19957951-19958001	AoSMC	blood vessel:	n/a
5	chr17:19976435-19976485	T-47D	breast:	n/a
6	chr17:19976888-19976938	AG09319	gingival:	n/a
7	chr17:19958833-19958883	ovcar-3	ovarian:	n/a
8	chr17:19976888-19976938	ovcar-3	ovarian:	n/a
9	chr17:19976820-19976870	IMR90	lung:	fetal
10	chr17:19977156-19977206	BJ	skin:	n/a
11	chr17:19977025-19977075	HPAEpiC	pulmonary alveolar:	n/a
12	chr17:19976435-19976485	Hepatocyte	liver:	n/a
13	chr17:19977156-19977206	HEEpiC	esophagus:	n/a
14	chr17:19957951-19958001	Caco-2	colon:	n/a
15	chr17:19976820-19976870	SKMC	muscle:	n/a
16	chr17:19977156-19977206	PFSK-1	brain:	n/a
17	chr17:19957951-19958001	NT2-D1	testis:	n/a
18	chr17:19958833-19958883	HRE	kidney:	n/a
19	chr17:19957951-19958001	GM12891	blood:	n/a
20	chr17:19976435-19976485	GM12891	blood:	n/a
21	chr17:19976435-19976485	HCM	heart:	n/a
22	chr17:19957951-19958001	HUVEC	blood vessel:	n/a
23	chr17:19976569-19976619	BJ	skin:	n/a
24	chr17:19977025-19977075	HL-60	blood:	n/a
25	chr17:19957951-19958001	SK-N-SH	brain:	n/a
26	chr17:19976435-19976485	HCT-116	colon:	n/a
27	chr17:19976888-19976938	HMEC	breast:	n/a
28	chr17:19976820-19976870	GM12892	blood:	n/a
29	chr17:19976820-19976870	AG09319	gingival:	n/a
30	chr17:19958833-19958883	AG04449	skin:	fetal
31	chr17:19977156-19977206	HepG2	liver:	n/a
32	chr17:19977025-19977075	A549	lung:	n/a
33	chr17:19976569-19976619	PrEC	prostate:	n/a
34	chr17:19976569-19976619	HPAEpiC	pulmonary alveolar:	n/a
35	chr17:19976820-19976870	GM12878	blood:	n/a
36	chr17:19957951-19958001	AG10803	skin:	n/a
37	chr17:19977025-19977075	ECC-1	luminal epithelium:	n/a
38	chr17:19977156-19977206	GM19239	blood:	n/a
39	chr17:19958833-19958883	HepG2	liver:	n/a
40	chr17:19977156-19977206	GM06990	blood:	n/a
41	chr17:19977156-19977206	HCT-116	colon:	n/a
42	chr17:19967600-19967650	AoSMC	blood vessel:	n/a
43	chr17:19976569-19976619	BE2_C	brain:	n/a
44	chr17:19976569-19976619	HCPEpiC	choroid plexus:	n/a
45	chr17:19976569-19976619	PFSK-1	brain:	n/a
46	chr17:19977025-19977075	HAEpiC	amniotic membrane:	n/a
47	chr17:19976569-19976619	RPTEC	kidney:	n/a
48	chr17:19976888-19976938	GM12878	blood:	n/a
49	chr17:19976820-19976870	HCPEpiC	choroid plexus:	n/a
50	chr17:19957951-19958001	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr17:19957236..19958763-chr17:19963646..19966262,2	K562	blood:
2	chr17:19911303..19913240-chr17:19956508..19959161,2	K562	blood:
3	chr17:19957156..19957918-chr17:21191377..21192085,2	Hela-S3	cervix:
4	chr17:19977490..19979191-chr17:19979596..19981343,3	K562	blood:
5	chr17:19937388..19940075-chr17:19983196..19985381,2	K562	blood:
6	chr17:19957236..19958763-chr17:19963646..19966262,2	K562	blood:
7	chr17:19950835..19953752-chr17:19957285..19959162,2	K562	blood:
8	chr17:19968366..19971669-chr17:19975346..19978393,3	MCF-7	breast:
9	chr17:19977490..19979005-chr17:19979596..19981343,2	K562	blood:
10	chr17:19977490..19979005-chr17:19979596..19981343,2	K562	blood:
11	chr17:19945642..19947610-chr17:19953431..19955992,2	MCF-7	breast:
12	chr17:19950835..19953752-chr17:19957285..19959162,2	K562	blood:
13	chr17:19977490..19979191-chr17:19979596..19981343,3	K562	blood:
14	chr17:19969588..19972096-chr17:19993265..19995045,2	K562	blood:
15	chr17:19980057..19981963-chr17:19993152..19995446,2	K562	blood:
16	chr17:19980691..19982440-chr17:19988864..19991537,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC144C-5	chr17:19959600-19959943	NONHSAT146540

No data

Variant related genes	Relation type
SPECC1	TF binding region
ENSG00000225681	TF binding region
SPECC1	CpG island
ENSG00000225681	CpG island
ENSG00000128487	chromatin interactions
ENSG00000261033	chromatin interactions

Extended variants
information (count: 1532 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:1532 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374674946	chr17:19947885-19947886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550544689	chr17:19947895-19947896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570451891	chr17:19947922-19947923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539343933	chr17:19947934-19947935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368058103	chr17:19947955-19947956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3909257	chr17:19947962-19947963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs535549495	chr17:19947975-19947976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555143955	chr17:19947993-19947994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184879612	chr17:19948037-19948038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537877830	chr17:19948061-19948062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557779432	chr17:19948092-19948093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577660349	chr17:19948101-19948102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77090106	chr17:19948145-19948146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
14	rs189262131	chr17:19948199-19948200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573323027	chr17:19948226-19948227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559450147	chr17:19948237-19948238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181617611	chr17:19948249-19948250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530901378	chr17:19948272-19948273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144007170	chr17:19948286-19948287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371854323	chr17:19948287-19948288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184832601	chr17:19948298-19948299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116034448	chr17:19948379-19948380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62067483	chr17:19948394-19948395	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs535996010	chr17:19948434-19948435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371988253	chr17:19948485-19948486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566684081	chr17:19948495-19948496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535320227	chr17:19948496-19948497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546649292	chr17:19948520-19948521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566969719	chr17:19948537-19948538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549147656	chr17:19948599-19948600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548392600	chr17:19948626-19948627	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539186105	chr17:19948632-19948633	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11416007	chr17:19948663-19948664	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575580503	chr17:19948683-19948684	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189730582	chr17:19948701-19948702	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7207702	chr17:19948711-19948712	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574164030	chr17:19948724-19948725	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11416006	chr17:19948744-19948745	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571223213	chr17:19948776-19948777	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116044023	chr17:19948777-19948778	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181198741	chr17:19948799-19948800	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531414395	chr17:19948930-19948931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141643733	chr17:19948940-19948941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113439143	chr17:19948985-19948986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369021950	chr17:19948993-19948994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574920541	chr17:19948998-19948999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555537028	chr17:19949035-19949036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150500984	chr17:19949052-19949053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs60861532	chr17:19949086-19949087	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139528313	chr17:19949092-19949093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:151)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Autism	22543975	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:710 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19923400-19956600	Weak transcription	A549	lung
2	chr17:19932000-19956800	Weak transcription	Ovary	ovary
3	chr17:19942800-19950400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr17:19943800-19965800	Weak transcription	Aorta	Aorta
5	chr17:19944000-19950000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:19945800-19956000	Weak transcription	K562	blood
7	chr17:19947000-19948200	Enhancers	Brain Angular Gyrus	brain
8	chr17:19947000-19948600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr17:19947000-19948800	Weak transcription	Fetal Thymus	thymus
10	chr17:19947000-19953000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:19947200-19948200	Enhancers	Brain Anterior Caudate	brain
12	chr17:19947200-19948600	Enhancers	Brain Substantia Nigra	brain
13	chr17:19947400-19949000	Enhancers	Brain Cingulate Gyrus	brain
14	chr17:19947800-19948600	Weak transcription	Brain Hippocampus Middle	brain
15	chr17:19947800-19948800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr17:19948200-19966400	Weak transcription	Brain Angular Gyrus	brain
17	chr17:19948600-19948800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr17:19948600-19948800	Enhancers	Brain Hippocampus Middle	brain
19	chr17:19948800-19949400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:19948800-19949600	Enhancers	Fetal Thymus	thymus
21	chr17:19949400-19953200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr17:19949800-19950600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr17:19950000-19950200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:19950000-19950200	Enhancers	Left Ventricle	heart
25	chr17:19950000-19950400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr17:19950000-19950400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr17:19950000-19950400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:19950000-19950400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:19950000-19950600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr17:19950000-19950600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr17:19950000-19950800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr17:19950000-19950800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr17:19950200-19950600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr17:19950400-19950800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
35	chr17:19950600-19950800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr17:19950800-19966400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr17:19951200-19956800	Weak transcription	Left Ventricle	heart
38	chr17:19956000-19957000	ZNF genes & repeats	K562	blood
39	chr17:19956600-19957000	Weak transcription	Brain Hippocampus Middle	brain
40	chr17:19956600-19957400	ZNF genes & repeats	A549	lung
41	chr17:19956800-19957000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr17:19956800-19957000	ZNF genes & repeats	Ovary	ovary
43	chr17:19956800-19957200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr17:19956800-19957200	ZNF genes & repeats	Left Ventricle	heart
45	chr17:19956800-19957400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr17:19956800-19957400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
47	chr17:19957000-19957200	ZNF genes & repeats	Brain Hippocampus Middle	brain
48	chr17:19957000-19962600	Weak transcription	K562	blood
49	chr17:19957000-19965800	Weak transcription	Ovary	ovary
50	chr17:19957000-19967000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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