Variant report

Variant	nsv962453
Chromosome Location	chr17:17060402-17074198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:733)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr17:17063092-17063130	A549	lung:	n/a	n/a
2	CEBPB	chr17:17072947-17073152	A549	lung:	n/a	chr17:17073036-17073049
3	CTCF	chr17:17071340-17071490	HepG2	liver:	n/a	chr17:17071424-17071433
4	CTCF	chr17:17062440-17062590	SAEC	small airway:	n/a	n/a
5	CTCF	chr17:17071260-17071410	MCF-7	breast:	n/a	n/a
6	CTCF	chr17:17066200-17066350	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr17:17066280-17066430	HepG2	liver:	n/a	n/a
8	CTCF	chr17:17066380-17066530	HCPEpiC	choroid plexus:	n/a	chr17:17066481-17066494
9	CTCF	chr17:17071380-17071530	A549	lung:	n/a	chr17:17071424-17071433
10	CTCF	chr17:17069142-17069148	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr17:17071380-17071490	MCF-7	breast:	n/a	chr17:17071424-17071433
12	CTCF	chr17:17071376-17071468	H1-hESC	embryonic stem cell:	n/a	chr17:17071424-17071433
13	E2F4	chr17:17073878-17073895	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr17:17073777-17073912	MCF10A-Er-Src	breast:	n/a	n/a
15	IRF3	chr17:17066818-17066821	GM12878	blood:	n/a	n/a
16	MAFK	chr17:17063841-17064007	HepG2	liver:	n/a	n/a
17	MYC	chr17:17073706-17073887	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr17:17073686-17073936	MCF10A-Er-Src	breast:	n/a	n/a
19	MYC	chr17:17070766-17070826	MCF-7	breast:	n/a	n/a
20	POLR2A	chr17:17062930-17062985	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr17:17065141-17065682	U87	brain:	n/a	n/a
22	POLR2A	chr17:17065101-17065290	U87	brain:	n/a	n/a
23	POLR2A	chr17:17070600-17070970	GM12878	blood:	n/a	n/a
24	POLR2A	chr17:17071277-17071321	HepG2	liver:	n/a	n/a
25	POLR2A	chr17:17073825-17073840	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr17:17068439-17068486	GM12878	blood:	n/a	n/a
27	POLR2A	chr17:17065444-17065508	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr17:17069213-17069229	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr17:17068043-17068185	MCF-7	breast:	n/a	n/a
30	POLR2A	chr17:17062606-17062637	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr17:17070899-17070927	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr17:17074186-17074953	U87	brain:	n/a	n/a
33	POLR2A	chr17:17062494-17062938	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr17:17068245-17068271	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr17:17072178-17072261	MCF-7	breast:	n/a	n/a
36	POLR2A	chr17:17070707-17070733	K562	blood:	n/a	n/a
37	POLR2A	chr17:17072059-17072292	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr17:17072861-17072915	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr17:17074186-17074864	U87	brain:	n/a	n/a
40	POLR2A	chr17:17061310-17061427	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr17:17065141-17065532	U87	brain:	n/a	n/a
42	POLR2A	chr17:17064678-17064867	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr17:17068298-17068338	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr17:17061291-17061295	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr17:17074141-17074310	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr17:17069422-17069658	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr17:17074109-17074936	A549	lung:	n/a	n/a
48	POLR2A	chr17:17071789-17072281	A549	lung:	n/a	n/a
49	POLR2A	chr17:17070589-17070850	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr17:17071077-17071364	Hela-S3	cervix:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17064703-17064753	HIPEpiC	eye:	n/a
2	chr17:17064703-17064753	HIPEpiC	eye:	n/a
3	chr17:17071594-17071644	AG04449	skin:	fetal
4	chr17:17068185-17068235	PrEC	prostate:	n/a
5	chr17:17062215-17062265	NB4	blood:	n/a
6	chr17:17064703-17064753	HL-60	blood:	n/a
7	chr17:17067814-17067864	GM12892	blood:	n/a
8	chr17:17068872-17068922	K562	blood:	n/a
9	chr17:17062215-17062265	IMR90	lung:	fetal
10	chr17:17062215-17062265	HAEpiC	amniotic membrane:	n/a
11	chr17:17062215-17062265	HUVEC	blood vessel:	n/a
12	chr17:17067899-17067949	NHBE	bronchial:	n/a
13	chr17:17062185-17062235	ECC-1	luminal epithelium:	n/a
14	chr17:17061915-17061965	HPAEpiC	pulmonary alveolar:	n/a
15	chr17:17071594-17071644	HNPCEpiC	eye:	n/a
16	chr17:17071594-17071644	AG09309	skin:	n/a
17	chr17:17061915-17061965	HL-60	blood:	n/a
18	chr17:17062215-17062265	NHBE	bronchial:	n/a
19	chr17:17064703-17064753	PFSK-1	brain:	n/a
20	chr17:17062215-17062265	HNPCEpiC	eye:	n/a
21	chr17:17062215-17062265	AG04450	lung:	fetal
22	chr17:17068872-17068922	HCF	heart:	n/a
23	chr17:17062215-17062265	H1-hESC	embryonic stem cell:	embryo
24	chr17:17061977-17062027	PrEC	prostate:	n/a
25	chr17:17068872-17068922	NT2-D1	testis:	n/a
26	chr17:17067814-17067864	BE2_C	brain:	n/a
27	chr17:17067814-17067864	HMEC	breast:	n/a
28	chr17:17062215-17062265	GM06990	blood:	n/a
29	chr17:17067899-17067949	K562	blood:	n/a
30	chr17:17062185-17062235	AG04449	skin:	fetal
31	chr17:17067899-17067949	CMK	blood:	n/a
32	chr17:17067814-17067864	AG09319	gingival:	n/a
33	chr17:17062185-17062235	HAEpiC	amniotic membrane:	n/a
34	chr17:17071594-17071644	HCT-116	colon:	n/a
35	chr17:17067899-17067949	MCF10A-Er-Src	breast:	n/a
36	chr17:17064703-17064753	T-47D	breast:	n/a
37	chr17:17061915-17061965	PrEC	prostate:	n/a
38	chr17:17067680-17067730	ECC-1	luminal epithelium:	n/a
39	chr17:17068872-17068922	Hepatocyte	liver:	n/a
40	chr17:17068185-17068235	HNPCEpiC	eye:	n/a
41	chr17:17062185-17062235	SAEC	small airway:	n/a
42	chr17:17064703-17064753	RPTEC	kidney:	n/a
43	chr17:17064703-17064753	AG04449	skin:	fetal
44	chr17:17062185-17062235	AG04450	lung:	fetal
45	chr17:17062185-17062235	NB4	blood:	n/a
46	chr17:17067899-17067949	RPTEC	kidney:	n/a
47	chr17:17061977-17062027	T-47D	breast:	n/a
48	chr17:17064703-17064753	A549	lung:	n/a
49	chr17:17061977-17062027	AG10803	skin:	n/a
50	chr17:17061977-17062027	CMK	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17066787..17068733-chr17:17069021..17071399,2	K562	blood:
2	chr17:16944952..16946961-chr17:17072835..17074607,2	K562	blood:
3	chr17:17070889..17072522-chr17:17183003..17185997,2	K562	blood:
4	chr17:17042215..17045044-chr17:17066488..17068871,2	K562	blood:
5	chr17:17066787..17068733-chr17:17069021..17071399,2	K562	blood:
6	chr17:17071363..17073893-chr17:17074535..17076823,2	K562	blood:
7	chr17:17068043..17070148-chr17:17079607..17081200,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLD6-1	chr17:17071260-17072423	ENSG00000263624.1

No data

Variant related genes	Relation type
RNU6-767P	TF binding region
MPRIP	TF binding region
RNU6-767P	CpG island
MPRIP	CpG island
ENSG00000141030	chromatin interactions
ENSG00000133030	chromatin interactions

Extended variants
information (count: 541 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573478834	chr17:17060404-17060405	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs145077788	chr17:17060430-17060431	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs114659494	chr17:17060522-17060523	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs186348473	chr17:17060586-17060587	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs544555582	chr17:17060641-17060642	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs149097131	chr17:17060655-17060656	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs111303845	chr17:17060666-17060667	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs143132099	chr17:17060669-17060670	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs7217091	chr17:17060805-17060806	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs138783514	chr17:17060838-17060839	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529098901	chr17:17060887-17060888	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549126993	chr17:17060891-17060892	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568605475	chr17:17060918-17060919	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191352192	chr17:17060927-17060928	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538188068	chr17:17060935-17060936	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561776787	chr17:17061011-17061012	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143123829	chr17:17061018-17061019	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570869014	chr17:17061091-17061092	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571023005	chr17:17061116-17061117	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75834633	chr17:17061142-17061143	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78502412	chr17:17061145-17061146	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539800813	chr17:17061152-17061153	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4078674	chr17:17061180-17061181	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553528488	chr17:17061207-17061208	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3893670	chr17:17061214-17061215	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182844130	chr17:17061218-17061219	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538375986	chr17:17061255-17061256	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555954089	chr17:17061287-17061288	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546326849	chr17:17061297-17061298	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575743743	chr17:17061317-17061318	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs79844947	chr17:17061346-17061347	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs74743252	chr17:17061369-17061370	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs77151434	chr17:17061385-17061386	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs532768133	chr17:17061387-17061388	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs185425374	chr17:17061390-17061391	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs368948337	chr17:17061473-17061474	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117340532	chr17:17061535-17061536	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529017729	chr17:17061575-17061576	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200671559	chr17:17061703-17061704	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569074758	chr17:17061758-17061759	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551557602	chr17:17061760-17061761	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78095538	chr17:17061766-17061767	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146449381	chr17:17061797-17061798	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555403048	chr17:17061804-17061805	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377463769	chr17:17061819-17061820	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140738025	chr17:17061835-17061836	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs61731612	chr17:17061843-17061844	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149672701	chr17:17061858-17061859	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571540753	chr17:17061860-17061861	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539860495	chr17:17061861-17061862	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:161)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	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
Acute myeloid leukemia	17237825	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
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	21811587	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
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	18160780	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
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17029800-17088400	Strong transcription	Dnd41	blood
2	chr17:17030000-17088000	Strong transcription	Duodenum Mucosa	Duodenum
3	chr17:17030400-17079200	Strong transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:17030400-17089200	Strong transcription	Fetal Intestine Large	intestine
5	chr17:17031000-17078800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr17:17031200-17067800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr17:17032000-17073800	Strong transcription	Fetal Lung	lung
8	chr17:17032200-17073600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:17034800-17072800	Strong transcription	Placenta Amnion	Placenta Amnion
10	chr17:17037200-17074200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:17038400-17093800	Strong transcription	Fetal Brain Female	brain
12	chr17:17044200-17083600	Strong transcription	Thymus	Thymus
13	chr17:17045000-17088400	Strong transcription	Brain Germinal Matrix	brain
14	chr17:17045200-17071600	Strong transcription	Primary B cells from cord blood	blood
15	chr17:17045200-17075600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr17:17045200-17093800	Strong transcription	Fetal Stomach	stomach
17	chr17:17045600-17071000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr17:17045600-17072800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:17045800-17065600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr17:17047600-17066200	Weak transcription	K562	blood
21	chr17:17050400-17073800	Strong transcription	Fetal Muscle Leg	muscle
22	chr17:17051000-17093200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr17:17053000-17078000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr17:17053200-17060600	Genic enhancers	NHEK	skin
25	chr17:17053200-17060800	Genic enhancers	HMEC	breast
26	chr17:17053200-17061000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr17:17053200-17067200	Strong transcription	HepG2	liver
28	chr17:17053200-17072600	Strong transcription	Pancreas	Pancrea
29	chr17:17053200-17074600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:17053200-17088200	Strong transcription	Gastric	stomach
31	chr17:17053400-17062800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:17053600-17060600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:17054000-17062200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr17:17054200-17061800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr17:17054600-17064000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr17:17054600-17067000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr17:17054800-17087000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr17:17055200-17065600	Strong transcription	GM12878-XiMat	blood
39	chr17:17055200-17073000	Strong transcription	Placenta	Placenta
40	chr17:17055200-17089400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr17:17055400-17071400	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr17:17055400-17072400	Strong transcription	Ovary	ovary
43	chr17:17055600-17064000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:17055600-17092600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr17:17055800-17061800	Strong transcription	Hela-S3	cervix
46	chr17:17055800-17064200	Genic enhancers	Fetal Thymus	thymus
47	chr17:17055800-17092600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr17:17056000-17060800	Strong transcription	HUVEC	blood vessel
49	chr17:17056000-17093600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr17:17056200-17061000	Strong transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links