Variant report

Variant	esv1838890
Chromosome Location	chr17:16690726-16737772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:273)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:16719169-16719457	K562	blood:	n/a	n/a
2	BACH1	chr17:16719341-16719384	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr17:16710949-16711369	GM12878	blood:	n/a	chr17:16711188-16711198 chr17:16711187-16711198
4	BATF	chr17:16711019-16711268	GM12878	blood:	n/a	chr17:16711188-16711198 chr17:16711187-16711198
5	CTCF	chr17:16733661-16733829	Fibrobl	skin:	n/a	n/a
6	CTCF	chr17:16709100-16709250	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr17:16722197-16722371	MCF-7	breast:	n/a	n/a
8	CTCF	chr17:16733419-16733507	Gliobla	brain:	n/a	n/a
9	CTCF	chr17:16733629-16733838	K562	blood:	n/a	n/a
10	CTCF	chr17:16733653-16733834	NHEK	skin:	n/a	n/a
11	CTCF	chr17:16722231-16722357	NHEK	skin:	n/a	n/a
12	CTCF	chr17:16733720-16733870	WERI-Rb-1	eye:	n/a	n/a
13	CTCF	chr17:16716458-16716534	GM13976	blood:	n/a	n/a
14	CTCF	chr17:16733640-16733790	GM12873	blood:	n/a	n/a
15	CTCF	chr17:16728574-16728654	Pancreas_OC	pancreas:	n/a	n/a
16	CTCF	chr17:16693608-16693964	A549	lung:	n/a	chr17:16693765-16693786 chr17:16693771-16693787
17	CTCF	chr17:16733538-16733923	A549	lung:	n/a	n/a
18	CTCF	chr17:16693534-16693984	A549	lung:	n/a	chr17:16693765-16693786 chr17:16693771-16693787
19	CTCF	chr17:16722269-16722281	GM12878	blood:	n/a	n/a
20	CTCF	chr17:16722203-16722363	GM12891	blood:	n/a	n/a
21	CTCF	chr17:16733600-16733750	HEK293	kidney:	n/a	n/a
22	CTCF	chr17:16733660-16733810	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr17:16709100-16709250	K562	blood:	n/a	n/a
24	CTCF	chr17:16733660-16733810	GM12864	blood:	n/a	n/a
25	CTCF	chr17:16722260-16722410	HCFaa	heart:	n/a	n/a
26	CTCF	chr17:16719200-16719350	HEEpiC	esophagus:	n/a	n/a
27	CTCF	chr17:16733619-16733830	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr17:16733626-16733849	MCF-7	breast:	n/a	n/a
29	CTCF	chr17:16693920-16694070	HMEC	breast:	n/a	n/a
30	CTCF	chr17:16733626-16733923	A549	lung:	n/a	n/a
31	CTCF	chr17:16722198-16722382	MCF-7	breast:	n/a	n/a
32	CTCF	chr17:16728404-16728468	LNCaP	prostate:	n/a	n/a
33	CTCF	chr17:16733671-16733828	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr17:16693743-16693772	HepG2	liver:	n/a	n/a
35	CTCF	chr17:16719220-16719370	SAEC	small airway:	n/a	n/a
36	CTCF	chr17:16713824-16713893	GM13976	blood:	n/a	n/a
37	CTCF	chr17:16733566-16733843	GM13977	blood:	n/a	n/a
38	CTCF	chr17:16729387-16729492	LNCaP	prostate:	n/a	n/a
39	CTCF	chr17:16733700-16733850	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr17:16693560-16693710	HVMF	connective:	n/a	n/a
41	CTCF	chr17:16733439-16733929	A549	lung:	n/a	n/a
42	CTCF	chr17:16693920-16694070	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr17:16693540-16693690	Caco-2	colon:	n/a	n/a
44	CTCF	chr17:16722227-16722361	LNCaP	prostate:	n/a	n/a
45	CTCF	chr17:16693701-16693855	GM13977	blood:	n/a	chr17:16693765-16693786 chr17:16693771-16693787
46	CTCF	chr17:16736862-16736941	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr17:16733760-16733910	HEK293	kidney:	n/a	n/a
48	CTCF	chr17:16721980-16722130	K562	blood:	n/a	n/a
49	CTCF	chr17:16725222-16725241	GM13976	blood:	n/a	n/a
50	CTCF	chr17:16733674-16733829	HUVEC	blood vessel:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16734819-16734869	HPAEpiC	pulmonary alveolar:	n/a
2	chr17:16693633-16693683	NB4	blood:	n/a
3	chr17:16693633-16693683	AG09309	skin:	n/a
4	chr17:16736463-16736513	PrEC	prostate:	n/a
5	chr17:16736463-16736513	IMR90	lung:	fetal
6	chr17:16737096-16737146	HEEpiC	esophagus:	n/a
7	chr17:16736463-16736513	AG04450	lung:	fetal
8	chr17:16734819-16734869	GM06990	blood:	n/a
9	chr17:16734819-16734869	H1-hESC	embryonic stem cell:	embryo
10	chr17:16736463-16736513	NHDF-neo	bronchial:	n/a
11	chr17:16693633-16693683	Jurkat	blood:	n/a
12	chr17:16734819-16734869	PANC-1	pancreas:	n/a
13	chr17:16737096-16737146	BJ	skin:	n/a
14	chr17:16737096-16737146	Caco-2	colon:	n/a
15	chr17:16737096-16737146	A549	lung:	n/a
16	chr17:16693633-16693683	HL-60	blood:	n/a
17	chr17:16693633-16693683	H1-hESC	embryonic stem cell:	embryo
18	chr17:16693633-16693683	PFSK-1	brain:	n/a
19	chr17:16734819-16734869	HCPEpiC	choroid plexus:	n/a
20	chr17:16737096-16737146	AG04450	lung:	fetal
21	chr17:16734819-16734869	PrEC	prostate:	n/a
22	chr17:16734819-16734869	AG10803	skin:	n/a
23	chr17:16736463-16736513	GM19239	blood:	n/a
24	chr17:16737096-16737146	HRPEpiC	eye:	n/a
25	chr17:16737096-16737146	NH-A	brain:	n/a
26	chr17:16734819-16734869	HL-60	blood:	n/a
27	chr17:16737096-16737146	GM12892	blood:	n/a
28	chr17:16737096-16737146	HCM	heart:	n/a
29	chr17:16734819-16734869	SK-N-MC	brain:	n/a
30	chr17:16734819-16734869	HAEpiC	amniotic membrane:	n/a
31	chr17:16693633-16693683	LNCaP	prostate:	n/a
32	chr17:16736463-16736513	HUVEC	blood vessel:	n/a
33	chr17:16734819-16734869	HIPEpiC	eye:	n/a
34	chr17:16737096-16737146	MCF10A-Er-Src	breast:	n/a
35	chr17:16734819-16734869	AG09319	gingival:	n/a
36	chr17:16737096-16737146	AG10803	skin:	n/a
37	chr17:16737096-16737146	SK-N-MC	brain:	n/a
38	chr17:16693633-16693683	K562	blood:	n/a
39	chr17:16736463-16736513	K562	blood:	n/a
40	chr17:16736463-16736513	HRCEpiC	kidney:	n/a
41	chr17:16734819-16734869	AG04450	lung:	fetal
42	chr17:16693633-16693683	HRCEpiC	kidney:	n/a
43	chr17:16693633-16693683	HCM	heart:	n/a
44	chr17:16693633-16693683	HCT-116	colon:	n/a
45	chr17:16737096-16737146	HepG2	liver:	n/a
46	chr17:16737096-16737146	IMR90	lung:	fetal
47	chr17:16737096-16737146	LNCaP	prostate:	n/a
48	chr17:16736463-16736513	SAEC	small airway:	n/a
49	chr17:16734819-16734869	HEEpiC	esophagus:	n/a
50	chr17:16736463-16736513	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16721818..16722353-chr17:16776583..16777108,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KRT17P1-1	chr17:16691922-16692548	ENSG00000264673.1
2	lnc-CCDC144A-1	chr17:16708772-16709021	ENSG00000264729.1
3	lnc-AC104024.2.1-3	chr17:16692215-16692721	NONHSAT146007
4	lnc-KRT17P1-1	chr17:16691562-16691620	ENSG00000264673.1
5	lnc-CCDC144A-4	chr17:16735634-16735881	NONHSAT146016
6	lnc-AC104024.2.1-3	chr17:16692057-16693815	NONHSAT146006
7	lnc-CCDC144A-4	chr17:16734662-16734742	NONHSAT146016
8	lnc-CCDC144A-1	chr17:16707941-16707992	ENSG00000264729.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	LOC162632	hsa-miR-26b-5p	chr17:16707023-16707045

Variant related genes	Relation type
ENSG00000226145	TF binding region
KRT16P2	TF binding region
FAM106CP	TF binding region
ENSG00000264673	TF binding region
USP32P1	TF binding region
ENSG00000272815	TF binding region
SRP68P1	TF binding region
ENSG00000264892	TF binding region
ENSG00000264729	TF binding region
ENSG00000226145	CpG island
KRT16P2	CpG island
FAM106CP	CpG island
ENSG00000264673	CpG island
USP32P1	CpG island
ENSG00000272815	CpG island
SRP68P1	CpG island
ENSG00000264892	CpG island
ENSG00000264729	CpG island

Extended variants
information (count: 1483 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:1483 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56164677	chr17:16690726-16690727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533123482	chr17:16690728-16690729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546574424	chr17:16690736-16690737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566782225	chr17:16690765-16690766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535933611	chr17:16690798-16690799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549218468	chr17:16690853-16690854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569385334	chr17:16690953-16690954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538463046	chr17:16690954-16690955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558453199	chr17:16691006-16691007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578245480	chr17:16691012-16691013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534522490	chr17:16691018-16691019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553799036	chr17:16691044-16691045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573597888	chr17:16691050-16691051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542668737	chr17:16691081-16691082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555990623	chr17:16691157-16691158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576161516	chr17:16691182-16691183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs628110	chr17:16691236-16691237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4792780	chr17:16691274-16691275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564773796	chr17:16691278-16691279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141864685	chr17:16691291-16691292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375688269	chr17:16691319-16691320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560455267	chr17:16691336-16691337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377009881	chr17:16691337-16691338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11355675	chr17:16691342-16691343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549429457	chr17:16691359-16691360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569267476	chr17:16691365-16691366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531874224	chr17:16691416-16691417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551980474	chr17:16691468-16691469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138059699	chr17:16691502-16691503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142561069	chr17:16691521-16691522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144308099	chr17:16691522-16691523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567209009	chr17:16691535-16691536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535893849	chr17:16691547-16691548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397833440	chr17:16691556-16691557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs8068676	chr17:16691558-16691559	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575716281	chr17:16691595-16691596	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs4791689	chr17:16691629-16691630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558330073	chr17:16691638-16691639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571916956	chr17:16691648-16691649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540878964	chr17:16691650-16691651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561046536	chr17:16691655-16691656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529249498	chr17:16691707-16691708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542640497	chr17:16691782-16691783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182656383	chr17:16691879-16691880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553561844	chr17:16691929-16691930	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs531837233	chr17:16691975-16691976	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs187305562	chr17:16692027-16692028	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs372745246	chr17:16692035-16692036	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs571830825	chr17:16692071-16692072	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs527892050	chr17:16692072-16692073	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:159)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16685200-16695400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr17:16689000-16697600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:16689600-16711600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr17:16690000-16706000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr17:16690400-16696000	Weak transcription	Brain Anterior Caudate	brain
6	chr17:16691200-16691600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:16692800-16693000	Enhancers	Duodenum Mucosa	Duodenum
8	chr17:16693000-16697600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr17:16695400-16695600	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr17:16697600-16698000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr17:16697600-16698000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:16697600-16698000	Enhancers	Duodenum Mucosa	Duodenum
13	chr17:16697600-16698000	Enhancers	A549	lung
14	chr17:16697600-16698000	Enhancers	K562	blood
15	chr17:16697800-16698000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:16698000-16704200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:16698000-16710800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr17:16698000-16711800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:16698800-16705200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:16700000-16700200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr17:16700200-16708200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr17:16708200-16708600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr17:16708200-16708600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:16708200-16708600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr17:16711600-16711800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr17:16716600-16723200	Weak transcription	Right Atrium	heart
27	chr17:16717200-16720000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:16717400-16717600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr17:16717400-16717800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:16717600-16717800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:16717600-16718000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr17:16717600-16718200	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr17:16717600-16718200	Enhancers	Right Ventricle	heart
34	chr17:16717600-16718200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr17:16717800-16719000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr17:16718000-16719000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr17:16718000-16719000	ZNF genes & repeats	Spleen	Spleen
38	chr17:16718600-16719200	Enhancers	A549	lung
39	chr17:16718600-16720600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr17:16719000-16719200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:16719000-16719200	Enhancers	NHEK	skin
42	chr17:16719000-16719400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:16719000-16723200	Weak transcription	Spleen	Spleen
44	chr17:16719000-16724000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr17:16719200-16720600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:16719200-16723600	Weak transcription	NHEK	skin
47	chr17:16719400-16720200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr17:16720200-16722400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr17:16720600-16722200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr17:16720600-16723000	Strong transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links