Variant report

Variant	nsv574522
Chromosome Location	chr17:16722240-16758204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:194)
CpG islands
(count:305)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:194 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:16740285-16740372	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr17:16756731-16756825	GM13977	blood:	n/a	n/a
3	CTCF	chr17:16740177-16740406	A549	lung:	n/a	n/a
4	CTCF	chr17:16749230-16749266	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr17:16749233-16749287	LNCaP	prostate:	n/a	n/a
6	CTCF	chr17:16753405-16753615	Lung_OC	lung:	n/a	n/a
7	CTCF	chr17:16753766-16753829	GM13977	blood:	n/a	n/a
8	CTCF	chr17:16733640-16733790	HCM	heart:	n/a	n/a
9	CTCF	chr17:16726160-16726218	GM20000	blood:	n/a	n/a
10	CTCF	chr17:16722227-16722361	LNCaP	prostate:	n/a	n/a
11	CTCF	chr17:16751281-16751329	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr17:16722260-16722410	HCFaa	heart:	n/a	n/a
13	CTCF	chr17:16733700-16733850	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr17:16742680-16742684	Medullo	brain:	n/a	n/a
15	CTCF	chr17:16722203-16722355	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr17:16733676-16733836	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr17:16752505-16752565	GM12892	blood:	n/a	n/a
18	CTCF	chr17:16740250-16740349	GM10266	blood:	n/a	n/a
19	CTCF	chr17:16733620-16733770	HCT-116	colon:	n/a	n/a
20	CTCF	chr17:16733624-16733833	Pancreas_OC	pancreas:	n/a	n/a
21	CTCF	chr17:16735283-16735344	GM10248	blood:	n/a	n/a
22	CTCF	chr17:16733600-16733825	LNCaP	prostate:	n/a	n/a
23	CTCF	chr17:16733629-16733838	K562	blood:	n/a	n/a
24	CTCF	chr17:16722218-16722341	A549	lung:	n/a	n/a
25	CTCF	chr17:16755109-16755234	Spleen_OC	spleen:	n/a	n/a
26	CTCF	chr17:16728574-16728654	Pancreas_OC	pancreas:	n/a	n/a
27	CTCF	chr17:16733655-16733793	Lung_OC	lung:	n/a	n/a
28	CTCF	chr17:16742689-16742755	Medullo	brain:	n/a	n/a
29	CTCF	chr17:16733694-16733825	GM19240	blood:	n/a	n/a
30	CTCF	chr17:16722160-16722310	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr17:16733525-16733890	K562	blood:	n/a	n/a
32	CTCF	chr17:16749907-16749962	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr17:16734499-16734511	GM10248	blood:	n/a	n/a
34	CTCF	chr17:16733687-16733831	MCF-7	breast:	n/a	n/a
35	CTCF	chr17:16736606-16736680	GM10248	blood:	n/a	n/a
36	CTCF	chr17:16722180-16722330	A549	lung:	n/a	n/a
37	CTCF	chr17:16722200-16722350	AG09309	skin:	n/a	n/a
38	CTCF	chr17:16733693-16733831	GM19238	blood:	n/a	n/a
39	CTCF	chr17:16755687-16755698	Lung_OC	lung:	n/a	n/a
40	CTCF	chr17:16749302-16749401	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr17:16733626-16733849	MCF-7	breast:	n/a	n/a
42	CTCF	chr17:16733619-16733830	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr17:16733640-16733790	A549	lung:	n/a	n/a
44	CTCF	chr17:16726027-16726055	LNCaP	prostate:	n/a	n/a
45	CTCF	chr17:16733538-16733923	A549	lung:	n/a	n/a
46	CTCF	chr17:16752663-16752686	LNCaP	prostate:	n/a	n/a
47	CTCF	chr17:16733664-16733837	GM12892	blood:	n/a	n/a
48	CTCF	chr17:16733720-16733870	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr17:16733674-16733829	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr17:16733599-16733817	GM20000	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16734819-16734869	GM06990	blood:	n/a
2	chr17:16734819-16734869	ECC-1	luminal epithelium:	n/a
3	chr17:16757356-16757406	NT2-D1	testis:	n/a
4	chr17:16734819-16734869	HNPCEpiC	eye:	n/a
5	chr17:16757356-16757406	SK-N-MC	brain:	n/a
6	chr17:16757305-16757355	HIPEpiC	eye:	n/a
7	chr17:16757305-16757355	H1-hESC	embryonic stem cell:	embryo
8	chr17:16757356-16757406	AG04450	lung:	fetal
9	chr17:16757356-16757406	HL-60	blood:	n/a
10	chr17:16736463-16736513	HepG2	liver:	n/a
11	chr17:16757305-16757355	HRE	kidney:	n/a
12	chr17:16737096-16737146	HEK293	kidney:	embryo
13	chr17:16757356-16757406	HCF	heart:	n/a
14	chr17:16734819-16734869	HCM	heart:	n/a
15	chr17:16736463-16736513	PANC-1	pancreas:	n/a
16	chr17:16757305-16757355	SK-N-MC	brain:	n/a
17	chr17:16737096-16737146	HCF	heart:	n/a
18	chr17:16734819-16734869	MCF-7	breast:	n/a
19	chr17:16737096-16737146	SK-N-SH_RA	brain:	n/a
20	chr17:16734819-16734869	BE2_C	brain:	n/a
21	chr17:16734819-16734869	SK-N-SH_RA	brain:	n/a
22	chr17:16757356-16757406	T-47D	breast:	n/a
23	chr17:16734819-16734869	AG10803	skin:	n/a
24	chr17:16737096-16737146	T-47D	breast:	n/a
25	chr17:16736463-16736513	NB4	blood:	n/a
26	chr17:16757305-16757355	HEK293	kidney:	embryo
27	chr17:16737096-16737146	MCF-7	breast:	n/a
28	chr17:16734819-16734869	HCPEpiC	choroid plexus:	n/a
29	chr17:16734819-16734869	Jurkat	blood:	n/a
30	chr17:16736463-16736513	SAEC	small airway:	n/a
31	chr17:16737096-16737146	SK-N-SH	brain:	n/a
32	chr17:16757356-16757406	HepG2	liver:	n/a
33	chr17:16734819-16734869	IMR90	lung:	fetal
34	chr17:16737096-16737146	BE2_C	brain:	n/a
35	chr17:16734819-16734869	HepG2	liver:	n/a
36	chr17:16736463-16736513	ECC-1	luminal epithelium:	n/a
37	chr17:16736463-16736513	HEEpiC	esophagus:	n/a
38	chr17:16757356-16757406	HMEC	breast:	n/a
39	chr17:16734819-16734869	A549	lung:	n/a
40	chr17:16757356-16757406	MCF10A-Er-Src	breast:	n/a
41	chr17:16757356-16757406	AoSMC	blood vessel:	n/a
42	chr17:16734819-16734869	GM12892	blood:	n/a
43	chr17:16757305-16757355	AG10803	skin:	n/a
44	chr17:16736463-16736513	MCF10A-Er-Src	breast:	n/a
45	chr17:16737096-16737146	AG10803	skin:	n/a
46	chr17:16757356-16757406	Hepatocyte	liver:	n/a
47	chr17:16734819-16734869	HRPEpiC	eye:	n/a
48	chr17:16736463-16736513	HMEC	breast:	n/a
49	chr17:16734819-16734869	AG04450	lung:	fetal
50	chr17:16757356-16757406	NB4	blood:	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:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KRT17P1-2	chr17:16750949-16751252	NONHSAT146019
2	lnc-CCDC144A-4	chr17:16735634-16735881	NONHSAT146016
3	lnc-CCDC144A-4	chr17:16734662-16734742	NONHSAT146016
4	lnc-KRT17P1-2	chr17:16751411-16751727	NONHSAT146019

No data

Variant related genes	Relation type
ENSG00000205312	TF binding region
ENSG00000226145	TF binding region
KRT16P2	TF binding region
COTL1P1	TF binding region
KRT17P1	TF binding region
ENSG00000205312	CpG island
ENSG00000226145	CpG island
KRT16P2	CpG island
COTL1P1	CpG island
KRT17P1	CpG island

Extended variants
information (count: 983 )
Associated
traits (count: 158 )

Variant overlapped rSNPs/rCNVs (count:983 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8072444	chr17:16722240-16722241	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555523491	chr17:16722244-16722245	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs147795795	chr17:16722255-16722256	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs184190235	chr17:16722260-16722261	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs2656363	chr17:16722266-16722267	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs578228550	chr17:16722267-16722268	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs6502520	chr17:16722281-16722282	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs377503279	chr17:16722293-16722294	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs529598362	chr17:16722294-16722295	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs548918361	chr17:16722297-16722298	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs188270963	chr17:16722302-16722303	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs531274004	chr17:16722310-16722311	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs551086353	chr17:16722311-16722312	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs543888722	chr17:16722330-16722331	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs140156032	chr17:16722363-16722364	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs547316931	chr17:16722374-16722375	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs567550629	chr17:16722400-16722401	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs191581025	chr17:16722437-16722438	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs77507394	chr17:16722479-16722480	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs555691989	chr17:16722551-16722552	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs28377198	chr17:16722552-16722553	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs4072033	chr17:16722612-16722613	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538313996	chr17:16722637-16722638	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3844435	chr17:16722646-16722647	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs578167015	chr17:16722662-16722663	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540818403	chr17:16722693-16722694	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551636460	chr17:16722709-16722710	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560525050	chr17:16722782-16722783	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574235428	chr17:16722804-16722805	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs375764278	chr17:16722805-16722806	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs185625076	chr17:16722834-16722835	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs190496391	chr17:16722846-16722847	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs531189931	chr17:16722853-16722854	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs150302546	chr17:16722888-16722889	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs564631029	chr17:16722901-16722902	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs527433582	chr17:16722916-16722917	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs76153054	chr17:16722945-16722946	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs540578689	chr17:16722953-16722954	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs547520308	chr17:16722983-16722984	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs3852824	chr17:16722984-16722985	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs142496580	chr17:16723075-16723076	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs144619140	chr17:16723076-16723077	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs141866363	chr17:16723078-16723079	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs368861496	chr17:16723089-16723090	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs536510142	chr17:16723161-16723162	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs549825830	chr17:16723171-16723172	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs569994666	chr17:16723175-16723176	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs538226232	chr17:16723195-16723196	Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs115230999	chr17:16723205-16723206	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs2688022	chr17:16723212-16723213	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:158)

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
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16716600-16723200	Weak transcription	Right Atrium	heart
2	chr17:16719000-16723200	Weak transcription	Spleen	Spleen
3	chr17:16719000-16724000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:16719200-16723600	Weak transcription	NHEK	skin
5	chr17:16720200-16722400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr17:16720600-16723000	Strong transcription	Placenta Amnion	Placenta Amnion
7	chr17:16720600-16723200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr17:16721400-16724600	Enhancers	Adipose Nuclei	Adipose
9	chr17:16721600-16723800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr17:16722000-16722600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:16722000-16723200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr17:16722000-16724800	Enhancers	Right Ventricle	heart
13	chr17:16722200-16723000	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr17:16722200-16724200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:16722400-16722600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:16722400-16722800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:16722400-16722800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr17:16722400-16723400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr17:16722600-16723200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr17:16722600-16724400	Enhancers	Rectal Smooth Muscle	rectum
21	chr17:16722600-16724600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr17:16722600-16724800	Enhancers	Left Ventricle	heart
23	chr17:16722800-16723400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
24	chr17:16722800-16723800	Enhancers	HMEC	breast
25	chr17:16722800-16724000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:16722800-16725200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:16722800-16725200	Enhancers	Esophagus	oesophagus
28	chr17:16723000-16723600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr17:16723000-16724800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:16723000-16724800	Enhancers	Fetal Heart	heart
31	chr17:16723000-16725200	Enhancers	Fetal Muscle Leg	muscle
32	chr17:16723200-16723400	Enhancers	Spleen	Spleen
33	chr17:16723200-16723800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr17:16723200-16724200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr17:16723200-16724200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr17:16723200-16724400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:16723200-16724400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr17:16723200-16724400	Enhancers	Brain Hippocampus Middle	brain
39	chr17:16723200-16724400	Enhancers	Right Atrium	heart
40	chr17:16723200-16724600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:16723200-16724600	Enhancers	Colon Smooth Muscle	Colon
42	chr17:16723200-16724600	Enhancers	Psoas Muscle	Psoas
43	chr17:16723200-16725200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr17:16723400-16723600	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr17:16723400-16723800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr17:16723400-16724200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr17:16723400-16724200	Enhancers	Colonic Mucosa	Colon
48	chr17:16723400-16724200	Enhancers	Duodenum Mucosa	Duodenum
49	chr17:16723400-16724200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr17:16723400-16724400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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