Variant report

Variant	nsv1055688
Chromosome Location	chr17:16800788-16868860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1272)
CpG islands
(count:612)
Chromatin interactive
region (count:27)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1272 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr17:16867817-16868363	GM12878	blood:	n/a	n/a
2	ATF2	chr17:16867849-16868459	GM12878	blood:	n/a	n/a
3	ATF2	chr17:16850682-16851407	GM12878	blood:	n/a	n/a
4	ATF2	chr17:16865082-16865501	GM12878	blood:	n/a	n/a
5	BATF	chr17:16867856-16868345	GM12878	blood:	n/a	n/a
6	BATF	chr17:16867915-16868343	GM12878	blood:	n/a	n/a
7	BATF	chr17:16850864-16851159	GM12878	blood:	n/a	n/a
8	BCL11A	chr17:16867959-16868261	GM12878	blood:	n/a	n/a
9	BCL11A	chr17:16850835-16851152	GM12878	blood:	n/a	n/a
10	BCL11A	chr17:16867874-16868391	GM12878	blood:	n/a	n/a
11	BCL3	chr17:16809248-16809511	GM12878	blood:	n/a	n/a
12	BCL3	chr17:16838669-16839490	GM12878	blood:	n/a	n/a
13	BCL3	chr17:16867988-16868309	GM12878	blood:	n/a	n/a
14	BCL3	chr17:16812400-16812714	GM12878	blood:	n/a	n/a
15	BCL3	chr17:16812475-16812689	GM12878	blood:	n/a	n/a
16	BCL3	chr17:16867821-16868425	GM12878	blood:	n/a	n/a
17	BCLAF1	chr17:16850691-16851193	GM12878	blood:	n/a	n/a
18	BCLAF1	chr17:16867780-16868339	GM12878	blood:	n/a	n/a
19	BCLAF1	chr17:16867853-16868349	GM12878	blood:	n/a	n/a
20	BCLAF1	chr17:16825664-16826009	GM12878	blood:	n/a	n/a
21	BHLHE40	chr17:16867916-16868348	GM12878	blood:	n/a	n/a
22	BHLHE40	chr17:16842299-16842597	GM12878	blood:	n/a	n/a
23	BHLHE40	chr17:16850816-16850980	GM12878	blood:	n/a	n/a
24	BRCA1	chr17:16851826-16851852	GM12878	blood:	n/a	n/a
25	BRCA1	chr17:16855791-16855896	GM12878	blood:	n/a	n/a
26	BRCA1	chr17:16812266-16812267	GM12878	blood:	n/a	n/a
27	CBX3	chr17:16866019-16866242	K562	blood:	n/a	n/a
28	CBX3	chr17:16866001-16866279	K562	blood:	n/a	n/a
29	CEBPB	chr17:16848799-16848902	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr17:16808916-16808945	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr17:16848800-16848947	HepG2	liver:	n/a	n/a
32	CEBPB	chr17:16808111-16808206	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr17:16867787-16868396	GM12878	blood:	n/a	n/a
34	CEBPB	chr17:16848847-16848897	K562	blood:	n/a	n/a
35	CHD1	chr17:16867922-16869300	GM12878	blood:	n/a	n/a
36	CHD2	chr17:16848997-16849267	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr17:16868054-16868321	GM12878	blood:	n/a	n/a
38	CREB1	chr17:16857834-16858250	GM12878	blood:	n/a	n/a
39	CREB1	chr17:16866139-16866380	A549	lung:	n/a	n/a
40	CTCF	chr17:16832697-16832759	NHEK	skin:	n/a	n/a
41	CTCF	chr17:16819380-16819530	GM12874	blood:	n/a	chr17:16819475-16819491 chr17:16819477-16819486 chr17:16819479-16819489 chr17:16819474-16819492 chr17:16819476-16819497
42	CTCF	chr17:16813521-16813560	GM19239	blood:	n/a	n/a
43	CTCF	chr17:16866143-16866355	IMR90	lung:	n/a	chr17:16866277-16866286 chr17:16866274-16866292
44	CTCF	chr17:16849104-16849211	MCF-7	breast:	n/a	n/a
45	CTCF	chr17:16819191-16819259	GM12891	blood:	n/a	n/a
46	CTCF	chr17:16825779-16825905	ProgFib	skin:	n/a	n/a
47	CTCF	chr17:16825780-16825930	RPTEC	kidney:	n/a	n/a
48	CTCF	chr17:16819142-16820197	SK-N-SH	brain:	n/a	chr17:16819475-16819491 chr17:16819477-16819486 chr17:16819479-16819489 chr17:16819474-16819492 chr17:16819476-16819497 chr17:16819665-16819674
49	CTCF	chr17:16819380-16819530	GM12868	blood:	n/a	chr17:16819475-16819491 chr17:16819477-16819486 chr17:16819479-16819489 chr17:16819474-16819492 chr17:16819476-16819497
50	CTCF	chr17:16819380-16819530	Caco-2	colon:	n/a	chr17:16819475-16819491 chr17:16819477-16819486 chr17:16819479-16819489 chr17:16819474-16819492 chr17:16819476-16819497

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16838321-16838371	HCM	heart:	n/a
2	chr17:16840933-16840983	HL-60	blood:	n/a
3	chr17:16838321-16838371	HCM	heart:	n/a
4	chr17:16840933-16840983	HL-60	blood:	n/a
5	chr17:16838427-16838477	GM06990	blood:	n/a
6	chr17:16840933-16840983	LNCaP	prostate:	n/a
7	chr17:16836322-16836372	AG09319	gingival:	n/a
8	chr17:16838236-16838286	GM06990	blood:	n/a
9	chr17:16843026-16843076	NH-A	brain:	n/a
10	chr17:16842469-16842519	SKMC	muscle:	n/a
11	chr17:16840933-16840983	NH-A	brain:	n/a
12	chr17:16838321-16838371	HEK293	kidney:	embryo
13	chr17:16838176-16838226	HL-60	blood:	n/a
14	chr17:16842469-16842519	HepG2	liver:	n/a
15	chr17:16836322-16836372	HEK293	kidney:	embryo
16	chr17:16838321-16838371	NT2-D1	testis:	n/a
17	chr17:16838427-16838477	HL-60	blood:	n/a
18	chr17:16843026-16843076	AG04450	lung:	fetal
19	chr17:16838427-16838477	AG10803	skin:	n/a
20	chr17:16838510-16838560	HEEpiC	esophagus:	n/a
21	chr17:16836322-16836372	GM06990	blood:	n/a
22	chr17:16840933-16840983	PFSK-1	brain:	n/a
23	chr17:16842469-16842519	HRCEpiC	kidney:	n/a
24	chr17:16838176-16838226	HCT-116	colon:	n/a
25	chr17:16838427-16838477	GM12891	blood:	n/a
26	chr17:16836322-16836372	NHBE	bronchial:	n/a
27	chr17:16838510-16838560	AG09319	gingival:	n/a
28	chr17:16840933-16840983	HAEpiC	amniotic membrane:	n/a
29	chr17:16838321-16838371	HL-60	blood:	n/a
30	chr17:16842469-16842519	MCF-7	breast:	n/a
31	chr17:16836322-16836372	SK-N-SH_RA	brain:	n/a
32	chr17:16840933-16840983	U87	brain:	n/a
33	chr17:16843026-16843076	NHBE	bronchial:	n/a
34	chr17:16843026-16843076	HEEpiC	esophagus:	n/a
35	chr17:16840933-16840983	AG04449	skin:	fetal
36	chr17:16836322-16836372	MCF-7	breast:	n/a
37	chr17:16838427-16838477	HepG2	liver:	n/a
38	chr17:16838236-16838286	NHBE	bronchial:	n/a
39	chr17:16842469-16842519	AoSMC	blood vessel:	n/a
40	chr17:16843026-16843076	HAEpiC	amniotic membrane:	n/a
41	chr17:16838321-16838371	HMEC	breast:	n/a
42	chr17:16838510-16838560	BJ	skin:	n/a
43	chr17:16838510-16838560	HRPEpiC	eye:	n/a
44	chr17:16838236-16838286	ProgFib	skin:	n/a
45	chr17:16849388-16849438	NB4	blood:	n/a
46	chr17:16838321-16838371	HRE	kidney:	n/a
47	chr17:16849388-16849438	NHDF-neo	bronchial:	n/a
48	chr17:16849388-16849438	HepG2	liver:	n/a
49	chr17:16840933-16840983	K562	blood:	n/a
50	chr17:16838176-16838226	HCM	heart:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16858836..16860818-chr17:16864021..16866400,2	K562	blood:
2	chr17:16826192..16826763-chr17:16845300..16846108,3	MCF-7	breast:
3	chr17:16844634..16847567-chr17:17108440..17110491,2	MCF-7	breast:
4	chr17:16819016..16819930-chr17:16894369..16895346,5	MCF-7	breast:
5	chr17:16844584..16846721-chr17:16858506..16861138,2	MCF-7	breast:
6	chr17:16854667..16857479-chr17:16858577..16860640,2	MCF-7	breast:
7	chr17:16825450..16826310-chr17:16894599..16895108,2	MCF-7	breast:
8	chr17:16825667..16826312-chr17:16900864..16901397,2	MCF-7	breast:
9	chr17:16864871..16867780-chr17:16878608..16880115,2	MCF-7	breast:
10	chr17:16839251..16842055-chr17:16843809..16846753,2	K562	blood:
11	chr17:16817372..16819591-chr17:16821854..16823935,2	MCF-7	breast:
12	chr17:16810205..16812865-chr17:16818453..16820548,2	MCF-7	breast:
13	chr17:16828602..16830986-chr17:16831048..16832732,2	MCF-7	breast:
14	chr17:16838629..16840904-chr17:16844265..16846336,2	MCF-7	breast:
15	chr17:16817372..16819591-chr17:16821854..16823935,2	MCF-7	breast:
16	chr17:16825314..16827941-chr17:16845624..16848889,3	MCF-7	breast:
17	chr17:16439156..16440810-chr17:16832708..16834680,2	MCF-7	breast:
18	chr17:16826192..16826763-chr17:16845300..16846108,3	MCF-7	breast:
19	chr17:16810205..16812865-chr17:16818453..16820548,2	MCF-7	breast:
20	chr17:16825314..16827941-chr17:16845624..16848889,3	MCF-7	breast:
21	chr17:16858836..16860818-chr17:16864021..16866400,2	K562	blood:
22	chr17:16825418..16826776-chr17:16894392..16895364,7	MCF-7	breast:
23	chr17:16843669..16845783-chr17:16851829..16853825,2	K562	blood:
24	chr17:16865818..16866414-chr17:16894372..16895239,2	MCF-7	breast:
25	chr17:16828602..16830986-chr17:16831048..16832732,2	MCF-7	breast:
26	chr17:16854667..16857479-chr17:16858577..16860640,2	MCF-7	breast:
27	chr17:16844584..16846721-chr17:16858506..16861138,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNFRSF13B-5	chr17:16835744-16835819	NONHSAT146028
2	lnc-TNFRSF13B-5	chr17:16832835-16833722	NONHSAT146027
3	lnc-TNFRSF13B-5	chr17:16832530-16832633	NONHSAT146027
4	lnc-TNFRSF13B-5	chr17:16835744-16835819	NONHSAT146027
5	lnc-TNFRSF13B-6	chr17:16824240-16824755	NONHSAT146024
6	lnc-TNFRSF13B-5	chr17:16835485-16835567	NONHSAT146027
7	lnc-TNFRSF13B-5	chr17:16836101-16836106	NONHSAT146028
8	lnc-TNFRSF13B-5	chr17:16832835-16833722	NONHSAT146028
9	lnc-TNFRSF13B-6	chr17:16820038-16821669	NONHSAT146024
10	lnc-TNFRSF13B-6	chr17:16825340-16825392	NONHSAT146024
11	lnc-TNFRSF13B-5	chr17:16832595-16832633	NONHSAT146028
12	lnc-TNFRSF13B-5	chr17:16835485-16835567	NONHSAT146028

No data

Variant related genes	Relation type
TNFRSF13B	TF binding region
TBC1D27	TF binding region
ENSG00000265853	TF binding region
TNFRSF13B	CpG island
TBC1D27	CpG island
ENSG00000265853	CpG island
ENSG00000179598	chromatin interactions
ENSG00000240505	chromatin interactions

Extended variants
information (count: 3093 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:3093 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6502534	chr17:16800788-16800789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561771141	chr17:16800800-16800801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529435425	chr17:16800856-16800857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7214075	chr17:16800880-16800881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs563132196	chr17:16800914-16800915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377154681	chr17:16800934-16800935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571908761	chr17:16800935-16800936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11652373	chr17:16800951-16800952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571194770	chr17:16800959-16800960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527362879	chr17:16800960-16800961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547205327	chr17:16800970-16800971	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs567377249	chr17:16801105-16801106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192594801	chr17:16801134-16801135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138953516	chr17:16801238-16801239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569571547	chr17:16801247-16801248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538597475	chr17:16801285-16801286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376639834	chr17:16801331-16801332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28533778	chr17:16801364-16801365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577986994	chr17:16801371-16801372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183544311	chr17:16801461-16801462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553939629	chr17:16801483-16801484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4239136	chr17:16801493-16801494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4444380	chr17:16801529-16801530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563122155	chr17:16801581-16801582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188424224	chr17:16801601-16801602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545748625	chr17:16801603-16801604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564876850	chr17:16801688-16801689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201008123	chr17:16801700-16801701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527266417	chr17:16801712-16801713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547385667	chr17:16801713-16801714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567209500	chr17:16801724-16801725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192824329	chr17:16801734-16801735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150781053	chr17:16801737-16801738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569557528	chr17:16801764-16801765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538532409	chr17:16801822-16801823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543353727	chr17:16801836-16801837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558543157	chr17:16801851-16801852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71362286	chr17:16801856-16801857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533898346	chr17:16801858-16801859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554137413	chr17:16801889-16801890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574178348	chr17:16801899-16801900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149601058	chr17:16801914-16801915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556779225	chr17:16801926-16801927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7503211	chr17:16801927-16801928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545606090	chr17:16801928-16801929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534678435	chr17:16802012-16802013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57127878	chr17:16802013-16802014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397943383	chr17:16802020-16802021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181110987	chr17:16802023-16802024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184970239	chr17:16802033-16802034	Weak transcription	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16800000-16805400	Weak transcription	Gastric	stomach
2	chr17:16803600-16803800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr17:16803600-16804400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:16803600-16804600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:16803600-16805200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr17:16803600-16805400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr17:16803800-16804000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:16803800-16804200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr17:16804000-16805400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr17:16804200-16804600	Bivalent Enhancer	Primary T cells from cord blood	blood
11	chr17:16804200-16804800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr17:16804400-16804800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr17:16804400-16804800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr17:16804400-16804800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr17:16804400-16805000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:16804400-16805200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr17:16804400-16805400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr17:16804400-16814200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:16804600-16804800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr17:16804600-16808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:16804800-16808000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr17:16805400-16807200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr17:16807000-16807400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:16807200-16807600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr17:16807200-16808000	Enhancers	NH-A	brain
26	chr17:16807400-16807600	Enhancers	HSMMtube	muscle
27	chr17:16807400-16809200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr17:16807400-16813200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:16807600-16808600	Weak transcription	HSMMtube	muscle
30	chr17:16807600-16810600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr17:16807600-16811000	Enhancers	Osteobl	bone
32	chr17:16807600-16812600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr17:16807800-16809000	Bivalent Enhancer	NHDF-Ad	bronchial
34	chr17:16807800-16810400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr17:16808000-16808200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr17:16808000-16808200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr17:16808000-16808200	Enhancers	Primary T cells from cord blood	blood
38	chr17:16808000-16808200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:16808000-16808600	Weak transcription	NH-A	brain
40	chr17:16808000-16809200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr17:16808200-16809000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:16808200-16809800	Enhancers	NHEK	skin
43	chr17:16808200-16810000	Weak transcription	Primary T cells from cord blood	blood
44	chr17:16808200-16812400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr17:16808600-16808800	Enhancers	NH-A	brain
46	chr17:16808600-16809200	Enhancers	HSMMtube	muscle
47	chr17:16808800-16809000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr17:16808800-16809200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr17:16808800-16810400	Weak transcription	NH-A	brain
50	chr17:16809000-16810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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