Variant report

Variant	nsv1062124
Chromosome Location	chr17:20139384-20206601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:364)
CpG islands
(count:429)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:20193406-20193703	HepG2	liver:	n/a	n/a
2	ATF1	chr17:20166977-20167251	K562	blood:	n/a	n/a
3	BACH1	chr17:20184460-20184504	K562	blood:	n/a	n/a
4	BACH1	chr17:20164107-20164272	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr17:20140915-20141180	GM12878	blood:	n/a	n/a
6	BCL3	chr17:20140911-20141229	GM12878	blood:	n/a	n/a
7	BCL3	chr17:20139141-20139466	GM12878	blood:	n/a	chr17:20139361-20139370
8	BHLHE40	chr17:20170769-20171135	GM12878	blood:	n/a	n/a
9	BHLHE40	chr17:20170764-20171148	K562	blood:	n/a	n/a
10	BHLHE40	chr17:20166944-20167199	K562	blood:	n/a	n/a
11	CEBPB	chr17:20200540-20200895	HepG2	liver:	n/a	chr17:20200701-20200712
12	CEBPB	chr17:20173392-20173495	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr17:20180974-20180981	K562	blood:	n/a	n/a
14	CEBPB	chr17:20179087-20179295	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr17:20166988-20167230	K562	blood:	n/a	n/a
16	CEBPB	chr17:20173977-20174019	K562	blood:	n/a	chr17:20174004-20174015
17	CEBPB	chr17:20200621-20200824	K562	blood:	n/a	chr17:20200701-20200712
18	CEBPB	chr17:20200598-20200793	Hela-S3	cervix:	n/a	chr17:20200701-20200712
19	CEBPB	chr17:20175621-20175879	HepG2	liver:	n/a	n/a
20	CEBPB	chr17:20166880-20167361	HCT-116	colon:	n/a	n/a
21	CEBPB	chr17:20148015-20148305	Hela-S3	cervix:	n/a	chr17:20148104-20148117
22	CEBPB	chr17:20180942-20181056	HepG2	liver:	n/a	chr17:20180959-20180970
23	CEBPB	chr17:20173911-20174148	IMR90	lung:	n/a	chr17:20174004-20174015
24	CEBPB	chr17:20177462-20177626	A549	lung:	n/a	n/a
25	CEBPB	chr17:20200553-20200887	IMR90	lung:	n/a	chr17:20200701-20200712
26	CEBPB	chr17:20175668-20175868	A549	lung:	n/a	n/a
27	CEBPB	chr17:20173462-20173607	K562	blood:	n/a	chr17:20173508-20173519
28	CEBPB	chr17:20173952-20174119	HepG2	liver:	n/a	chr17:20174004-20174015
29	CEBPB	chr17:20175720-20175906	K562	blood:	n/a	n/a
30	CEBPB	chr17:20147990-20148343	IMR90	lung:	n/a	chr17:20148104-20148117
31	CEBPB	chr17:20166936-20167312	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr17:20200541-20200898	A549	lung:	n/a	chr17:20200701-20200712
33	CEBPB	chr17:20162102-20162475	IMR90	lung:	n/a	chr17:20162293-20162302 chr17:20162292-20162303
34	CEBPB	chr17:20173457-20173574	Hela-S3	cervix:	n/a	chr17:20173508-20173519
35	CEBPB	chr17:20173356-20173646	IMR90	lung:	n/a	chr17:20173508-20173519
36	CEBPB	chr17:20162150-20162416	HepG2	liver:	n/a	chr17:20162293-20162302 chr17:20162292-20162303
37	CEBPB	chr17:20173337-20173644	HepG2	liver:	n/a	chr17:20173508-20173519
38	CEBPB	chr17:20173379-20173647	A549	lung:	n/a	chr17:20173508-20173519
39	CEBPB	chr17:20162132-20162442	A549	lung:	n/a	chr17:20162293-20162302 chr17:20162292-20162303
40	CEBPB	chr17:20180821-20181131	A549	lung:	n/a	chr17:20180959-20180970
41	CEBPB	chr17:20166978-20167302	IMR90	lung:	n/a	n/a
42	CTCF	chr17:20164200-20164350	MCF-7	breast:	n/a	n/a
43	CTCF	chr17:20164140-20164290	RPTEC	kidney:	n/a	n/a
44	CTCF	chr17:20164100-20164250	HRE	kidney:	n/a	n/a
45	CTCF	chr17:20182420-20182570	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr17:20151460-20151610	A549	lung:	n/a	n/a
47	CTCF	chr17:20204060-20204210	AG04450	lung:	n/a	n/a
48	CTCF	chr17:20164156-20164234	GM12891	blood:	n/a	n/a
49	CTCF	chr17:20182360-20182510	GM12873	blood:	n/a	n/a
50	CTCF	chr17:20204040-20204190	AoAF	blood vessel:	n/a	n/a

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20180146-20180196	GM06990	blood:	n/a
2	chr17:20156940-20156990	NHBE	bronchial:	n/a
3	chr17:20180146-20180196	GM06990	blood:	n/a
4	chr17:20156940-20156990	NHBE	bronchial:	n/a
5	chr17:20187457-20187507	SAEC	small airway:	n/a
6	chr17:20171047-20171097	HNPCEpiC	eye:	n/a
7	chr17:20203992-20204042	HL-60	blood:	n/a
8	chr17:20140352-20140402	Jurkat	blood:	n/a
9	chr17:20180146-20180196	AG09319	gingival:	n/a
10	chr17:20156940-20156990	GM12892	blood:	n/a
11	chr17:20165967-20166017	SK-N-SH	brain:	n/a
12	chr17:20180146-20180196	AG10803	skin:	n/a
13	chr17:20165967-20166017	GM06990	blood:	n/a
14	chr17:20187457-20187507	HMEC	breast:	n/a
15	chr17:20187457-20187507	T-47D	breast:	n/a
16	chr17:20171047-20171097	ECC-1	luminal epithelium:	n/a
17	chr17:20180146-20180196	ProgFib	skin:	n/a
18	chr17:20180146-20180196	HRCEpiC	kidney:	n/a
19	chr17:20171047-20171097	HEK293	kidney:	embryo
20	chr17:20187457-20187507	AG04450	lung:	fetal
21	chr17:20187457-20187507	A549	lung:	n/a
22	chr17:20187457-20187507	CMK	blood:	n/a
23	chr17:20180146-20180196	U87	brain:	n/a
24	chr17:20203992-20204042	LNCaP	prostate:	n/a
25	chr17:20180146-20180196	GM12892	blood:	n/a
26	chr17:20187457-20187507	HAEpiC	amniotic membrane:	n/a
27	chr17:20165967-20166017	A549	lung:	n/a
28	chr17:20140352-20140402	Caco-2	colon:	n/a
29	chr17:20187457-20187507	GM12878	blood:	n/a
30	chr17:20165967-20166017	HIPEpiC	eye:	n/a
31	chr17:20171047-20171097	AG09309	skin:	n/a
32	chr17:20203992-20204042	HCPEpiC	choroid plexus:	n/a
33	chr17:20165967-20166017	PFSK-1	brain:	n/a
34	chr17:20156940-20156990	SAEC	small airway:	n/a
35	chr17:20180146-20180196	AG04450	lung:	fetal
36	chr17:20180146-20180196	HCT-116	colon:	n/a
37	chr17:20156940-20156990	CMK	blood:	n/a
38	chr17:20180146-20180196	NHBE	bronchial:	n/a
39	chr17:20171047-20171097	HUVEC	blood vessel:	n/a
40	chr17:20165967-20166017	HCM	heart:	n/a
41	chr17:20203992-20204042	PrEC	prostate:	n/a
42	chr17:20165967-20166017	SK-N-MC	brain:	n/a
43	chr17:20171047-20171097	HCF	heart:	n/a
44	chr17:20140352-20140402	T-47D	breast:	n/a
45	chr17:20165967-20166017	HCPEpiC	choroid plexus:	n/a
46	chr17:20171047-20171097	NHBE	bronchial:	n/a
47	chr17:20187457-20187507	HL-60	blood:	n/a
48	chr17:20180146-20180196	ovcar-3	ovarian:	n/a
49	chr17:20156940-20156990	AG04450	lung:	fetal
50	chr17:20156940-20156990	ProgFib	skin:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:20144165..20146631-chr17:20158234..20160364,2	MCF-7	breast:
2	chr17:20183025..20185353-chr17:20193031..20195779,2	MCF-7	breast:
3	chr17:20144551..20147091-chr17:20150035..20152753,2	MCF-7	breast:
4	chr17:20170501..20172130-chr17:20175746..20177689,2	MCF-7	breast:
5	chr17:20170501..20172130-chr17:20175746..20177689,2	MCF-7	breast:
6	chr17:20159792..20163252-chr17:20165134..20168652,3	MCF-7	breast:
7	chr17:20187206..20188805-chr17:20191022..20192770,2	K562	blood:
8	chr17:20187206..20188805-chr17:20191022..20192770,2	K562	blood:
9	chr17:20159792..20163252-chr17:20165134..20168652,3	MCF-7	breast:
10	chr17:20144165..20146631-chr17:20158234..20160364,2	MCF-7	breast:
11	chr17:20193195..20195348-chr17:20196222..20198766,2	MCF-7	breast:
12	chr17:20144551..20147091-chr17:20150035..20152753,2	MCF-7	breast:
13	chr17:20170600..20173338-chr17:20176185..20177778,2	K562	blood:
14	chr17:20170600..20173338-chr17:20176185..20177778,2	K562	blood:
15	chr17:20164807..20165435-chr17:20223847..20224473,2	MCF-7	breast:

No data

Variant related genes	Relation type
SPECC1	TF binding region
RNU6-1057P	TF binding region
SPECC1	CpG island
RNU6-1057P	CpG island
ENSG00000252971	chromatin interactions

Extended variants
information (count: 2596 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:2596 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567083068	chr17:20139386-20139387	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536025327	chr17:20139421-20139422	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555602942	chr17:20139504-20139505	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575673240	chr17:20139530-20139531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200151218	chr17:20139598-20139599	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140728943	chr17:20139638-20139639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558122762	chr17:20139658-20139659	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116147607	chr17:20139692-20139693	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12949627	chr17:20139702-20139703	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12943032	chr17:20139703-20139704	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147190514	chr17:20139707-20139708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367750607	chr17:20139710-20139711	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540139709	chr17:20139731-20139732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374622631	chr17:20139753-20139754	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538529264	chr17:20139755-20139756	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368726601	chr17:20139831-20139832	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573513351	chr17:20139875-20139876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190892042	chr17:20139900-20139901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs386796049	chr17:20139917-20139918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562470168	chr17:20139932-20139933	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201801335	chr17:20139937-20139938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs397761406	chr17:20139938-20139939	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111279897	chr17:20139939-20139940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113568063	chr17:20139940-20139941	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34779112	chr17:20139968-20139969	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61301703	chr17:20139969-20139970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs397770045	chr17:20139987-20139988	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183052006	chr17:20140006-20140007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151274769	chr17:20140049-20140050	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545803532	chr17:20140054-20140055	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564879226	chr17:20140064-20140065	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577349490	chr17:20140074-20140075	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188654000	chr17:20140092-20140093	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371575133	chr17:20140122-20140123	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374437975	chr17:20140128-20140129	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202142427	chr17:20140153-20140154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377347091	chr17:20140157-20140158	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374122057	chr17:20140172-20140173	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371421762	chr17:20140218-20140219	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541532626	chr17:20140245-20140246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547335614	chr17:20140247-20140248	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139284091	chr17:20140270-20140271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150007419	chr17:20140291-20140292	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3214214	chr17:20140311-20140312	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs397759928	chr17:20140312-20140313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397710392	chr17:20140313-20140314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192786248	chr17:20140356-20140357	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146740583	chr17:20140357-20140358	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538332059	chr17:20140463-20140464	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557781987	chr17:20140464-20140465	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:151)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:1945 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20111600-20166000	Weak transcription	Right Ventricle	heart
2	chr17:20125200-20144000	Weak transcription	Small Intestine	intestine
3	chr17:20128800-20157000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:20129200-20161600	Weak transcription	Fetal Brain Female	brain
5	chr17:20129600-20161600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:20130600-20139800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:20130600-20141600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:20130600-20161200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr17:20130600-20170000	Weak transcription	K562	blood
10	chr17:20130600-20170200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr17:20130800-20139800	Weak transcription	Colon Smooth Muscle	Colon
12	chr17:20130800-20140400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr17:20130800-20141800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:20130800-20142200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:20130800-20142200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr17:20131000-20142000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:20131200-20142000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr17:20131400-20142000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr17:20131600-20139600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr17:20131600-20140400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:20131600-20140400	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr17:20131800-20140200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:20131800-20141400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr17:20131800-20147800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr17:20131800-20164400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr17:20132000-20140600	Strong transcription	Hela-S3	cervix
27	chr17:20132600-20151200	Weak transcription	NH-A	brain
28	chr17:20132800-20139600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr17:20134200-20147800	Weak transcription	HSMM	muscle
30	chr17:20134400-20139400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr17:20134400-20139400	Strong transcription	HMEC	breast
32	chr17:20134400-20141200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:20134400-20142200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:20134400-20142200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr17:20134400-20150200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr17:20134800-20139800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr17:20134800-20140600	Strong transcription	Osteobl	bone
38	chr17:20134800-20150000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr17:20135000-20141800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr17:20135000-20142200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr17:20135400-20139400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr17:20135400-20139400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr17:20135600-20140400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr17:20135800-20139400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr17:20135800-20140400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr17:20136000-20149400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr17:20136000-20151400	Weak transcription	Brain Germinal Matrix	brain
48	chr17:20136000-20151400	Weak transcription	Esophagus	oesophagus
49	chr17:20136200-20148600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:20136200-20149400	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links