Variant report

Variant	nsv1057389
Chromosome Location	chr17:20158343-20256498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:709)
CpG islands
(count:854)
Chromatin interactive
region (count:13)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:709 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

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	chr17:20224178-20224437	K562	blood:	n/a	n/a
3	ATF1	chr17:20166977-20167251	K562	blood:	n/a	n/a
4	ATF3	chr17:20224059-20224450	H1-hESC	embryonic stem cell:	n/a	chr17:20224408-20224418 chr17:20224410-20224430 chr17:20224408-20224421 chr17:20224409-20224420 chr17:20224410-20224421 chr17:20224409-20224420 chr17:20224408-20224418 chr17:20224409-20224422 chr17:20224408-20224421 chr17:20224411-20224421 chr17:20224410-20224418 chr17:20224411-20224418 chr17:20224411-20224421 chr17:20224411-20224419 chr17:20224407-20224422
5	BACH1	chr17:20184460-20184504	K562	blood:	n/a	n/a
6	BACH1	chr17:20164107-20164272	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr17:20243234-20243495	GM12878	blood:	n/a	n/a
8	BATF	chr17:20224099-20224508	GM12878	blood:	n/a	n/a
9	BATF	chr17:20248455-20248916	GM12878	blood:	n/a	n/a
10	BATF	chr17:20255920-20256169	GM12878	blood:	n/a	n/a
11	BCL11A	chr17:20224157-20224416	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:20224116-20224588	GM12878	blood:	n/a	n/a
13	BCL11A	chr17:20243128-20243463	GM12878	blood:	n/a	n/a
14	BHLHE40	chr17:20166944-20167199	K562	blood:	n/a	n/a
15	BHLHE40	chr17:20170769-20171135	GM12878	blood:	n/a	n/a
16	BHLHE40	chr17:20170764-20171148	K562	blood:	n/a	n/a
17	BRCA1	chr17:20224169-20224376	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr17:20224258-20224346	HepG2	liver:	n/a	n/a
19	CBX3	chr17:20210305-20210555	K562	blood:	n/a	n/a
20	CBX3	chr17:20224068-20224528	K562	blood:	n/a	n/a
21	CBX3	chr17:20224147-20224397	K562	blood:	n/a	n/a
22	CEBPB	chr17:20175668-20175868	A549	lung:	n/a	n/a
23	CEBPB	chr17:20173337-20173644	HepG2	liver:	n/a	chr17:20173508-20173519
24	CEBPB	chr17:20173379-20173647	A549	lung:	n/a	chr17:20173508-20173519
25	CEBPB	chr17:20173911-20174148	IMR90	lung:	n/a	chr17:20174004-20174015
26	CEBPB	chr17:20211638-20211964	A549	lung:	n/a	chr17:20211782-20211793
27	CEBPB	chr17:20200553-20200887	IMR90	lung:	n/a	chr17:20200701-20200712
28	CEBPB	chr17:20200541-20200898	A549	lung:	n/a	chr17:20200701-20200712
29	CEBPB	chr17:20200621-20200824	K562	blood:	n/a	chr17:20200701-20200712
30	CEBPB	chr17:20173977-20174019	K562	blood:	n/a	chr17:20174004-20174015
31	CEBPB	chr17:20219243-20219598	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr17:20173462-20173607	K562	blood:	n/a	chr17:20173508-20173519
33	CEBPB	chr17:20180942-20181056	HepG2	liver:	n/a	chr17:20180959-20180970
34	CEBPB	chr17:20224268-20224483	A549	lung:	n/a	n/a
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	chr17:20243697-20243977	K562	blood:	n/a	chr17:20243922-20243935
38	CEBPB	chr17:20211603-20211937	HepG2	liver:	n/a	chr17:20211782-20211793
39	CEBPB	chr17:20243727-20243984	K562	blood:	n/a	chr17:20243922-20243935
40	CEBPB	chr17:20166978-20167302	IMR90	lung:	n/a	n/a
41	CEBPB	chr17:20162132-20162442	A549	lung:	n/a	chr17:20162293-20162302 chr17:20162292-20162303
42	CEBPB	chr17:20173457-20173574	Hela-S3	cervix:	n/a	chr17:20173508-20173519
43	CEBPB	chr17:20166988-20167230	K562	blood:	n/a	n/a
44	CEBPB	chr17:20208913-20209118	IMR90	lung:	n/a	n/a
45	CEBPB	chr17:20243142-20243450	K562	blood:	n/a	n/a
46	CEBPB	chr17:20243203-20243389	K562	blood:	n/a	n/a
47	CEBPB	chr17:20200540-20200895	HepG2	liver:	n/a	chr17:20200701-20200712
48	CEBPB	chr17:20166880-20167361	HCT-116	colon:	n/a	n/a
49	CEBPB	chr17:20224250-20224356	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr17:20166936-20167312	Hela-S3	cervix:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20225674-20225724	HRE	kidney:	n/a
2	chr17:20228619-20228669	PrEC	prostate:	n/a
3	chr17:20217823-20217873	PANC-1	pancreas:	n/a
4	chr17:20228619-20228669	HepG2	liver:	n/a
5	chr17:20203992-20204042	NT2-D1	testis:	n/a
6	chr17:20223299-20223349	HCF	heart:	n/a
7	chr17:20217823-20217873	Caco-2	colon:	n/a
8	chr17:20220360-20220410	SKMC	muscle:	n/a
9	chr17:20225674-20225724	HEEpiC	esophagus:	n/a
10	chr17:20224230-20224280	K562	blood:	n/a
11	chr17:20165967-20166017	PrEC	prostate:	n/a
12	chr17:20217823-20217873	Hela-S3	cervix:	n/a
13	chr17:20203992-20204042	PANC-1	pancreas:	n/a
14	chr17:20223299-20223349	HIPEpiC	eye:	n/a
15	chr17:20203992-20204042	K562	blood:	n/a
16	chr17:20171047-20171097	AG09309	skin:	n/a
17	chr17:20228619-20228669	HRPEpiC	eye:	n/a
18	chr17:20165967-20166017	HRE	kidney:	n/a
19	chr17:20228619-20228669	HCPEpiC	choroid plexus:	n/a
20	chr17:20180146-20180196	Hela-S3	cervix:	n/a
21	chr17:20224800-20224850	HRPEpiC	eye:	n/a
22	chr17:20187457-20187507	HRPEpiC	eye:	n/a
23	chr17:20228619-20228669	ProgFib	skin:	n/a
24	chr17:20187457-20187507	GM12891	blood:	n/a
25	chr17:20224800-20224850	SK-N-SH_RA	brain:	n/a
26	chr17:20203992-20204042	HNPCEpiC	eye:	n/a
27	chr17:20224800-20224850	GM06990	blood:	n/a
28	chr17:20171047-20171097	HRCEpiC	kidney:	n/a
29	chr17:20224230-20224280	HepG2	liver:	n/a
30	chr17:20224345-20224395	SK-N-SH	brain:	n/a
31	chr17:20224800-20224850	BE2_C	brain:	n/a
32	chr17:20171047-20171097	ECC-1	luminal epithelium:	n/a
33	chr17:20224414-20224464	GM06990	blood:	n/a
34	chr17:20217823-20217873	AoSMC	blood vessel:	n/a
35	chr17:20223299-20223349	NB4	blood:	n/a
36	chr17:20224230-20224280	BE2_C	brain:	n/a
37	chr17:20220360-20220410	Hepatocyte	liver:	n/a
38	chr17:20217823-20217873	HepG2	liver:	n/a
39	chr17:20203992-20204042	HCPEpiC	choroid plexus:	n/a
40	chr17:20224800-20224850	HNPCEpiC	eye:	n/a
41	chr17:20180146-20180196	H1-hESC	embryonic stem cell:	embryo
42	chr17:20171047-20171097	SKMC	muscle:	n/a
43	chr17:20165967-20166017	LNCaP	prostate:	n/a
44	chr17:20225674-20225724	HCM	heart:	n/a
45	chr17:20171047-20171097	NH-A	brain:	n/a
46	chr17:20187457-20187507	H1-hESC	embryonic stem cell:	embryo
47	chr17:20223299-20223349	SKMC	muscle:	n/a
48	chr17:20180146-20180196	HAEpiC	amniotic membrane:	n/a
49	chr17:20187457-20187507	ovcar-3	ovarian:	n/a
50	chr17:20224345-20224395	BJ	skin:	n/a

(count:13 , 50 per page) page: 1

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

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC144C-1	chr17:20242793-20243632	NR_023380
2	lnc-CCDC144C-1	chr17:20241470-20241543	NR_023380
3	lnc-CCDC144C-1	chr17:20254251-20254284	NR_023380
4	lnc-CCDC144C-1	chr17:20227496-20227566	NR_023380
5	lnc-SPECC1-3	chr17:20244056-20244356	NONHSAT146561
6	lnc-SPECC1-1	chr17:20226197-20226286	ENSG00000263494.1
7	lnc-CCDC144C-1	chr17:20245671-20245807	NR_023380
8	lnc-CCDC144C-1	chr17:20239145-20239393	NR_023380
9	lnc-CCDC144C-1	chr17:20224487-20224973	NR_023380
10	lnc-CCDC144C-1	chr17:20254570-20254711	NR_023380
11	lnc-SPECC1-2	chr17:20226371-20226650	ENSG00000266839.1

No data

Variant related genes	Relation type
SPECC1	TF binding region
RN7SL17P	TF binding region
CCDC144CP	TF binding region
ENSG00000266839	TF binding region
RNU6-1057P	TF binding region
SPECC1	CpG island
RN7SL17P	CpG island
CCDC144CP	CpG island
ENSG00000266839	CpG island
RNU6-1057P	CpG island
ENSG00000252971	chromatin interactions

Extended variants
information (count: 3281 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:3281 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7214833	chr17:20158343-20158344	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577061609	chr17:20158397-20158398	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140562820	chr17:20158439-20158440	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550290538	chr17:20158495-20158496	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528235526	chr17:20158518-20158519	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187967383	chr17:20158532-20158533	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561424703	chr17:20158533-20158534	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141172431	chr17:20158537-20158538	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530457357	chr17:20158577-20158578	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192398709	chr17:20158659-20158660	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2703787	chr17:20158665-20158666	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs369088497	chr17:20158671-20158672	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552562030	chr17:20158707-20158708	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116619510	chr17:20158710-20158711	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183499240	chr17:20158716-20158717	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116014409	chr17:20158834-20158835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574979440	chr17:20158886-20158887	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546165273	chr17:20158906-20158907	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564468103	chr17:20158907-20158908	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537487083	chr17:20158914-20158915	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557325199	chr17:20158920-20158921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189355182	chr17:20158937-20158938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78511719	chr17:20158981-20158982	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35593452	chr17:20159060-20159061	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192310222	chr17:20159078-20159079	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559356570	chr17:20159087-20159088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572727839	chr17:20159134-20159135	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541608759	chr17:20159166-20159167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561486413	chr17:20159169-20159170	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554972995	chr17:20159196-20159197	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547142026	chr17:20159262-20159263	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530524201	chr17:20159271-20159272	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150443999	chr17:20159292-20159293	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528575031	chr17:20159293-20159294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145414044	chr17:20159298-20159299	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532765383	chr17:20159328-20159329	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552863269	chr17:20159335-20159336	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566362901	chr17:20159366-20159367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141471676	chr17:20159367-20159368	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548794873	chr17:20159372-20159373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567054940	chr17:20159382-20159383	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537549848	chr17:20159396-20159397	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539298467	chr17:20159404-20159405	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557139267	chr17:20159407-20159408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145149642	chr17:20159422-20159423	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539427495	chr17:20159434-20159435	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553265910	chr17:20159441-20159442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572791642	chr17:20159442-20159443	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541675691	chr17:20159449-20159450	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12601900	chr17:20159456-20159457	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:154)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2049 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20111600-20166000	Weak transcription	Right Ventricle	heart
2	chr17:20129200-20161600	Weak transcription	Fetal Brain Female	brain
3	chr17:20129600-20161600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:20130600-20161200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr17:20130600-20170000	Weak transcription	K562	blood
6	chr17:20130600-20170200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr17:20131800-20164400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr17:20136200-20161600	Weak transcription	Lung	lung
9	chr17:20136400-20160800	Weak transcription	Fetal Stomach	stomach
10	chr17:20136400-20161200	Weak transcription	Fetal Lung	lung
11	chr17:20136400-20209800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:20138400-20165200	Weak transcription	Primary B cells from cord blood	blood
13	chr17:20140400-20160800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr17:20148200-20165000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr17:20148200-20165600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:20148400-20161200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr17:20148400-20161600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:20148400-20161600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:20148600-20160400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:20148600-20161400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr17:20150000-20160800	Weak transcription	HSMMtube	muscle
22	chr17:20150400-20161400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr17:20150400-20170200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:20150800-20165600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr17:20151200-20164000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr17:20151600-20160800	Weak transcription	Spleen	Spleen
27	chr17:20151600-20161000	Weak transcription	Left Ventricle	heart
28	chr17:20151600-20164400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr17:20151600-20170800	Weak transcription	GM12878-XiMat	blood
30	chr17:20151600-20190000	Weak transcription	Colonic Mucosa	Colon
31	chr17:20151800-20158400	Weak transcription	Aorta	Aorta
32	chr17:20151800-20161000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:20151800-20161200	Weak transcription	Pancreas	Pancrea
34	chr17:20151800-20165800	Weak transcription	HMEC	breast
35	chr17:20151800-20167000	Weak transcription	NH-A	brain
36	chr17:20152000-20159800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr17:20152000-20160200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr17:20152000-20160800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr17:20152000-20161000	Weak transcription	Adipose Nuclei	Adipose
40	chr17:20152000-20161200	Weak transcription	NHEK	skin
41	chr17:20152800-20160600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:20152800-20169800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr17:20152800-20176200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr17:20153000-20160800	Weak transcription	Brain Germinal Matrix	brain
45	chr17:20153000-20161000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr17:20153600-20159600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr17:20153600-20160400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr17:20153600-20160800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr17:20153600-20161600	Weak transcription	Fetal Brain Male	brain
50	chr17:20153600-20161800	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

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