Variant report

Variant	nsv482489
Chromosome Location	chr17:20552253-20751738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1258)
CpG islands
(count:1099)
Chromatin interactive
region (count:15)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1258 , 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	ARID3A	chr17:20704874-20705183	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:20704861-20705241	K562	blood:	n/a	n/a
3	ARID3A	chr17:20728931-20729193	HepG2	liver:	n/a	n/a
4	ATF1	chr17:20637414-20637538	K562	blood:	n/a	n/a
5	ATF1	chr17:20705017-20705455	K562	blood:	n/a	n/a
6	ATF2	chr17:20552417-20552929	GM12878	blood:	n/a	n/a
7	ATF2	chr17:20552401-20552830	GM12878	blood:	n/a	n/a
8	ATF3	chr17:20705184-20705381	K562	blood:	n/a	n/a
9	BATF	chr17:20568713-20568948	GM12878	blood:	n/a	chr17:20568784-20568795
10	BATF	chr17:20552419-20552811	GM12878	blood:	n/a	n/a
11	BATF	chr17:20552423-20552925	GM12878	blood:	n/a	n/a
12	BATF	chr17:20554357-20554645	GM12878	blood:	n/a	n/a
13	BATF	chr17:20602164-20602479	GM12878	blood:	n/a	n/a
14	BATF	chr17:20602187-20602524	GM12878	blood:	n/a	n/a
15	BATF	chr17:20573899-20574074	GM12878	blood:	n/a	n/a
16	BCL11A	chr17:20552438-20552751	GM12878	blood:	n/a	n/a
17	BCL11A	chr17:20554373-20554609	GM12878	blood:	n/a	n/a
18	BCL11A	chr17:20559489-20559685	GM12878	blood:	n/a	n/a
19	BCL11A	chr17:20602069-20602629	GM12878	blood:	n/a	n/a
20	BCL11A	chr17:20581794-20582050	GM12878	blood:	n/a	chr17:20582005-20582012
21	BCL11A	chr17:20602137-20602533	GM12878	blood:	n/a	n/a
22	BCL11A	chr17:20554375-20554592	GM12878	blood:	n/a	n/a
23	BCL11A	chr17:20603932-20604264	GM12878	blood:	n/a	n/a
24	BCL11A	chr17:20552374-20552875	GM12878	blood:	n/a	n/a
25	BCL3	chr17:20709113-20709421	GM12878	blood:	n/a	n/a
26	BCL3	chr17:20705190-20705506	GM12878	blood:	n/a	n/a
27	BCL3	chr17:20674383-20674846	GM12878	blood:	n/a	n/a
28	BCL3	chr17:20709064-20709387	GM12878	blood:	n/a	n/a
29	BCL3	chr17:20674472-20674782	GM12878	blood:	n/a	n/a
30	BHLHE40	chr17:20602321-20602362	GM12878	blood:	n/a	n/a
31	BHLHE40	chr17:20552469-20552691	GM12878	blood:	n/a	n/a
32	CEBPB	chr17:20694210-20694456	IMR90	lung:	n/a	n/a
33	CEBPB	chr17:20624537-20624839	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr17:20624556-20624832	A549	lung:	n/a	n/a
35	CEBPB	chr17:20672466-20672706	HepG2	liver:	n/a	chr17:20672562-20672573
36	CEBPB	chr17:20568666-20568987	K562	blood:	n/a	chr17:20568791-20568804
37	CEBPB	chr17:20557555-20557814	IMR90	lung:	n/a	chr17:20557790-20557807
38	CEBPB	chr17:20625585-20625841	HepG2	liver:	n/a	chr17:20625724-20625737
39	CEBPB	chr17:20694301-20694315	K562	blood:	n/a	n/a
40	CEBPB	chr17:20621783-20621875	A549	lung:	n/a	n/a
41	CEBPB	chr17:20694241-20694331	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr17:20694124-20694444	HepG2	liver:	n/a	n/a
43	CEBPB	chr17:20672431-20672674	K562	blood:	n/a	chr17:20672562-20672573
44	CEBPB	chr17:20557457-20557822	Hela-S3	cervix:	n/a	chr17:20557790-20557807
45	CEBPB	chr17:20728916-20729267	HepG2	liver:	n/a	chr17:20729094-20729105 chr17:20729093-20729106
46	CEBPB	chr17:20614479-20614538	K562	blood:	n/a	n/a
47	CEBPB	chr17:20694201-20694462	A549	lung:	n/a	n/a
48	CHD1	chr17:20552549-20552628	GM12878	blood:	n/a	n/a
49	CHD2	chr17:20602331-20602356	GM12878	blood:	n/a	n/a
50	CHD2	chr17:20705376-20705463	K562	blood:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20688483-20688533	AG09309	skin:	n/a
2	chr17:20688483-20688533	AG09309	skin:	n/a
3	chr17:20747314-20747364	NB4	blood:	n/a
4	chr17:20745278-20745328	HRCEpiC	kidney:	n/a
5	chr17:20687761-20687811	Hela-S3	cervix:	n/a
6	chr17:20687681-20687731	PrEC	prostate:	n/a
7	chr17:20688483-20688533	AoSMC	blood vessel:	n/a
8	chr17:20744547-20744597	HNPCEpiC	eye:	n/a
9	chr17:20751508-20751558	HPAEpiC	pulmonary alveolar:	n/a
10	chr17:20744682-20744732	BE2_C	brain:	n/a
11	chr17:20688483-20688533	SK-N-MC	brain:	n/a
12	chr17:20744682-20744732	Hela-S3	cervix:	n/a
13	chr17:20687481-20687531	HCF	heart:	n/a
14	chr17:20747199-20747249	MCF-7	breast:	n/a
15	chr17:20747058-20747108	HRCEpiC	kidney:	n/a
16	chr17:20687698-20687748	HAEpiC	amniotic membrane:	n/a
17	chr17:20747058-20747108	HEK293	kidney:	embryo
18	chr17:20687481-20687531	NT2-D1	testis:	n/a
19	chr17:20687481-20687531	HepG2	liver:	n/a
20	chr17:20687681-20687731	HIPEpiC	eye:	n/a
21	chr17:20687681-20687731	H1-hESC	embryonic stem cell:	embryo
22	chr17:20687481-20687531	GM12878	blood:	n/a
23	chr17:20687761-20687811	HRCEpiC	kidney:	n/a
24	chr17:20687481-20687531	U87	brain:	n/a
25	chr17:20744547-20744597	HUVEC	blood vessel:	n/a
26	chr17:20688522-20688572	Hela-S3	cervix:	n/a
27	chr17:20683924-20683974	HRPEpiC	eye:	n/a
28	chr17:20687761-20687811	NHDF-neo	bronchial:	n/a
29	chr17:20745278-20745328	T-47D	breast:	n/a
30	chr17:20747199-20747249	SAEC	small airway:	n/a
31	chr17:20747058-20747108	NH-A	brain:	n/a
32	chr17:20747199-20747249	SK-N-MC	brain:	n/a
33	chr17:20744547-20744597	LNCaP	prostate:	n/a
34	chr17:20690807-20690857	HNPCEpiC	eye:	n/a
35	chr17:20744547-20744597	A549	lung:	n/a
36	chr17:20687681-20687731	HUVEC	blood vessel:	n/a
37	chr17:20744547-20744597	PrEC	prostate:	n/a
38	chr17:20744682-20744732	BJ	skin:	n/a
39	chr17:20744682-20744732	AG04450	lung:	fetal
40	chr17:20744682-20744732	AG09309	skin:	n/a
41	chr17:20687912-20687962	Hela-S3	cervix:	n/a
42	chr17:20747073-20747123	GM12891	blood:	n/a
43	chr17:20688522-20688572	AG09319	gingival:	n/a
44	chr17:20744547-20744597	Hepatocyte	liver:	n/a
45	chr17:20745278-20745328	Hepatocyte	liver:	n/a
46	chr17:20688522-20688572	GM12892	blood:	n/a
47	chr17:20688522-20688572	AG04449	skin:	fetal
48	chr17:20744547-20744597	GM12892	blood:	n/a
49	chr17:20744682-20744732	AG10803	skin:	n/a
50	chr17:20747058-20747108	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr17:20610050..20610947-chr17:30454022..30454629,2	Hela-S3	cervix:
2	chr17:20689022..20691056-chr17:20693730..20696703,2	K562	blood:
3	chr17:20640004..20640962-chr17:58024195..58025007,2	MCF-7	breast:
4	chr17:20689022..20691056-chr17:20693730..20696703,2	K562	blood:
5	chr17:20647874..20648866-chr17:58031160..58032144,3	MCF-7	breast:
6	chr17:20698627..20701345-chr17:20703321..20705574,3	K562	blood:
7	chr17:20678328..20679928-chr17:20703647..20705362,2	K562	blood:
8	chr17:20639441..20641960-chr17:20642430..20644326,2	K562	blood:
9	chr17:20704648..20705333-chr17:20895940..20896489,2	MCF-7	breast:
10	chr17:20649688..20651234-chr17:58034050..58037704,4	MCF-7	breast:
11	chr17:20651225..20652727-chr17:58034005..58036459,2	MCF-7	breast:
12	chr17:20649661..20650164-chr17:58032683..58033398,2	MCF-7	breast:
13	chr17:20698627..20701345-chr17:20703321..20705574,3	K562	blood:
14	chr17:20646890..20651186-chr17:58030459..58033432,3	MCF-7	breast:
15	chr17:20639441..20641960-chr17:20642430..20644326,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDRT15L2-1	chr17:20692057-20692707	XLOC_012138
2	lnc-CDRT15L2-6	chr17:20725611-20728107	FPKM1_group_12497_transcript_4
3	lnc-CDRT15L2-1	chr17:20691384-20692912	NONHSAT146833
4	lnc-CDRT15L2-6	chr17:20725246-20725730	NONHSAT146837
5	lnc-CCDC144NL-5	chr17:20674371-20674740	NONHSAT146831
6	lnc-CDRT15L2-5	chr17:20678955-20680218	NONHSAT146832
7	lnc-CDRT15L2-6	chr17:20728896-20731392	NONHSAT146837
8	lnc-CCDC144NL-4	chr17:20692530-20692908	NONHSAT146835
9	lnc-CDRT15L2-1	chr17:20691384-20692897	ENSG00000264215.1
10	lnc-CDRT15L2-1	chr17:20691697-20691952	XLOC_012138
11	lnc-CDRT15L2-6	chr17:20725246-20725730	FPKM1_group_12497_transcript_4

No data

Variant related genes	Relation type
OLA1P2	TF binding region
SCDP1	TF binding region
ENSG00000264874	TF binding region
ABHD17AP6	TF binding region
HNRNPA1P19	TF binding region
ENSG00000226521	TF binding region
ENSG00000264215	TF binding region
RNFT1P3	TF binding region
ENSG00000264662	TF binding region
OLA1P2	CpG island
SCDP1	CpG island
ENSG00000264874	CpG island
ABHD17AP6	CpG island
HNRNPA1P19	CpG island
ENSG00000226521	CpG island
ENSG00000264215	CpG island
RNFT1P3	CpG island
ENSG00000264662	CpG island
ENSG00000213671	chromatin interactions
ENSG00000189050	chromatin interactions
ENSG00000108443	chromatin interactions

Extended variants
information (count: 5262 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:5262 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200643011	chr17:20552253-20552254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531506098	chr17:20552262-20552263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549724671	chr17:20552302-20552303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186437743	chr17:20552317-20552318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529346708	chr17:20552331-20552332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148711747	chr17:20552374-20552375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190795202	chr17:20552394-20552395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113842185	chr17:20552402-20552403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540007987	chr17:20552408-20552409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547501726	chr17:20552467-20552468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182997013	chr17:20552488-20552489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570320964	chr17:20552498-20552499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142368058	chr17:20552521-20552522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151271782	chr17:20552529-20552530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574403494	chr17:20552538-20552539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535188535	chr17:20552577-20552578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553798801	chr17:20552633-20552634	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs186806857	chr17:20552657-20552658	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs572069048	chr17:20552690-20552691	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs369694503	chr17:20552717-20552718	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs545547602	chr17:20552727-20552728	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs557542613	chr17:20552740-20552741	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs575923065	chr17:20552754-20552755	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs543339887	chr17:20552773-20552774	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561919450	chr17:20552783-20552784	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs529253266	chr17:20552785-20552786	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs541085302	chr17:20552786-20552787	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs191650083	chr17:20552795-20552796	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs533472720	chr17:20552807-20552808	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs542712477	chr17:20552827-20552828	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs150302363	chr17:20552830-20552831	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs183049336	chr17:20552842-20552843	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs531211875	chr17:20552853-20552854	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs549687385	chr17:20552857-20552858	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528715684	chr17:20552874-20552875	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs149031151	chr17:20552901-20552902	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs535401830	chr17:20552991-20552992	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs553492234	chr17:20553040-20553041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373192837	chr17:20553041-20553042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12603735	chr17:20553054-20553055	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs143221849	chr17:20553096-20553097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12451088	chr17:20553109-20553110	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs34383277	chr17:20553126-20553127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575866634	chr17:20553148-20553149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12601671	chr17:20553164-20553165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116289696	chr17:20553167-20553168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12450969	chr17:20553210-20553211	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs11204309	chr17:20553221-20553222	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs541372445	chr17:20553261-20553262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150688540	chr17:20553280-20553281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:153)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20550400-20553000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:20551200-20552600	Enhancers	GM12878-XiMat	blood
3	chr17:20551600-20556400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr17:20551800-20555800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr17:20552000-20553400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr17:20552000-20555800	Enhancers	Primary B cells from peripheral blood	blood
7	chr17:20552600-20553000	Flanking Active TSS	GM12878-XiMat	blood
8	chr17:20553000-20553200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:20553000-20556000	Enhancers	GM12878-XiMat	blood
10	chr17:20553200-20554000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:20553400-20553800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr17:20553800-20554400	Enhancers	Primary hematopoietic stem cells	blood
13	chr17:20553800-20555600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr17:20554000-20555400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:20554000-20555800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:20554000-20555800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:20554200-20554600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr17:20554400-20554800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:20554800-20555400	Enhancers	Primary hematopoietic stem cells	blood
20	chr17:20555000-20555200	Enhancers	Placenta	Placenta
21	chr17:20556000-20557000	Weak transcription	GM12878-XiMat	blood
22	chr17:20556400-20557000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr17:20557000-20557200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr17:20557000-20557200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:20557000-20557200	Bivalent Enhancer	HSMMtube	muscle
26	chr17:20557000-20557400	Enhancers	GM12878-XiMat	blood
27	chr17:20557200-20557400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:20557200-20557600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:20557200-20557600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:20557200-20557600	Enhancers	HSMMtube	muscle
31	chr17:20557200-20558400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr17:20557400-20557600	Bivalent Enhancer	Placenta	Placenta
33	chr17:20557400-20557800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr17:20557600-20557800	Enhancers	Lung	lung
35	chr17:20557600-20558200	Enhancers	Placenta	Placenta
36	chr17:20558000-20558200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:20568000-20570200	Enhancers	Fetal Intestine Small	intestine
38	chr17:20568200-20568800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr17:20568200-20568800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr17:20568200-20570200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr17:20568200-20572000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr17:20568400-20568600	Enhancers	Fetal Intestine Large	intestine
43	chr17:20568400-20569600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:20568400-20572000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr17:20568800-20569200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr17:20569000-20570000	Weak transcription	Fetal Intestine Large	intestine
47	chr17:20569200-20569600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr17:20569400-20570200	Enhancers	Placenta	Placenta
49	chr17:20570000-20570400	Enhancers	Fetal Intestine Large	intestine
50	chr17:20572000-20576000	Weak transcription	Primary monocytes fromperipheralblood	blood

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