Variant report

Variant	esv3382860
Chromosome Location	chr17:19894909-19918588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1231)
CpG islands
(count:550)
Chromatin interactive
region (count:19)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1231 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:19913458-19914684	K562	blood:	n/a	n/a
2	ARID3A	chr17:19912497-19912755	HepG2	liver:	n/a	n/a
3	ARID3A	chr17:19896087-19896441	HepG2	liver:	n/a	n/a
4	ARID3A	chr17:19912565-19912736	K562	blood:	n/a	n/a
5	ARID3A	chr17:19896120-19896370	K562	blood:	n/a	n/a
6	ATF2	chr17:19896131-19896553	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr17:19895966-19896385	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr17:19912503-19912733	K562	blood:	n/a	n/a
9	ATF3	chr17:19896117-19896627	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr17:19896157-19896494	HepG2	liver:	n/a	n/a
11	ATF3	chr17:19913172-19913836	A549	lung:	n/a	n/a
12	ATF3	chr17:19896114-19896534	K562	blood:	n/a	n/a
13	ATF3	chr17:19912531-19912685	GM12878	blood:	n/a	n/a
14	ATF3	chr17:19912459-19912748	HepG2	liver:	n/a	n/a
15	ATF3	chr17:19896123-19896528	A549	lung:	n/a	n/a
16	ATF3	chr17:19896152-19896445	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr17:19912569-19912609	K562	blood:	n/a	n/a
18	BACH1	chr17:19896152-19896268	K562	blood:	n/a	n/a
19	BACH1	chr17:19896079-19896398	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr17:19913142-19913830	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr17:19912090-19912788	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL3	chr17:19912998-19914071	A549	lung:	n/a	chr17:19913312-19913325
23	BCL3	chr17:19895283-19895575	GM12878	blood:	n/a	n/a
24	BCL3	chr17:19911733-19912969	A549	lung:	n/a	chr17:19912204-19912213 chr17:19912537-19912550 chr17:19912089-19912098
25	BCLAF1	chr17:19912333-19912792	GM12878	blood:	n/a	chr17:19912537-19912550
26	BHLHE40	chr17:19912486-19913951	K562	blood:	n/a	chr17:19912986-19913002 chr17:19912563-19912579 chr17:19912536-19912552 chr17:19912532-19912548
27	BHLHE40	chr17:19912461-19912794	GM12878	blood:	n/a	chr17:19912563-19912579 chr17:19912536-19912552 chr17:19912532-19912548
28	BHLHE40	chr17:19896179-19896436	K562	blood:	n/a	n/a
29	BHLHE40	chr17:19896071-19896297	GM12878	blood:	n/a	n/a
30	BHLHE40	chr17:19901542-19901723	HepG2	liver:	n/a	n/a
31	BRCA1	chr17:19896159-19896417	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr17:19912486-19912734	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr17:19912511-19912732	HepG2	liver:	n/a	n/a
34	BRCA1	chr17:19896138-19896461	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr17:19913479-19913995	K562	blood:	n/a	n/a
36	CCNT2	chr17:19912034-19913946	K562	blood:	n/a	chr17:19913098-19913107 chr17:19913659-19913679
37	CEBPB	chr17:19896139-19896593	MCF-7	breast:	n/a	n/a
38	CEBPB	chr17:19896143-19896542	A549	lung:	n/a	n/a
39	CEBPB	chr17:19896142-19896640	A549	lung:	n/a	n/a
40	CEBPB	chr17:19896107-19896551	MCF-7	breast:	n/a	n/a
41	CEBPB	chr17:19896166-19896541	HepG2	liver:	n/a	n/a
42	CEBPB	chr17:19895976-19896678	HCT-116	colon:	n/a	n/a
43	CEBPB	chr17:19896209-19896461	HepG2	liver:	n/a	n/a
44	CEBPB	chr17:19896087-19896550	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr17:19896131-19896562	ECC-1	luminal epithelium:	n/a	n/a
46	CEBPB	chr17:19912551-19912675	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr17:19896083-19896576	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr17:19896125-19896481	ECC-1	luminal epithelium:	n/a	n/a
49	CEBPB	chr17:19916035-19916238	K562	blood:	n/a	n/a
50	CEBPB	chr17:19896108-19896547	A549	lung:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:19912177-19912227	HCF	heart:	n/a
2	chr17:19912177-19912227	HCF	heart:	n/a
3	chr17:19912430-19912480	AG04450	lung:	fetal
4	chr17:19913619-19913669	HCM	heart:	n/a
5	chr17:19913408-19913458	HNPCEpiC	eye:	n/a
6	chr17:19913217-19913267	U87	brain:	n/a
7	chr17:19912916-19912966	A549	lung:	n/a
8	chr17:19912916-19912966	GM19239	blood:	n/a
9	chr17:19913217-19913267	HCF	heart:	n/a
10	chr17:19913408-19913458	GM06990	blood:	n/a
11	chr17:19913408-19913458	AG04450	lung:	fetal
12	chr17:19912480-19912530	NT2-D1	testis:	n/a
13	chr17:19912480-19912530	IMR90	lung:	fetal
14	chr17:19912430-19912480	PANC-1	pancreas:	n/a
15	chr17:19913408-19913458	IMR90	lung:	fetal
16	chr17:19912840-19912890	AG09309	skin:	n/a
17	chr17:19913619-19913669	PANC-1	pancreas:	n/a
18	chr17:19912840-19912890	IMR90	lung:	fetal
19	chr17:19912916-19912966	Hepatocyte	liver:	n/a
20	chr17:19912177-19912227	HEK293	kidney:	embryo
21	chr17:19912840-19912890	HMEC	breast:	n/a
22	chr17:19912719-19912769	Jurkat	blood:	n/a
23	chr17:19913619-19913669	HL-60	blood:	n/a
24	chr17:19912916-19912966	PFSK-1	brain:	n/a
25	chr17:19913619-19913669	HRE	kidney:	n/a
26	chr17:19912719-19912769	HAEpiC	amniotic membrane:	n/a
27	chr17:19912916-19912966	HL-60	blood:	n/a
28	chr17:19912430-19912480	SKMC	muscle:	n/a
29	chr17:19913619-19913669	Caco-2	colon:	n/a
30	chr17:19912177-19912227	GM12892	blood:	n/a
31	chr17:19913408-19913458	PANC-1	pancreas:	n/a
32	chr17:19912916-19912966	GM12878	blood:	n/a
33	chr17:19912430-19912480	NT2-D1	testis:	n/a
34	chr17:19912916-19912966	HIPEpiC	eye:	n/a
35	chr17:19912480-19912530	HepG2	liver:	n/a
36	chr17:19912916-19912966	HRPEpiC	eye:	n/a
37	chr17:19912719-19912769	HCM	heart:	n/a
38	chr17:19913619-19913669	HEEpiC	esophagus:	n/a
39	chr17:19913217-19913267	IMR90	lung:	fetal
40	chr17:19913619-19913669	AG04450	lung:	fetal
41	chr17:19912430-19912480	ECC-1	luminal epithelium:	n/a
42	chr17:19912480-19912530	ovcar-3	ovarian:	n/a
43	chr17:19912480-19912530	HUVEC	blood vessel:	n/a
44	chr17:19912480-19912530	AG04450	lung:	fetal
45	chr17:19912840-19912890	AG09319	gingival:	n/a
46	chr17:19913408-19913458	NB4	blood:	n/a
47	chr17:19912840-19912890	LNCaP	prostate:	n/a
48	chr17:19912840-19912890	GM12892	blood:	n/a
49	chr17:19913217-19913267	AG10803	skin:	n/a
50	chr17:19912430-19912480	HCM	heart:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:19770311..19771954-chr17:19910328..19912594,2	MCF-7	breast:
2	chr17:19894457..19896275-chr17:19994382..19996657,2	MCF-7	breast:
3	chr17:19910547..19915566-chr17:19915848..19919362,6	K562	blood:
4	chr17:19915750..19917622-chr17:19925482..19928326,2	K562	blood:
5	chr17:19895922..19896796-chr17:19912132..19914006,4	MCF-7	breast:
6	chr17:19879669..19882225-chr17:19910498..19912176,2	K562	blood:
7	chr17:19912162..19913083-chr17:19998469..19999472,3	MCF-7	breast:
8	chr17:19895835..19896749-chr17:20019766..20020654,3	MCF-7	breast:
9	chr17:19881019..19882535-chr17:19912703..19915442,2	K562	blood:
10	chr17:19879148..19882537-chr17:19911149..19913260,3	MCF-7	breast:
11	chr17:19895791..19896736-chr17:19912250..19913099,3	K562	blood:
12	chr17:19908823..19910742-chr17:19910847..19912569,3	K562	blood:
13	chr17:19912973..19913861-chr17:19998764..19999738,2	K562	blood:
14	chr17:19895701..19896691-chr17:20019722..20020794,7	K562	blood:
15	chr17:19895744..19896716-chr17:20019670..20020642,8	MCF-7	breast:
16	chr17:19913275..19914049-chr17:19998274..19999008,2	MCF-7	breast:
17	chr17:19913353..19915145-chr17:20008243..20011168,2	K562	blood:
18	chr17:19895147..19897764-chr17:19911354..19913515,3	K562	blood:
19	chr17:19911578..19915566-chr17:19916147..19920228,5	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKAP10-1	chr17:19911364-19912547	ENSG00000261033.1
2	lnc-AKAP10-1	chr17:19912700-19912704	NONHSAT146538
3	lnc-AKAP10-1	chr17:19911108-19911120	NONHSAT146538
4	lnc-AKAP10-1	chr17:19911368-19912547	NONHSAT146538

No data

Variant related genes	Relation type
ENSG00000261033	TF binding region
SPECC1	TF binding region
ENSG00000261033	CpG island
SPECC1	CpG island
ENSG00000261033	chromatin interactions
ENSG00000083290	chromatin interactions
ENSG00000108599	chromatin interactions
ENSG00000128487	chromatin interactions

Extended variants
information (count: 918 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140280187	chr17:19894950-19894951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185876350	chr17:19894959-19894960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548712758	chr17:19894967-19894968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145812378	chr17:19894973-19894974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537459574	chr17:19894982-19894983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75225138	chr17:19895056-19895057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138922237	chr17:19895076-19895077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138391761	chr17:19895095-19895096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539707669	chr17:19895121-19895122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571918714	chr17:19895137-19895138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12453720	chr17:19895202-19895203	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs188592081	chr17:19895204-19895205	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555479014	chr17:19895212-19895213	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs12450857	chr17:19895248-19895249	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs544216145	chr17:19895304-19895305	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs563703460	chr17:19895333-19895334	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs532748851	chr17:19895390-19895391	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs193169770	chr17:19895442-19895443	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs185059315	chr17:19895443-19895444	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559613042	chr17:19895477-19895478	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs376907247	chr17:19895519-19895520	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs528721930	chr17:19895542-19895543	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs548450192	chr17:19895557-19895558	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs568547516	chr17:19895614-19895615	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs530884273	chr17:19895625-19895626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs551013132	chr17:19895647-19895648	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs142009339	chr17:19895677-19895678	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs539822380	chr17:19895717-19895718	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs553351234	chr17:19895720-19895721	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs543441084	chr17:19895838-19895839	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546621531	chr17:19895879-19895880	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs188848197	chr17:19895913-19895914	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs551907629	chr17:19895943-19895944	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555243652	chr17:19895954-19895955	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs529137179	chr17:19896018-19896019	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs575312829	chr17:19896021-19896022	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs543935949	chr17:19896037-19896038	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs570454301	chr17:19896049-19896050	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs78631865	chr17:19896128-19896129	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs56009422	chr17:19896132-19896133	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs112538214	chr17:19896135-19896136	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs34765027	chr17:19896163-19896164	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs577264143	chr17:19896164-19896165	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs539831396	chr17:19896184-19896185	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534403482	chr17:19896193-19896194	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs150681990	chr17:19896333-19896334	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs181305055	chr17:19896371-19896372	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs542433250	chr17:19896441-19896442	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs183945674	chr17:19896445-19896446	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs150469388	chr17:19896503-19896504	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:152)

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
Colorectal cancer	16774939	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
Autism	22543975	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19890600-19899800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr17:19890800-19896400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr17:19890800-19899400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:19890800-19899800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:19890800-19899800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:19891400-19896400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr17:19891600-19899800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr17:19891800-19896400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr17:19892000-19896400	Weak transcription	K562	blood
10	chr17:19893600-19895000	Enhancers	Brain Cingulate Gyrus	brain
11	chr17:19893800-19895800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:19894000-19895200	Enhancers	Brain Hippocampus Middle	brain
13	chr17:19894000-19895200	Enhancers	Brain Substantia Nigra	brain
14	chr17:19894200-19895000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:19894200-19895000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr17:19894200-19895600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:19894400-19895000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr17:19894400-19895200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:19894600-19895000	Enhancers	Brain Anterior Caudate	brain
20	chr17:19894600-19895000	Enhancers	A549	lung
21	chr17:19894600-19895200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:19894600-19895200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:19894800-19895000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr17:19894800-19895000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:19894800-19895000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr17:19894800-19896200	Weak transcription	Hela-S3	cervix
27	chr17:19894800-19896400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:19895000-19895400	Weak transcription	Brain Anterior Caudate	brain
29	chr17:19895000-19896200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:19895000-19896200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr17:19895000-19896200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr17:19895000-19896200	Weak transcription	A549	lung
33	chr17:19895000-19896400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:19895000-19896400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr17:19895000-19896400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr17:19895200-19896200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:19895200-19896200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:19895200-19896200	Weak transcription	Brain Hippocampus Middle	brain
39	chr17:19895200-19896200	Weak transcription	Brain Substantia Nigra	brain
40	chr17:19895400-19895600	Enhancers	Brain Anterior Caudate	brain
41	chr17:19895600-19896200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:19895600-19896400	Weak transcription	Brain Anterior Caudate	brain
43	chr17:19895800-19896400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr17:19896200-19896400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:19896200-19896400	Active TSS	Brain Angular Gyrus	brain
46	chr17:19896200-19896400	Active TSS	Brain Hippocampus Middle	brain
47	chr17:19896200-19896400	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr17:19896200-19896400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr17:19896200-19896400	Active TSS	HepG2	liver
50	chr17:19896200-19896600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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