Variant report

Variant	nsv112170
Chromosome Location	chr17:19655486-19662348
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr17:19658022-19658493	GM12878	blood:	n/a	n/a
2	ATF3	chr17:19655686-19657537	A549	lung:	n/a	n/a
3	ATF3	chr17:19657083-19657608	A549	lung:	n/a	n/a
4	ATF3	chr17:19656201-19656926	A549	lung:	n/a	n/a
5	BACH1	chr17:19656327-19656687	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr17:19657204-19657396	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr17:19659137-19659427	GM12878	blood:	n/a	n/a
8	BCL11A	chr17:19658028-19658373	GM12878	blood:	n/a	n/a
9	BCL11A	chr17:19659127-19659464	GM12878	blood:	n/a	n/a
10	BCL3	chr17:19655518-19657605	A549	lung:	n/a	n/a
11	BCL3	chr17:19655354-19657717	A549	lung:	n/a	n/a
12	BCL3	chr17:19659031-19659510	GM12878	blood:	n/a	n/a
13	BHLHE40	chr17:19655484-19656735	A549	lung:	n/a	n/a
14	BRCA1	chr17:19656321-19657468	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr17:19655207-19655486	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr17:19655733-19657520	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr17:19655194-19655497	ECC-1	luminal epithelium:	n/a	n/a
18	CEBPB	chr17:19656310-19656824	ECC-1	luminal epithelium:	n/a	n/a
19	CHD2	chr17:19656207-19657517	Hela-S3	cervix:	n/a	n/a
20	CREB1	chr17:19656980-19657466	A549	lung:	n/a	n/a
21	CREB1	chr17:19655590-19656108	A549	lung:	n/a	n/a
22	CREB1	chr17:19656124-19656814	A549	lung:	n/a	n/a
23	CTCF	chr17:19657257-19657454	GM19238	blood:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
24	CTCF	chr17:19657320-19657470	HPAF	blood vessel:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
25	CTCF	chr17:19657300-19657450	HRE	kidney:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
26	CTCF	chr17:19657056-19657705	SK-N-SH	brain:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
27	CTCF	chr17:19657241-19657473	Pancreas_OC	pancreas:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
28	CTCF	chr17:19657300-19657450	HepG2	liver:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
29	CTCF	chr17:19658780-19658930	GM12864	blood:	n/a	n/a
30	CTCF	chr17:19658780-19658861	GM19238	blood:	n/a	n/a
31	CTCF	chr17:19657276-19657506	K562	blood:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
32	CTCF	chr17:19658760-19658910	GM12875	blood:	n/a	n/a
33	CTCF	chr17:19657041-19657619	MCF-7	breast:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
34	CTCF	chr17:19657300-19657450	HCT-116	colon:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
35	CTCF	chr17:19658861-19658864	GM12891	blood:	n/a	n/a
36	CTCF	chr17:19657280-19657430	GM12873	blood:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
37	CTCF	chr17:19658780-19658930	GM12873	blood:	n/a	n/a
38	CTCF	chr17:19657280-19657430	HA-sp	spinal cord:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
39	CTCF	chr17:19656404-19656534	NHEK	skin:	n/a	n/a
40	CTCF	chr17:19657248-19657472	H1-hESC	embryonic stem cell:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
41	CTCF	chr17:19657360-19657510	HFF-Myc	foreskin:	n/a	chr17:19657361-19657374
42	CTCF	chr17:19657240-19657390	NHDF-neo	bronchial:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
43	CTCF	chr17:19657300-19657450	HA-sp	spinal cord:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
44	CTCF	chr17:19657280-19657430	WERI-Rb-1	eye:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
45	CTCF	chr17:19657289-19657445	HepG2	liver:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
46	CTCF	chr17:19657246-19657467	Kidney_OC	kidney:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
47	CTCF	chr17:19657280-19657430	AG04450	lung:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
48	CTCF	chr17:19657240-19657390	WERI-Rb-1	eye:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370
49	CTCF	chr17:19656380-19656530	HRE	kidney:	n/a	n/a
50	CTCF	chr17:19657300-19657450	BE2_C	brain:	n/a	chr17:19657361-19657374 chr17:19657354-19657367 chr17:19657352-19657370

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:19656554-19656604	NB4	blood:	n/a
2	chr17:19656554-19656604	H1-hESC	embryonic stem cell:	embryo
3	chr17:19656554-19656604	GM19239	blood:	n/a
4	chr17:19656554-19656604	GM06990	blood:	n/a
5	chr17:19656554-19656604	SK-N-MC	brain:	n/a
6	chr17:19656554-19656604	GM12878	blood:	n/a
7	chr17:19656554-19656604	SK-N-SH_RA	brain:	n/a
8	chr17:19656554-19656604	Jurkat	blood:	n/a
9	chr17:19656554-19656604	HPAEpiC	pulmonary alveolar:	n/a
10	chr17:19656554-19656604	PFSK-1	brain:	n/a
11	chr17:19656554-19656604	ovcar-3	ovarian:	n/a
12	chr17:19656554-19656604	HRE	kidney:	n/a
13	chr17:19656554-19656604	HCT-116	colon:	n/a
14	chr17:19656554-19656604	A549	lung:	n/a
15	chr17:19656554-19656604	HCPEpiC	choroid plexus:	n/a
16	chr17:19656554-19656604	BJ	skin:	n/a
17	chr17:19656554-19656604	RPTEC	kidney:	n/a
18	chr17:19656554-19656604	MCF10A-Er-Src	breast:	n/a
19	chr17:19656554-19656604	GM12891	blood:	n/a
20	chr17:19656554-19656604	HEEpiC	esophagus:	n/a
21	chr17:19656554-19656604	HEK293	kidney:	embryo
22	chr17:19656554-19656604	HCF	heart:	n/a
23	chr17:19656554-19656604	HRCEpiC	kidney:	n/a
24	chr17:19656554-19656604	U87	brain:	n/a
25	chr17:19656554-19656604	AoSMC	blood vessel:	n/a
26	chr17:19656554-19656604	HCM	heart:	n/a
27	chr17:19656554-19656604	ECC-1	luminal epithelium:	n/a
28	chr17:19656554-19656604	PANC-1	pancreas:	n/a
29	chr17:19656554-19656604	HRPEpiC	eye:	n/a
30	chr17:19656554-19656604	HNPCEpiC	eye:	n/a
31	chr17:19656554-19656604	Caco-2	colon:	n/a
32	chr17:19656554-19656604	PrEC	prostate:	n/a
33	chr17:19656554-19656604	LNCaP	prostate:	n/a
34	chr17:19656554-19656604	NT2-D1	testis:	n/a
35	chr17:19656554-19656604	HMEC	breast:	n/a
36	chr17:19656554-19656604	Hepatocyte	liver:	n/a
37	chr17:19656554-19656604	T-47D	breast:	n/a
38	chr17:19656554-19656604	HAEpiC	amniotic membrane:	n/a
39	chr17:19656554-19656604	IMR90	lung:	fetal
40	chr17:19656554-19656604	HUVEC	blood vessel:	n/a
41	chr17:19656554-19656604	AG10803	skin:	n/a
42	chr17:19656554-19656604	Hela-S3	cervix:	n/a
43	chr17:19656554-19656604	CMK	blood:	n/a
44	chr17:19656554-19656604	AG04449	skin:	fetal
45	chr17:19656554-19656604	HepG2	liver:	n/a
46	chr17:19656554-19656604	GM12892	blood:	n/a
47	chr17:19656554-19656604	BE2_C	brain:	n/a
48	chr17:19656554-19656604	AG09319	gingival:	n/a
49	chr17:19656554-19656604	ProgFib	skin:	n/a
50	chr17:19656554-19656604	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67407271..67408048-chr17:19655503..19656398,3	MCF-7	breast:
2	chr11:67397857..67399603-chr17:19654494..19656370,2	MCF-7	breast:
3	chr17:19657133..19657845-chr20:45802558..45803277,2	MCF-7	breast:
4	chr17:19627605..19629507-chr17:19658894..19661026,2	MCF-7	breast:
5	chr11:67406449..67409216-chr17:19654457..19656822,7	MCF-7	breast:
6	chr17:19657020..19657638-chr17:19669487..19670405,2	MCF-7	breast:
7	chr17:19656684..19658708-chr17:19659226..19661401,3	MCF-7	breast:
8	chr17:19649191..19653636-chr17:19654131..19659903,8	MCF-7	breast:
9	chr17:19621105..19622742-chr17:19656130..19658211,2	MCF-7	breast:
10	chr17:19654497..19661140-chr17:19661473..19671609,12	MCF-7	breast:
11	chr11:67397884..67398710-chr17:19656962..19657673,2	MCF-7	breast:
12	chr11:67380849..67383590-chr17:19654631..19658826,3	MCF-7	breast:
13	chr17:19656623..19657451-chr17:19665588..19666274,2	MCF-7	breast:
14	chr11:67139722..67141643-chr17:19656038..19657945,2	MCF-7	breast:
15	chr17:19647019..19648897-chr17:19661200..19664189,2	MCF-7	breast:
16	chr17:19641453..19644108-chr17:19654195..19656369,2	MCF-7	breast:
17	chr11:67397006..67400354-chr17:19655005..19658242,3	MCF-7	breast:
18	chr11:67149008..67150613-chr17:19656460..19658061,2	MCF-7	breast:
19	chr17:19622195..19622792-chr17:19656909..19657524,3	MCF-7	breast:
20	chr11:67382088..67384067-chr17:19655991..19658673,2	MCF-7	breast:
21	chr17:19651262..19653097-chr17:19654120..19656277,2	K562	blood:
22	chr11:67405096..67409176-chr17:19654881..19658832,8	MCF-7	breast:
23	chr11:67396737..67399523-chr17:19660165..19662735,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230607	TF binding region
ALDH3A1	TF binding region
ENSG00000230607	CpG island
ALDH3A1	CpG island
ENSG00000262681	chromatin interactions
ENSG00000230607	chromatin interactions
ENSG00000167800	chromatin interactions
ENSG00000175505	chromatin interactions
ENSG00000256514	chromatin interactions
ENSG00000108602	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000180638	chromatin interactions
ENSG00000231793	chromatin interactions

Extended variants
information (count: 290 )
Associated
traits (count: 156 )

Variant overlapped rSNPs/rCNVs (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529533652	chr17:19655486-19655487	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs188731909	chr17:19655532-19655533	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs558463666	chr17:19655535-19655536	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs569385716	chr17:19655587-19655588	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs538236339	chr17:19655616-19655617	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs558233533	chr17:19655619-19655620	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs571500782	chr17:19655696-19655697	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs369039229	chr17:19655706-19655707	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs533808616	chr17:19655707-19655708	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs192305583	chr17:19655787-19655788	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs184457722	chr17:19655791-19655792	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs111751055	chr17:19655800-19655801	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs555830038	chr17:19655827-19655828	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs575778486	chr17:19655852-19655853	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs75041230	chr17:19655854-19655855	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs142694020	chr17:19655887-19655888	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs564762364	chr17:19655937-19655938	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs140742402	chr17:19655953-19655954	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs540543420	chr17:19655985-19655986	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs560844786	chr17:19656018-19656019	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs529470203	chr17:19656083-19656084	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs9901906	chr17:19656093-19656094	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs377361734	chr17:19656100-19656101	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs188869536	chr17:19656133-19656134	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs191638236	chr17:19656143-19656144	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs4925046	chr17:19656202-19656203	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577937620	chr17:19656220-19656221	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs571521620	chr17:19656273-19656274	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs184482464	chr17:19656349-19656350	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs547332733	chr17:19656383-19656384	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs567263010	chr17:19656430-19656431	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs112999408	chr17:19656448-19656449	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs536034977	chr17:19656452-19656453	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs543736528	chr17:19656483-19656484	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs555968834	chr17:19656493-19656494	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs372040791	chr17:19656536-19656537	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs149682264	chr17:19656566-19656567	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs538312611	chr17:19656586-19656587	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs189048799	chr17:19656605-19656606	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs16960384	chr17:19656700-19656701	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs541033287	chr17:19656715-19656716	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs560615668	chr17:19656761-19656762	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs574434660	chr17:19656866-19656867	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs543224701	chr17:19656881-19656882	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs563033734	chr17:19656910-19656911	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs182441704	chr17:19657040-19657041	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs35810868	chr17:19657041-19657042	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs551535515	chr17:19657051-19657052	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs565387055	chr17:19657059-19657060	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs527675245	chr17:19657060-19657061	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:156)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
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
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
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
Lung adenocarcinoma	21935476	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19648800-19656200	Weak transcription	Aorta	Aorta
2	chr17:19648800-19657000	Weak transcription	Spleen	Spleen
3	chr17:19649000-19656400	Weak transcription	Right Atrium	heart
4	chr17:19649200-19656200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr17:19650200-19656800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr17:19650600-19657000	Enhancers	HMEC	breast
7	chr17:19650600-19657600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:19651000-19656200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:19652000-19655800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:19652200-19655800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:19652200-19655800	Weak transcription	Brain Angular Gyrus	brain
12	chr17:19652200-19656000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:19652200-19656000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr17:19652200-19656000	Weak transcription	Osteobl	bone
15	chr17:19652400-19655600	Weak transcription	Adipose Nuclei	Adipose
16	chr17:19652400-19655600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr17:19652400-19655800	Weak transcription	Brain Anterior Caudate	brain
18	chr17:19652400-19655800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr17:19652400-19655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr17:19652400-19656200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr17:19652400-19656400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:19652400-19656600	Weak transcription	Pancreas	Pancrea
23	chr17:19652600-19655600	Weak transcription	Brain Hippocampus Middle	brain
24	chr17:19652600-19655800	Weak transcription	Colonic Mucosa	Colon
25	chr17:19652600-19656000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr17:19652600-19656200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr17:19652600-19656600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr17:19653400-19657400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:19654400-19655800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr17:19654400-19658600	Enhancers	Stomach Mucosa	stomach
31	chr17:19654600-19655800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:19654600-19656000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr17:19654600-19656400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:19654600-19656400	Weak transcription	Lung	lung
35	chr17:19654800-19655800	Weak transcription	HepG2	liver
36	chr17:19654800-19656000	Weak transcription	Gastric	stomach
37	chr17:19654800-19656200	Weak transcription	GM12878-XiMat	blood
38	chr17:19655000-19656000	Enhancers	NHEK	skin
39	chr17:19655200-19657200	Enhancers	Fetal Muscle Trunk	muscle
40	chr17:19655200-19657400	Enhancers	Esophagus	oesophagus
41	chr17:19655200-19657400	Enhancers	HSMM	muscle
42	chr17:19655400-19656200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr17:19655400-19656200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr17:19655400-19656200	Enhancers	Stomach Smooth Muscle	stomach
45	chr17:19655400-19656400	Flanking Active TSS	A549	lung
46	chr17:19655400-19656800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr17:19655400-19657400	Enhancers	Brain Substantia Nigra	brain
48	chr17:19655400-19657400	Enhancers	Duodenum Mucosa	Duodenum
49	chr17:19655400-19657400	Enhancers	Fetal Muscle Leg	muscle
50	chr17:19655400-19657400	Flanking Active TSS	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links