Variant report

Variant	nsv1023078
Chromosome Location	chr5:180157191-180216254
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	chr5:180212679-180213244	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr5:180212570-180213141	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr5:180169789-180169977	GM12878	blood:	n/a	n/a
4	CBX3	chr5:180215613-180215981	K562	blood:	n/a	n/a
5	CBX3	chr5:180198844-180199194	K562	blood:	n/a	n/a
6	CBX3	chr5:180198766-180199290	K562	blood:	n/a	n/a
7	CBX3	chr5:180208858-180209504	K562	blood:	n/a	n/a
8	CBX3	chr5:180208965-180209392	K562	blood:	n/a	n/a
9	CEBPB	chr5:180209005-180209250	K562	blood:	n/a	n/a
10	CEBPB	chr5:180208882-180209430	K562	blood:	n/a	n/a
11	CEBPD	chr5:180208780-180209396	K562	blood:	n/a	n/a
12	CEBPD	chr5:180208777-180209303	K562	blood:	n/a	n/a
13	CTCF	chr5:180214160-180214310	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr5:180214040-180214190	HPF	lung:	n/a	n/a
15	CTCF	chr5:180211640-180211790	GM12867	blood:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
16	CTCF	chr5:180211572-180211814	Kidney_OC	kidney:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
17	CTCF	chr5:180214360-180214510	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr5:180211565-180211882	ECC-1	luminal epithelium:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
19	CTCF	chr5:180211547-180211829	Spleen_OC	spleen:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
20	CTCF	chr5:180211600-180211750	GM12874	blood:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
21	CTCF	chr5:180194365-180194384	GM10248	blood:	n/a	n/a
22	CTCF	chr5:180211540-180211690	HAc	cerebellar:	n/a	n/a
23	CTCF	chr5:180211542-180211821	A549	lung:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
24	CTCF	chr5:180211580-180211730	HRPEpiC	eye:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
25	CTCF	chr5:180211571-180211813	Hela-S3	cervix:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
26	CTCF	chr5:180211600-180211750	GM06990	blood:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
27	CTCF	chr5:180211574-180211809	MCF-7	breast:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
28	CTCF	chr5:180212400-180212550	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr5:180212320-180212470	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr5:180211580-180211730	HEK293	kidney:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
31	CTCF	chr5:180211620-180211770	GM06990	blood:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
32	CTCF	chr5:180211569-180211810	K562	blood:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
33	CTCF	chr5:180211620-180211770	HBMEC	blood vessel:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
34	CTCF	chr5:180214815-180214885	Medullo	brain:	n/a	n/a
35	CTCF	chr5:180211564-180211813	MCF-7	breast:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
36	CTCF	chr5:180211580-180211730	HFF-Myc	foreskin:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
37	CTCF	chr5:180211497-180211806	K562	blood:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
38	CTCF	chr5:180211576-180211789	GM20000	blood:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
39	CTCF	chr5:180214153-180214433	H1-hESC	embryonic stem cell:	n/a	chr5:180214351-180214360
40	CTCF	chr5:180211580-180211730	GM12868	blood:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
41	CTCF	chr5:180211600-180211750	HRE	kidney:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
42	CTCF	chr5:180211555-180211834	HUVEC	blood vessel:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
43	CTCF	chr5:180211600-180211750	HUVEC	blood vessel:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
44	CTCF	chr5:180211565-180211811	GM19239	blood:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
45	CTCF	chr5:180211600-180211750	HepG2	liver:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
46	CTCF	chr5:180211640-180211790	GM12872	blood:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
47	CTCF	chr5:180211600-180211750	GM12868	blood:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
48	CTCF	chr5:180209860-180210010	HepG2	liver:	n/a	n/a
49	CTCF	chr5:180214860-180215010	AG04449	skin:	n/a	n/a
50	CTCF	chr5:180211620-180211770	HEEpiC	esophagus:	n/a	chr5:180211685-180211706 chr5:180211683-180211701

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180167566-180167616	ovcar-3	ovarian:	n/a
2	chr5:180166492-180166542	AG09309	skin:	n/a
3	chr5:180167566-180167616	ovcar-3	ovarian:	n/a
4	chr5:180166492-180166542	AG09309	skin:	n/a
5	chr5:180213189-180213239	HUVEC	blood vessel:	n/a
6	chr5:180167132-180167182	NH-A	brain:	n/a
7	chr5:180167132-180167182	HRPEpiC	eye:	n/a
8	chr5:180166492-180166542	ECC-1	luminal epithelium:	n/a
9	chr5:180167566-180167616	H1-hESC	embryonic stem cell:	embryo
10	chr5:180213189-180213239	GM12891	blood:	n/a
11	chr5:180167724-180167774	HCT-116	colon:	n/a
12	chr5:180167724-180167774	MCF-7	breast:	n/a
13	chr5:180167965-180168015	GM12891	blood:	n/a
14	chr5:180166492-180166542	CMK	blood:	n/a
15	chr5:180167724-180167774	T-47D	breast:	n/a
16	chr5:180213189-180213239	GM19239	blood:	n/a
17	chr5:180166492-180166542	HPAEpiC	pulmonary alveolar:	n/a
18	chr5:180213189-180213239	ECC-1	luminal epithelium:	n/a
19	chr5:180167724-180167774	LNCaP	prostate:	n/a
20	chr5:180166492-180166542	NH-A	brain:	n/a
21	chr5:180166694-180166744	GM12878	blood:	n/a
22	chr5:180167724-180167774	ECC-1	luminal epithelium:	n/a
23	chr5:180166492-180166542	HNPCEpiC	eye:	n/a
24	chr5:180213189-180213239	HRE	kidney:	n/a
25	chr5:180167566-180167616	PrEC	prostate:	n/a
26	chr5:180166492-180166542	HUVEC	blood vessel:	n/a
27	chr5:180167724-180167774	AoSMC	blood vessel:	n/a
28	chr5:180167724-180167774	Caco-2	colon:	n/a
29	chr5:180167132-180167182	SK-N-MC	brain:	n/a
30	chr5:180166694-180166744	HCT-116	colon:	n/a
31	chr5:180166694-180166744	GM19239	blood:	n/a
32	chr5:180167724-180167774	AG04449	skin:	fetal
33	chr5:180167132-180167182	HUVEC	blood vessel:	n/a
34	chr5:180167566-180167616	HAEpiC	amniotic membrane:	n/a
35	chr5:180167132-180167182	PrEC	prostate:	n/a
36	chr5:180166492-180166542	PFSK-1	brain:	n/a
37	chr5:180167132-180167182	AG04449	skin:	fetal
38	chr5:180167566-180167616	SK-N-SH	brain:	n/a
39	chr5:180166492-180166542	AG10803	skin:	n/a
40	chr5:180167965-180168015	SK-N-SH	brain:	n/a
41	chr5:180166694-180166744	Jurkat	blood:	n/a
42	chr5:180213189-180213239	Hepatocyte	liver:	n/a
43	chr5:180167132-180167182	AG04450	lung:	fetal
44	chr5:180167724-180167774	GM19239	blood:	n/a
45	chr5:180167132-180167182	SK-N-SH_RA	brain:	n/a
46	chr5:180167965-180168015	GM06990	blood:	n/a
47	chr5:180213189-180213239	Jurkat	blood:	n/a
48	chr5:180167724-180167774	Jurkat	blood:	n/a
49	chr5:180167724-180167774	H1-hESC	embryonic stem cell:	embryo
50	chr5:180166492-180166542	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:180172009..180174376-chr5:180240608..180243076,2	MCF-7	breast:
2	chr5:180208714..180211260-chr5:180212096..180214924,3	K562	blood:
3	chr5:180212092..180214294-chr5:180453988..180456472,2	K562	blood:
4	chr5:180209019..180210957-chr5:180453882..180456380,2	K562	blood:
5	chr5:180170663..180173512-chr5:180175093..180176860,2	K562	blood:
6	chr5:180168086..180169925-chr5:180190599..180192805,2	K562	blood:
7	chr5:180158275..180159905-chr5:180163258..180165205,2	K562	blood:
8	chr5:180202321..180205166-chr5:180643152..180645917,2	K562	blood:
9	chr5:180202113..180204208-chr5:180208493..180210882,2	K562	blood:
10	chr5:179919075..179921338-chr5:180210769..180213087,2	MCF-7	breast:
11	chr5:180208714..180211702-chr5:180212096..180213803,2	K562	blood:
12	chr5:180153993..180156519-chr5:180159947..180161759,2	K562	blood:
13	chr5:180211185..180212156-chr5:180225940..180226892,9	MCF-7	breast:
14	chr5:180207628..180210924-chr5:180228309..180230947,5	MCF-7	breast:
15	chr5:180158275..180159905-chr5:180163258..180165205,2	K562	blood:
16	chr5:180210073..180212750-chr5:180649135..180651698,2	MCF-7	breast:
17	chr5:180208714..180211702-chr5:180212096..180213803,2	K562	blood:
18	chr5:180210430..180214631-chr5:180286463..180290673,6	MCF-7	breast:
19	chr5:180211640..180213961-chr5:180214094..180219248,5	K562	blood:
20	chr5:180211375..180212214-chr5:180226180..180226854,2	MCF-7	breast:
21	chr5:180154735..180156600-chr5:180159240..180161653,2	MCF-7	breast:
22	chr5:180168086..180169925-chr5:180190599..180192805,2	K562	blood:
23	chr5:180211281..180211887-chr5:180586366..180586939,2	MCF-7	breast:
24	chr5:180171538..180174150-chr5:180179388..180180987,2	K562	blood:
25	chr5:180171538..180174150-chr5:180179388..180180987,2	K562	blood:
26	chr5:180202113..180204208-chr5:180208493..180210882,2	K562	blood:
27	chr5:180208930..180211085-chr5:180226767..180229407,2	K562	blood:
28	chr5:180207548..180210211-chr5:180589188..180591545,3	K562	blood:
29	chr5:180170663..180173512-chr5:180175093..180176860,2	K562	blood:
30	chr5:180168390..180170515-chr5:180204872..180207367,2	K562	blood:
31	chr5:180168390..180170515-chr5:180204872..180207367,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR2Y1-2	chr5:180189565-180191201	ucscGeneNc_uc003mmj_1
2	lnc-BTNL8-8	chr5:180192279-180192466	ucscGeneNc_uc003mmk_2
3	lnc-BTNL8-8	chr5:180190563-180190835	ucscGeneNc_uc003mmk_2
4	lnc-BTNL8-8	chr5:180193918-180195284	ucscGeneNc_uc003mmk_2

Variant related genes	Relation type
ENSG00000260841	TF binding region
OR2Y1	TF binding region
ENSG00000260841	CpG island
OR2Y1	CpG island
ENSG00000131446	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000260841	chromatin interactions
ENSG00000196670	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000199892	chromatin interactions

Extended variants
information (count: 1259 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1259 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150770127	chr5:180159248-180159249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182027781	chr5:180159260-180159261	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs73351137	chr5:180159280-180159281	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186160848	chr5:180159281-180159282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201631071	chr5:180159290-180159291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570157754	chr5:180159297-180159298	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531574986	chr5:180159336-180159337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565759775	chr5:180159376-180159377	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548387286	chr5:180159392-180159393	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190362620	chr5:180159437-180159438	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534561815	chr5:180159477-180159478	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138014422	chr5:180159502-180159503	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149590131	chr5:180159533-180159534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181770599	chr5:180159542-180159543	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557269644	chr5:180159648-180159649	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574115736	chr5:180159671-180159672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs17080542	chr5:180159694-180159695	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536150822	chr5:180159695-180159696	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs17080543	chr5:180159775-180159776	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573240052	chr5:180159778-180159779	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs373008565	chr5:180159824-180159825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs116476244	chr5:180159827-180159828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs569709618	chr5:180159844-180159845	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs57844424	chr5:180159901-180159902	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531133920	chr5:180159904-180159905	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs60038932	chr5:180159914-180159915	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561233652	chr5:180159929-180159930	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528897863	chr5:180159934-180159935	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548961313	chr5:180159936-180159937	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115495556	chr5:180159947-180159948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528153740	chr5:180160006-180160007	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144272649	chr5:180160034-180160035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs571493684	chr5:180160049-180160050	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537226116	chr5:180160085-180160086	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs116128569	chr5:180160092-180160093	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567561621	chr5:180160095-180160096	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553747830	chr5:180160096-180160097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536251429	chr5:180160114-180160115	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553288402	chr5:180160134-180160135	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs377228547	chr5:180160147-180160148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs10059306	chr5:180160186-180160187	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191205802	chr5:180160227-180160228	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73815107	chr5:180160277-180160278	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs539524294	chr5:180160331-180160332	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570982181	chr5:180160335-180160336	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs182533640	chr5:180160351-180160352	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575724689	chr5:180160353-180160354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs143572563	chr5:180160359-180160360	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs373623765	chr5:180160365-180160366	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs561295021	chr5:180160394-180160395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	17440070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180165200-180170800	Weak transcription	Right Atrium	heart
2	chr5:180166600-180166800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:180166600-180167600	Enhancers	HSMMtube	muscle
4	chr5:180169800-180170000	Bivalent Enhancer	K562	blood
5	chr5:180196600-180197200	Enhancers	HepG2	liver
6	chr5:180202000-180202800	Enhancers	K562	blood
7	chr5:180202800-180203000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:180202800-180206000	Weak transcription	K562	blood
9	chr5:180203000-180212400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:180204400-180215400	Weak transcription	Primary B cells from cord blood	blood
11	chr5:180205200-180209800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr5:180205600-180211800	Weak transcription	Liver	Liver
13	chr5:180205800-180212400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:180206000-180208400	Enhancers	K562	blood
15	chr5:180206000-180212200	Weak transcription	Lung	lung
16	chr5:180206200-180209800	Weak transcription	Primary T cells from cord blood	blood
17	chr5:180206600-180212400	Weak transcription	Aorta	Aorta
18	chr5:180206800-180210800	Weak transcription	Esophagus	oesophagus
19	chr5:180207000-180207200	Enhancers	Right Atrium	heart
20	chr5:180207000-180214600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:180207200-180212200	Weak transcription	Right Atrium	heart
22	chr5:180207200-180212400	Weak transcription	Fetal Intestine Large	intestine
23	chr5:180207800-180210800	Weak transcription	Placenta	Placenta
24	chr5:180208000-180212000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:180208000-180212400	Weak transcription	Psoas Muscle	Psoas
26	chr5:180208400-180208600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:180208400-180210000	Flanking Active TSS	K562	blood
28	chr5:180209200-180214000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:180209200-180214800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:180209400-180209800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr5:180209400-180209800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr5:180209400-180210200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr5:180209600-180210000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr5:180209600-180210000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr5:180209600-180210200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr5:180209600-180210400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr5:180209800-180210400	Enhancers	Primary T cells from cord blood	blood
38	chr5:180209800-180211000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr5:180209800-180212200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr5:180209800-180213200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr5:180210000-180210200	Enhancers	Colon Smooth Muscle	Colon
42	chr5:180210000-180210400	Enhancers	Thymus	Thymus
43	chr5:180210000-180211200	Enhancers	K562	blood
44	chr5:180210000-180214000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr5:180210000-180217800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:180210200-180210400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:180210200-180210600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr5:180210200-180211200	Enhancers	Fetal Thymus	thymus
49	chr5:180210200-180212400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:180210200-180212400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

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