Variant report

Variant	nsv1024943
Chromosome Location	chr5:180108841-180226865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1204)
CpG islands
(count:1285)
Chromatin interactive
region (count:62)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1204 , 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	ATF2	chr5:180144959-180145359	GM12878	blood:	n/a	n/a
2	ATF2	chr5:180212679-180213244	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr5:180212570-180213141	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr5:180145040-180145312	GM12878	blood:	n/a	chr5:180145207-180145218
5	BATF	chr5:180169789-180169977	GM12878	blood:	n/a	n/a
6	BATF	chr5:180145061-180145379	GM12878	blood:	n/a	chr5:180145207-180145218
7	BCL11A	chr5:180145100-180145299	GM12878	blood:	n/a	chr5:180145235-180145244
8	BCL11A	chr5:180145000-180145348	GM12878	blood:	n/a	chr5:180145235-180145244
9	CBX3	chr5:180127492-180127736	K562	blood:	n/a	n/a
10	CBX3	chr5:180198844-180199194	K562	blood:	n/a	n/a
11	CBX3	chr5:180208858-180209504	K562	blood:	n/a	n/a
12	CBX3	chr5:180208965-180209392	K562	blood:	n/a	n/a
13	CBX3	chr5:180198766-180199290	K562	blood:	n/a	n/a
14	CBX3	chr5:180215613-180215981	K562	blood:	n/a	n/a
15	CEBPB	chr5:180131341-180131657	K562	blood:	n/a	n/a
16	CEBPB	chr5:180209005-180209250	K562	blood:	n/a	n/a
17	CEBPB	chr5:180208882-180209430	K562	blood:	n/a	n/a
18	CEBPD	chr5:180208777-180209303	K562	blood:	n/a	n/a
19	CEBPD	chr5:180208780-180209396	K562	blood:	n/a	n/a
20	CEBPD	chr5:180131384-180131803	K562	blood:	n/a	n/a
21	CREB1	chr5:180144917-180145413	GM12878	blood:	n/a	n/a
22	CREB1	chr5:180144836-180145451	GM12878	blood:	n/a	n/a
23	CTCF	chr5:180146300-180146450	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr5:180226280-180226430	RPTEC	kidney:	n/a	n/a
25	CTCF	chr5:180145831-180146022	ProgFib	skin:	n/a	n/a
26	CTCF	chr5:180211620-180211770	HCFaa	heart:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
27	CTCF	chr5:180145880-180146030	WI-38	lung:	n/a	n/a
28	CTCF	chr5:180211640-180211790	AG04449	skin:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
29	CTCF	chr5:180211620-180211770	AG09309	skin:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
30	CTCF	chr5:180211580-180211730	GM12801	blood:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
31	CTCF	chr5:180226300-180226450	HepG2	liver:	n/a	n/a
32	CTCF	chr5:180211565-180211882	ECC-1	luminal epithelium:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
33	CTCF	chr5:180217240-180217390	GM12872	blood:	n/a	chr5:180217245-180217258 chr5:180217242-180217260 chr5:180217338-180217356
34	CTCF	chr5:180145688-180146062	K562	blood:	n/a	n/a
35	CTCF	chr5:180211600-180211750	A549	lung:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
36	CTCF	chr5:180145880-180146030	NHEK	skin:	n/a	n/a
37	CTCF	chr5:180217020-180217170	GM12867	blood:	n/a	n/a
38	CTCF	chr5:180145712-180146044	ECC-1	luminal epithelium:	n/a	n/a
39	CTCF	chr5:180226280-180226430	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr5:180226323-180226445	LNCaP	prostate:	n/a	n/a
41	CTCF	chr5:180145840-180145990	SAEC	small airway:	n/a	n/a
42	CTCF	chr5:180226280-180226430	BE2_C	brain:	n/a	n/a
43	CTCF	chr5:180145801-180146020	GM10248	blood:	n/a	n/a
44	CTCF	chr5:180226340-180226490	GM12870	blood:	n/a	n/a
45	CTCF	chr5:180217260-180217410	HFF-Myc	foreskin:	n/a	chr5:180217338-180217356
46	CTCF	chr5:180110391-180110471	GM12878	blood:	n/a	n/a
47	CTCF	chr5:180216940-180217090	NHEK	skin:	n/a	n/a
48	CTCF	chr5:180211620-180211770	GM12873	blood:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
49	CTCF	chr5:180146238-180146280	GM12892	blood:	n/a	n/a
50	CTCF	chr5:180211555-180211820	GM13977	blood:	n/a	chr5:180211685-180211706 chr5:180211683-180211701

(count:1285 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180167965-180168015	SK-N-SH	brain:	n/a
2	chr5:180113357-180113407	RPTEC	kidney:	n/a
3	chr5:180111966-180112016	T-47D	breast:	n/a
4	chr5:180217700-180217750	SK-N-SH	brain:	n/a
5	chr5:180167965-180168015	SK-N-SH	brain:	n/a
6	chr5:180113357-180113407	RPTEC	kidney:	n/a
7	chr5:180111966-180112016	T-47D	breast:	n/a
8	chr5:180217700-180217750	SK-N-SH	brain:	n/a
9	chr5:180113361-180113411	Hepatocyte	liver:	n/a
10	chr5:180220005-180220055	NHDF-neo	bronchial:	n/a
11	chr5:180166492-180166542	ovcar-3	ovarian:	n/a
12	chr5:180111966-180112016	HMEC	breast:	n/a
13	chr5:180112929-180112979	NT2-D1	testis:	n/a
14	chr5:180166694-180166744	NHBE	bronchial:	n/a
15	chr5:180216985-180217035	CMK	blood:	n/a
16	chr5:180219707-180219757	HEK293	kidney:	embryo
17	chr5:180111966-180112016	GM19239	blood:	n/a
18	chr5:180167132-180167182	GM12891	blood:	n/a
19	chr5:180217700-180217750	T-47D	breast:	n/a
20	chr5:180213189-180213239	BJ	skin:	n/a
21	chr5:180219707-180219757	HCM	heart:	n/a
22	chr5:180213189-180213239	SK-N-SH_RA	brain:	n/a
23	chr5:180219008-180219058	K562	blood:	n/a
24	chr5:180219882-180219932	BJ	skin:	n/a
25	chr5:180166492-180166542	SKMC	muscle:	n/a
26	chr5:180219707-180219757	Hepatocyte	liver:	n/a
27	chr5:180111966-180112016	ECC-1	luminal epithelium:	n/a
28	chr5:180113361-180113411	SK-N-SH_RA	brain:	n/a
29	chr5:180219412-180219462	AG09319	gingival:	n/a
30	chr5:180166694-180166744	ProgFib	skin:	n/a
31	chr5:180116385-180116435	Caco-2	colon:	n/a
32	chr5:180167965-180168015	GM06990	blood:	n/a
33	chr5:180111966-180112016	SK-N-SH	brain:	n/a
34	chr5:180167566-180167616	NT2-D1	testis:	n/a
35	chr5:180219008-180219058	HRE	kidney:	n/a
36	chr5:180166492-180166542	MCF10A-Er-Src	breast:	n/a
37	chr5:180166694-180166744	HUVEC	blood vessel:	n/a
38	chr5:180166694-180166744	HCM	heart:	n/a
39	chr5:180167566-180167616	CMK	blood:	n/a
40	chr5:180113357-180113407	AG10803	skin:	n/a
41	chr5:180220005-180220055	AG09319	gingival:	n/a
42	chr5:180219008-180219058	HCF	heart:	n/a
43	chr5:180111800-180111850	SK-N-MC	brain:	n/a
44	chr5:180219008-180219058	GM19239	blood:	n/a
45	chr5:180167132-180167182	HL-60	blood:	n/a
46	chr5:180167132-180167182	AG04450	lung:	fetal
47	chr5:180217700-180217750	HPAEpiC	pulmonary alveolar:	n/a
48	chr5:180167132-180167182	ProgFib	skin:	n/a
49	chr5:180167724-180167774	RPTEC	kidney:	n/a
50	chr5:180216985-180217035	NH-A	brain:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:180208714..180211702-chr5:180212096..180213803,2	K562	blood:
2	chr5:180224924..180227171-chr5:180287379..180289877,3	MCF-7	breast:
3	chr5:180219008..180221127-chr5:180221660..180224233,2	MCF-7	breast:
4	chr5:180216578..180217657-chr5:180225674..180226614,3	MCF-7	breast:
5	chr5:180226030..180229620-chr5:180255411..180258955,4	K562	blood:
6	chr5:179919075..179921338-chr5:180210769..180213087,2	MCF-7	breast:
7	chr5:180048663..180050730-chr5:180113911..180116171,2	K562	blood:
8	chr5:180154735..180156600-chr5:180159240..180161653,2	MCF-7	breast:
9	chr5:180217067..180219759-chr5:180269419..180271439,2	K562	blood:
10	chr5:180130605..180132994-chr5:180134010..180136773,2	MCF-7	breast:
11	chr5:180172009..180174376-chr5:180240608..180243076,2	MCF-7	breast:
12	chr5:180223525..180226490-chr5:180609242..180611026,2	K562	blood:
13	chr5:180171538..180174150-chr5:180179388..180180987,2	K562	blood:
14	chr5:180211375..180212214-chr5:180226180..180226854,2	MCF-7	breast:
15	chr5:180211185..180212156-chr5:180225940..180226892,9	MCF-7	breast:
16	chr5:180210073..180212750-chr5:180649135..180651698,2	MCF-7	breast:
17	chr5:180212092..180214294-chr5:180453988..180456472,2	K562	blood:
18	chr5:180222666..180225025-chr5:180609526..180611478,2	K562	blood:
19	chr5:180171538..180174150-chr5:180179388..180180987,2	K562	blood:
20	chr5:180202113..180204208-chr5:180208493..180210882,2	K562	blood:
21	chr5:180217057..180217623-chr5:180228458..180229188,2	MCF-7	breast:
22	chr5:180210430..180214631-chr5:180286463..180290673,6	MCF-7	breast:
23	chr5:180208714..180211702-chr5:180212096..180213803,2	K562	blood:
24	chr5:180147687..180149481-chr5:180151717..180153867,2	K562	blood:
25	chr5:180136617..180138276-chr5:180153652..180155749,2	K562	blood:
26	chr5:180168390..180170515-chr5:180204872..180207367,2	K562	blood:
27	chr5:180211281..180211887-chr5:180586366..180586939,2	MCF-7	breast:
28	chr5:180225360..180227126-chr5:180650048..180652695,2	MCF-7	breast:
29	chr5:180170663..180173512-chr5:180175093..180176860,2	K562	blood:
30	chr5:180208714..180211260-chr5:180212096..180214924,3	K562	blood:
31	chr5:180113673..180116367-chr5:180119581..180121156,3	K562	blood:
32	chr5:180130605..180132994-chr5:180134010..180136773,2	MCF-7	breast:
33	chr5:180202113..180204208-chr5:180208493..180210882,2	K562	blood:
34	chr5:180216327..180219256-chr5:180485099..180486798,2	K562	blood:
35	chr5:180217957..180220948-chr5:180429295..180431970,2	K562	blood:
36	chr5:180207628..180210924-chr5:180228309..180230947,5	MCF-7	breast:
37	chr5:180147687..180149481-chr5:180151717..180153867,2	K562	blood:
38	chr5:180168086..180169925-chr5:180190599..180192805,2	K562	blood:
39	chr5:180211375..180212214-chr5:180226180..180226854,2	MCF-7	breast:
40	chr5:180207548..180210211-chr5:180589188..180591545,3	K562	blood:
41	chr5:180114639..180117305-chr5:180118582..180121501,2	MCF-7	breast:
42	chr5:180170663..180173512-chr5:180175093..180176860,2	K562	blood:
43	chr5:180209019..180210957-chr5:180453882..180456380,2	K562	blood:
44	chr5:180037911..180038640-chr5:180145288..180145999,2	MCF-7	breast:
45	chr5:180153993..180156519-chr5:180159947..180161759,2	K562	blood:
46	chr5:180158275..180159905-chr5:180163258..180165205,2	K562	blood:
47	chr5:180219008..180221127-chr5:180221660..180224233,2	MCF-7	breast:
48	chr5:180097643..180098351-chr5:180145367..180146387,3	MCF-7	breast:
49	chr5:180153993..180156519-chr5:180159947..180161759,2	K562	blood:
50	chr5:180168390..180170515-chr5:180204872..180207367,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTNL8-8	chr5:180193918-180195284	ucscGeneNc_uc003mmk_2
2	lnc-CNOT6-3	chr5:180112648-180113546	NONHSAT105706
3	lnc-OR2Y1-1	chr5:180155280-180155484	expReg_chr5_11028_-
4	lnc-BTNL8-8	chr5:180190563-180190835	ucscGeneNc_uc003mmk_2
5	lnc-CNOT6-3	chr5:180111765-180111906	NONHSAT105706
6	lnc-ZFP62-3	chr5:180222406-180222875	NONHSAT105809
7	lnc-BTNL8-8	chr5:180192279-180192466	ucscGeneNc_uc003mmk_2
8	lnc-CNOT6-3	chr5:180111766-180111906	XLOC_004682
9	lnc-CNOT6-3	chr5:180112649-180113546	XLOC_004682
10	lnc-ZFP62-3	chr5:180222430-180222875	NONHSAT105810
11	lnc-OR2Y1-2	chr5:180189565-180191201	ucscGeneNc_uc003mmj_1

No data

Variant related genes	Relation type
RNU1-17P	TF binding region
ENSG00000260841	TF binding region
ENSG00000248717	TF binding region
OR2Y1	TF binding region
OR2AI1P	TF binding region
RNU1-17P	CpG island
ENSG00000260841	CpG island
ENSG00000248717	CpG island
OR2Y1	CpG island
OR2AI1P	CpG island
ENSG00000146063	chromatin interactions
ENSG00000236791	chromatin interactions
ENSG00000260841	chromatin interactions
ENSG00000196670	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000245060	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000199892	chromatin interactions

Extended variants
information (count: 3284 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:3284 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139090022	chr5:180108854-180108855	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs149891446	chr5:180108855-180108856	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs146417537	chr5:180108884-180108885	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139793050	chr5:180108894-180108895	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs550250306	chr5:180108907-180108908	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs4305613	chr5:180108931-180108932	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144248146	chr5:180108995-180108996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535666351	chr5:180108996-180108997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376551267	chr5:180109000-180109001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551865443	chr5:180109043-180109044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555572119	chr5:180109085-180109086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114128636	chr5:180109097-180109098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535034337	chr5:180109098-180109099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558161028	chr5:180109100-180109101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186797740	chr5:180109108-180109109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545437244	chr5:180109109-180109110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562626595	chr5:180109121-180109122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10059547	chr5:180109162-180109163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191806916	chr5:180109202-180109203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146741288	chr5:180109221-180109222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527473039	chr5:180109257-180109258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112322931	chr5:180109294-180109295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183221161	chr5:180109316-180109317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114693848	chr5:180109331-180109332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535365575	chr5:180109340-180109341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371254270	chr5:180109364-180109365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143545318	chr5:180109379-180109380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554967032	chr5:180109382-180109383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571675432	chr5:180109385-180109386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534424643	chr5:180109411-180109412	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570015208	chr5:180109421-180109422	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529371897	chr5:180109426-180109427	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549064996	chr5:180109453-180109454	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565975545	chr5:180109458-180109459	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534850523	chr5:180109459-180109460	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557387408	chr5:180109519-180109520	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116866846	chr5:180109526-180109527	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186431615	chr5:180109529-180109530	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117139313	chr5:180109572-180109573	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576085258	chr5:180109586-180109587	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541986929	chr5:180109587-180109588	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577312165	chr5:180109609-180109610	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs151075616	chr5:180109635-180109636	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs140978297	chr5:180109636-180109637	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs10042049	chr5:180109638-180109639	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533108645	chr5:180109639-180109640	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs543677506	chr5:180109742-180109743	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs189994395	chr5:180109751-180109752	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs529244126	chr5:180109805-180109806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549077279	chr5:180109807-180109808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Schizophrenia	23813976	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	17440070	CNVD
Schizophrenia	21346763	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:1324 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180107400-180109600	Weak transcription	Thymus	Thymus
2	chr5:180108800-180109600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:180109200-180109400	Enhancers	Spleen	Spleen
4	chr5:180109200-180113600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr5:180109200-180115800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr5:180109400-180109600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr5:180109400-180109800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr5:180109600-180110600	Enhancers	Primary T cells from cord blood	blood
9	chr5:180109600-180112800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr5:180109600-180115400	Enhancers	Fetal Thymus	thymus
11	chr5:180109600-180115400	Enhancers	Thymus	Thymus
12	chr5:180109600-180115600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr5:180109600-180116200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:180109800-180111200	Enhancers	HepG2	liver
15	chr5:180109800-180113000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:180109800-180116000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr5:180110000-180110200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:180110000-180110800	Enhancers	Dnd41	blood
19	chr5:180110000-180113600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr5:180110200-180110800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:180110200-180111000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:180110400-180110800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:180110600-180111000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:180110600-180111000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr5:180110800-180112200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:180110800-180113800	Weak transcription	Dnd41	blood
27	chr5:180110800-180116000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:180111000-180111400	Enhancers	Primary T cells from cord blood	blood
29	chr5:180111000-180115400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:180111200-180111600	Bivalent Enhancer	HepG2	liver
31	chr5:180111400-180111600	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr5:180111400-180111800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:180111600-180111800	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr5:180111600-180112400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:180111600-180115600	Enhancers	Primary T cells from cord blood	blood
36	chr5:180111800-180112000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:180111800-180112000	Bivalent Enhancer	HepG2	liver
38	chr5:180111800-180114600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:180112200-180119400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:180112400-180114000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:180112400-180114800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr5:180112800-180114000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr5:180113000-180114000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr5:180113600-180114600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr5:180113600-180114600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr5:180113800-180115000	Enhancers	Dnd41	blood
47	chr5:180114000-180114400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:180114000-180115400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr5:180114000-180116200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr5:180114400-180115400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

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