Variant report

Variant	nsv515962
Chromosome Location	chr1:153752139-153773429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1125)
CpG islands
(count:915)
Chromatin interactive
region (count:107)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1125 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:153769734-153769973	HepG2	liver:	n/a	n/a
2	ATF1	chr1:153763551-153763869	K562	blood:	n/a	n/a
3	ATF2	chr1:153763093-153763982	GM12878	blood:	n/a	n/a
4	ATF2	chr1:153763224-153764382	GM12878	blood:	n/a	n/a
5	ATF3	chr1:153755760-153756314	A549	lung:	n/a	chr1:153756249-153756263
6	BACH1	chr1:153755777-153756356	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr1:153755981-153756186	K562	blood:	n/a	n/a
8	BCL11A	chr1:153763410-153763979	GM12878	blood:	n/a	n/a
9	BCL3	chr1:153755708-153756642	A549	lung:	n/a	chr1:153756003-153756012 chr1:153755958-153755971
10	BCLAF1	chr1:153763158-153764068	GM12878	blood:	n/a	n/a
11	BCLAF1	chr1:153755585-153756369	GM12878	blood:	n/a	chr1:153756003-153756012 chr1:153755958-153755971
12	BHLHE40	chr1:153769726-153769964	K562	blood:	n/a	n/a
13	BHLHE40	chr1:153755787-153756393	K562	blood:	n/a	chr1:153756218-153756234
14	BHLHE40	chr1:153755762-153756538	GM12878	blood:	n/a	chr1:153756218-153756234
15	BHLHE40	chr1:153763487-153764025	GM12878	blood:	n/a	n/a
16	BRCA1	chr1:153769709-153770021	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr1:153769609-153769934	HepG2	liver:	n/a	n/a
18	BRCA1	chr1:153768067-153768069	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr1:153755716-153756345	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr1:153756161-153756220	HepG2	liver:	n/a	n/a
21	CBX3	chr1:153755655-153756422	K562	blood:	n/a	n/a
22	CCNT2	chr1:153752537-153752779	K562	blood:	n/a	n/a
23	CCNT2	chr1:153755896-153756470	K562	blood:	n/a	chr1:153755995-153756004 chr1:153756307-153756316
24	CEBPB	chr1:153755580-153756404	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr1:153752573-153752684	K562	blood:	n/a	n/a
26	CEBPB	chr1:153763176-153764128	GM12878	blood:	n/a	chr1:153763717-153763728
27	CEBPB	chr1:153763512-153763904	Hela-S3	cervix:	n/a	chr1:153763717-153763728
28	CEBPB	chr1:153763597-153763740	H1-hESC	embryonic stem cell:	n/a	chr1:153763717-153763728
29	CEBPB	chr1:153763514-153763887	K562	blood:	n/a	chr1:153763717-153763728
30	CEBPB	chr1:153763427-153763916	K562	blood:	n/a	chr1:153763717-153763728
31	CEBPB	chr1:153763545-153763884	HepG2	liver:	n/a	chr1:153763717-153763728
32	CEBPB	chr1:153763468-153763916	K562	blood:	n/a	chr1:153763717-153763728
33	CEBPB	chr1:153756107-153756224	HepG2	liver:	n/a	n/a
34	CEBPB	chr1:153763527-153763928	GM12878	blood:	n/a	chr1:153763717-153763728
35	CEBPB	chr1:153762781-153763970	IMR90	lung:	n/a	chr1:153763717-153763728
36	CEBPB	chr1:153769750-153770037	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr1:153763562-153763876	A549	lung:	n/a	chr1:153763717-153763728
38	CEBPB	chr1:153769835-153769838	K562	blood:	n/a	n/a
39	CEBPD	chr1:153756067-153756404	HepG2	liver:	n/a	n/a
40	CEBPD	chr1:153755754-153756426	K562	blood:	n/a	n/a
41	CEBPD	chr1:153755977-153756422	HepG2	liver:	n/a	n/a
42	CHD1	chr1:153755659-153756467	GM12878	blood:	n/a	chr1:153756393-153756403 chr1:153756100-153756110
43	CHD1	chr1:153763185-153764518	GM12878	blood:	n/a	n/a
44	CHD2	chr1:153755627-153756433	GM12878	blood:	n/a	chr1:153756393-153756403 chr1:153756100-153756110
45	CHD2	chr1:153769692-153769892	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr1:153755917-153756173	H1-hESC	embryonic stem cell:	n/a	chr1:153756100-153756110
47	CHD2	chr1:153755922-153756214	K562	blood:	n/a	chr1:153756100-153756110
48	CHD2	chr1:153755839-153756252	HepG2	liver:	n/a	chr1:153756100-153756110
49	CHD2	chr1:153755756-153756455	Hela-S3	cervix:	n/a	chr1:153756393-153756403 chr1:153756100-153756110
50	CREB1	chr1:153755756-153756441	H1-hESC	embryonic stem cell:	n/a	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:153762201-153762251	NHBE	bronchial:	n/a
2	chr1:153762244-153762294	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:153756109-153756159	AG10803	skin:	n/a
4	chr1:153762434-153762484	PFSK-1	brain:	n/a
5	chr1:153762201-153762251	GM06990	blood:	n/a
6	chr1:153756397-153756447	HRPEpiC	eye:	n/a
7	chr1:153756397-153756447	PrEC	prostate:	n/a
8	chr1:153756397-153756447	HUVEC	blood vessel:	n/a
9	chr1:153762224-153762274	HL-60	blood:	n/a
10	chr1:153759695-153759745	HepG2	liver:	n/a
11	chr1:153762244-153762294	SK-N-SH_RA	brain:	n/a
12	chr1:153762564-153762614	NH-A	brain:	n/a
13	chr1:153756334-153756384	HepG2	liver:	n/a
14	chr1:153762434-153762484	MCF10A-Er-Src	breast:	n/a
15	chr1:153762224-153762274	HRPEpiC	eye:	n/a
16	chr1:153756168-153756218	AoSMC	blood vessel:	n/a
17	chr1:153756119-153756169	CMK	blood:	n/a
18	chr1:153755905-153755955	U87	brain:	n/a
19	chr1:153762201-153762251	GM12892	blood:	n/a
20	chr1:153762372-153762422	ProgFib	skin:	n/a
21	chr1:153759695-153759745	CMK	blood:	n/a
22	chr1:153762372-153762422	LNCaP	prostate:	n/a
23	chr1:153756334-153756384	HMEC	breast:	n/a
24	chr1:153756397-153756447	GM12892	blood:	n/a
25	chr1:153755905-153755955	GM12878	blood:	n/a
26	chr1:153752529-153752579	NB4	blood:	n/a
27	chr1:153756397-153756447	Hela-S3	cervix:	n/a
28	chr1:153756397-153756447	ovcar-3	ovarian:	n/a
29	chr1:153765596-153765646	HRPEpiC	eye:	n/a
30	chr1:153755905-153755955	HAEpiC	amniotic membrane:	n/a
31	chr1:153756168-153756218	GM12891	blood:	n/a
32	chr1:153755905-153755955	AoSMC	blood vessel:	n/a
33	chr1:153756119-153756169	HIPEpiC	eye:	n/a
34	chr1:153762201-153762251	SK-N-SH	brain:	n/a
35	chr1:153752529-153752579	HNPCEpiC	eye:	n/a
36	chr1:153756397-153756447	SAEC	small airway:	n/a
37	chr1:153756397-153756447	HNPCEpiC	eye:	n/a
38	chr1:153756119-153756169	BE2_C	brain:	n/a
39	chr1:153755905-153755955	HCT-116	colon:	n/a
40	chr1:153762434-153762484	HEEpiC	esophagus:	n/a
41	chr1:153762224-153762274	HUVEC	blood vessel:	n/a
42	chr1:153755905-153755955	HL-60	blood:	n/a
43	chr1:153762564-153762614	ECC-1	luminal epithelium:	n/a
44	chr1:153756109-153756159	T-47D	breast:	n/a
45	chr1:153765596-153765646	NHDF-neo	bronchial:	n/a
46	chr1:153755905-153755955	RPTEC	kidney:	n/a
47	chr1:153762372-153762422	Hepatocyte	liver:	n/a
48	chr1:153762434-153762484	NH-A	brain:	n/a
49	chr1:153762564-153762614	H1-hESC	embryonic stem cell:	embryo
50	chr1:153752529-153752579	MCF-7	breast:	n/a

(count:107 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:153754517..153758077-chr1:153759140..153763614,7	K562	blood:
2	chr1:153752474..153754090-chr1:153754939..153756704,2	K562	blood:
3	chr1:153752474..153754090-chr1:153754939..153756704,2	K562	blood:
4	chr1:153758281..153760333-chr1:153763925..153766016,2	K562	blood:
5	chr1:153763463..153765240-chr1:153962942..153964814,3	K562	blood:
6	chr1:153649935..153650729-chr1:153769678..153770330,2	MCF-7	breast:
7	chr1:152019890..152020563-chr1:153755779..153756680,2	Hela-S3	cervix:
8	chr1:153768289..153770739-chr1:153938649..153941586,3	MCF-7	breast:
9	chr1:153753529..153755958-chr1:153955691..153957814,2	MCF-7	breast:
10	chr1:153750360..153753016-chr1:154300040..154302261,2	K562	blood:
11	chr1:153763846..153765824-chr1:153774129..153777112,2	MCF-7	breast:
12	chr1:153754767..153757763-chr1:153916863..153919797,5	MCF-7	breast:
13	chr1:153767682..153770597-chr1:153957509..153960455,2	K562	blood:
14	chr1:153756292..153758003-chr1:153762929..153766093,3	MCF-7	breast:
15	chr1:153755790..153756651-chr17:56708942..56709615,2	HCT-116	colon:
16	chr1:153762146..153764067-chr1:153775789..153777743,2	K562	blood:
17	chr1:153764439..153766738-chr1:153770528..153772998,3	K562	blood:
18	chr1:153755492..153756298-chr17:79868575..79869130,2	Hela-S3	cervix:
19	chr1:153631452..153634025-chr1:153753430..153756268,2	MCF-7	breast:
20	chr1:153767840..153772262-chr1:153949074..153953547,7	MCF-7	breast:
21	chr1:153755773..153757847-chr1:153948754..153951172,2	K562	blood:
22	chr1:153753381..153755044-chr1:153796141..153797868,2	MCF-7	breast:
23	chr1:153760687..153764431-chr1:153764478..153768131,3	K562	blood:
24	chr1:153754842..153757396-chr1:153894711..153897128,3	K562	blood:
25	chr1:153755765..153756406-chr1:154155175..154155686,2	Hela-S3	cervix:
26	chr1:153769305..153770313-chr1:153958512..153959701,6	MCF-7	breast:
27	chr1:153761470..153763413-chr1:153768542..153770993,2	MCF-7	breast:
28	chr1:153752145..153754136-chr1:153769576..153771795,3	MCF-7	breast:
29	chr1:153752949..153756283-chr1:153940484..153942451,4	MCF-7	breast:
30	chr1:153766040..153768161-chr1:153768242..153770371,2	K562	blood:
31	chr1:153756292..153758003-chr1:153762929..153766093,3	MCF-7	breast:
32	chr1:153755801..153756363-chr3:23986450..23987372,2	Hela-S3	cervix:
33	chr1:153754814..153757464-chr1:153760573..153762227,2	MCF-7	breast:
34	chr1:153755524..153756377-chr3:49058577..49059432,2	Hela-S3	cervix:
35	chr1:153755894..153756700-chr9:103188516..103189454,2	Hela-S3	cervix:
36	chr1:153740288..153742265-chr1:153754245..153756102,2	K562	blood:
37	chr1:153769239..153773675-chr1:153774397..153779052,9	K562	blood:
38	chr1:153763462..153765240-chr1:153961816..153964814,2	K562	blood:
39	chr1:153768238..153771425-chr1:153928946..153932544,3	K562	blood:
40	chr1:153756018..153757611-chr1:153930305..153933106,2	K562	blood:
41	chr1:153754741..153757518-chr1:153930305..153932250,2	K562	blood:
42	chr1:153769411..153770488-chr1:153918824..153919616,5	MCF-7	breast:
43	chr1:153772217..153774028-chr1:153949824..153952504,2	K562	blood:
44	chr1:153765340..153768610-chr1:153963132..153965319,3	K562	blood:
45	chr1:153754951..153758760-chr1:153962914..153965796,4	K562	blood:
46	chr1:153761143..153764229-chr1:153764516..153767826,3	MCF-7	breast:
47	chr1:153771018..153773380-chr1:153956396..153960280,3	MCF-7	breast:
48	chr1:153754545..153757490-chr1:153768363..153770074,2	MCF-7	breast:
49	chr1:153768238..153769957-chr1:153929788..153932544,2	K562	blood:
50	chr1:153770522..153773275-chr1:153961890..153963520,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231827	TF binding region
ENSG00000207039	TF binding region
ENSG00000231827	CpG island
ENSG00000207039	CpG island
ENSG00000163191	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000143578	chromatin interactions
ENSG00000160741	chromatin interactions
ENSG00000143549	chromatin interactions
ENSG00000143614	chromatin interactions
ENSG00000231827	chromatin interactions
ENSG00000143545	chromatin interactions
ENSG00000174738	chromatin interactions
ENSG00000207039	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000143621	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000177954	chromatin interactions
ENSG00000143554	chromatin interactions
ENSG00000273026	chromatin interactions
ENSG00000272654	chromatin interactions
ENSG00000198837	chromatin interactions
ENSG00000111676	chromatin interactions
ENSG00000143515	chromatin interactions
ENSG00000198113	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000143570	chromatin interactions
ENSG00000066697	chromatin interactions
ENSG00000067225	chromatin interactions
ENSG00000169418	chromatin interactions
ENSG00000143543	chromatin interactions
ENSG00000185813	chromatin interactions

Extended variants
information (count: 815 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:815 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10158450	chr1:153752139-153752140	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs143554513	chr1:153752153-153752154	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs60240312	chr1:153752155-153752156	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545114532	chr1:153752185-153752186	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182630055	chr1:153752193-153752194	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554202845	chr1:153752201-153752202	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186605841	chr1:153752254-153752255	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148593808	chr1:153752291-153752292	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs199542091	chr1:153752324-153752325	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559054034	chr1:153752332-153752333	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377177127	chr1:153752333-153752334	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191183550	chr1:153752345-153752346	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201498802	chr1:153752365-153752366	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs1132822	chr1:153752381-153752382	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs145546950	chr1:153752395-153752396	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1132823	chr1:153752398-153752399	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs142522769	chr1:153752410-153752411	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs140906306	chr1:153752441-153752442	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs142046125	chr1:153752445-153752446	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs35517522	chr1:153752449-153752450	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs367682870	chr1:153752450-153752451	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs368098884	chr1:153752452-153752453	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs201820055	chr1:153752471-153752472	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs199682747	chr1:153752478-153752479	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs199680176	chr1:153752496-153752497	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs1132826	chr1:153752504-153752505	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs536371133	chr1:153752547-153752548	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs140305504	chr1:153752643-153752644	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs555127708	chr1:153752699-153752700	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs573383785	chr1:153752742-153752743	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs371714366	chr1:153752743-153752744	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs565854139	chr1:153752760-153752761	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs534501177	chr1:153752769-153752770	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs544449708	chr1:153752802-153752803	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs373983936	chr1:153752814-153752815	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs559025698	chr1:153752817-153752818	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs183850275	chr1:153752824-153752825	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs188872247	chr1:153752859-153752860	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs557017842	chr1:153752887-153752888	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs371656261	chr1:153752905-153752906	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs375879703	chr1:153752932-153752933	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs575377691	chr1:153752956-153752957	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs542392933	chr1:153752957-153752958	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs561115265	chr1:153753001-153753002	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs572576780	chr1:153753048-153753049	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs139259632	chr1:153753057-153753058	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs543162558	chr1:153753058-153753059	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs12030242	chr1:153753079-153753080	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs145389616	chr1:153753081-153753082	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs532278177	chr1:153753093-153753094	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1264 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153730800-153752600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:153747000-153755400	Weak transcription	Dnd41	blood
3	chr1:153748800-153755400	Weak transcription	HSMM	muscle
4	chr1:153749000-153755400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:153749000-153755400	Weak transcription	Fetal Kidney	kidney
6	chr1:153749000-153755400	Weak transcription	Thymus	Thymus
7	chr1:153749000-153755600	Enhancers	Pancreas	Pancrea
8	chr1:153749000-153755600	Weak transcription	NH-A	brain
9	chr1:153749200-153752600	Weak transcription	Aorta	Aorta
10	chr1:153749200-153752600	Enhancers	HepG2	liver
11	chr1:153749200-153753800	Enhancers	Right Ventricle	heart
12	chr1:153749200-153755200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:153749200-153755400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:153749200-153755400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:153749200-153755400	Weak transcription	Primary T cells from cord blood	blood
16	chr1:153749200-153755400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:153749200-153755400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:153749200-153755400	Weak transcription	NHDF-Ad	bronchial
19	chr1:153749200-153755400	Weak transcription	NHLF	lung
20	chr1:153749200-153755600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:153749200-153755600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:153749200-153755600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:153749400-153752600	Weak transcription	Small Intestine	intestine
24	chr1:153749400-153755400	Weak transcription	Fetal Brain Female	brain
25	chr1:153749400-153755400	Weak transcription	NHEK	skin
26	chr1:153749600-153753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:153749600-153753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:153749600-153755000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:153749600-153755200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:153749600-153755200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:153749600-153755400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:153749600-153755400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:153749600-153755400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:153749600-153755400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:153749600-153755600	Weak transcription	Brain Substantia Nigra	brain
36	chr1:153749800-153753200	Enhancers	K562	blood
37	chr1:153749800-153754600	Weak transcription	Hela-S3	cervix
38	chr1:153749800-153755400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:153749800-153755400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:153749800-153755400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:153749800-153755400	Weak transcription	Fetal Brain Male	brain
42	chr1:153749800-153755400	Weak transcription	GM12878-XiMat	blood
43	chr1:153749800-153755600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:153750000-153752200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:153750000-153752200	Weak transcription	Ovary	ovary
46	chr1:153750000-153755400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:153750000-153755400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:153750200-153752200	Strong transcription	Fetal Muscle Leg	muscle
49	chr1:153750200-153752600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:153750200-153755400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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