Variant report

Variant	nsv539341
Chromosome Location	chr8:2498609-2787396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1847)
CpG islands
(count:1835)
Chromatin interactive
region (count:206)
LncRNA
region (count:40)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1847 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:2640546-2640565	K562	blood:	n/a	n/a
2	ARID3A	chr8:2569699-2570363	K562	blood:	n/a	n/a
3	ARID3A	chr8:2592824-2593695	K562	blood:	n/a	chr8:2593039-2593055
4	ARID3A	chr8:2645493-2646139	K562	blood:	n/a	n/a
5	ARID3A	chr8:2628561-2628762	K562	blood:	n/a	n/a
6	ARID3A	chr8:2583362-2583786	K562	blood:	n/a	n/a
7	ARID3A	chr8:2743138-2743788	K562	blood:	n/a	n/a
8	ARID3A	chr8:2582455-2583099	K562	blood:	n/a	n/a
9	ARID3A	chr8:2632277-2632294	K562	blood:	n/a	n/a
10	ARID3A	chr8:2498207-2498629	K562	blood:	n/a	n/a
11	ARID3A	chr8:2736432-2736497	K562	blood:	n/a	n/a
12	ARID3A	chr8:2588688-2589234	K562	blood:	n/a	n/a
13	ARID3A	chr8:2591085-2592231	K562	blood:	n/a	n/a
14	ARID3A	chr8:2586788-2587042	K562	blood:	n/a	n/a
15	ARID3A	chr8:2640879-2641488	K562	blood:	n/a	n/a
16	ARID3A	chr8:2571430-2571701	K562	blood:	n/a	n/a
17	ATF1	chr8:2645670-2646221	K562	blood:	n/a	n/a
18	ATF1	chr8:2743389-2743805	K562	blood:	n/a	n/a
19	ATF1	chr8:2641154-2641440	K562	blood:	n/a	n/a
20	ATF1	chr8:2581374-2581475	K562	blood:	n/a	n/a
21	ATF1	chr8:2588667-2588920	K562	blood:	n/a	n/a
22	ATF1	chr8:2591024-2591651	K562	blood:	n/a	n/a
23	ATF2	chr8:2511856-2512641	GM12878	blood:	n/a	n/a
24	ATF2	chr8:2556809-2557171	GM12878	blood:	n/a	n/a
25	ATF2	chr8:2575097-2575545	GM12878	blood:	n/a	n/a
26	ATF2	chr8:2556735-2557319	GM12878	blood:	n/a	n/a
27	ATF2	chr8:2511706-2512568	GM12878	blood:	n/a	n/a
28	ATF2	chr8:2575121-2575588	GM12878	blood:	n/a	n/a
29	ATF3	chr8:2591062-2591346	K562	blood:	n/a	n/a
30	ATF3	chr8:2743392-2743791	K562	blood:	n/a	n/a
31	BACH1	chr8:2628652-2628871	K562	blood:	n/a	n/a
32	BACH1	chr8:2558085-2558096	K562	blood:	n/a	n/a
33	BACH1	chr8:2710537-2710713	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr8:2743400-2743878	K562	blood:	n/a	n/a
35	BACH1	chr8:2628552-2628844	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr8:2743312-2743830	H1-hESC	embryonic stem cell:	n/a	n/a
37	BATF	chr8:2511759-2512659	GM12878	blood:	n/a	n/a
38	BATF	chr8:2577159-2577434	GM12878	blood:	n/a	chr8:2577308-2577319
39	BATF	chr8:2575165-2575442	GM12878	blood:	n/a	chr8:2575395-2575403
40	BATF	chr8:2575236-2575412	GM12878	blood:	n/a	chr8:2575395-2575403
41	BATF	chr8:2780025-2780346	GM12878	blood:	n/a	chr8:2780214-2780225
42	BATF	chr8:2556758-2557340	GM12878	blood:	n/a	n/a
43	BATF	chr8:2556819-2557194	GM12878	blood:	n/a	n/a
44	BATF	chr8:2511886-2512235	GM12878	blood:	n/a	n/a
45	BATF	chr8:2577057-2577495	GM12878	blood:	n/a	chr8:2577308-2577319
46	BCL11A	chr8:2575139-2575457	GM12878	blood:	n/a	n/a
47	BCL11A	chr8:2556744-2557182	GM12878	blood:	n/a	n/a
48	BCL11A	chr8:2512018-2512589	GM12878	blood:	n/a	n/a
49	BCL11A	chr8:2690564-2690825	GM12878	blood:	n/a	chr8:2690626-2690635
50	BCL11A	chr8:2577041-2577262	GM12878	blood:	n/a	n/a

(count:1835 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:2585976-2586026	NB4	blood:	n/a
2	chr8:2670187-2670237	NHDF-neo	bronchial:	n/a
3	chr8:2586911-2586961	AG04449	skin:	fetal
4	chr8:2586911-2586961	HCPEpiC	choroid plexus:	n/a
5	chr8:2545988-2546038	BE2_C	brain:	n/a
6	chr8:2585976-2586026	NB4	blood:	n/a
7	chr8:2670187-2670237	NHDF-neo	bronchial:	n/a
8	chr8:2586911-2586961	AG04449	skin:	fetal
9	chr8:2586911-2586961	HCPEpiC	choroid plexus:	n/a
10	chr8:2545988-2546038	BE2_C	brain:	n/a
11	chr8:2549080-2549130	HRE	kidney:	n/a
12	chr8:2585235-2585285	HCPEpiC	choroid plexus:	n/a
13	chr8:2591411-2591461	HL-60	blood:	n/a
14	chr8:2591411-2591461	HRE	kidney:	n/a
15	chr8:2538355-2538405	ECC-1	luminal epithelium:	n/a
16	chr8:2585235-2585285	NB4	blood:	n/a
17	chr8:2585235-2585285	IMR90	lung:	fetal
18	chr8:2628628-2628678	HRPEpiC	eye:	n/a
19	chr8:2549080-2549130	HCF	heart:	n/a
20	chr8:2538249-2538299	Jurkat	blood:	n/a
21	chr8:2545988-2546038	H1-hESC	embryonic stem cell:	embryo
22	chr8:2545988-2546038	HCT-116	colon:	n/a
23	chr8:2609661-2609711	SAEC	small airway:	n/a
24	chr8:2591265-2591315	HCPEpiC	choroid plexus:	n/a
25	chr8:2586225-2586275	PrEC	prostate:	n/a
26	chr8:2752759-2752809	H1-hESC	embryonic stem cell:	embryo
27	chr8:2585666-2585716	NB4	blood:	n/a
28	chr8:2670187-2670237	HEK293	kidney:	embryo
29	chr8:2586911-2586961	IMR90	lung:	fetal
30	chr8:2752736-2752786	HRPEpiC	eye:	n/a
31	chr8:2669421-2669471	HCF	heart:	n/a
32	chr8:2538355-2538405	HPAEpiC	pulmonary alveolar:	n/a
33	chr8:2586225-2586275	HRPEpiC	eye:	n/a
34	chr8:2670359-2670409	HCM	heart:	n/a
35	chr8:2628628-2628678	RPTEC	kidney:	n/a
36	chr8:2538355-2538405	HCF	heart:	n/a
37	chr8:2609661-2609711	SK-N-MC	brain:	n/a
38	chr8:2670359-2670409	H1-hESC	embryonic stem cell:	embryo
39	chr8:2591207-2591257	AG09319	gingival:	n/a
40	chr8:2538355-2538405	U87	brain:	n/a
41	chr8:2609691-2609741	HCF	heart:	n/a
42	chr8:2586225-2586275	SK-N-MC	brain:	n/a
43	chr8:2752782-2752832	Hepatocyte	liver:	n/a
44	chr8:2609691-2609741	SAEC	small airway:	n/a
45	chr8:2545988-2546038	HRCEpiC	kidney:	n/a
46	chr8:2752736-2752786	T-47D	breast:	n/a
47	chr8:2669372-2669422	NH-A	brain:	n/a
48	chr8:2752782-2752832	CMK	blood:	n/a
49	chr8:2538355-2538405	NHDF-neo	bronchial:	n/a
50	chr8:2741025-2741075	HAEpiC	amniotic membrane:	n/a

(count:206 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr8:2578577..2581342-chr8:2628973..2630949,2	K562	blood:
2	chr8:2587156..2590098-chr8:2597980..2600237,2	K562	blood:
3	chr8:2636014..2638648-chr8:2639734..2641610,2	K562	blood:
4	chr8:2783957..2786248-chr8:2796648..2799482,2	K562	blood:
5	chr8:2733961..2735891-chr8:2736089..2737715,2	K562	blood:
6	chr8:2510133..2511734-chr8:2513835..2516720,2	K562	blood:
7	chr8:2588918..2591630-chr8:2632391..2633990,2	K562	blood:
8	chr8:2629126..2630939-chr8:2635641..2638052,2	K562	blood:
9	chr8:2743139..2745505-chr8:2752998..2755650,2	K562	blood:
10	chr8:2586489..2588767-chr8:2645742..2647467,2	K562	blood:
11	chr8:2562242..2563775-chr8:2567486..2569900,2	K562	blood:
12	chr8:2621028..2623848-chr8:2627969..2631873,3	K562	blood:
13	chr8:2578568..2580077-chr8:2629449..2631121,2	K562	blood:
14	chr8:2569757..2570653-chr8:2671876..2672455,2	K562	blood:
15	chr8:2770834..2772446-chr8:2773950..2776616,2	K562	blood:
16	chr8:2578154..2579763-chr8:2619502..2622316,2	K562	blood:
17	chr8:2582217..2584470-chr8:2644052..2646887,2	K562	blood:
18	chr8:2676109..2678160-chr8:2681617..2684101,2	K562	blood:
19	chr8:2547466..2548999-chr8:2550083..2552313,2	K562	blood:
20	chr8:2594821..2596661-chr8:2659400..2661815,2	K562	blood:
21	chr8:2510234..2512755-chr8:2514414..2516720,2	K562	blood:
22	chr8:2583662..2585649-chr8:2628654..2630173,2	K562	blood:
23	chr8:2556595..2559476-chr8:2562170..2563864,2	K562	blood:
24	chr8:2621028..2623848-chr8:2627969..2631873,3	K562	blood:
25	chr8:2584493..2586709-chr8:2648044..2650794,2	K562	blood:
26	chr8:2589525..2591658-chr8:2644551..2646934,3	K562	blood:
27	chr8:2626526..2629237-chr8:2643013..2645044,2	K562	blood:
28	chr8:2523638..2525296-chr8:2550223..2552955,2	K562	blood:
29	chr8:2547466..2548999-chr8:2550083..2552313,2	K562	blood:
30	chr8:2581583..2583717-chr8:2629779..2632659,2	K562	blood:
31	chr8:2497129..2499785-chr8:2507800..2510301,2	K562	blood:
32	chr8:2607594..2609173-chr8:2610051..2612762,2	K562	blood:
33	chr8:2646083..2648399-chr8:2651265..2652785,2	K562	blood:
34	chr8:2607594..2609173-chr8:2610051..2612762,2	K562	blood:
35	chr8:2743139..2745505-chr8:2752998..2755650,2	K562	blood:
36	chr8:2479673..2481639-chr8:2496589..2499424,2	K562	blood:
37	chr8:2599331..2602317-chr8:2606711..2608405,2	K562	blood:
38	chr8:2606417..2608305-chr8:6263383..6265567,2	K562	blood:
39	chr8:2591672..2593360-chr8:2600937..2603510,2	K562	blood:
40	chr8:2594821..2596661-chr8:2659400..2661815,2	K562	blood:
41	chr8:2591664..2593883-chr8:2609640..2612536,2	K562	blood:
42	chr8:2527298..2531531-chr8:2571196..2574583,3	K562	blood:
43	chr8:2578255..2580228-chr8:2646659..2649405,2	K562	blood:
44	chr8:2591282..2593372-chr8:2644947..2647194,2	K562	blood:
45	chr8:2590579..2593269-chr8:2597345..2599839,2	K562	blood:
46	chr8:2211929..2212491-chr8:2672159..2672723,2	K562	blood:
47	chr8:2607225..2609833-chr8:2620743..2622482,2	K562	blood:
48	chr8:2630755..2632834-chr8:2650652..2652206,2	K562	blood:
49	chr8:2582144..2584823-chr8:2599195..2601671,2	K562	blood:
50	chr8:2675575..2676101-chr8:3394089..3394683,2	MCF-7	breast:

(count:40 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSMD1-1	chr8:2532238-2532353	ENSG00000254319
2	lnc-CSMD1-1	chr8:2536358-2536440	ENSG00000254319
3	lnc-CSMD1-1	chr8:2562746-2562851	XLOC_006980
4	lnc-CSMD1-1	chr8:2585870-2585957	ENSG00000254319
5	lnc-CSMD1-1	chr8:2562746-2562817	ENSG00000254319
6	lnc-MYOM2-4	chr8:2662104-2662227	ENSG00000253853
7	lnc-CSMD1-1	chr8:2585870-2585959	ENSG00000254319
8	lnc-CSMD1-1	chr8:2532238-2532353	ENSG00000254319
9	lnc-CSMD1-1	chr8:2532111-2532353	XLOC_006980
10	lnc-CSMD1-1	chr8:2562746-2562817	ENSG00000254319
11	lnc-CSMD1-12	chr8:2541463-2541879	ucscGeneNc_uc003wqb_1
12	lnc-CSMD1-1	chr8:2523591-2523700	ENSG00000254319
13	lnc-MYOM2-12	chr8:2694306-2694604	NONHSAT124738
14	lnc-CSMD1-1	chr8:2527341-2527521	ENSG00000254319
15	lnc-CSMD1-1	chr8:2554056-2554472	XLOC_006980
16	lnc-CSMD1-12	chr8:2550153-2550224	ucscGeneNc_uc003wqb_1
17	lnc-MYOM2-4	chr8:2676789-2676941	ENSG00000253853
18	lnc-MYOM2-4	chr8:2665889-2665956	ENSG00000253853
19	lnc-CSMD1-1	chr8:2562746-2562808	XLOC_006980
20	lnc-MYOM2-4	chr8:2584690-2585033	XLOC_006690
21	lnc-MYOM2-10	chr8:2533633-2534528	NONHSAT124732
22	lnc-MYOM2-11	chr8:2670856-2671431	NONHSAT124737
23	lnc-CSMD1-12	chr8:2573277-2573364	ucscGeneNc_uc003wqb_1
24	lnc-CSMD1-1	chr8:2558974-2559395	ENSG00000254319
25	lnc-CSMD1-1	chr8:2579024-2579126	ENSG00000254319
26	lnc-CSMD1-1	chr8:2562746-2562817	ENSG00000254319
27	lnc-CSMD1-1	chr8:2562746-2562817	XLOC_006980
28	lnc-CSMD1-1	chr8:2585870-2585957	XLOC_006980
29	lnc-MYOM2-4	chr8:2679916-2680004	ENSG00000253853
30	lnc-CSMD1-1	chr8:2585870-2585959	ENSG00000254319
31	lnc-MYOM2-4	chr8:2584858-2585033	ENSG00000253853
32	lnc-MYOM2-12	chr8:2692294-2692594	NONHSAT124738
33	lnc-CSMD1-1	chr8:2585870-2585991	ENSG00000254319
34	lnc-CSMD1-1	chr8:2527293-2527521	ENSG00000254319
35	lnc-CSMD1-1	chr8:2554297-2554472	XLOC_006980
36	lnc-CSMD1-1	chr8:2527314-2527521	ENSG00000254319
37	lnc-MYOM2-12	chr8:2691861-2692100	NONHSAT124738
38	lnc-CSMD1-1	chr8:2532238-2532353	ENSG00000254319
39	lnc-MYOM2-4	chr8:2662104-2662202	XLOC_006690
40	lnc-MYOM2-13	chr8:2778500-2779629	NONHSAT124739

No data

Variant related genes	Relation type
ENSG00000253853	TF binding region
ENSG00000254319	TF binding region
ENSG00000253853	CpG island
ENSG00000254319	CpG island
ENSG00000253853	chromatin interactions
ENSG00000246089	chromatin interactions
ENSG00000249694	chromatin interactions
ENSG00000254319	chromatin interactions
ENSG00000147316	chromatin interactions
BCL11A	miRNA target sites
TXNDC16	miRNA target sites
SFRS2IP	miRNA target sites

Extended variants
information (count: 13656 )
Associated
traits (count: 129 )

Variant overlapped rSNPs/rCNVs (count:13656 , 50 per page) page: 1 2 3 4 5 6 7 ... 274

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571448447	chr8:2498617-2498618	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs202073860	chr8:2498619-2498620	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34682619	chr8:2498620-2498621	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10100592	chr8:2498621-2498622	Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs567335587	chr8:2498622-2498623	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs35073160	chr8:2498636-2498637	Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556471430	chr8:2498641-2498642	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35281861	chr8:2498642-2498643	Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371671514	chr8:2498661-2498662	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538595881	chr8:2498688-2498689	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567174013	chr8:2498695-2498696	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35443097	chr8:2498698-2498699	Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs193113106	chr8:2498725-2498726	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373379268	chr8:2498728-2498729	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150207889	chr8:2498729-2498730	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534397114	chr8:2498792-2498793	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554376944	chr8:2498806-2498807	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372909667	chr8:2498836-2498837	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574116258	chr8:2498873-2498874	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543326515	chr8:2498915-2498916	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372089126	chr8:2498918-2498919	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569037363	chr8:2498946-2498947	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185567121	chr8:2498967-2498968	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189175424	chr8:2498971-2498972	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs62488397	chr8:2498975-2498976	Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs564916126	chr8:2498976-2498977	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs9969541	chr8:2498982-2498983	Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547542362	chr8:2499004-2499005	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs115556253	chr8:2499036-2499037	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529805879	chr8:2499095-2499096	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550111852	chr8:2499113-2499114	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372466128	chr8:2499123-2499124	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570003198	chr8:2499125-2499126	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs138813124	chr8:2499138-2499139	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs552227954	chr8:2499139-2499140	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531008750	chr8:2499155-2499156	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141992999	chr8:2499159-2499160	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs191113178	chr8:2499179-2499180	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs534730583	chr8:2499184-2499185	Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs57648838	chr8:2499187-2499188	Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs146299031	chr8:2499200-2499201	Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs550924161	chr8:2499208-2499209	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs536407379	chr8:2499217-2499218	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556336286	chr8:2499243-2499244	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs9969547	chr8:2499258-2499259	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs117996634	chr8:2499279-2499280	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs28491604	chr8:2499282-2499283	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs138495132	chr8:2499286-2499287	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs58201812	chr8:2499289-2499290	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs184141693	chr8:2499291-2499292	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:129)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:895 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2498000-2499200	Flanking Active TSS	K562	blood
2	chr8:2499200-2499400	Enhancers	K562	blood
3	chr8:2499400-2504800	Weak transcription	K562	blood
4	chr8:2504800-2505000	Enhancers	K562	blood
5	chr8:2505000-2505400	Flanking Active TSS	K562	blood
6	chr8:2510600-2510800	Enhancers	GM12878-XiMat	blood
7	chr8:2510800-2511800	Flanking Active TSS	GM12878-XiMat	blood
8	chr8:2511000-2511400	Enhancers	Fetal Kidney	kidney
9	chr8:2511200-2512000	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:2511200-2512800	Enhancers	Fetal Muscle Leg	muscle
11	chr8:2511200-2513000	Enhancers	Primary B cells from cord blood	blood
12	chr8:2511400-2512000	Active TSS	Fetal Kidney	kidney
13	chr8:2511800-2512800	Active TSS	GM12878-XiMat	blood
14	chr8:2512000-2512600	Enhancers	Fetal Kidney	kidney
15	chr8:2512200-2512600	Enhancers	Osteobl	bone
16	chr8:2512200-2512800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:2512200-2512800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:2512200-2512800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:2512200-2512800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:2512200-2512800	Enhancers	K562	blood
21	chr8:2512400-2512800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr8:2512400-2512800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:2512400-2512800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr8:2512400-2512800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr8:2512400-2512800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:2512600-2512800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:2512600-2512800	Flanking Active TSS	Fetal Kidney	kidney
28	chr8:2512800-2513000	Enhancers	Fetal Kidney	kidney
29	chr8:2513000-2514800	Weak transcription	Fetal Kidney	kidney
30	chr8:2514800-2516200	Enhancers	Fetal Kidney	kidney
31	chr8:2522000-2527000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:2522800-2523000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:2524600-2526200	Weak transcription	Fetal Stomach	stomach
34	chr8:2525400-2525600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:2525800-2526000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:2526000-2526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:2526200-2527400	Strong transcription	Fetal Stomach	stomach
38	chr8:2526600-2527400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:2526800-2527400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:2527000-2527600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:2527200-2527600	Enhancers	Esophagus	oesophagus
42	chr8:2527400-2527600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:2527400-2534800	Weak transcription	Fetal Stomach	stomach
44	chr8:2527600-2529200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:2530400-2531200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:2531200-2533800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:2531800-2532400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:2531800-2532600	Enhancers	Esophagus	oesophagus
49	chr8:2532400-2534000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:2532600-2533800	Weak transcription	Esophagus	oesophagus

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