Variant report

Variant	nsv1015876
Chromosome Location	chr8:2292235-2628694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2259)
CpG islands
(count:2748)
Chromatin interactive
region (count:164)
LncRNA
region (count:68)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2259 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:2586788-2587042	K562	blood:	n/a	n/a
2	ARID3A	chr8:2571430-2571701	K562	blood:	n/a	n/a
3	ARID3A	chr8:2481567-2481907	K562	blood:	n/a	n/a
4	ARID3A	chr8:2591085-2592231	K562	blood:	n/a	n/a
5	ARID3A	chr8:2588688-2589234	K562	blood:	n/a	n/a
6	ARID3A	chr8:2583362-2583786	K562	blood:	n/a	n/a
7	ARID3A	chr8:2569699-2570363	K562	blood:	n/a	n/a
8	ARID3A	chr8:2498207-2498629	K562	blood:	n/a	n/a
9	ARID3A	chr8:2628561-2628762	K562	blood:	n/a	n/a
10	ARID3A	chr8:2582455-2583099	K562	blood:	n/a	n/a
11	ARID3A	chr8:2592824-2593695	K562	blood:	n/a	chr8:2593039-2593055
12	ARID3A	chr8:2422230-2422288	HepG2	liver:	n/a	n/a
13	ATF1	chr8:2364197-2364540	K562	blood:	n/a	n/a
14	ATF1	chr8:2581374-2581475	K562	blood:	n/a	n/a
15	ATF1	chr8:2588667-2588920	K562	blood:	n/a	n/a
16	ATF1	chr8:2591024-2591651	K562	blood:	n/a	n/a
17	ATF1	chr8:2321922-2322096	K562	blood:	n/a	n/a
18	ATF2	chr8:2511706-2512568	GM12878	blood:	n/a	n/a
19	ATF2	chr8:2511856-2512641	GM12878	blood:	n/a	n/a
20	ATF2	chr8:2575121-2575588	GM12878	blood:	n/a	n/a
21	ATF2	chr8:2556735-2557319	GM12878	blood:	n/a	n/a
22	ATF2	chr8:2575097-2575545	GM12878	blood:	n/a	n/a
23	ATF2	chr8:2556809-2557171	GM12878	blood:	n/a	n/a
24	ATF3	chr8:2591062-2591346	K562	blood:	n/a	n/a
25	BACH1	chr8:2480966-2481250	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr8:2383091-2383398	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr8:2365267-2365272	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr8:2628652-2628871	K562	blood:	n/a	n/a
29	BACH1	chr8:2558085-2558096	K562	blood:	n/a	n/a
30	BACH1	chr8:2628552-2628844	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr8:2476042-2476063	K562	blood:	n/a	n/a
32	BATF	chr8:2511886-2512235	GM12878	blood:	n/a	n/a
33	BATF	chr8:2577057-2577495	GM12878	blood:	n/a	chr8:2577308-2577319
34	BATF	chr8:2575165-2575442	GM12878	blood:	n/a	chr8:2575395-2575403
35	BATF	chr8:2556758-2557340	GM12878	blood:	n/a	n/a
36	BATF	chr8:2575236-2575412	GM12878	blood:	n/a	chr8:2575395-2575403
37	BATF	chr8:2577159-2577434	GM12878	blood:	n/a	chr8:2577308-2577319
38	BATF	chr8:2511759-2512659	GM12878	blood:	n/a	n/a
39	BATF	chr8:2556819-2557194	GM12878	blood:	n/a	n/a
40	BCL11A	chr8:2512018-2512589	GM12878	blood:	n/a	n/a
41	BCL11A	chr8:2577041-2577262	GM12878	blood:	n/a	n/a
42	BCL11A	chr8:2556744-2557182	GM12878	blood:	n/a	n/a
43	BCL11A	chr8:2576992-2577351	GM12878	blood:	n/a	n/a
44	BCL11A	chr8:2511931-2512590	GM12878	blood:	n/a	n/a
45	BCL11A	chr8:2413234-2413557	GM12878	blood:	n/a	n/a
46	BCL11A	chr8:2575139-2575457	GM12878	blood:	n/a	n/a
47	BCL3	chr8:2508476-2508796	GM12878	blood:	n/a	n/a
48	BCL3	chr8:2339608-2340114	GM12878	blood:	n/a	n/a
49	BCL3	chr8:2510316-2510701	GM12878	blood:	n/a	n/a
50	BCL3	chr8:2339563-2339921	GM12878	blood:	n/a	n/a

(count:2748 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:2548901-2548951	SK-N-SH_RA	brain:	n/a
2	chr8:2609691-2609741	NHDF-neo	bronchial:	n/a
3	chr8:2480911-2480961	GM12892	blood:	n/a
4	chr8:2548901-2548951	SK-N-SH_RA	brain:	n/a
5	chr8:2609691-2609741	NHDF-neo	bronchial:	n/a
6	chr8:2480911-2480961	GM12892	blood:	n/a
7	chr8:2586225-2586275	T-47D	breast:	n/a
8	chr8:2549080-2549130	HIPEpiC	eye:	n/a
9	chr8:2548901-2548951	GM19239	blood:	n/a
10	chr8:2538305-2538355	BE2_C	brain:	n/a
11	chr8:2538355-2538405	PrEC	prostate:	n/a
12	chr8:2538355-2538405	HUVEC	blood vessel:	n/a
13	chr8:2363737-2363787	H1-hESC	embryonic stem cell:	embryo
14	chr8:2418143-2418193	PANC-1	pancreas:	n/a
15	chr8:2585976-2586026	BE2_C	brain:	n/a
16	chr8:2585235-2585285	HRCEpiC	kidney:	n/a
17	chr8:2418520-2418570	HCT-116	colon:	n/a
18	chr8:2363092-2363142	AG10803	skin:	n/a
19	chr8:2591265-2591315	AG10803	skin:	n/a
20	chr8:2481226-2481276	HRE	kidney:	n/a
21	chr8:2585235-2585285	H1-hESC	embryonic stem cell:	embryo
22	chr8:2628628-2628678	GM12878	blood:	n/a
23	chr8:2548901-2548951	GM12892	blood:	n/a
24	chr8:2337492-2337542	GM12878	blood:	n/a
25	chr8:2341971-2342021	IMR90	lung:	fetal
26	chr8:2341971-2342021	AoSMC	blood vessel:	n/a
27	chr8:2419119-2419169	HCM	heart:	n/a
28	chr8:2341828-2341878	AG10803	skin:	n/a
29	chr8:2418966-2419016	CMK	blood:	n/a
30	chr8:2341828-2341878	BE2_C	brain:	n/a
31	chr8:2483325-2483375	AoSMC	blood vessel:	n/a
32	chr8:2362927-2362977	NHBE	bronchial:	n/a
33	chr8:2419822-2419872	AG09309	skin:	n/a
34	chr8:2483325-2483375	ProgFib	skin:	n/a
35	chr8:2483325-2483375	BE2_C	brain:	n/a
36	chr8:2628628-2628678	U87	brain:	n/a
37	chr8:2586911-2586961	A549	lung:	n/a
38	chr8:2418966-2419016	PrEC	prostate:	n/a
39	chr8:2585235-2585285	T-47D	breast:	n/a
40	chr8:2418520-2418570	HCM	heart:	n/a
41	chr8:2337813-2337863	NH-A	brain:	n/a
42	chr8:2418966-2419016	HCT-116	colon:	n/a
43	chr8:2591265-2591315	NT2-D1	testis:	n/a
44	chr8:2418143-2418193	PFSK-1	brain:	n/a
45	chr8:2548901-2548951	PANC-1	pancreas:	n/a
46	chr8:2418520-2418570	AG04449	skin:	fetal
47	chr8:2418843-2418893	NHDF-neo	bronchial:	n/a
48	chr8:2628628-2628678	BE2_C	brain:	n/a
49	chr8:2418143-2418193	HUVEC	blood vessel:	n/a
50	chr8:2586225-2586275	AG04450	lung:	fetal

(count:164 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr8:2507364..2510373-chr8:2511304..2513701,3	K562	blood:
2	chr8:2547306..2548966-chr8:2550083..2551801,2	K562	blood:
3	chr8:2620299..2623099-chr8:2627454..2628985,2	K562	blood:
4	chr8:2569757..2570653-chr8:2671876..2672455,2	K562	blood:
5	chr8:2590579..2593269-chr8:2597345..2599839,2	K562	blood:
6	chr8:2469097..2469662-chr8:2481085..2481734,2	K562	blood:
7	chr8:2617946..2621855-chr8:2622304..2626900,6	K562	blood:
8	chr8:2562242..2563775-chr8:2567486..2569900,2	K562	blood:
9	chr8:2482979..2484978-chr8:2488581..2491856,3	K562	blood:
10	chr8:2241113..2241844-chr8:2312263..2313095,3	MCF-7	breast:
11	chr8:2588732..2590770-chr8:2607526..2610029,2	K562	blood:
12	chr8:2586489..2588767-chr8:2645742..2647467,2	K562	blood:
13	chr8:2578577..2581342-chr8:2628973..2630949,2	K562	blood:
14	chr8:2591672..2593360-chr8:2600937..2603510,2	K562	blood:
15	chr8:2587156..2590098-chr8:2597980..2600237,2	K562	blood:
16	chr8:2588399..2590579-chr8:2619953..2621933,2	K562	blood:
17	chr8:2506228..2508567-chr8:2527407..2529013,2	K562	blood:
18	chr8:2555193..2558064-chr8:2558370..2560198,2	K562	blood:
19	chr8:2482979..2484810-chr8:2488581..2490699,2	K562	blood:
20	chr8:2552954..2555727-chr8:2581547..2584514,2	K562	blood:
21	chr8:2598798..2600959-chr8:2603763..2608405,4	K562	blood:
22	chr8:2592045..2593873-chr8:2639139..2641093,2	K562	blood:
23	chr8:2620299..2623099-chr8:2627454..2628985,2	K562	blood:
24	chr8:2593399..2598428-chr8:2599653..2604121,4	K562	blood:
25	chr8:2622298..2624399-chr8:2625541..2627206,2	K562	blood:
26	chr8:2588732..2590770-chr8:2607526..2610029,2	K562	blood:
27	chr8:2485717..2487304-chr8:2488828..2491745,2	K562	blood:
28	chr8:2426482..2427246-chr8:2671820..2672460,2	MCF-7	breast:
29	chr8:2585736..2588066-chr8:2601157..2603810,2	K562	blood:
30	chr8:2597895..2600148-chr8:2611111..2612738,2	K562	blood:
31	chr8:2594821..2596661-chr8:2659400..2661815,2	K562	blood:
32	chr8:2441868..2443502-chr8:2450013..2451632,2	K562	blood:
33	chr8:2576472..2578839-chr8:2602489..2604209,2	K562	blood:
34	chr8:2308369..2308915-chr8:2671740..2672327,2	MCF-7	breast:
35	chr8:2564777..2566535-chr8:2633073..2636041,2	K562	blood:
36	chr8:2499683..2502977-chr8:2504962..2506847,3	K562	blood:
37	chr8:2582144..2584823-chr8:2599195..2601671,2	K562	blood:
38	chr8:2599331..2602317-chr8:2606711..2608405,2	K562	blood:
39	chr8:2439131..2441221-chr8:2443084..2444949,2	K562	blood:
40	chr8:2481168..2482894-chr8:2487375..2489303,2	K562	blood:
41	chr8:2607594..2609173-chr8:2610051..2612762,2	K562	blood:
42	chr8:2599818..2601466-chr8:2615794..2618126,2	K562	blood:
43	chr8:2588918..2591630-chr8:2632391..2633990,2	K562	blood:
44	chr8:2591664..2593883-chr8:2609640..2612536,2	K562	blood:
45	chr8:2578154..2579763-chr8:2619502..2622316,2	K562	blood:
46	chr8:2487751..2489850-chr8:2492205..2494827,2	K562	blood:
47	chr8:2584178..2586642-chr8:2609654..2611417,2	K562	blood:
48	chr8:2621028..2623848-chr8:2627969..2631873,3	K562	blood:
49	chr8:2448991..2451601-chr8:2459383..2460898,2	K562	blood:
50	chr8:2547282..2550565-chr8:2554258..2557682,4	K562	blood:

(count:68 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSMD1-2	chr8:2480383-2480453	ENSG00000249694
2	lnc-CSMD1-2	chr8:2453716-2453795	ENSG00000249694
3	lnc-CSMD1-1	chr8:2585870-2585991	ENSG00000254319
4	lnc-CSMD1-2	chr8:2452654-2452794	NONHSAT124723
5	lnc-CSMD1-4	chr8:2369546-2369693	ENSG00000253444
6	lnc-CSMD1-2	chr8:2447076-2448340	ENSG00000249694
7	lnc-CSMD1-1	chr8:2585870-2585959	ENSG00000254319
8	lnc-CSMD1-1	chr8:2562746-2562817	ENSG00000254319
9	lnc-CSMD1-1	chr8:2523591-2523700	ENSG00000254319
10	lnc-CSMD1-1	chr8:2562746-2562817	ENSG00000254319
11	lnc-CSMD1-16	chr8:2411325-2411575	NONHSAT124720
12	lnc-MYOM2-4	chr8:2584858-2585033	ENSG00000253853
13	lnc-CSMD1-2	chr8:2447078-2448340	XLOC_006979
14	lnc-CSMD1-1	chr8:2527293-2527521	ENSG00000254319
15	lnc-CSMD1-1	chr8:2554056-2554472	XLOC_006980
16	lnc-CSMD1-14	chr8:2441571-2442129	NONHSAT124721
17	lnc-CSMD1-2	chr8:2452656-2452794	ENSG00000249694
18	lnc-MYOM2-3	chr8:2376770-2376860	ENSG00000253855
19	lnc-CSMD1-2	chr8:2452656-2452794	XLOC_006979
20	lnc-CSMD1-15	chr8:2434485-2435747	ucscGeneNc_uc003wqa_2
21	lnc-CSMD1-12	chr8:2541463-2541879	ucscGeneNc_uc003wqb_1
22	lnc-MYOM2-3	chr8:2376124-2376349	ENSG00000253855
23	lnc-CSMD1-12	chr8:2573277-2573364	ucscGeneNc_uc003wqb_1
24	lnc-CSMD1-1	chr8:2558974-2559395	ENSG00000254319
25	lnc-CSMD1-3	chr8:2387147-2387293	XLOC_006978
26	lnc-CSMD1-1	chr8:2532238-2532353	ENSG00000254319
27	lnc-CSMD1-2	chr8:2447076-2448340	ENSG00000249694
28	lnc-MYOM2-3	chr8:2379067-2379308	ENSG00000253855
29	lnc-CSMD1-1	chr8:2585870-2585957	ENSG00000254319
30	lnc-CSMD1-2	chr8:2461872-2462021	NONHSAT124723
31	lnc-CSMD1-1	chr8:2532111-2532353	XLOC_006980
32	lnc-CSMD1-1	chr8:2562746-2562817	ENSG00000254319
33	lnc-CSMD1-15	chr8:2440063-2440201	ucscGeneNc_uc003wqa_2
34	lnc-CSMD1-2	chr8:2453716-2453795	NONHSAT124723
35	lnc-CSMD1-15	chr8:2449279-2449428	ucscGeneNc_uc003wqa_2
36	lnc-MYOM2-9	chr8:2414385-2414541	NONHSAT124719
37	lnc-CSMD1-1	chr8:2527341-2527521	ENSG00000254319
38	lnc-CSMD1-4	chr8:2368038-2368185	ENSG00000253444
39	lnc-CSMD1-2	chr8:2480383-2480453	NONHSAT124723
40	lnc-MYOM2-9	chr8:2407534-2407710	NONHSAT124719
41	lnc-CSMD1-1	chr8:2562746-2562817	XLOC_006980
42	lnc-MYOM2-10	chr8:2533633-2534528	NONHSAT124732
43	lnc-CSMD1-1	chr8:2532238-2532353	ENSG00000254319
44	lnc-CSMD1-1	chr8:2554297-2554472	XLOC_006980
45	lnc-CSMD1-2	chr8:2453716-2453795	XLOC_006979
46	lnc-CSMD1-1	chr8:2527314-2527521	ENSG00000254319
47	lnc-CSMD1-1	chr8:2585870-2585957	XLOC_006980
48	lnc-CSMD1-12	chr8:2550153-2550224	ucscGeneNc_uc003wqb_1
49	lnc-CSMD1-3	chr8:2415813-2415857	XLOC_006978
50	lnc-CSMD1-15	chr8:2441123-2441202	ucscGeneNc_uc003wqa_2

No data

Variant related genes	Relation type
ENSG00000249694	TF binding region
ENSG00000253855	TF binding region
ENSG00000253444	TF binding region
ENSG00000253853	TF binding region
ENSG00000254319	TF binding region
ENSG00000249694	CpG island
ENSG00000253855	CpG island
ENSG00000253444	CpG island
ENSG00000253853	CpG island
ENSG00000254319	CpG island
ENSG00000183117	chromatin interactions
ENSG00000246089	chromatin interactions
ENSG00000253853	chromatin interactions
ENSG00000254319	chromatin interactions
ENSG00000249694	chromatin interactions
ENSG00000147316	chromatin interactions
RYK	miRNA target sites
YWHAZ	miRNA target sites
AP3M1	miRNA target sites
LARP4	miRNA target sites
PPP3R1	miRNA target sites
TRIP12	miRNA target sites
BCL11A	miRNA target sites
SFRS2IP	miRNA target sites
PPM1D	miRNA target sites
SDHC	miRNA target sites
TXNDC16	miRNA target sites
SLC39A11	miRNA target sites

Extended variants
information (count: 13956 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:13956 , 50 per page) page: 1 2 3 4 5 6 7 ... 280

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147484472	chr8:2292270-2292271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187506858	chr8:2292328-2292329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6992567	chr8:2292329-2292330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538923259	chr8:2292385-2292386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143848161	chr8:2292419-2292420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6997681	chr8:2292464-2292465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34267357	chr8:2292468-2292469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553385635	chr8:2292476-2292477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs60448366	chr8:2292486-2292487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574895646	chr8:2292515-2292516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4256620	chr8:2292517-2292518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147318128	chr8:2292527-2292528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7017375	chr8:2292537-2292538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs535681638	chr8:2292539-2292540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557019710	chr8:2292545-2292546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559726153	chr8:2292547-2292548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555168110	chr8:2292554-2292555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192869534	chr8:2292582-2292583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202131317	chr8:2292583-2292584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543520052	chr8:2292630-2292631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563431227	chr8:2292635-2292636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568028388	chr8:2292638-2292639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78823318	chr8:2292643-2292644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550430867	chr8:2292658-2292659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570227998	chr8:2292663-2292664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538884174	chr8:2292675-2292676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148804584	chr8:2292680-2292681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566033356	chr8:2292695-2292696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185794526	chr8:2292700-2292701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554966374	chr8:2292735-2292736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35399556	chr8:2292745-2292746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543879370	chr8:2292756-2292757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557223182	chr8:2292850-2292851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577103750	chr8:2292896-2292897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112548830	chr8:2292940-2292941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559640217	chr8:2292946-2292947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190471607	chr8:2292956-2292957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559338473	chr8:2292966-2292967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528379819	chr8:2292984-2292985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541791308	chr8:2293055-2293056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193219310	chr8:2293061-2293062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372239041	chr8:2293062-2293063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372470983	chr8:2293067-2293068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550641616	chr8:2293079-2293080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570459611	chr8:2293099-2293100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139090209	chr8:2293129-2293130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144016192	chr8:2293131-2293132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565997655	chr8:2293173-2293174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534972053	chr8:2293189-2293190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561769993	chr8:2293212-2293213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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	21364760	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
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Colorectal cancer	16774939	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:1171 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2283200-2296200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:2296000-2296600	ZNF genes & repeats	Pancreas	Pancrea
3	chr8:2296000-2296800	ZNF genes & repeats	Gastric	stomach
4	chr8:2296200-2296800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:2306800-2307000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:2306800-2307000	Enhancers	Fetal Thymus	thymus
7	chr8:2307600-2307800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:2307800-2308200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:2307800-2308600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:2308000-2308400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:2308000-2308400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:2308000-2308400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:2308000-2308400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:2308000-2308400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:2308600-2312200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:2309200-2309400	Enhancers	Fetal Brain Male	brain
17	chr8:2309400-2311600	Weak transcription	Fetal Brain Male	brain
18	chr8:2311000-2311800	Enhancers	Fetal Heart	heart
19	chr8:2311600-2311800	Enhancers	Fetal Brain Male	brain
20	chr8:2311800-2312400	Weak transcription	Fetal Brain Male	brain
21	chr8:2312000-2312400	Enhancers	Pancreas	Pancrea
22	chr8:2312400-2313200	Enhancers	Fetal Brain Male	brain
23	chr8:2312400-2314800	Weak transcription	Pancreas	Pancrea
24	chr8:2319200-2319400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:2319200-2320400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:2319200-2320800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:2319400-2319800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:2319600-2320400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:2319800-2320800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:2320800-2321000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:2337000-2337600	Enhancers	Fetal Thymus	thymus
32	chr8:2337200-2337400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:2337400-2339600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:2339600-2340000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:2339800-2340000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr8:2339800-2340000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:2339800-2340000	Enhancers	Pancreas	Pancrea
38	chr8:2339800-2340000	Bivalent Enhancer	K562	blood
39	chr8:2339800-2340200	ZNF genes & repeats	Fetal Kidney	kidney
40	chr8:2340200-2340600	Weak transcription	Fetal Kidney	kidney
41	chr8:2341200-2343000	Weak transcription	Spleen	Spleen
42	chr8:2343000-2343200	Enhancers	Spleen	Spleen
43	chr8:2346400-2351000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:2348200-2349000	Enhancers	Brain Hippocampus Middle	brain
45	chr8:2348400-2349000	Enhancers	Brain Anterior Caudate	brain
46	chr8:2348400-2349000	Enhancers	Brain Cingulate Gyrus	brain
47	chr8:2348400-2349200	Enhancers	Brain Substantia Nigra	brain
48	chr8:2348800-2349200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr8:2350200-2351000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
50	chr8:2352200-2352400	Flanking Bivalent TSS/Enh	Lung	lung

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