Variant report

Variant	nsv609674
Chromosome Location	chr8:2311671-2582764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1503)
CpG islands
(count:2077)
Chromatin interactive
region (count:97)
LncRNA
region (count:61)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1503 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:2498207-2498629	K562	blood:	n/a	n/a
2	ARID3A	chr8:2571430-2571701	K562	blood:	n/a	n/a
3	ARID3A	chr8:2569699-2570363	K562	blood:	n/a	n/a
4	ARID3A	chr8:2481567-2481907	K562	blood:	n/a	n/a
5	ARID3A	chr8:2582455-2583099	K562	blood:	n/a	n/a
6	ARID3A	chr8:2422230-2422288	HepG2	liver:	n/a	n/a
7	ATF1	chr8:2321922-2322096	K562	blood:	n/a	n/a
8	ATF1	chr8:2581374-2581475	K562	blood:	n/a	n/a
9	ATF1	chr8:2364197-2364540	K562	blood:	n/a	n/a
10	ATF2	chr8:2556809-2557171	GM12878	blood:	n/a	n/a
11	ATF2	chr8:2511856-2512641	GM12878	blood:	n/a	n/a
12	ATF2	chr8:2556735-2557319	GM12878	blood:	n/a	n/a
13	ATF2	chr8:2511706-2512568	GM12878	blood:	n/a	n/a
14	ATF2	chr8:2575121-2575588	GM12878	blood:	n/a	n/a
15	ATF2	chr8:2575097-2575545	GM12878	blood:	n/a	n/a
16	BACH1	chr8:2480966-2481250	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr8:2476042-2476063	K562	blood:	n/a	n/a
18	BACH1	chr8:2558085-2558096	K562	blood:	n/a	n/a
19	BACH1	chr8:2383091-2383398	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr8:2365267-2365272	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr8:2556819-2557194	GM12878	blood:	n/a	n/a
22	BATF	chr8:2511759-2512659	GM12878	blood:	n/a	n/a
23	BATF	chr8:2577057-2577495	GM12878	blood:	n/a	chr8:2577308-2577319
24	BATF	chr8:2577159-2577434	GM12878	blood:	n/a	chr8:2577308-2577319
25	BATF	chr8:2575165-2575442	GM12878	blood:	n/a	chr8:2575395-2575403
26	BATF	chr8:2575236-2575412	GM12878	blood:	n/a	chr8:2575395-2575403
27	BATF	chr8:2511886-2512235	GM12878	blood:	n/a	n/a
28	BATF	chr8:2556758-2557340	GM12878	blood:	n/a	n/a
29	BCL11A	chr8:2576992-2577351	GM12878	blood:	n/a	n/a
30	BCL11A	chr8:2512018-2512589	GM12878	blood:	n/a	n/a
31	BCL11A	chr8:2511931-2512590	GM12878	blood:	n/a	n/a
32	BCL11A	chr8:2577041-2577262	GM12878	blood:	n/a	n/a
33	BCL11A	chr8:2413234-2413557	GM12878	blood:	n/a	n/a
34	BCL11A	chr8:2556744-2557182	GM12878	blood:	n/a	n/a
35	BCL11A	chr8:2575139-2575457	GM12878	blood:	n/a	n/a
36	BCL3	chr8:2339563-2339921	GM12878	blood:	n/a	n/a
37	BCL3	chr8:2508476-2508796	GM12878	blood:	n/a	n/a
38	BCL3	chr8:2339608-2340114	GM12878	blood:	n/a	n/a
39	BCL3	chr8:2510316-2510701	GM12878	blood:	n/a	n/a
40	BCL3	chr8:2512239-2512646	GM12878	blood:	n/a	n/a
41	BCL3	chr8:2575150-2575417	GM12878	blood:	n/a	n/a
42	BCL3	chr8:2556799-2557285	GM12878	blood:	n/a	n/a
43	BCL3	chr8:2511603-2512224	GM12878	blood:	n/a	chr8:2511913-2511922
44	BCLAF1	chr8:2512301-2512644	GM12878	blood:	n/a	n/a
45	BCLAF1	chr8:2556824-2557149	GM12878	blood:	n/a	n/a
46	BCLAF1	chr8:2511560-2512013	GM12878	blood:	n/a	chr8:2511913-2511922
47	BHLHE40	chr8:2384208-2384255	K562	blood:	n/a	n/a
48	BHLHE40	chr8:2505148-2505486	K562	blood:	n/a	n/a
49	BHLHE40	chr8:2480933-2481231	K562	blood:	n/a	n/a
50	BHLHE40	chr8:2556762-2557433	GM12878	blood:	n/a	n/a

(count:2077 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:2421548-2421598	HCPEpiC	choroid plexus:	n/a
2	chr8:2420061-2420111	HCPEpiC	choroid plexus:	n/a
3	chr8:2363092-2363142	HRE	kidney:	n/a
4	chr8:2421548-2421598	HCPEpiC	choroid plexus:	n/a
5	chr8:2420061-2420111	HCPEpiC	choroid plexus:	n/a
6	chr8:2363092-2363142	HRE	kidney:	n/a
7	chr8:2419444-2419494	NH-A	brain:	n/a
8	chr8:2538249-2538299	AG04449	skin:	fetal
9	chr8:2549080-2549130	Hela-S3	cervix:	n/a
10	chr8:2476682-2476732	GM12892	blood:	n/a
11	chr8:2341971-2342021	HIPEpiC	eye:	n/a
12	chr8:2418143-2418193	PrEC	prostate:	n/a
13	chr8:2483325-2483375	SK-N-MC	brain:	n/a
14	chr8:2341971-2342021	AoSMC	blood vessel:	n/a
15	chr8:2418143-2418193	MCF10A-Er-Src	breast:	n/a
16	chr8:2419444-2419494	GM06990	blood:	n/a
17	chr8:2549080-2549130	HIPEpiC	eye:	n/a
18	chr8:2548901-2548951	HCF	heart:	n/a
19	chr8:2538355-2538405	H1-hESC	embryonic stem cell:	embryo
20	chr8:2549270-2549320	NB4	blood:	n/a
21	chr8:2415717-2415767	HRE	kidney:	n/a
22	chr8:2419444-2419494	PANC-1	pancreas:	n/a
23	chr8:2341828-2341878	GM12891	blood:	n/a
24	chr8:2337492-2337542	IMR90	lung:	fetal
25	chr8:2538355-2538405	HEK293	kidney:	embryo
26	chr8:2419444-2419494	HIPEpiC	eye:	n/a
27	chr8:2538249-2538299	Jurkat	blood:	n/a
28	chr8:2480426-2480476	SK-N-SH	brain:	n/a
29	chr8:2337813-2337863	SK-N-MC	brain:	n/a
30	chr8:2480426-2480476	HL-60	blood:	n/a
31	chr8:2341971-2342021	BE2_C	brain:	n/a
32	chr8:2476682-2476732	HAEpiC	amniotic membrane:	n/a
33	chr8:2341971-2342021	HCPEpiC	choroid plexus:	n/a
34	chr8:2420061-2420111	HPAEpiC	pulmonary alveolar:	n/a
35	chr8:2549080-2549130	SAEC	small airway:	n/a
36	chr8:2363737-2363787	Caco-2	colon:	n/a
37	chr8:2538305-2538355	GM19239	blood:	n/a
38	chr8:2549244-2549294	SK-N-MC	brain:	n/a
39	chr8:2362927-2362977	NHDF-neo	bronchial:	n/a
40	chr8:2538355-2538405	AG04450	lung:	fetal
41	chr8:2480483-2480533	GM06990	blood:	n/a
42	chr8:2538249-2538299	GM12892	blood:	n/a
43	chr8:2418843-2418893	H1-hESC	embryonic stem cell:	embryo
44	chr8:2538305-2538355	PANC-1	pancreas:	n/a
45	chr8:2538305-2538355	HRCEpiC	kidney:	n/a
46	chr8:2419444-2419494	AG10803	skin:	n/a
47	chr8:2418520-2418570	SAEC	small airway:	n/a
48	chr8:2480911-2480961	IMR90	lung:	fetal
49	chr8:2383594-2383644	HCPEpiC	choroid plexus:	n/a
50	chr8:2337813-2337863	HCT-116	colon:	n/a

(count:97 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:2479673..2481639-chr8:2496589..2499424,2	K562	blood:
2	chr8:2506228..2508567-chr8:2527407..2529013,2	K562	blood:
3	chr8:2562242..2563775-chr8:2567486..2569900,2	K562	blood:
4	chr8:2564777..2566535-chr8:2633073..2636041,2	K562	blood:
5	chr8:2544394..2547275-chr8:2569215..2571257,2	K562	blood:
6	chr8:2581583..2583717-chr8:2629779..2632659,2	K562	blood:
7	chr8:2441868..2443502-chr8:2450013..2451632,2	K562	blood:
8	chr8:2439131..2441221-chr8:2443084..2444949,2	K562	blood:
9	chr8:2448991..2451601-chr8:2459383..2460898,2	K562	blood:
10	chr8:2481168..2482894-chr8:2487375..2489303,2	K562	blood:
11	chr8:2522780..2524643-chr8:2526596..2529136,3	K562	blood:
12	chr8:2562242..2563775-chr8:2567486..2569900,2	K562	blood:
13	chr8:2523638..2525296-chr8:2550223..2552955,2	K562	blood:
14	chr8:2510234..2512755-chr8:2514414..2516720,2	K562	blood:
15	chr8:2547306..2548966-chr8:2550083..2551801,2	K562	blood:
16	chr8:2501130..2503173-chr8:2505670..2508486,2	K562	blood:
17	chr8:2034544..2035110-chr8:2312572..2313377,2	MCF-7	breast:
18	chr8:2397933..2400182-chr8:2406392..2408807,2	K562	blood:
19	chr8:2386918..2389888-chr8:2391366..2394177,3	K562	blood:
20	chr8:2469447..2471914-chr8:2476064..2479044,2	K562	blood:
21	chr8:2554533..2557037-chr8:2557281..2558843,2	MCF-7	breast:
22	chr8:2500475..2503387-chr8:2543405..2545432,2	K562	blood:
23	chr8:2486752..2490749-chr8:2493299..2495951,3	K562	blood:
24	chr8:2510133..2511734-chr8:2513835..2516720,2	K562	blood:
25	chr8:2482979..2484810-chr8:2488581..2490699,2	K562	blood:
26	chr8:2499248..2502177-chr8:2672093..2674140,2	K562	blood:
27	chr8:2419689..2421858-chr8:2422895..2425675,3	K562	blood:
28	chr8:2419689..2421858-chr8:2422895..2425675,3	K562	blood:
29	chr8:2527298..2531531-chr8:2571196..2574583,3	K562	blood:
30	chr8:2556595..2559476-chr8:2562170..2563864,2	K562	blood:
31	chr8:2469447..2471789-chr8:2476064..2477860,2	K562	blood:
32	chr8:2426482..2427246-chr8:2671820..2672460,2	MCF-7	breast:
33	chr8:2469447..2471914-chr8:2476064..2479044,2	K562	blood:
34	chr8:2469097..2469662-chr8:2481085..2481734,2	K562	blood:
35	chr8:2569757..2570653-chr8:2671876..2672455,2	K562	blood:
36	chr8:2481168..2482894-chr8:2487375..2489303,2	K562	blood:
37	chr8:2578568..2580077-chr8:2629449..2631121,2	K562	blood:
38	chr8:2578154..2579763-chr8:2619502..2622316,2	K562	blood:
39	chr8:2314242..2315996-chr8:2321501..2323245,2	K562	blood:
40	chr8:2426539..2427338-chr8:3141221..3142157,2	MCF-7	breast:
41	chr8:2507364..2510373-chr8:2511304..2513701,3	K562	blood:
42	chr8:2486752..2490749-chr8:2493299..2495951,3	K562	blood:
43	chr8:2482979..2484978-chr8:2488581..2491856,3	K562	blood:
44	chr8:2522780..2524643-chr8:2526596..2529136,3	K562	blood:
45	chr8:2544394..2547275-chr8:2569215..2571257,2	K562	blood:
46	chr8:2506228..2508567-chr8:2527407..2529013,2	K562	blood:
47	chr8:2314242..2315996-chr8:2321501..2323245,2	K562	blood:
48	chr8:2485717..2487304-chr8:2488828..2491745,2	K562	blood:
49	chr8:2547466..2548999-chr8:2550083..2552313,2	K562	blood:
50	chr8:2563425..2566170-chr8:2680096..2682261,2	K562	blood:

(count:61 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSMD1-1	chr8:2562746-2562808	XLOC_006980
2	lnc-CSMD1-1	chr8:2554056-2554472	XLOC_006980
3	lnc-CSMD1-2	chr8:2453716-2453795	XLOC_006979
4	lnc-CSMD1-3	chr8:2387147-2387293	XLOC_006978
5	lnc-CSMD1-14	chr8:2441571-2442129	NONHSAT124721
6	lnc-CSMD1-1	chr8:2527341-2527521	ENSG00000254319
7	lnc-CSMD1-2	chr8:2461872-2462021	NONHSAT124723
8	lnc-CSMD1-1	chr8:2532238-2532353	ENSG00000254319
9	lnc-CSMD1-1	chr8:2523591-2523700	ENSG00000254319
10	lnc-CSMD1-2	chr8:2452656-2452794	XLOC_006979
11	lnc-CSMD1-2	chr8:2452656-2452794	ENSG00000249694
12	lnc-CSMD1-2	chr8:2480383-2480453	ENSG00000249694
13	lnc-CSMD1-1	chr8:2532238-2532353	ENSG00000254319
14	lnc-CSMD1-2	chr8:2447076-2448337	NONHSAT124723
15	lnc-CSMD1-1	chr8:2562746-2562851	XLOC_006980
16	lnc-CSMD1-2	chr8:2480383-2480453	ENSG00000249694
17	lnc-CSMD1-15	chr8:2467790-2467860	ucscGeneNc_uc003wqa_2
18	lnc-CSMD1-2	chr8:2480383-2480453	XLOC_006979
19	lnc-CSMD1-2	chr8:2452654-2452794	NONHSAT124723
20	lnc-MYOM2-3	chr8:2376124-2376349	ENSG00000253855
21	lnc-CSMD1-15	chr8:2441123-2441202	ucscGeneNc_uc003wqa_2
22	lnc-CSMD1-2	chr8:2453716-2453795	ENSG00000249694
23	lnc-MYOM2-3	chr8:2379067-2379308	ENSG00000253855
24	lnc-CSMD1-2	chr8:2452656-2452791	ENSG00000249694
25	lnc-CSMD1-1	chr8:2579024-2579126	ENSG00000254319
26	lnc-CSMD1-2	chr8:2453716-2453795	ENSG00000249694
27	lnc-CSMD1-2	chr8:2461872-2462021	ENSG00000249694
28	lnc-CSMD1-2	chr8:2453716-2453795	NONHSAT124723
29	lnc-CSMD1-2	chr8:2447076-2448340	ENSG00000249694
30	lnc-CSMD1-1	chr8:2527314-2527521	ENSG00000254319
31	lnc-CSMD1-1	chr8:2554297-2554472	XLOC_006980
32	lnc-CSMD1-4	chr8:2368038-2368185	ENSG00000253444
33	lnc-CSMD1-2	chr8:2447076-2448340	ENSG00000249694
34	lnc-CSMD1-15	chr8:2434485-2435747	ucscGeneNc_uc003wqa_2
35	lnc-MYOM2-9	chr8:2407534-2407710	NONHSAT124719
36	lnc-CSMD1-1	chr8:2532111-2532353	XLOC_006980
37	lnc-CSMD1-1	chr8:2562746-2562817	XLOC_006980
38	lnc-CSMD1-16	chr8:2411325-2411575	NONHSAT124720
39	lnc-CSMD1-1	chr8:2558974-2559395	ENSG00000254319
40	lnc-CSMD1-1	chr8:2536358-2536440	ENSG00000254319
41	lnc-CSMD1-1	chr8:2562746-2562817	ENSG00000254319
42	lnc-CSMD1-3	chr8:2415813-2415857	XLOC_006978
43	lnc-CSMD1-1	chr8:2562746-2562817	ENSG00000254319
44	lnc-CSMD1-12	chr8:2541463-2541879	ucscGeneNc_uc003wqb_1
45	lnc-CSMD1-1	chr8:2532238-2532353	ENSG00000254319
46	lnc-CSMD1-15	chr8:2440063-2440201	ucscGeneNc_uc003wqa_2
47	lnc-CSMD1-12	chr8:2550153-2550224	ucscGeneNc_uc003wqb_1
48	lnc-CSMD1-3	chr8:2413377-2413572	XLOC_006978
49	lnc-CSMD1-1	chr8:2527293-2527521	ENSG00000254319
50	lnc-CSMD1-12	chr8:2573277-2573364	ucscGeneNc_uc003wqb_1

No data

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

Extended variants
information (count: 11295 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:11295 , 50 per page) page: 1 2 3 4 5 6 7 ... 226

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6558654	chr8:2311671-2311672	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372171610	chr8:2311693-2311694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527735640	chr8:2311700-2311701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547582904	chr8:2311704-2311705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567432644	chr8:2311710-2311711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529935068	chr8:2311720-2311721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17754218	chr8:2311721-2311722	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569795471	chr8:2311726-2311727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569949866	chr8:2311727-2311728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115054286	chr8:2311757-2311758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558482585	chr8:2311769-2311770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144886199	chr8:2311780-2311781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534682267	chr8:2311791-2311792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371789808	chr8:2311795-2311796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554267904	chr8:2311808-2311809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555766170	chr8:2311821-2311822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374485915	chr8:2311827-2311828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542800783	chr8:2311836-2311837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182487509	chr8:2311858-2311859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370534052	chr8:2311891-2311892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576668512	chr8:2311906-2311907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113013790	chr8:2311926-2311927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77498790	chr8:2311932-2311933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372000300	chr8:2311955-2311956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377695062	chr8:2311960-2311961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565240619	chr8:2311966-2311967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554961991	chr8:2311968-2311969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6558655	chr8:2311990-2311991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs561346033	chr8:2311996-2311997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191987591	chr8:2312002-2312003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185180969	chr8:2312019-2312020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549991746	chr8:2312033-2312034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569868885	chr8:2312044-2312045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535854176	chr8:2312056-2312057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111327415	chr8:2312066-2312067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200961017	chr8:2312069-2312070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556150934	chr8:2312072-2312073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190460774	chr8:2312073-2312074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147961177	chr8:2312076-2312077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114336013	chr8:2312083-2312084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374064581	chr8:2312088-2312089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114892448	chr8:2312094-2312095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558693391	chr8:2312107-2312108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28642688	chr8:2312109-2312110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7835484	chr8:2312117-2312118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562343169	chr8:2312128-2312129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536801118	chr8:2312139-2312140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556289266	chr8:2312140-2312141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572220940	chr8:2312142-2312143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369334830	chr8:2312165-2312166	Weak transcription Enhancers	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	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
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:691 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2308600-2312200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:2311000-2311800	Enhancers	Fetal Heart	heart
3	chr8:2311600-2311800	Enhancers	Fetal Brain Male	brain
4	chr8:2311800-2312400	Weak transcription	Fetal Brain Male	brain
5	chr8:2312000-2312400	Enhancers	Pancreas	Pancrea
6	chr8:2312400-2313200	Enhancers	Fetal Brain Male	brain
7	chr8:2312400-2314800	Weak transcription	Pancreas	Pancrea
8	chr8:2319200-2319400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:2319200-2320400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:2319200-2320800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:2319400-2319800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:2319600-2320400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:2319800-2320800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:2320800-2321000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:2337000-2337600	Enhancers	Fetal Thymus	thymus
16	chr8:2337200-2337400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:2337400-2339600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:2339600-2340000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:2339800-2340000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr8:2339800-2340000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:2339800-2340000	Enhancers	Pancreas	Pancrea
22	chr8:2339800-2340000	Bivalent Enhancer	K562	blood
23	chr8:2339800-2340200	ZNF genes & repeats	Fetal Kidney	kidney
24	chr8:2340200-2340600	Weak transcription	Fetal Kidney	kidney
25	chr8:2341200-2343000	Weak transcription	Spleen	Spleen
26	chr8:2343000-2343200	Enhancers	Spleen	Spleen
27	chr8:2346400-2351000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:2348200-2349000	Enhancers	Brain Hippocampus Middle	brain
29	chr8:2348400-2349000	Enhancers	Brain Anterior Caudate	brain
30	chr8:2348400-2349000	Enhancers	Brain Cingulate Gyrus	brain
31	chr8:2348400-2349200	Enhancers	Brain Substantia Nigra	brain
32	chr8:2348800-2349200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr8:2350200-2351000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
34	chr8:2352200-2352400	Flanking Bivalent TSS/Enh	Lung	lung
35	chr8:2352400-2352800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:2352400-2353000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:2353000-2353600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:2353600-2353800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:2353600-2353800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:2354400-2354600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:2357800-2359000	Enhancers	Primary T cells fromperipheralblood	blood
42	chr8:2358000-2360800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr8:2358000-2360800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr8:2358000-2360800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr8:2358200-2359200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr8:2358200-2360200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr8:2358200-2360400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr8:2358400-2358600	Enhancers	Gastric	stomach
49	chr8:2358400-2358800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:2358400-2360600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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