Variant report

Variant	nsv1017174
Chromosome Location	chr6:2213893-2340529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1105)
CpG islands
(count:979)
Chromatin interactive
region (count:59)
LncRNA
region (count:101)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1105 , 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	chr6:2245615-2246925	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:2259148-2259912	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:2293538-2293631	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:2225591-2227334	HepG2	liver:	n/a	n/a
5	ATF1	chr6:2245737-2246654	K562	blood:	n/a	n/a
6	ATF2	chr6:2232560-2233069	GM12878	blood:	n/a	n/a
7	ATF3	chr6:2245728-2246033	K562	blood:	n/a	chr6:2245730-2245744 chr6:2245844-2245853
8	BACH1	chr6:2245130-2245916	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr6:2271489-2271498	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL11A	chr6:2310374-2310685	GM12878	blood:	n/a	n/a
11	BCLAF1	chr6:2245572-2246352	GM12878	blood:	n/a	chr6:2245880-2245893 chr6:2245888-2245901
12	BHLHE40	chr6:2275952-2276150	K562	blood:	n/a	chr6:2276045-2276054 chr6:2276045-2276054
13	BHLHE40	chr6:2245104-2246828	HepG2	liver:	n/a	chr6:2245835-2245851 chr6:2246639-2246655
14	BHLHE40	chr6:2245113-2246812	K562	blood:	n/a	chr6:2245835-2245851 chr6:2246639-2246655
15	BHLHE40	chr6:2246336-2246701	GM12878	blood:	n/a	chr6:2246639-2246655
16	BHLHE40	chr6:2255758-2255989	K562	blood:	n/a	n/a
17	BHLHE40	chr6:2245136-2246123	GM12878	blood:	n/a	chr6:2245835-2245851
18	BHLHE40	chr6:2251462-2251463	K562	blood:	n/a	n/a
19	BRCA1	chr6:2245877-2245928	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr6:2245737-2246792	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr6:2316936-2316962	GM12878	blood:	n/a	n/a
22	BRCA1	chr6:2246545-2246820	HepG2	liver:	n/a	n/a
23	BRCA1	chr6:2243909-2244064	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr6:2245211-2245256	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr6:2246100-2246260	GM12878	blood:	n/a	n/a
26	BRCA1	chr6:2237262-2237709	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr6:2245076-2245334	HepG2	liver:	n/a	n/a
28	BRCA1	chr6:2245739-2246147	HepG2	liver:	n/a	n/a
29	CBX3	chr6:2327861-2328152	K562	blood:	n/a	n/a
30	CBX3	chr6:2327854-2328217	HCT-116	colon:	n/a	n/a
31	CBX3	chr6:2327866-2328132	K562	blood:	n/a	n/a
32	CCNT2	chr6:2245443-2246189	K562	blood:	n/a	n/a
33	CCNT2	chr6:2246532-2246685	K562	blood:	n/a	n/a
34	CEBPB	chr6:2265213-2265499	IMR90	lung:	n/a	n/a
35	CEBPB	chr6:2229322-2229594	K562	blood:	n/a	chr6:2229449-2229466 chr6:2229347-2229355
36	CEBPB	chr6:2222588-2222788	HepG2	liver:	n/a	chr6:2222686-2222697 chr6:2222686-2222695
37	CEBPB	chr6:2266000-2266040	A549	lung:	n/a	n/a
38	CEBPB	chr6:2229275-2229615	HepG2	liver:	n/a	chr6:2229449-2229466 chr6:2229347-2229355
39	CEBPB	chr6:2222541-2222779	H1-hESC	embryonic stem cell:	n/a	chr6:2222686-2222697 chr6:2222686-2222695
40	CEBPB	chr6:2265928-2266166	HepG2	liver:	n/a	n/a
41	CEBPB	chr6:2238486-2238640	HepG2	liver:	n/a	chr6:2238567-2238578
42	CEBPB	chr6:2221592-2221716	HepG2	liver:	n/a	chr6:2221670-2221681
43	CEBPB	chr6:2225819-2226070	Hela-S3	cervix:	n/a	chr6:2225945-2225956 chr6:2225947-2225958 chr6:2225945-2225958 chr6:2225947-2225958 chr6:2225945-2225958
44	CEBPB	chr6:2229270-2229616	IMR90	lung:	n/a	chr6:2229449-2229466 chr6:2229347-2229355
45	CEBPB	chr6:2229443-2229537	H1-hESC	embryonic stem cell:	n/a	chr6:2229449-2229466
46	CEBPB	chr6:2246431-2246764	HepG2	liver:	n/a	n/a
47	CEBPB	chr6:2229295-2229626	Hela-S3	cervix:	n/a	chr6:2229449-2229466 chr6:2229347-2229355
48	CEBPB	chr6:2312349-2312530	IMR90	lung:	n/a	chr6:2312399-2312410
49	CEBPB	chr6:2243882-2244182	K562	blood:	n/a	chr6:2244025-2244036 chr6:2244027-2244036 chr6:2244026-2244037 chr6:2244025-2244038
50	CEBPB	chr6:2225679-2226224	HepG2	liver:	n/a	chr6:2225945-2225956 chr6:2225947-2225958 chr6:2225945-2225958 chr6:2225947-2225958 chr6:2225945-2225958

(count:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:2245854-2245904	NHBE	bronchial:	n/a
2	chr6:2245749-2245799	U87	brain:	n/a
3	chr6:2237336-2237386	HMEC	breast:	n/a
4	chr6:2245854-2245904	NHBE	bronchial:	n/a
5	chr6:2245749-2245799	U87	brain:	n/a
6	chr6:2237336-2237386	HMEC	breast:	n/a
7	chr6:2223643-2223693	AG04449	skin:	fetal
8	chr6:2245854-2245904	SK-N-SH_RA	brain:	n/a
9	chr6:2245854-2245904	AG10803	skin:	n/a
10	chr6:2245749-2245799	SK-N-SH_RA	brain:	n/a
11	chr6:2297047-2297097	AG09319	gingival:	n/a
12	chr6:2266427-2266477	Hela-S3	cervix:	n/a
13	chr6:2297047-2297097	HEEpiC	esophagus:	n/a
14	chr6:2246152-2246202	Jurkat	blood:	n/a
15	chr6:2242748-2242798	NB4	blood:	n/a
16	chr6:2223643-2223693	SK-N-SH	brain:	n/a
17	chr6:2266427-2266477	H1-hESC	embryonic stem cell:	embryo
18	chr6:2297047-2297097	GM12891	blood:	n/a
19	chr6:2237336-2237386	AG09319	gingival:	n/a
20	chr6:2297047-2297097	K562	blood:	n/a
21	chr6:2245849-2245899	HCM	heart:	n/a
22	chr6:2246553-2246603	AG09319	gingival:	n/a
23	chr6:2245854-2245904	Jurkat	blood:	n/a
24	chr6:2237336-2237386	HL-60	blood:	n/a
25	chr6:2245854-2245904	GM12892	blood:	n/a
26	chr6:2246553-2246603	ovcar-3	ovarian:	n/a
27	chr6:2242748-2242798	PANC-1	pancreas:	n/a
28	chr6:2245854-2245904	ECC-1	luminal epithelium:	n/a
29	chr6:2246077-2246127	HEEpiC	esophagus:	n/a
30	chr6:2245854-2245904	HCM	heart:	n/a
31	chr6:2242748-2242798	Caco-2	colon:	n/a
32	chr6:2244766-2244816	SK-N-SH	brain:	n/a
33	chr6:2248207-2248257	SK-N-SH_RA	brain:	n/a
34	chr6:2230313-2230363	HUVEC	blood vessel:	n/a
35	chr6:2245854-2245904	Caco-2	colon:	n/a
36	chr6:2297047-2297097	Caco-2	colon:	n/a
37	chr6:2245854-2245904	AG04449	skin:	fetal
38	chr6:2245749-2245799	AG10803	skin:	n/a
39	chr6:2246152-2246202	NHDF-neo	bronchial:	n/a
40	chr6:2246077-2246127	AG04450	lung:	fetal
41	chr6:2223643-2223693	K562	blood:	n/a
42	chr6:2246152-2246202	NT2-D1	testis:	n/a
43	chr6:2244766-2244816	BE2_C	brain:	n/a
44	chr6:2246553-2246603	PrEC	prostate:	n/a
45	chr6:2246062-2246112	HAEpiC	amniotic membrane:	n/a
46	chr6:2245849-2245899	GM12878	blood:	n/a
47	chr6:2246152-2246202	IMR90	lung:	fetal
48	chr6:2245327-2245377	AG04450	lung:	fetal
49	chr6:2246152-2246202	CMK	blood:	n/a
50	chr6:2245327-2245377	HIPEpiC	eye:	n/a

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:2248443..2250050-chr6:2251800..2254441,2	MCF-7	breast:
2	chr6:2239677..2242636-chr6:2266215..2268461,2	K562	blood:
3	chr6:2232725..2235057-chr6:2241129..2244021,2	MCF-7	breast:
4	chr6:2244284..2247491-chr6:2247756..2249566,3	K562	blood:
5	chr6:2244284..2246271-chr6:2246300..2249565,3	K562	blood:
6	chr6:2245971..2248921-chr6:2250895..2252497,2	K562	blood:
7	chr6:2245961..2247714-chr7:148785779..148788707,2	MCF-7	breast:
8	chr6:2235011..2238207-chr6:2241335..2245707,5	K562	blood:
9	chr6:2226252..2228883-chr6:2229316..2232296,2	MCF-7	breast:
10	chr6:1554542..1557319-chr6:2236589..2238217,2	MCF-7	breast:
11	chr6:2229616..2232069-chr6:2244990..2246966,2	MCF-7	breast:
12	chr6:2244795..2247987-chr6:2252764..2255818,5	MCF-7	breast:
13	chr6:2241705..2244188-chr6:2244714..2246548,2	MCF-7	breast:
14	chr6:2271315..2274254-chr6:2275428..2277521,2	K562	blood:
15	chr6:2231926..2234637-chr6:2242249..2244795,3	MCF-7	breast:
16	chr6:2218001..2220077-chr6:2245125..2247040,2	K562	blood:
17	chr6:2209920..2212412-chr6:2215511..2218322,2	MCF-7	breast:
18	chr6:2225998..2228702-chr6:2230622..2232847,2	MCF-7	breast:
19	chr6:2241571..2243321-chr6:2248990..2251282,2	MCF-7	breast:
20	chr6:2263398..2266340-chr6:2266756..2269445,2	K562	blood:
21	chr6:2222298..2224652-chr6:2235622..2237446,2	MCF-7	breast:
22	chr6:2259328..2261334-chr6:2262828..2265000,2	MCF-7	breast:
23	chr6:2223748..2225261-chr6:2229419..2232033,2	K562	blood:
24	chr6:2249021..2251510-chr6:2257957..2260606,2	MCF-7	breast:
25	chr6:2239677..2242636-chr6:2266215..2268461,2	K562	blood:
26	chr6:1608353..1611335-chr6:2245492..2248463,2	MCF-7	breast:
27	chr6:2240186..2242640-chr6:2244127..2247003,3	K562	blood:
28	chr6:2232725..2235057-chr6:2241129..2244021,2	MCF-7	breast:
29	chr17:56707904..56710357-chr6:2244331..2245870,2	MCF-7	breast:
30	chr6:2250207..2252931-chr6:2253285..2256060,3	K562	blood:
31	chr6:2250207..2252931-chr6:2253285..2256060,3	K562	blood:
32	chr6:2235011..2238207-chr6:2241335..2245707,5	K562	blood:
33	chr6:2235665..2237957-chr6:2241692..2244945,3	K562	blood:
34	chr3:52321502..52322345-chr6:2245845..2246762,2	Hela-S3	cervix:
35	chr6:2259328..2261334-chr6:2262828..2265000,2	MCF-7	breast:
36	chr6:2226252..2228883-chr6:2229316..2232296,2	MCF-7	breast:
37	chr6:2248443..2250050-chr6:2251800..2254441,2	MCF-7	breast:
38	chr6:2249021..2251510-chr6:2257957..2260606,2	MCF-7	breast:
39	chr6:2223759..2225696-chr6:2243552..2246152,2	MCF-7	breast:
40	chr6:2218011..2220266-chr6:2224159..2226016,2	K562	blood:
41	chr6:2244435..2247412-chr6:2262335..2264003,2	MCF-7	breast:
42	chr6:2223748..2225261-chr6:2229419..2232033,2	K562	blood:
43	chr6:2232433..2234577-chr6:2244238..2247011,2	K562	blood:
44	chr6:2225998..2228702-chr6:2230622..2232847,2	MCF-7	breast:
45	chr6:2218011..2220266-chr6:2224159..2226016,2	K562	blood:
46	chr6:2237184..2240697-chr6:2242181..2246031,5	MCF-7	breast:
47	chr5:180650449..180651104-chr6:2245494..2246192,2	NB4	blood:
48	chr6:2217534..2219085-chr6:2231470..2233628,2	MCF-7	breast:
49	chr6:2263398..2266340-chr6:2266756..2269445,2	K562	blood:
50	chr6:2231926..2234637-chr6:2242249..2244795,3	MCF-7	breast:

(count:101 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRNIP1-2	chr6:2249071-2249160	NONHSAT106620
2	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
3	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
4	lnc-GMDS-1	chr6:2272911-2272931	XLOC_005578
5	lnc-WRNIP1-2	chr6:2246032-2246164	XLOC_005126
6	lnc-WRNIP1-37	chr6:2320666-2321867	NONHSAT106644
7	lnc-WRNIP1-2	chr6:2329517-2329638	ENSG00000250903
8	lnc-WRNIP1-2	chr6:2246028-2246164	XLOC_005126
9	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
10	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
11	lnc-WRNIP1-38	chr6:2232817-2233730	NONHSAT106615
12	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
13	lnc-GMDS-5	chr6:2273579-2273651	NONHSAT106634
14	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
15	lnc-WRNIP1-39	chr6:2228732-2229007	ucscGeneNc_uc003mts_1
16	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
17	lnc-WRNIP1-2	chr6:2306527-2306760	ENSG00000250903
18	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
19	lnc-GMDS-5	chr6:2271947-2272620	NONHSAT106634
20	lnc-GMDS-5	chr6:2259533-2260309	NONHSAT106634
21	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
22	lnc-WRNIP1-37	chr6:2319163-2319472	NONHSAT106644
23	lnc-WRNIP1-2	chr6:2306434-2306439	XLOC_005126
24	lnc-WRNIP1-2	chr6:2246059-2246164	ENSG00000250903
25	lnc-WRNIP1-2	chr6:2249071-2249160	NONHSAT106627
26	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
27	lnc-WRNIP1-3	chr6:2244111-2245348	ENSG00000246005
28	lnc-WRNIP1-3	chr6:2245771-2245808	ENSG00000246005
29	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
30	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
31	lnc-WRNIP1-2	chr6:2246033-2246164	XLOC_005126
32	lnc-WRNIP1-2	chr6:2263835-2263918	NONHSAT106627
33	lnc-WRNIP1-2	chr6:2245987-2246164	NONHSAT106620
34	lnc-WRNIP1-2	chr6:2283733-2284008	ENSG00000250903
35	lnc-WRNIP1-2	chr6:2246002-2246164	ENSG00000250903
36	lnc-WRNIP1-2	chr6:2249130-2249160	XLOC_005126
37	lnc-WRNIP1-37	chr6:2319278-2323435	NONHSAT106643
38	lnc-WRNIP1-2	chr6:2283767-2283997	NONHSAT106637
39	lnc-WRNIP1-2	chr6:2246089-2246164	ENSG00000250903
40	lnc-WRNIP1-37	chr6:2319163-2324833	NONHSAT106645
41	lnc-WRNIP1-38	chr6:2232817-2233509	NONHSAT106616
42	lnc-WRNIP1-2	chr6:2246011-2246164	ENSG00000250903
43	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
44	lnc-WRNIP1-2	chr6:2269932-2270247	ENSG00000250903
45	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
46	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
47	lnc-WRNIP1-2	chr6:2283733-2283997	XLOC_005126
48	lnc-WRNIP1-2	chr6:2283733-2283997	XLOC_005126
49	lnc-GMDS-5	chr6:2271891-2271926	NONHSAT106634
50	lnc-WRNIP1-2	chr6:2246016-2246164	ENSG00000250903

No data

Variant related genes	Relation type
GMDS-AS1	TF binding region
HMGN2P28	TF binding region
GMDS	TF binding region
GMDS-AS1	CpG island
HMGN2P28	CpG island
GMDS	CpG island
ENSG00000197362	chromatin interactions
ENSG00000164091	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000250903	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000054598	chromatin interactions
ENSG00000112699	chromatin interactions
ENSG00000168237	chromatin interactions
PCBP2	miRNA target sites
PICALM	miRNA target sites
TRIB3	miRNA target sites
SLC19A2	miRNA target sites
KCTD10	miRNA target sites
CDK4	miRNA target sites
VAMP3	miRNA target sites
LMNA	miRNA target sites
ATXN7L3	miRNA target sites
BMPR2	miRNA target sites
DCAF8	miRNA target sites
ATXN7L1	miRNA target sites
LYRM7	miRNA target sites
ARL4A	miRNA target sites
MYCN	miRNA target sites
PCNT	miRNA target sites
SMAD4	miRNA target sites
GPR172A	miRNA target sites
NR5A2	miRNA target sites
LRRC2	miRNA target sites
NR3C1	miRNA target sites
RAB13	miRNA target sites
FAM82A2	miRNA target sites
RGS17	miRNA target sites
SC5DL	miRNA target sites
PAPOLA	miRNA target sites
STX7	miRNA target sites
BIRC6	miRNA target sites
SPCS3	miRNA target sites
CLIP1	miRNA target sites
GSTK1	miRNA target sites
IRF5	miRNA target sites
B3GNT2	miRNA target sites
CDK2	miRNA target sites

Extended variants
information (count: 4779 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:4779 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190057986	chr6:2213908-2213909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571134345	chr6:2213921-2213922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576754767	chr6:2213930-2213931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs234921	chr6:2213963-2213964	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182283563	chr6:2213966-2213967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576216626	chr6:2213978-2213979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60802170	chr6:2213993-2213994	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148067423	chr6:2214017-2214018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185577092	chr6:2214048-2214049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6909871	chr6:2214109-2214110	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141620575	chr6:2214131-2214132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150520312	chr6:2214134-2214135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139513856	chr6:2214146-2214147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568968030	chr6:2214152-2214153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376439867	chr6:2214157-2214158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548305530	chr6:2214199-2214200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568544893	chr6:2214240-2214241	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542316075	chr6:2214248-2214249	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554169124	chr6:2214293-2214294	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571129492	chr6:2214342-2214343	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114387441	chr6:2214345-2214346	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556212728	chr6:2214437-2214438	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144258852	chr6:2214457-2214458	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560058849	chr6:2214503-2214504	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541923551	chr6:2214507-2214508	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113820676	chr6:2214529-2214530	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28588249	chr6:2214540-2214541	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs140050777	chr6:2214568-2214569	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564179533	chr6:2214575-2214576	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533265237	chr6:2214579-2214580	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545756354	chr6:2214591-2214592	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9501818	chr6:2214632-2214633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545601058	chr6:2214665-2214666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531631076	chr6:2214724-2214725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548267760	chr6:2214760-2214761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568588484	chr6:2214771-2214772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376370050	chr6:2214799-2214800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565516182	chr6:2214841-2214842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374740928	chr6:2214880-2214881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62392603	chr6:2214888-2214889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145580101	chr6:2214892-2214893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73420758	chr6:2214910-2214911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11752351	chr6:2214933-2214934	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs145396717	chr6:2214979-2214980	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs188129288	chr6:2214996-2214997	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs556922542	chr6:2215042-2215043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12215717	chr6:2215067-2215068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs74735273	chr6:2215105-2215106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555166185	chr6:2215125-2215126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572109477	chr6:2215224-2215225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Uveal melanoma	20484589	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:2395 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2192800-2222000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:2193800-2216800	Weak transcription	Gastric	stomach
3	chr6:2197400-2222000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:2207000-2222000	Weak transcription	Fetal Intestine Small	intestine
5	chr6:2208400-2222000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:2209800-2214600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:2210000-2217000	Weak transcription	Stomach Mucosa	stomach
8	chr6:2212600-2222200	Weak transcription	Aorta	Aorta
9	chr6:2213200-2214200	Enhancers	HepG2	liver
10	chr6:2213600-2214200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:2213600-2214200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:2213600-2214400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:2213800-2214000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr6:2213800-2214000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:2213800-2214000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:2214000-2222200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:2214000-2222400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:2214200-2214600	Genic enhancers	HepG2	liver
19	chr6:2214200-2216600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:2214200-2217200	Weak transcription	Pancreas	Pancrea
21	chr6:2214400-2222200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:2214600-2216800	Weak transcription	HepG2	liver
23	chr6:2215600-2215800	Enhancers	Ovary	ovary
24	chr6:2215800-2222000	Weak transcription	Ovary	ovary
25	chr6:2216000-2222000	Weak transcription	Left Ventricle	heart
26	chr6:2216600-2217000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:2216600-2217400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:2216800-2217000	Bivalent Enhancer	Fetal Lung	lung
29	chr6:2216800-2217400	Enhancers	Gastric	stomach
30	chr6:2216800-2217600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr6:2216800-2219400	Enhancers	HepG2	liver
32	chr6:2217000-2217200	Enhancers	Small Intestine	intestine
33	chr6:2217000-2217200	Enhancers	Stomach Mucosa	stomach
34	chr6:2217000-2217400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:2217000-2217400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:2217000-2221400	Weak transcription	Hela-S3	cervix
37	chr6:2217200-2217400	Enhancers	Lung	lung
38	chr6:2217200-2217600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:2217200-2217600	Weak transcription	Stomach Mucosa	stomach
40	chr6:2217200-2218400	Enhancers	Pancreas	Pancrea
41	chr6:2217200-2222000	Weak transcription	Small Intestine	intestine
42	chr6:2217400-2220600	Weak transcription	Gastric	stomach
43	chr6:2217400-2222200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:2217400-2222400	Weak transcription	Lung	lung
45	chr6:2217400-2231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:2217400-2231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:2217600-2218200	Enhancers	Stomach Mucosa	stomach
48	chr6:2217600-2222000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr6:2217600-2222000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:2217600-2222400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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