Variant report

Variant	nsv1033201
Chromosome Location	chr6:2218647-2308518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1045)
CpG islands
(count:976)
Chromatin interactive
region (count:58)
LncRNA
region (count:90)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1045 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:2225591-2227334	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:2245615-2246925	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:2259148-2259912	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:2293538-2293631	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	BCLAF1	chr6:2245572-2246352	GM12878	blood:	n/a	chr6:2245880-2245893 chr6:2245888-2245901
11	BHLHE40	chr6:2255758-2255989	K562	blood:	n/a	n/a
12	BHLHE40	chr6:2251462-2251463	K562	blood:	n/a	n/a
13	BHLHE40	chr6:2246336-2246701	GM12878	blood:	n/a	chr6:2246639-2246655
14	BHLHE40	chr6:2245113-2246812	K562	blood:	n/a	chr6:2245835-2245851 chr6:2246639-2246655
15	BHLHE40	chr6:2245136-2246123	GM12878	blood:	n/a	chr6:2245835-2245851
16	BHLHE40	chr6:2275952-2276150	K562	blood:	n/a	chr6:2276045-2276054 chr6:2276045-2276054
17	BHLHE40	chr6:2245104-2246828	HepG2	liver:	n/a	chr6:2245835-2245851 chr6:2246639-2246655
18	BRCA1	chr6:2245877-2245928	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr6:2246545-2246820	HepG2	liver:	n/a	n/a
20	BRCA1	chr6:2245737-2246792	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr6:2245211-2245256	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr6:2245076-2245334	HepG2	liver:	n/a	n/a
23	BRCA1	chr6:2243909-2244064	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr6:2246100-2246260	GM12878	blood:	n/a	n/a
25	BRCA1	chr6:2237262-2237709	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr6:2245739-2246147	HepG2	liver:	n/a	n/a
27	CCNT2	chr6:2246532-2246685	K562	blood:	n/a	n/a
28	CCNT2	chr6:2245443-2246189	K562	blood:	n/a	n/a
29	CEBPB	chr6:2238486-2238640	HepG2	liver:	n/a	chr6:2238567-2238578
30	CEBPB	chr6:2222550-2222855	HepG2	liver:	n/a	chr6:2222686-2222697 chr6:2222686-2222695
31	CEBPB	chr6:2229389-2229527	A549	lung:	n/a	chr6:2229449-2229466
32	CEBPB	chr6:2229275-2229615	HepG2	liver:	n/a	chr6:2229449-2229466 chr6:2229347-2229355
33	CEBPB	chr6:2237304-2237665	IMR90	lung:	n/a	n/a
34	CEBPB	chr6:2259227-2259544	HepG2	liver:	n/a	n/a
35	CEBPB	chr6:2222541-2222779	H1-hESC	embryonic stem cell:	n/a	chr6:2222686-2222697 chr6:2222686-2222695
36	CEBPB	chr6:2222618-2222768	A549	lung:	n/a	chr6:2222686-2222697 chr6:2222686-2222695
37	CEBPB	chr6:2221534-2221734	H1-hESC	embryonic stem cell:	n/a	chr6:2221670-2221681
38	CEBPB	chr6:2229443-2229537	H1-hESC	embryonic stem cell:	n/a	chr6:2229449-2229466
39	CEBPB	chr6:2221592-2221716	HepG2	liver:	n/a	chr6:2221670-2221681
40	CEBPB	chr6:2243873-2244156	IMR90	lung:	n/a	chr6:2244025-2244036 chr6:2244027-2244036 chr6:2244026-2244037 chr6:2244025-2244038
41	CEBPB	chr6:2266000-2266040	A549	lung:	n/a	n/a
42	CEBPB	chr6:2225688-2226146	HepG2	liver:	n/a	chr6:2225945-2225956 chr6:2225947-2225958 chr6:2225945-2225958 chr6:2225947-2225958 chr6:2225945-2225958
43	CEBPB	chr6:2246431-2246764	HepG2	liver:	n/a	n/a
44	CEBPB	chr6:2265213-2265499	IMR90	lung:	n/a	n/a
45	CEBPB	chr6:2243871-2244190	Hela-S3	cervix:	n/a	chr6:2244025-2244036 chr6:2244027-2244036 chr6:2244026-2244037 chr6:2244025-2244038
46	CEBPB	chr6:2229322-2229594	K562	blood:	n/a	chr6:2229449-2229466 chr6:2229347-2229355
47	CEBPB	chr6:2243882-2244182	K562	blood:	n/a	chr6:2244025-2244036 chr6:2244027-2244036 chr6:2244026-2244037 chr6:2244025-2244038
48	CEBPB	chr6:2259202-2259439	HepG2	liver:	n/a	n/a
49	CEBPB	chr6:2237243-2237671	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr6:2243905-2244121	A549	lung:	n/a	chr6:2244025-2244036 chr6:2244027-2244036 chr6:2244026-2244037 chr6:2244025-2244038

(count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:2246553-2246603	HRE	kidney:	n/a
2	chr6:2245749-2245799	RPTEC	kidney:	n/a
3	chr6:2248207-2248257	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:2246553-2246603	HRCEpiC	kidney:	n/a
5	chr6:2245854-2245904	ProgFib	skin:	n/a
6	chr6:2246062-2246112	NHBE	bronchial:	n/a
7	chr6:2266427-2266477	A549	lung:	n/a
8	chr6:2237336-2237386	AG09319	gingival:	n/a
9	chr6:2230313-2230363	MCF-7	breast:	n/a
10	chr6:2245854-2245904	HepG2	liver:	n/a
11	chr6:2248207-2248257	GM12892	blood:	n/a
12	chr6:2246553-2246603	RPTEC	kidney:	n/a
13	chr6:2248207-2248257	NHDF-neo	bronchial:	n/a
14	chr6:2246152-2246202	Caco-2	colon:	n/a
15	chr6:2245749-2245799	SK-N-SH	brain:	n/a
16	chr6:2246553-2246603	ovcar-3	ovarian:	n/a
17	chr6:2230313-2230363	HRPEpiC	eye:	n/a
18	chr6:2245854-2245904	HRE	kidney:	n/a
19	chr6:2244766-2244816	GM06990	blood:	n/a
20	chr6:2246077-2246127	HRCEpiC	kidney:	n/a
21	chr6:2246553-2246603	SK-N-SH	brain:	n/a
22	chr6:2246062-2246112	K562	blood:	n/a
23	chr6:2244766-2244816	HepG2	liver:	n/a
24	chr6:2246152-2246202	NH-A	brain:	n/a
25	chr6:2242748-2242798	ProgFib	skin:	n/a
26	chr6:2297047-2297097	AG09319	gingival:	n/a
27	chr6:2245327-2245377	ovcar-3	ovarian:	n/a
28	chr6:2230313-2230363	GM12878	blood:	n/a
29	chr6:2245327-2245377	GM12878	blood:	n/a
30	chr6:2245854-2245904	HCPEpiC	choroid plexus:	n/a
31	chr6:2244766-2244816	HL-60	blood:	n/a
32	chr6:2245854-2245904	AG09309	skin:	n/a
33	chr6:2246062-2246112	IMR90	lung:	fetal
34	chr6:2246077-2246127	NH-A	brain:	n/a
35	chr6:2246062-2246112	H1-hESC	embryonic stem cell:	embryo
36	chr6:2246553-2246603	MCF10A-Er-Src	breast:	n/a
37	chr6:2230313-2230363	HepG2	liver:	n/a
38	chr6:2246553-2246603	HPAEpiC	pulmonary alveolar:	n/a
39	chr6:2245849-2245899	H1-hESC	embryonic stem cell:	embryo
40	chr6:2223643-2223693	NT2-D1	testis:	n/a
41	chr6:2297047-2297097	PFSK-1	brain:	n/a
42	chr6:2248207-2248257	HL-60	blood:	n/a
43	chr6:2245849-2245899	HMEC	breast:	n/a
44	chr6:2246553-2246603	NHBE	bronchial:	n/a
45	chr6:2223643-2223693	CMK	blood:	n/a
46	chr6:2246077-2246127	HCM	heart:	n/a
47	chr6:2223643-2223693	HCT-116	colon:	n/a
48	chr6:2244766-2244816	SK-N-SH_RA	brain:	n/a
49	chr6:2266427-2266477	T-47D	breast:	n/a
50	chr6:2245749-2245799	SAEC	small airway:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:2225998..2228702-chr6:2230622..2232847,2	MCF-7	breast:
2	chr6:2271315..2274254-chr6:2275428..2277521,2	K562	blood:
3	chr6:2263398..2266340-chr6:2266756..2269445,2	K562	blood:
4	chr6:2222298..2224652-chr6:2235622..2237446,2	MCF-7	breast:
5	chr6:2237184..2240697-chr6:2242181..2246031,5	MCF-7	breast:
6	chr6:2223748..2225261-chr6:2229419..2232033,2	K562	blood:
7	chr6:2250207..2252931-chr6:2253285..2256060,3	K562	blood:
8	chr6:2235011..2238207-chr6:2241335..2245707,5	K562	blood:
9	chr6:2245961..2247714-chr7:148785779..148788707,2	MCF-7	breast:
10	chr6:2225998..2228702-chr6:2230622..2232847,2	MCF-7	breast:
11	chr6:2232433..2234293-chr6:2243795..2247011,3	K562	blood:
12	chr6:2237675..2240301-chr6:2244891..2246536,2	MCF-7	breast:
13	chr17:56707904..56710357-chr6:2244331..2245870,2	MCF-7	breast:
14	chr6:2244795..2247987-chr6:2252764..2255818,5	MCF-7	breast:
15	chr6:2259328..2261334-chr6:2262828..2265000,2	MCF-7	breast:
16	chr6:2248443..2250050-chr6:2251800..2254441,2	MCF-7	breast:
17	chr5:180650449..180651104-chr6:2245494..2246192,2	NB4	blood:
18	chr6:2244284..2247491-chr6:2247756..2249566,3	K562	blood:
19	chr6:2249021..2251510-chr6:2257957..2260606,2	MCF-7	breast:
20	chr6:2222298..2224652-chr6:2235622..2237446,2	MCF-7	breast:
21	chr6:2226252..2228883-chr6:2229316..2232296,2	MCF-7	breast:
22	chr6:2232725..2235057-chr6:2241129..2244021,2	MCF-7	breast:
23	chr6:2244435..2247412-chr6:2262335..2264003,2	MCF-7	breast:
24	chr6:2218011..2220266-chr6:2224159..2226016,2	K562	blood:
25	chr6:2271315..2274254-chr6:2275428..2277521,2	K562	blood:
26	chr6:2218001..2220077-chr6:2245125..2247040,2	K562	blood:
27	chr6:2232725..2235057-chr6:2241129..2244021,2	MCF-7	breast:
28	chr6:2217534..2219085-chr6:2231470..2233628,2	MCF-7	breast:
29	chr6:2241571..2243321-chr6:2248990..2251282,2	MCF-7	breast:
30	chr6:2241705..2244188-chr6:2244714..2246548,2	MCF-7	breast:
31	chr6:2249021..2251510-chr6:2257957..2260606,2	MCF-7	breast:
32	chr6:2232433..2234577-chr6:2244238..2247011,2	K562	blood:
33	chr6:2235011..2238207-chr6:2241335..2245707,5	K562	blood:
34	chr6:2244284..2246271-chr6:2246300..2249565,3	K562	blood:
35	chr6:2235665..2237957-chr6:2241692..2244945,3	K562	blood:
36	chr6:2245971..2248921-chr6:2250895..2252497,2	K562	blood:
37	chr6:1554542..1557319-chr6:2236589..2238217,2	MCF-7	breast:
38	chr6:2223759..2225696-chr6:2243552..2246152,2	MCF-7	breast:
39	chr6:2239677..2242636-chr6:2266215..2268461,2	K562	blood:
40	chr6:2223748..2225261-chr6:2229419..2232033,2	K562	blood:
41	chr6:2231926..2234637-chr6:2242249..2244795,3	MCF-7	breast:
42	chr3:52321502..52322345-chr6:2245845..2246762,2	Hela-S3	cervix:
43	chr6:2259328..2261334-chr6:2262828..2265000,2	MCF-7	breast:
44	chr6:2263398..2266340-chr6:2266756..2269445,2	K562	blood:
45	chr6:2226252..2228883-chr6:2229316..2232296,2	MCF-7	breast:
46	chr6:2239677..2242636-chr6:2266215..2268461,2	K562	blood:
47	chr6:2250207..2252931-chr6:2253285..2256060,3	K562	blood:
48	chr6:2235665..2237957-chr6:2241692..2244945,3	K562	blood:
49	chr6:2218011..2220266-chr6:2224159..2226016,2	K562	blood:
50	chr6:2240186..2242640-chr6:2244127..2247003,3	K562	blood:

(count:90 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
2	lnc-WRNIP1-3	chr6:2244111-2245348	ENSG00000246005
3	lnc-WRNIP1-2	chr6:2245982-2246164	ENSG00000250903
4	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
5	lnc-WRNIP1-2	chr6:2306527-2306760	ENSG00000250903
6	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
7	lnc-WRNIP1-2	chr6:2269932-2270033	XLOC_005126
8	lnc-WRNIP1-2	chr6:2246016-2246164	ENSG00000250903
9	lnc-GMDS-5	chr6:2271947-2272620	NONHSAT106634
10	lnc-WRNIP1-2	chr6:2306434-2306439	XLOC_005126
11	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
12	lnc-GMDS-5	chr6:2271891-2271926	NONHSAT106634
13	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
14	lnc-WRNIP1-2	chr6:2246060-2246164	XLOC_005126
15	lnc-WRNIP1-2	chr6:2272050-2273651	ENSG00000250903
16	lnc-WRNIP1-39	chr6:2228732-2229007	ucscGeneNc_uc003mts_1
17	lnc-WRNIP1-2	chr6:2283733-2283892	XLOC_005126
18	lnc-WRNIP1-2	chr6:2246032-2246164	XLOC_005126
19	lnc-WRNIP1-2	chr6:2273424-2273651	XLOC_005126
20	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
21	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
22	lnc-WRNIP1-2	chr6:2246028-2246164	XLOC_005126
23	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
24	lnc-GMDS-5	chr6:2273579-2273651	NONHSAT106634
25	lnc-WRNIP1-2	chr6:2246002-2246164	ENSG00000250903
26	lnc-WRNIP1-2	chr6:2269932-2270033	ENSG00000250903
27	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
28	lnc-WRNIP1-2	chr6:2249071-2249160	NONHSAT106620
29	lnc-WRNIP1-2	chr6:2273312-2273651	XLOC_005126
30	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
31	lnc-WRNIP1-2	chr6:2246059-2246164	ENSG00000250903
32	lnc-GMDS-5	chr6:2259533-2260309	NONHSAT106634
33	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
34	lnc-GMDS-5	chr6:2269932-2270247	NONHSAT106634
35	lnc-WRNIP1-2	chr6:2246024-2246164	NONHSAT106627
36	lnc-WRNIP1-2	chr6:2283767-2283997	NONHSAT106637
37	lnc-WRNIP1-2	chr6:2246011-2246164	ENSG00000250903
38	lnc-WRNIP1-2	chr6:2246089-2246164	ENSG00000250903
39	lnc-GMDS-1	chr6:2273079-2273285	XLOC_005578
40	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
41	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
42	lnc-WRNIP1-2	chr6:2283733-2284008	XLOC_005126
43	lnc-WRNIP1-2	chr6:2245996-2246164	XLOC_005126
44	lnc-WRNIP1-2	chr6:2283751-2283816	XLOC_005126
45	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
46	lnc-WRNIP1-2	chr6:2246002-2246164	ENSG00000250903
47	lnc-WRNIP1-2	chr6:2249071-2249160	NONHSAT106627
48	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
49	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
50	lnc-WRNIP1-38	chr6:2229900-2229929	NONHSAT106615

No data

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

Extended variants
information (count: 3395 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:3395 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558496135	chr6:2218653-2218654	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs529766836	chr6:2218695-2218696	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs185651028	chr6:2218825-2218826	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs189643235	chr6:2218833-2218834	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs9378687	chr6:2218835-2218836	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532381350	chr6:2218853-2218854	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs552498051	chr6:2218859-2218860	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs573114726	chr6:2218884-2218885	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs147371547	chr6:2219000-2219001	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs139590041	chr6:2219020-2219021	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs537402789	chr6:2219051-2219052	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs191343777	chr6:2219053-2219054	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs567722160	chr6:2219119-2219120	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs145540486	chr6:2219138-2219139	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201025732	chr6:2219172-2219173	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs544189937	chr6:2219245-2219246	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs553468342	chr6:2219309-2219310	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs6917151	chr6:2219310-2219311	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150678158	chr6:2219340-2219341	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558776873	chr6:2219381-2219382	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs116331122	chr6:2219398-2219399	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs543769374	chr6:2219413-2219414	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs139986643	chr6:2219431-2219432	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574401238	chr6:2219434-2219435	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529354385	chr6:2219437-2219438	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs183660931	chr6:2219472-2219473	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560234607	chr6:2219521-2219522	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs117765032	chr6:2219535-2219536	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs56196406	chr6:2219565-2219566	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562738704	chr6:2219570-2219571	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531661440	chr6:2219621-2219622	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs559920211	chr6:2219626-2219627	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs548493245	chr6:2219651-2219652	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs113757596	chr6:2219659-2219660	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs149840068	chr6:2219704-2219705	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs115084341	chr6:2219736-2219737	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs145872748	chr6:2219759-2219760	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs566956874	chr6:2219766-2219767	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs372549700	chr6:2219790-2219791	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs79637524	chr6:2219817-2219818	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs181102897	chr6:2219849-2219850	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs139482737	chr6:2219913-2219914	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs200704558	chr6:2219914-2219915	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs555277137	chr6:2219936-2219937	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs574342297	chr6:2219952-2219953	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs186380223	chr6:2219957-2219958	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs551922394	chr6:2219966-2219967	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs375619639	chr6:2219969-2219970	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs35413061	chr6:2219970-2219971	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs553547323	chr6:2220021-2220022	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	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:2241 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2192800-2222000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:2197400-2222000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:2207000-2222000	Weak transcription	Fetal Intestine Small	intestine
4	chr6:2208400-2222000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:2212600-2222200	Weak transcription	Aorta	Aorta
6	chr6:2214000-2222200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:2214000-2222400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:2214400-2222200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:2215800-2222000	Weak transcription	Ovary	ovary
10	chr6:2216000-2222000	Weak transcription	Left Ventricle	heart
11	chr6:2216800-2219400	Enhancers	HepG2	liver
12	chr6:2217000-2221400	Weak transcription	Hela-S3	cervix
13	chr6:2217200-2222000	Weak transcription	Small Intestine	intestine
14	chr6:2217400-2220600	Weak transcription	Gastric	stomach
15	chr6:2217400-2222200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:2217400-2222400	Weak transcription	Lung	lung
17	chr6:2217400-2231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:2217400-2231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:2217600-2222000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:2217600-2222000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:2217600-2222400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:2217800-2220400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr6:2218200-2222200	Weak transcription	Stomach Mucosa	stomach
24	chr6:2218400-2219200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:2218400-2222200	Weak transcription	Pancreas	Pancrea
26	chr6:2219200-2219800	Enhancers	Duodenum Mucosa	Duodenum
27	chr6:2219400-2221800	Enhancers	GM12878-XiMat	blood
28	chr6:2219400-2224600	Genic enhancers	HepG2	liver
29	chr6:2219600-2219800	Enhancers	Adipose Nuclei	Adipose
30	chr6:2219800-2222000	Weak transcription	Adipose Nuclei	Adipose
31	chr6:2219800-2222000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:2220400-2220600	Enhancers	Fetal Thymus	thymus
33	chr6:2220400-2220800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr6:2220600-2221000	Enhancers	Gastric	stomach
35	chr6:2220600-2222000	Weak transcription	Fetal Thymus	thymus
36	chr6:2220800-2222000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr6:2221000-2221200	Weak transcription	Gastric	stomach
38	chr6:2221000-2221600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr6:2221200-2221400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr6:2221200-2221400	Enhancers	Gastric	stomach
41	chr6:2221400-2221800	Enhancers	Hela-S3	cervix
42	chr6:2221400-2222800	Weak transcription	Gastric	stomach
43	chr6:2221600-2221800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
44	chr6:2221600-2221800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:2221800-2222000	Enhancers	Primary B cells from peripheral blood	blood
46	chr6:2221800-2222000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr6:2221800-2222000	Active TSS	Primary hematopoietic stem cells	blood
48	chr6:2221800-2222000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:2221800-2222000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr6:2221800-2222000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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