Variant report

Variant	nsv1025814
Chromosome Location	chr6:2064629-2308518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2714)
CpG islands
(count:1344)
Chromatin interactive
region (count:131)
LncRNA
region (count:127)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2714 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:2196329-2196680	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:2225591-2227334	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:2104544-2104926	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:2159048-2159052	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:2245615-2246925	HepG2	liver:	n/a	n/a
6	ARID3A	chr6:2209476-2209780	HepG2	liver:	n/a	n/a
7	ARID3A	chr6:2293538-2293631	HepG2	liver:	n/a	n/a
8	ARID3A	chr6:2259148-2259912	HepG2	liver:	n/a	n/a
9	ATF1	chr6:2245737-2246654	K562	blood:	n/a	n/a
10	ATF1	chr6:2127958-2128208	K562	blood:	n/a	n/a
11	ATF1	chr6:2155769-2155848	K562	blood:	n/a	n/a
12	ATF1	chr6:2124471-2124901	K562	blood:	n/a	n/a
13	ATF1	chr6:2183672-2183765	K562	blood:	n/a	n/a
14	ATF1	chr6:2182571-2182759	K562	blood:	n/a	n/a
15	ATF1	chr6:2196478-2196678	K562	blood:	n/a	n/a
16	ATF2	chr6:2110844-2112017	GM12878	blood:	n/a	n/a
17	ATF2	chr6:2158011-2158521	GM12878	blood:	n/a	n/a
18	ATF2	chr6:2111114-2112016	GM12878	blood:	n/a	n/a
19	ATF2	chr6:2129217-2129887	GM12878	blood:	n/a	n/a
20	ATF2	chr6:2127588-2128027	GM12878	blood:	n/a	n/a
21	ATF2	chr6:2081607-2082134	GM12878	blood:	n/a	n/a
22	ATF2	chr6:2079063-2079591	GM12878	blood:	n/a	n/a
23	ATF2	chr6:2232560-2233069	GM12878	blood:	n/a	n/a
24	ATF2	chr6:2129176-2129995	GM12878	blood:	n/a	n/a
25	ATF2	chr6:2186702-2187196	GM12878	blood:	n/a	n/a
26	ATF2	chr6:2186661-2187233	GM12878	blood:	n/a	n/a
27	ATF3	chr6:2111370-2111777	HCT-116	colon:	n/a	chr6:2111530-2111545 chr6:2111531-2111544
28	ATF3	chr6:2245728-2246033	K562	blood:	n/a	chr6:2245730-2245744 chr6:2245844-2245853
29	BACH1	chr6:2158879-2159189	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr6:2245130-2245916	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr6:2271489-2271498	H1-hESC	embryonic stem cell:	n/a	n/a
32	BATF	chr6:2158074-2158348	GM12878	blood:	n/a	n/a
33	BATF	chr6:2186732-2187068	GM12878	blood:	n/a	n/a
34	BATF	chr6:2111319-2111990	GM12878	blood:	n/a	chr6:2111639-2111650 chr6:2111531-2111544
35	BATF	chr6:2158049-2158395	GM12878	blood:	n/a	n/a
36	BATF	chr6:2111329-2111889	GM12878	blood:	n/a	chr6:2111639-2111650 chr6:2111531-2111544
37	BATF	chr6:2161935-2162214	GM12878	blood:	n/a	chr6:2162063-2162074
38	BATF	chr6:2161920-2162182	GM12878	blood:	n/a	chr6:2162063-2162074
39	BATF	chr6:2157291-2157615	GM12878	blood:	n/a	n/a
40	BATF	chr6:2186761-2187144	GM12878	blood:	n/a	n/a
41	BCL11A	chr6:2111264-2111905	GM12878	blood:	n/a	chr6:2111638-2111647 chr6:2111639-2111648 chr6:2111589-2111598 chr6:2111822-2111831
42	BCL11A	chr6:2194996-2195165	GM12878	blood:	n/a	n/a
43	BCL11A	chr6:2079176-2079524	GM12878	blood:	n/a	n/a
44	BCL11A	chr6:2186717-2187126	GM12878	blood:	n/a	chr6:2186988-2186997
45	BCL11A	chr6:2186818-2187044	GM12878	blood:	n/a	chr6:2186988-2186997
46	BCL11A	chr6:2111331-2111731	GM12878	blood:	n/a	chr6:2111638-2111647 chr6:2111639-2111648 chr6:2111589-2111598
47	BCL11A	chr6:2158074-2158406	GM12878	blood:	n/a	n/a
48	BCL3	chr6:2129238-2129889	GM12878	blood:	n/a	n/a
49	BCL3	chr6:2157541-2157964	GM12878	blood:	n/a	chr6:2157712-2157721
50	BCL3	chr6:2186732-2187122	GM12878	blood:	n/a	chr6:2186988-2186997

(count:1344 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:2246062-2246112	LNCaP	prostate:	n/a
2	chr6:2246077-2246127	HRE	kidney:	n/a
3	chr6:2246062-2246112	LNCaP	prostate:	n/a
4	chr6:2246077-2246127	HRE	kidney:	n/a
5	chr6:2242748-2242798	HAEpiC	amniotic membrane:	n/a
6	chr6:2246152-2246202	NH-A	brain:	n/a
7	chr6:2104322-2104372	Jurkat	blood:	n/a
8	chr6:2245854-2245904	Hela-S3	cervix:	n/a
9	chr6:2237336-2237386	NHDF-neo	bronchial:	n/a
10	chr6:2242748-2242798	MCF-7	breast:	n/a
11	chr6:2245849-2245899	HIPEpiC	eye:	n/a
12	chr6:2246553-2246603	U87	brain:	n/a
13	chr6:2223643-2223693	HCT-116	colon:	n/a
14	chr6:2245327-2245377	BE2_C	brain:	n/a
15	chr6:2141241-2141291	HRCEpiC	kidney:	n/a
16	chr6:2245854-2245904	HAEpiC	amniotic membrane:	n/a
17	chr6:2246077-2246127	PrEC	prostate:	n/a
18	chr6:2246062-2246112	HMEC	breast:	n/a
19	chr6:2246062-2246112	HRCEpiC	kidney:	n/a
20	chr6:2237336-2237386	SK-N-MC	brain:	n/a
21	chr6:2110875-2110925	H1-hESC	embryonic stem cell:	embryo
22	chr6:2168579-2168629	NHBE	bronchial:	n/a
23	chr6:2297047-2297097	Caco-2	colon:	n/a
24	chr6:2168579-2168629	HRE	kidney:	n/a
25	chr6:2297047-2297097	NT2-D1	testis:	n/a
26	chr6:2248207-2248257	K562	blood:	n/a
27	chr6:2246062-2246112	AG10803	skin:	n/a
28	chr6:2110875-2110925	BJ	skin:	n/a
29	chr6:2246077-2246127	GM12891	blood:	n/a
30	chr6:2230313-2230363	RPTEC	kidney:	n/a
31	chr6:2245849-2245899	AG09309	skin:	n/a
32	chr6:2246553-2246603	NHDF-neo	bronchial:	n/a
33	chr6:2242748-2242798	HepG2	liver:	n/a
34	chr6:2297047-2297097	HL-60	blood:	n/a
35	chr6:2110875-2110925	NT2-D1	testis:	n/a
36	chr6:2242748-2242798	HIPEpiC	eye:	n/a
37	chr6:2246152-2246202	PrEC	prostate:	n/a
38	chr6:2223643-2223693	NH-A	brain:	n/a
39	chr6:2245327-2245377	AoSMC	blood vessel:	n/a
40	chr6:2245849-2245899	HUVEC	blood vessel:	n/a
41	chr6:2266427-2266477	HRPEpiC	eye:	n/a
42	chr6:2134144-2134194	ProgFib	skin:	n/a
43	chr6:2245849-2245899	NHBE	bronchial:	n/a
44	chr6:2242748-2242798	GM12892	blood:	n/a
45	chr6:2237336-2237386	SK-N-SH	brain:	n/a
46	chr6:2242748-2242798	SK-N-MC	brain:	n/a
47	chr6:2246062-2246112	Hepatocyte	liver:	n/a
48	chr6:2141241-2141291	GM12891	blood:	n/a
49	chr6:2244766-2244816	NT2-D1	testis:	n/a
50	chr6:2104322-2104372	AG09319	gingival:	n/a

(count:131 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr6:2158821..2161883-chr6:2164038..2166971,3	K562	blood:
2	chr6:2040678..2043654-chr6:2103622..2106281,2	MCF-7	breast:
3	chr6:2204132..2205866-chr6:2208927..2211654,2	MCF-7	breast:
4	chr6:1610715..1613985-chr6:2196585..2199138,3	MCF-7	breast:
5	chr6:2245961..2247714-chr7:148785779..148788707,2	MCF-7	breast:
6	chr6:2165147..2167469-chr6:2167871..2169447,2	MCF-7	breast:
7	chr6:2225998..2228702-chr6:2230622..2232847,2	MCF-7	breast:
8	chr6:2244284..2246271-chr6:2246300..2249565,3	K562	blood:
9	chr6:1603882..1604773-chr6:2196250..2196916,2	MCF-7	breast:
10	chr6:2191098..2193029-chr6:2196230..2198209,2	MCF-7	breast:
11	chr6:1607774..1610426-chr6:2098410..2101344,2	MCF-7	breast:
12	chr6:1604456..1604957-chr6:2104229..2104835,2	MCF-7	breast:
13	chr6:2197465..2200771-chr6:2202426..2205380,3	K562	blood:
14	chr6:2205414..2205914-chr9:88555907..88556701,2	Hela-S3	cervix:
15	chr6:2209920..2212412-chr6:2215511..2218322,2	MCF-7	breast:
16	chr6:2107952..2110679-chr6:2111605..2113236,2	MCF-7	breast:
17	chr6:2128247..2132613-chr6:2133683..2136448,4	K562	blood:
18	chr6:2208755..2210162-chr6:2353819..2354792,15	MCF-7	breast:
19	chr6:2225998..2228702-chr6:2230622..2232847,2	MCF-7	breast:
20	chr6:2249021..2251510-chr6:2257957..2260606,2	MCF-7	breast:
21	chr6:2223748..2225261-chr6:2229419..2232033,2	K562	blood:
22	chr6:2235011..2238207-chr6:2241335..2245707,5	K562	blood:
23	chr6:2207154..2208883-chr6:2356432..2359117,2	K562	blood:
24	chr6:2081922..2083588-chr6:2088961..2091628,2	MCF-7	breast:
25	chr6:2250207..2252931-chr6:2253285..2256060,3	K562	blood:
26	chr6:2235665..2237957-chr6:2241692..2244945,3	K562	blood:
27	chr6:2209949..2210703-chr6:2634387..2635054,2	MCF-7	breast:
28	chr6:2271315..2274254-chr6:2275428..2277521,2	K562	blood:
29	chr6:2133819..2135581-chr6:2140564..2142589,2	K562	blood:
30	chr6:1608030..1611197-chr6:2098990..2102744,3	MCF-7	breast:
31	chr6:2184611..2187450-chr6:2194098..2196085,2	K562	blood:
32	chr6:2188204..2189863-chr6:2244386..2247241,2	MCF-7	breast:
33	chr6:2081922..2083588-chr6:2088961..2091628,2	MCF-7	breast:
34	chr6:2263398..2266340-chr6:2266756..2269445,2	K562	blood:
35	chr6:1610117..1612459-chr6:2103517..2106482,4	MCF-7	breast:
36	chr6:2244435..2247412-chr6:2262335..2264003,2	MCF-7	breast:
37	chr6:2245971..2248921-chr6:2250895..2252497,2	K562	blood:
38	chr6:2229616..2232069-chr6:2244990..2246966,2	MCF-7	breast:
39	chr6:1616379..1619156-chr6:2096704..2099403,2	MCF-7	breast:
40	chr6:2237675..2240301-chr6:2244891..2246536,2	MCF-7	breast:
41	chr5:180650449..180651104-chr6:2245494..2246192,2	NB4	blood:
42	chr6:2218011..2220266-chr6:2224159..2226016,2	K562	blood:
43	chr6:2102993..2105699-chr6:2107973..2110016,2	K562	blood:
44	chr6:1610226..1612601-chr6:2208611..2210628,2	MCF-7	breast:
45	chr6:2162382..2163882-chr7:156518679..156520785,2	MCF-7	breast:
46	chr6:2217534..2219085-chr6:2231470..2233628,2	MCF-7	breast:
47	chr6:2209248..2209782-chr6:2356303..2356963,2	K562	blood:
48	chr6:2130543..2132757-chr6:2133403..2136232,3	K562	blood:
49	chr6:2231926..2234637-chr6:2242249..2244795,3	MCF-7	breast:
50	chr6:2040794..2041414-chr6:2132566..2133423,2	MCF-7	breast:

(count:127 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRNIP1-2	chr6:2263835-2263918	NONHSAT106627
2	lnc-WRNIP1-39	chr6:2217049-2218650	ucscGeneNc_uc003mts_1
3	lnc-WRNIP1-2	chr6:2245996-2246164	XLOC_005126
4	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
5	lnc-WRNIP1-38	chr6:2229900-2229929	NONHSAT106615
6	lnc-FOXC1-12	chr6:2122004-2122075	NONHSAT106599
7	lnc-WRNIP1-2	chr6:2263835-2264362	ENSG00000250903
8	lnc-WRNIP1-2	chr6:2306434-2306439	XLOC_005126
9	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
10	lnc-FOXC1-12	chr6:2107290-2107350	NONHSAT106599
11	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
12	lnc-WRNIP1-2	chr6:2269932-2270247	ENSG00000250903
13	lnc-FOXC1-12	chr6:2125723-2125802	NONHSAT106599
14	lnc-WRNIP1-2	chr6:2283733-2283748	XLOC_005126
15	lnc-FOXC1-12	chr6:2107466-2107557	NONHSAT106599
16	lnc-GMDS-5	chr6:2271947-2272620	NONHSAT106634
17	lnc-WRNIP1-2	chr6:2269932-2270248	XLOC_005126
18	lnc-WRNIP1-39	chr6:2228732-2229007	ucscGeneNc_uc003mts_1
19	lnc-FOXC1-12	chr6:2120363-2120431	NONHSAT106599
20	lnc-WRNIP1-2	chr6:2272050-2273651	XLOC_005126
21	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
22	lnc-WRNIP1-2	chr6:2246024-2246164	NONHSAT106627
23	lnc-FOXC1-12	chr6:2107466-2107557	NONHSAT106601
24	lnc-WRNIP1-2	chr6:2273424-2273651	XLOC_005126
25	lnc-WRNIP1-2	chr6:2246011-2246164	ENSG00000250903
26	lnc-GMDS-5	chr6:2271891-2271926	NONHSAT106634
27	lnc-FOXC1-12	chr6:2107681-2107741	NONHSAT106601
28	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
29	lnc-C6orf195-20	chr6:2167900-2168389	NONHSAT106610
30	lnc-WRNIP1-2	chr6:2283733-2284008	ENSG00000250903
31	lnc-FOXC1-12	chr6:2107862-2107975	NONHSAT106601
32	lnc-WRNIP1-2	chr6:2246028-2246164	XLOC_005126
33	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
34	lnc-FOXC1-12	chr6:2108159-2108260	NONHSAT106601
35	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
36	lnc-WRNIP1-2	chr6:2269932-2270033	XLOC_005126
37	lnc-FOXC1-12	chr6:2108159-2108260	NONHSAT106599
38	lnc-WRNIP1-2	chr6:2283733-2284008	XLOC_005126
39	lnc-GMDS-5	chr6:2273526-2273562	NONHSAT106634
40	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
41	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
42	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
43	lnc-GMDS-1	chr6:2273079-2273285	XLOC_005578
44	lnc-GMDS-5	chr6:2259533-2260309	NONHSAT106634
45	lnc-WRNIP1-2	chr6:2246060-2246164	XLOC_005126
46	lnc-WRNIP1-2	chr6:2246087-2246164	ENSG00000250903
47	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
48	lnc-WRNIP1-2	chr6:2269932-2270033	ENSG00000250903
49	lnc-WRNIP1-2	chr6:2272050-2272114	XLOC_005126
50	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903

No data

Variant related genes	Relation type
GMDS	TF binding region
GMDS-AS1	TF binding region
GMDS	CpG island
GMDS-AS1	CpG island
ENSG00000164385	chromatin interactions
ENSG00000197694	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000164091	chromatin interactions
ENSG00000168237	chromatin interactions
ENSG00000105983	chromatin interactions
ENSG00000112699	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000054598	chromatin interactions
ENSG00000197362	chromatin interactions
ENSG00000250903	chromatin interactions
ENSG00000228395	chromatin interactions
ENSG00000135040	chromatin interactions
PICALM	miRNA target sites
B3GNT2	miRNA target sites
IRF5	miRNA target sites
NR3C1	miRNA target sites
PAPOLA	miRNA target sites
SC5DL	miRNA target sites
SPCS3	miRNA target sites
LYRM7	miRNA target sites
CLIP1	miRNA target sites
STX7	miRNA target sites
SMAD4	miRNA target sites
CDK2	miRNA target sites
MYCN	miRNA target sites
BIRC6	miRNA target sites
CDK4	miRNA target sites
DCAF8	miRNA target sites
PCNT	miRNA target sites
BMPR2	miRNA target sites
ATXN7L1	miRNA target sites
PCBP2	miRNA target sites
RAB13	miRNA target sites
GPR172A	miRNA target sites
LMNA	miRNA target sites
SLC19A2	miRNA target sites
LRRC2	miRNA target sites
ATXN7L3	miRNA target sites
RGS17	miRNA target sites
VAMP3	miRNA target sites
ARL4A	miRNA target sites
NR5A2	miRNA target sites
GSTK1	miRNA target sites
TRIB3	miRNA target sites
FAM82A2	miRNA target sites

Extended variants
information (count: 9148 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:9148 , 50 per page) page: 1 2 3 4 5 6 7 ... 183

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs676015	chr6:2064648-2064649	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535314921	chr6:2064673-2064674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553442269	chr6:2064675-2064676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141465663	chr6:2064716-2064717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543071658	chr6:2064746-2064747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150838166	chr6:2064754-2064755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139310231	chr6:2064771-2064772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542796476	chr6:2064808-2064809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143337406	chr6:2064811-2064812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371887713	chr6:2064815-2064816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146731731	chr6:2064827-2064828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551632118	chr6:2064843-2064844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116070339	chr6:2064860-2064861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553383854	chr6:2064911-2064912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139386313	chr6:2064935-2064936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573444868	chr6:2065002-2065003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545383418	chr6:2065005-2065006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144167500	chr6:2065008-2065009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545904320	chr6:2065026-2065027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111257598	chr6:2065031-2065032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529345558	chr6:2065033-2065034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144888342	chr6:2065065-2065066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576194430	chr6:2065083-2065084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115849682	chr6:2065127-2065128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575942750	chr6:2065150-2065151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534931310	chr6:2065165-2065166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527879479	chr6:2065225-2065226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149020863	chr6:2065253-2065254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143032980	chr6:2065254-2065255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530106254	chr6:2065266-2065267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189483776	chr6:2065271-2065272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547972067	chr6:2065280-2065281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573725676	chr6:2065293-2065294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9503085	chr6:2065295-2065296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9503086	chr6:2065298-2065299	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs6923662	chr6:2065303-2065304	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs9503087	chr6:2065313-2065314	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565148159	chr6:2065315-2065316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9503088	chr6:2065316-2065317	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs540592754	chr6:2065339-2065340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563336083	chr6:2065352-2065353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560288863	chr6:2065354-2065355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549042192	chr6:2065358-2065359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566061139	chr6:2065370-2065371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528649768	chr6:2065374-2065375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551690845	chr6:2065384-2065385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571862123	chr6:2065385-2065386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537736219	chr6:2065387-2065388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185537945	chr6:2065388-2065389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557726439	chr6:2065391-2065392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Cancer	20164919	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Gastric cancer	22315472	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Uveal melanoma	20484589	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:3700 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2022400-2080600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:2056000-2080400	Weak transcription	HepG2	liver
3	chr6:2057600-2086400	Weak transcription	Aorta	Aorta
4	chr6:2059400-2080800	Weak transcription	Fetal Intestine Small	intestine
5	chr6:2062600-2086200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:2063200-2065000	Enhancers	Pancreas	Pancrea
7	chr6:2063800-2065200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:2063800-2065200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:2064000-2064800	Enhancers	Brain Germinal Matrix	brain
10	chr6:2064000-2065200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:2064000-2065400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:2064200-2064800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:2064200-2082600	Weak transcription	Stomach Mucosa	stomach
14	chr6:2064200-2094000	Weak transcription	Gastric	stomach
15	chr6:2064600-2065000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:2064600-2065200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:2064600-2065400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:2064600-2065400	Enhancers	Fetal Thymus	thymus
19	chr6:2064800-2065200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:2064800-2065200	Enhancers	Thymus	Thymus
21	chr6:2064800-2065400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr6:2064800-2065400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:2064800-2065400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:2065000-2117400	Weak transcription	Pancreas	Pancrea
25	chr6:2070800-2071000	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr6:2071000-2080800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:2072200-2073600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:2072400-2073200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:2072400-2073600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:2072800-2073200	Enhancers	Osteobl	bone
31	chr6:2073200-2073400	Enhancers	Left Ventricle	heart
32	chr6:2073200-2073600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:2073400-2082000	Weak transcription	Left Ventricle	heart
34	chr6:2078200-2078600	Enhancers	HUVEC	blood vessel
35	chr6:2078600-2081600	Weak transcription	HUVEC	blood vessel
36	chr6:2078800-2081200	ZNF genes & repeats	GM12878-XiMat	blood
37	chr6:2078800-2103800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:2079000-2108800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr6:2079400-2081600	Weak transcription	Thymus	Thymus
40	chr6:2079800-2080600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:2079800-2080600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:2080400-2081000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:2080400-2084000	Strong transcription	HepG2	liver
44	chr6:2080600-2081000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr6:2080600-2081000	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr6:2080600-2081000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
47	chr6:2080600-2081200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
48	chr6:2080600-2081200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr6:2080600-2081400	Weak transcription	Dnd41	blood
50	chr6:2080800-2081200	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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