Variant report

Variant	nsv538099
Chromosome Location	chr6:2071210-2308657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2712)
CpG islands
(count:1344)
Chromatin interactive
region (count:131)
LncRNA
region (count:127)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2712 , 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	chr6:2159048-2159052	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:2293538-2293631	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:2209476-2209780	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:2245615-2246925	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:2225591-2227334	HepG2	liver:	n/a	n/a
6	ARID3A	chr6:2196329-2196680	HepG2	liver:	n/a	n/a
7	ARID3A	chr6:2259148-2259912	HepG2	liver:	n/a	n/a
8	ARID3A	chr6:2104544-2104926	HepG2	liver:	n/a	n/a
9	ATF1	chr6:2182571-2182759	K562	blood:	n/a	n/a
10	ATF1	chr6:2245737-2246654	K562	blood:	n/a	n/a
11	ATF1	chr6:2127958-2128208	K562	blood:	n/a	n/a
12	ATF1	chr6:2155769-2155848	K562	blood:	n/a	n/a
13	ATF1	chr6:2196478-2196678	K562	blood:	n/a	n/a
14	ATF1	chr6:2124471-2124901	K562	blood:	n/a	n/a
15	ATF1	chr6:2183672-2183765	K562	blood:	n/a	n/a
16	ATF2	chr6:2158011-2158521	GM12878	blood:	n/a	n/a
17	ATF2	chr6:2079063-2079591	GM12878	blood:	n/a	n/a
18	ATF2	chr6:2127588-2128027	GM12878	blood:	n/a	n/a
19	ATF2	chr6:2110844-2112017	GM12878	blood:	n/a	n/a
20	ATF2	chr6:2129217-2129887	GM12878	blood:	n/a	n/a
21	ATF2	chr6:2129176-2129995	GM12878	blood:	n/a	n/a
22	ATF2	chr6:2081607-2082134	GM12878	blood:	n/a	n/a
23	ATF2	chr6:2232560-2233069	GM12878	blood:	n/a	n/a
24	ATF2	chr6:2186661-2187233	GM12878	blood:	n/a	n/a
25	ATF2	chr6:2186702-2187196	GM12878	blood:	n/a	n/a
26	ATF2	chr6:2111114-2112016	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	chr6:2271489-2271498	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr6:2158879-2159189	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr6:2245130-2245916	H1-hESC	embryonic stem cell:	n/a	n/a
32	BATF	chr6:2111319-2111990	GM12878	blood:	n/a	chr6:2111639-2111650 chr6:2111531-2111544
33	BATF	chr6:2186761-2187144	GM12878	blood:	n/a	n/a
34	BATF	chr6:2186732-2187068	GM12878	blood:	n/a	n/a
35	BATF	chr6:2161920-2162182	GM12878	blood:	n/a	chr6:2162063-2162074
36	BATF	chr6:2158049-2158395	GM12878	blood:	n/a	n/a
37	BATF	chr6:2111329-2111889	GM12878	blood:	n/a	chr6:2111639-2111650 chr6:2111531-2111544
38	BATF	chr6:2158074-2158348	GM12878	blood:	n/a	n/a
39	BATF	chr6:2161935-2162214	GM12878	blood:	n/a	chr6:2162063-2162074
40	BATF	chr6:2157291-2157615	GM12878	blood:	n/a	n/a
41	BCL11A	chr6:2111331-2111731	GM12878	blood:	n/a	chr6:2111638-2111647 chr6:2111639-2111648 chr6:2111589-2111598
42	BCL11A	chr6:2079176-2079524	GM12878	blood:	n/a	n/a
43	BCL11A	chr6:2158074-2158406	GM12878	blood:	n/a	n/a
44	BCL11A	chr6:2194996-2195165	GM12878	blood:	n/a	n/a
45	BCL11A	chr6:2186818-2187044	GM12878	blood:	n/a	chr6:2186988-2186997
46	BCL11A	chr6:2186717-2187126	GM12878	blood:	n/a	chr6:2186988-2186997
47	BCL11A	chr6:2111264-2111905	GM12878	blood:	n/a	chr6:2111638-2111647 chr6:2111639-2111648 chr6:2111589-2111598 chr6:2111822-2111831
48	BCL3	chr6:2129238-2129889	GM12878	blood:	n/a	n/a
49	BCL3	chr6:2186732-2187122	GM12878	blood:	n/a	chr6:2186988-2186997
50	BCL3	chr6:2157541-2157964	GM12878	blood:	n/a	chr6:2157712-2157721

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:2104322-2104372	AG04450	lung:	fetal
2	chr6:2245849-2245899	ProgFib	skin:	n/a
3	chr6:2104322-2104372	AG04450	lung:	fetal
4	chr6:2245849-2245899	ProgFib	skin:	n/a
5	chr6:2242748-2242798	K562	blood:	n/a
6	chr6:2246062-2246112	PANC-1	pancreas:	n/a
7	chr6:2104322-2104372	HL-60	blood:	n/a
8	chr6:2230313-2230363	HL-60	blood:	n/a
9	chr6:2134144-2134194	BJ	skin:	n/a
10	chr6:2230313-2230363	U87	brain:	n/a
11	chr6:2223643-2223693	ECC-1	luminal epithelium:	n/a
12	chr6:2245854-2245904	BE2_C	brain:	n/a
13	chr6:2242748-2242798	HRE	kidney:	n/a
14	chr6:2223643-2223693	RPTEC	kidney:	n/a
15	chr6:2197772-2197822	BJ	skin:	n/a
16	chr6:2245854-2245904	GM12892	blood:	n/a
17	chr6:2168579-2168629	H1-hESC	embryonic stem cell:	embryo
18	chr6:2230313-2230363	SK-N-MC	brain:	n/a
19	chr6:2246077-2246127	HepG2	liver:	n/a
20	chr6:2168579-2168629	A549	lung:	n/a
21	chr6:2104322-2104372	NHDF-neo	bronchial:	n/a
22	chr6:2168579-2168629	HRCEpiC	kidney:	n/a
23	chr6:2237336-2237386	HCM	heart:	n/a
24	chr6:2266427-2266477	Jurkat	blood:	n/a
25	chr6:2245749-2245799	RPTEC	kidney:	n/a
26	chr6:2246062-2246112	GM06990	blood:	n/a
27	chr6:2110875-2110925	GM12892	blood:	n/a
28	chr6:2230313-2230363	SK-N-SH_RA	brain:	n/a
29	chr6:2134144-2134194	MCF10A-Er-Src	breast:	n/a
30	chr6:2245749-2245799	GM12892	blood:	n/a
31	chr6:2297047-2297097	SAEC	small airway:	n/a
32	chr6:2246152-2246202	SK-N-SH_RA	brain:	n/a
33	chr6:2246553-2246603	NHDF-neo	bronchial:	n/a
34	chr6:2242748-2242798	AG10803	skin:	n/a
35	chr6:2197772-2197822	ProgFib	skin:	n/a
36	chr6:2197772-2197822	GM12878	blood:	n/a
37	chr6:2266427-2266477	IMR90	lung:	fetal
38	chr6:2237336-2237386	LNCaP	prostate:	n/a
39	chr6:2246152-2246202	HEEpiC	esophagus:	n/a
40	chr6:2245327-2245377	LNCaP	prostate:	n/a
41	chr6:2248207-2248257	NB4	blood:	n/a
42	chr6:2297047-2297097	HEEpiC	esophagus:	n/a
43	chr6:2223643-2223693	GM06990	blood:	n/a
44	chr6:2197772-2197822	ovcar-3	ovarian:	n/a
45	chr6:2134144-2134194	HEEpiC	esophagus:	n/a
46	chr6:2246553-2246603	HCM	heart:	n/a
47	chr6:2134144-2134194	HNPCEpiC	eye:	n/a
48	chr6:2245854-2245904	T-47D	breast:	n/a
49	chr6:2246553-2246603	PANC-1	pancreas:	n/a
50	chr6:2197772-2197822	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:2232725..2235057-chr6:2241129..2244021,2	MCF-7	breast:
2	chr6:1604770..1605328-chr6:2158470..2159326,2	K562	blood:
3	chr6:2250207..2252931-chr6:2253285..2256060,3	K562	blood:
4	chr6:2209920..2212412-chr6:2215511..2218322,2	MCF-7	breast:
5	chr6:2249021..2251510-chr6:2257957..2260606,2	MCF-7	breast:
6	chr6:2165147..2167469-chr6:2167871..2169447,2	MCF-7	breast:
7	chr6:2205414..2205914-chr9:88555907..88556701,2	Hela-S3	cervix:
8	chr6:2241571..2243321-chr6:2248990..2251282,2	MCF-7	breast:
9	chr6:2107952..2110679-chr6:2111605..2113236,2	MCF-7	breast:
10	chr6:2235011..2238207-chr6:2241335..2245707,5	K562	blood:
11	chr6:2209949..2210703-chr6:2634387..2635054,2	MCF-7	breast:
12	chr6:2232725..2235057-chr6:2241129..2244021,2	MCF-7	breast:
13	chr6:2197465..2199923-chr6:2202426..2204312,2	K562	blood:
14	chr6:2223759..2225696-chr6:2243552..2246152,2	MCF-7	breast:
15	chr6:2184611..2187450-chr6:2194098..2196085,2	K562	blood:
16	chr6:2222298..2224652-chr6:2235622..2237446,2	MCF-7	breast:
17	chr6:1606456..1608668-chr6:2173309..2175661,2	MCF-7	breast:
18	chr6:2235665..2237957-chr6:2241692..2244945,3	K562	blood:
19	chr6:2263398..2266340-chr6:2266756..2269445,2	K562	blood:
20	chr6:2217534..2219085-chr6:2231470..2233628,2	MCF-7	breast:
21	chr6:1610715..1613985-chr6:2196585..2199138,3	MCF-7	breast:
22	chr6:2239677..2242636-chr6:2266215..2268461,2	K562	blood:
23	chr6:1604279..1605453-chr6:2196023..2197192,6	K562	blood:
24	chr6:2193645..2196467-chr6:2198133..2199923,2	K562	blood:
25	chr6:2235665..2237957-chr6:2241692..2244945,3	K562	blood:
26	chr6:2229616..2232069-chr6:2244990..2246966,2	MCF-7	breast:
27	chr6:1554542..1557319-chr6:2236589..2238217,2	MCF-7	breast:
28	chr6:2165147..2167469-chr6:2167871..2169447,2	MCF-7	breast:
29	chr6:2162382..2163882-chr7:156518679..156520785,2	MCF-7	breast:
30	chr6:1604255..1605544-chr6:2104014..2105193,5	K562	blood:
31	chr6:2231926..2234637-chr6:2242249..2244795,3	MCF-7	breast:
32	chr6:2235011..2238207-chr6:2241335..2245707,5	K562	blood:
33	chr6:2218011..2220266-chr6:2224159..2226016,2	K562	blood:
34	chr6:2081922..2083588-chr6:2088961..2091628,2	MCF-7	breast:
35	chr6:2226252..2228883-chr6:2229316..2232296,2	MCF-7	breast:
36	chr6:2110933..2112552-chr6:2126239..2128267,2	MCF-7	breast:
37	chr6:2040794..2041414-chr6:2132566..2133423,2	MCF-7	breast:
38	chr6:2102993..2105699-chr6:2107973..2110016,2	K562	blood:
39	chr6:2222298..2224652-chr6:2235622..2237446,2	MCF-7	breast:
40	chr6:2204132..2205866-chr6:2208927..2211654,2	MCF-7	breast:
41	chr6:2184611..2187450-chr6:2194098..2196085,2	K562	blood:
42	chr6:2134081..2137218-chr6:2139617..2142589,3	K562	blood:
43	chr6:2204132..2205866-chr6:2208927..2211654,2	MCF-7	breast:
44	chr6:2249021..2251510-chr6:2257957..2260606,2	MCF-7	breast:
45	chr6:1603725..1606000-chr6:2194697..2196437,2	MCF-7	breast:
46	chr6:2237675..2240301-chr6:2244891..2246536,2	MCF-7	breast:
47	chr6:2245961..2247714-chr7:148785779..148788707,2	MCF-7	breast:
48	chr6:2244795..2247987-chr6:2252764..2255818,5	MCF-7	breast:
49	chr6:2225998..2228702-chr6:2230622..2232847,2	MCF-7	breast:
50	chr6:2128247..2132613-chr6:2133683..2136448,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
2	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
3	lnc-WRNIP1-2	chr6:2249071-2249160	NONHSAT106627
4	lnc-GMDS-5	chr6:2271947-2272620	NONHSAT106634
5	lnc-WRNIP1-39	chr6:2194070-2194159	ucscGeneNc_uc003mts_1
6	lnc-FOXC1-12	chr6:2122004-2122075	NONHSAT106601
7	lnc-GMDS-1	chr6:2273079-2273285	XLOC_005578
8	lnc-FOXC1-12	chr6:2107290-2107350	NONHSAT106599
9	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
10	lnc-GMDS-5	chr6:2263835-2263918	NONHSAT106634
11	lnc-WRNIP1-39	chr6:2214931-2215032	ucscGeneNc_uc003mts_1
12	lnc-FOXC1-12	chr6:2125895-2126649	NONHSAT106599
13	lnc-WRNIP1-2	chr6:2269932-2270033	ENSG00000250903
14	lnc-WRNIP1-2	chr6:2273424-2273651	XLOC_005126
15	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
16	lnc-FOXC1-12	chr6:2120205-2120250	NONHSAT106600
17	lnc-WRNIP1-2	chr6:2263835-2264362	ENSG00000250903
18	lnc-WRNIP1-38	chr6:2232817-2233509	NONHSAT106616
19	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
20	lnc-WRNIP1-2	chr6:2269932-2270033	ENSG00000250903
21	lnc-FOXC1-12	chr6:2108159-2108260	NONHSAT106600
22	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
23	lnc-WRNIP1-38	chr6:2227986-2228048	NONHSAT106615
24	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
25	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
26	lnc-WRNIP1-39	chr6:2228732-2229007	ucscGeneNc_uc003mts_1
27	lnc-WRNIP1-38	chr6:2232817-2233730	NONHSAT106615
28	lnc-WRNIP1-2	chr6:2306527-2306760	ENSG00000250903
29	lnc-FOXC1-12	chr6:2107290-2107350	NONHSAT106601
30	lnc-WRNIP1-38	chr6:2228225-2228248	NONHSAT106616
31	lnc-WRNIP1-2	chr6:2246059-2246164	ENSG00000250903
32	lnc-WRNIP1-38	chr6:2229900-2229929	NONHSAT106615
33	lnc-WRNIP1-2	chr6:2269932-2270033	ENSG00000250903
34	lnc-FOXC1-12	chr6:2107681-2107741	NONHSAT106599
35	lnc-FOXC1-12	chr6:2107466-2107557	NONHSAT106599
36	lnc-WRNIP1-2	chr6:2245982-2246164	ENSG00000250903
37	lnc-WRNIP1-2	chr6:2246002-2246164	ENSG00000250903
38	lnc-WRNIP1-2	chr6:2246024-2246164	NONHSAT106627
39	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
40	lnc-WRNIP1-2	chr6:2269932-2270247	ENSG00000250903
41	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
42	lnc-GMDS-5	chr6:2269932-2270247	NONHSAT106634
43	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
44	lnc-FOXC1-12	chr6:2107466-2107557	NONHSAT106601
45	lnc-FOXC1-12	chr6:2106666-2106822	NONHSAT106600
46	lnc-WRNIP1-3	chr6:2244111-2245348	ENSG00000246005
47	lnc-FOXC1-12	chr6:2108159-2108260	NONHSAT106601
48	lnc-GMDS-5	chr6:2259533-2260309	NONHSAT106634
49	lnc-FOXC1-12	chr6:2107862-2107975	NONHSAT106600
50	lnc-WRNIP1-2	chr6:2246087-2246164	ENSG00000250903

No data

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

Extended variants
information (count: 8832 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:8832 , 50 per page) page: 1 2 3 4 5 6 7 ... 177

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558324334	chr6:2071216-2071217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145035519	chr6:2071307-2071308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115239718	chr6:2071372-2071373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147577301	chr6:2071377-2071378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573924746	chr6:2071400-2071401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181512181	chr6:2071406-2071407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533434043	chr6:2071445-2071446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553152457	chr6:2071457-2071458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117825977	chr6:2071462-2071463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545566446	chr6:2071471-2071472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs495550	chr6:2071474-2071475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs142080893	chr6:2071489-2071490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187158606	chr6:2071495-2071496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576787025	chr6:2071500-2071501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115706662	chr6:2071520-2071521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73412576	chr6:2071533-2071534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191881182	chr6:2071544-2071545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566388819	chr6:2071567-2071568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532066854	chr6:2071571-2071572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35541201	chr6:2071611-2071612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9405545	chr6:2071661-2071662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554003328	chr6:2071665-2071666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149817053	chr6:2071679-2071680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373867177	chr6:2071701-2071702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145827234	chr6:2071707-2071708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537674597	chr6:2071714-2071715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149002715	chr6:2071725-2071726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182515811	chr6:2071755-2071756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536206848	chr6:2071782-2071783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553330977	chr6:2071804-2071805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73716930	chr6:2071828-2071829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545495209	chr6:2071840-2071841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577166886	chr6:2071877-2071878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559114809	chr6:2071885-2071886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545919049	chr6:2071894-2071895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575872565	chr6:2071909-2071910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544799076	chr6:2071919-2071920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79863264	chr6:2071988-2071989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143839960	chr6:2071991-2071992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9503091	chr6:2071994-2071995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58499654	chr6:2072030-2072031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs551829334	chr6:2072031-2072032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61682154	chr6:2072034-2072035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562261474	chr6:2072055-2072056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531363755	chr6:2072057-2072058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73716931	chr6:2072062-2072063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568211758	chr6:2072070-2072071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17134648	chr6:2072083-2072084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs59609802	chr6:2072093-2072094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189731329	chr6:2072094-2072095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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:3684 , 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	chr6:2064200-2082600	Weak transcription	Stomach Mucosa	stomach
7	chr6:2064200-2094000	Weak transcription	Gastric	stomach
8	chr6:2065000-2117400	Weak transcription	Pancreas	Pancrea
9	chr6:2071000-2080800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:2072200-2073600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:2072400-2073200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:2072400-2073600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:2072800-2073200	Enhancers	Osteobl	bone
14	chr6:2073200-2073400	Enhancers	Left Ventricle	heart
15	chr6:2073200-2073600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:2073400-2082000	Weak transcription	Left Ventricle	heart
17	chr6:2078200-2078600	Enhancers	HUVEC	blood vessel
18	chr6:2078600-2081600	Weak transcription	HUVEC	blood vessel
19	chr6:2078800-2081200	ZNF genes & repeats	GM12878-XiMat	blood
20	chr6:2078800-2103800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:2079000-2108800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:2079400-2081600	Weak transcription	Thymus	Thymus
23	chr6:2079800-2080600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:2079800-2080600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:2080400-2081000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:2080400-2084000	Strong transcription	HepG2	liver
27	chr6:2080600-2081000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr6:2080600-2081000	ZNF genes & repeats	Fetal Intestine Large	intestine
29	chr6:2080600-2081000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
30	chr6:2080600-2081200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr6:2080600-2081200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr6:2080600-2081400	Weak transcription	Dnd41	blood
33	chr6:2080800-2081200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr6:2080800-2081200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr6:2080800-2081600	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr6:2080800-2082600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:2080800-2082800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:2080800-2083600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr6:2081000-2108800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:2081200-2081400	Enhancers	GM12878-XiMat	blood
41	chr6:2081200-2082400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr6:2081200-2104000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:2081200-2104200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr6:2081200-2113000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr6:2081400-2082200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:2081400-2082600	Flanking Active TSS	GM12878-XiMat	blood
47	chr6:2081400-2082800	Enhancers	Primary T cells from cord blood	blood
48	chr6:2081400-2082800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr6:2081400-2083600	Enhancers	Dnd41	blood
50	chr6:2081600-2082600	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links