Variant report

Variant	nsv538100
Chromosome Location	chr6:2199666-2267750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1238)
CpG islands
(count:917)
Chromatin interactive
region (count:73)
LncRNA
region (count:61)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1238 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:2259148-2259912	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:2209476-2209780	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:2225591-2227334	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:2245615-2246925	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	BCLAF1	chr6:2245572-2246352	GM12878	blood:	n/a	chr6:2245880-2245893 chr6:2245888-2245901
10	BCLAF1	chr6:2209419-2209788	GM12878	blood:	n/a	n/a
11	BHLHE40	chr6:2251462-2251463	K562	blood:	n/a	n/a
12	BHLHE40	chr6:2246336-2246701	GM12878	blood:	n/a	chr6:2246639-2246655
13	BHLHE40	chr6:2255758-2255989	K562	blood:	n/a	n/a
14	BHLHE40	chr6:2245113-2246812	K562	blood:	n/a	chr6:2245835-2245851 chr6:2246639-2246655
15	BHLHE40	chr6:2245104-2246828	HepG2	liver:	n/a	chr6:2245835-2245851 chr6:2246639-2246655
16	BHLHE40	chr6:2245136-2246123	GM12878	blood:	n/a	chr6:2245835-2245851
17	BRCA1	chr6:2245211-2245256	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr6:2245737-2246792	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr6:2245877-2245928	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr6:2245076-2245334	HepG2	liver:	n/a	n/a
21	BRCA1	chr6:2245739-2246147	HepG2	liver:	n/a	n/a
22	BRCA1	chr6:2243909-2244064	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr6:2246100-2246260	GM12878	blood:	n/a	n/a
24	BRCA1	chr6:2237262-2237709	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr6:2246545-2246820	HepG2	liver:	n/a	n/a
26	CCNT2	chr6:2245443-2246189	K562	blood:	n/a	n/a
27	CCNT2	chr6:2246532-2246685	K562	blood:	n/a	n/a
28	CEBPB	chr6:2221592-2221716	HepG2	liver:	n/a	chr6:2221670-2221681
29	CEBPB	chr6:2265960-2266156	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr6:2238486-2238640	HepG2	liver:	n/a	chr6:2238567-2238578
31	CEBPB	chr6:2209567-2209767	A549	lung:	n/a	n/a
32	CEBPB	chr6:2222550-2222855	HepG2	liver:	n/a	chr6:2222686-2222697 chr6:2222686-2222695
33	CEBPB	chr6:2243873-2244156	IMR90	lung:	n/a	chr6:2244025-2244036 chr6:2244027-2244036 chr6:2244026-2244037 chr6:2244025-2244038
34	CEBPB	chr6:2229295-2229626	Hela-S3	cervix:	n/a	chr6:2229449-2229466 chr6:2229347-2229355
35	CEBPB	chr6:2243905-2244121	A549	lung:	n/a	chr6:2244025-2244036 chr6:2244027-2244036 chr6:2244026-2244037 chr6:2244025-2244038
36	CEBPB	chr6:2259227-2259544	HepG2	liver:	n/a	n/a
37	CEBPB	chr6:2222541-2222779	H1-hESC	embryonic stem cell:	n/a	chr6:2222686-2222697 chr6:2222686-2222695
38	CEBPB	chr6:2265213-2265499	IMR90	lung:	n/a	n/a
39	CEBPB	chr6:2222618-2222768	A549	lung:	n/a	chr6:2222686-2222697 chr6:2222686-2222695
40	CEBPB	chr6:2229389-2229527	A549	lung:	n/a	chr6:2229449-2229466
41	CEBPB	chr6:2243871-2244190	Hela-S3	cervix:	n/a	chr6:2244025-2244036 chr6:2244027-2244036 chr6:2244026-2244037 chr6:2244025-2244038
42	CEBPB	chr6:2221530-2221783	K562	blood:	n/a	chr6:2221670-2221681
43	CEBPB	chr6:2266000-2266040	A549	lung:	n/a	n/a
44	CEBPB	chr6:2225672-2226175	HepG2	liver:	n/a	chr6:2225945-2225958 chr6:2225947-2225958 chr6:2225947-2225958 chr6:2225945-2225958 chr6:2225945-2225956
45	CEBPB	chr6:2225819-2226070	Hela-S3	cervix:	n/a	chr6:2225945-2225956 chr6:2225947-2225958 chr6:2225945-2225958 chr6:2225947-2225958 chr6:2225945-2225958
46	CEBPB	chr6:2246431-2246764	HepG2	liver:	n/a	n/a
47	CEBPB	chr6:2243882-2244182	K562	blood:	n/a	chr6:2244025-2244036 chr6:2244027-2244036 chr6:2244026-2244037 chr6:2244025-2244038
48	CEBPB	chr6:2265928-2266166	HepG2	liver:	n/a	n/a
49	CEBPB	chr6:2204776-2204904	Hela-S3	cervix:	n/a	chr6:2204829-2204840
50	CEBPB	chr6:2229443-2229537	H1-hESC	embryonic stem cell:	n/a	chr6:2229449-2229466

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:2244766-2244816	AG04449	skin:	fetal
2	chr6:2246077-2246127	Hela-S3	cervix:	n/a
3	chr6:2244766-2244816	AG04449	skin:	fetal
4	chr6:2246077-2246127	Hela-S3	cervix:	n/a
5	chr6:2242748-2242798	GM12892	blood:	n/a
6	chr6:2242748-2242798	GM12891	blood:	n/a
7	chr6:2246152-2246202	BJ	skin:	n/a
8	chr6:2245849-2245899	HL-60	blood:	n/a
9	chr6:2245749-2245799	CMK	blood:	n/a
10	chr6:2223643-2223693	ECC-1	luminal epithelium:	n/a
11	chr6:2245749-2245799	HRPEpiC	eye:	n/a
12	chr6:2246152-2246202	SK-N-MC	brain:	n/a
13	chr6:2266427-2266477	HL-60	blood:	n/a
14	chr6:2237336-2237386	AG10803	skin:	n/a
15	chr6:2246553-2246603	HCM	heart:	n/a
16	chr6:2245749-2245799	HL-60	blood:	n/a
17	chr6:2242748-2242798	RPTEC	kidney:	n/a
18	chr6:2246077-2246127	GM12892	blood:	n/a
19	chr6:2223643-2223693	HPAEpiC	pulmonary alveolar:	n/a
20	chr6:2248207-2248257	GM12891	blood:	n/a
21	chr6:2237336-2237386	K562	blood:	n/a
22	chr6:2246553-2246603	GM06990	blood:	n/a
23	chr6:2246553-2246603	HRPEpiC	eye:	n/a
24	chr6:2245749-2245799	LNCaP	prostate:	n/a
25	chr6:2244766-2244816	HEEpiC	esophagus:	n/a
26	chr6:2245854-2245904	GM19239	blood:	n/a
27	chr6:2230313-2230363	ECC-1	luminal epithelium:	n/a
28	chr6:2245849-2245899	CMK	blood:	n/a
29	chr6:2246553-2246603	NB4	blood:	n/a
30	chr6:2245327-2245377	HPAEpiC	pulmonary alveolar:	n/a
31	chr6:2246077-2246127	HRPEpiC	eye:	n/a
32	chr6:2246062-2246112	GM12892	blood:	n/a
33	chr6:2248207-2248257	NH-A	brain:	n/a
34	chr6:2223643-2223693	A549	lung:	n/a
35	chr6:2245854-2245904	MCF10A-Er-Src	breast:	n/a
36	chr6:2230313-2230363	HEEpiC	esophagus:	n/a
37	chr6:2245849-2245899	GM12878	blood:	n/a
38	chr6:2246062-2246112	HCM	heart:	n/a
39	chr6:2245854-2245904	HAEpiC	amniotic membrane:	n/a
40	chr6:2242748-2242798	HIPEpiC	eye:	n/a
41	chr6:2246152-2246202	GM12892	blood:	n/a
42	chr6:2242748-2242798	SAEC	small airway:	n/a
43	chr6:2244766-2244816	A549	lung:	n/a
44	chr6:2266427-2266477	NH-A	brain:	n/a
45	chr6:2237336-2237386	HUVEC	blood vessel:	n/a
46	chr6:2266427-2266477	GM12878	blood:	n/a
47	chr6:2246553-2246603	HCPEpiC	choroid plexus:	n/a
48	chr6:2266427-2266477	AG04450	lung:	fetal
49	chr6:2245854-2245904	ProgFib	skin:	n/a
50	chr6:2237336-2237386	ovcar-3	ovarian:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:2240186..2242640-chr6:2244127..2247003,3	K562	blood:
2	chr6:2237675..2240301-chr6:2244891..2246536,2	MCF-7	breast:
3	chr6:2235011..2238207-chr6:2241335..2245707,5	K562	blood:
4	chr5:180650449..180651104-chr6:2245494..2246192,2	NB4	blood:
5	chr6:2243938..2247142-chr6:2264459..2268782,4	MCF-7	breast:
6	chr6:2222298..2224652-chr6:2235622..2237446,2	MCF-7	breast:
7	chr6:2231926..2234637-chr6:2242249..2244795,3	MCF-7	breast:
8	chr6:2241571..2243321-chr6:2248990..2251282,2	MCF-7	breast:
9	chr6:2209920..2212412-chr6:2215511..2218322,2	MCF-7	breast:
10	chr6:2241705..2244188-chr6:2244714..2246548,2	MCF-7	breast:
11	chr6:2235011..2238207-chr6:2241335..2245707,5	K562	blood:
12	chr6:2197465..2199923-chr6:2202426..2204312,2	K562	blood:
13	chr6:2217534..2219085-chr6:2231470..2233628,2	MCF-7	breast:
14	chr6:2250207..2252931-chr6:2253285..2256060,3	K562	blood:
15	chr6:2244435..2247412-chr6:2262335..2264003,2	MCF-7	breast:
16	chr6:2263398..2266340-chr6:2266756..2269445,2	K562	blood:
17	chr6:2209248..2209782-chr6:2356303..2356963,2	K562	blood:
18	chr6:2223748..2225261-chr6:2229419..2232033,2	K562	blood:
19	chr6:2226252..2228883-chr6:2229316..2232296,2	MCF-7	breast:
20	chr6:2197465..2200771-chr6:2202426..2205380,3	K562	blood:
21	chr6:2218011..2220266-chr6:2224159..2226016,2	K562	blood:
22	chr6:2204132..2205866-chr6:2208927..2211654,2	MCF-7	breast:
23	chr6:2209920..2212412-chr6:2215511..2218322,2	MCF-7	breast:
24	chr6:2241571..2243321-chr6:2248990..2251282,2	MCF-7	breast:
25	chr6:2244795..2247987-chr6:2252764..2255818,5	MCF-7	breast:
26	chr6:2232725..2235057-chr6:2241129..2244021,2	MCF-7	breast:
27	chr6:2193645..2196467-chr6:2198133..2199923,2	K562	blood:
28	chr6:2244284..2247491-chr6:2247756..2249566,3	K562	blood:
29	chr6:2239677..2242636-chr6:2266215..2268461,2	K562	blood:
30	chr6:2223759..2225696-chr6:2243552..2246152,2	MCF-7	breast:
31	chr6:2245961..2247714-chr7:148785779..148788707,2	MCF-7	breast:
32	chr6:2225998..2228702-chr6:2230622..2232847,2	MCF-7	breast:
33	chr6:2209949..2210703-chr6:2634387..2635054,2	MCF-7	breast:
34	chr6:2249021..2251510-chr6:2257957..2260606,2	MCF-7	breast:
35	chr6:2235665..2237957-chr6:2241692..2244945,3	K562	blood:
36	chr6:2205414..2205914-chr9:88555907..88556701,2	Hela-S3	cervix:
37	chr6:2231926..2234637-chr6:2242249..2244795,3	MCF-7	breast:
38	chr6:2229616..2232069-chr6:2244990..2246966,2	MCF-7	breast:
39	chr6:1610226..1612601-chr6:2208611..2210628,2	MCF-7	breast:
40	chr6:2248443..2250050-chr6:2251800..2254441,2	MCF-7	breast:
41	chr6:2263398..2266340-chr6:2266756..2269445,2	K562	blood:
42	chr6:2209266..2210149-chr6:2448969..2449652,2	MCF-7	breast:
43	chr6:2217534..2219085-chr6:2231470..2233628,2	MCF-7	breast:
44	chr6:2235665..2237957-chr6:2241692..2244945,3	K562	blood:
45	chr6:2222298..2224652-chr6:2235622..2237446,2	MCF-7	breast:
46	chr6:2239411..2242031-chr6:2243172..2247003,4	K562	blood:
47	chr3:52321502..52322345-chr6:2245845..2246762,2	Hela-S3	cervix:
48	chr6:2209417..2210065-chr6:2353870..2354459,2	MCF-7	breast:
49	chr6:2197465..2199923-chr6:2202426..2204312,2	K562	blood:
50	chr6:2208755..2210162-chr6:2353819..2354792,15	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRNIP1-2	chr6:2246060-2246164	XLOC_005126
2	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
3	lnc-WRNIP1-39	chr6:2228732-2229007	ucscGeneNc_uc003mts_1
4	lnc-WRNIP1-2	chr6:2246016-2246164	ENSG00000250903
5	lnc-WRNIP1-2	chr6:2246089-2246164	ENSG00000250903
6	lnc-WRNIP1-38	chr6:2232817-2233730	NONHSAT106615
7	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
8	lnc-WRNIP1-2	chr6:2246033-2246164	XLOC_005126
9	lnc-WRNIP1-2	chr6:2246087-2246164	ENSG00000250903
10	lnc-WRNIP1-2	chr6:2246032-2246164	XLOC_005126
11	lnc-WRNIP1-38	chr6:2227986-2228048	NONHSAT106615
12	lnc-WRNIP1-2	chr6:2263835-2263918	NONHSAT106620
13	lnc-WRNIP1-2	chr6:2245982-2246164	ENSG00000250903
14	lnc-WRNIP1-38	chr6:2232817-2233509	NONHSAT106616
15	lnc-GMDS-5	chr6:2263835-2263918	NONHSAT106634
16	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
17	lnc-WRNIP1-2	chr6:2263835-2264362	ENSG00000250903
18	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
19	lnc-WRNIP1-39	chr6:2208834-2208917	ucscGeneNc_uc003mts_1
20	lnc-WRNIP1-38	chr6:2228225-2228248	NONHSAT106616
21	lnc-WRNIP1-2	chr6:2246028-2246164	XLOC_005126
22	lnc-WRNIP1-39	chr6:2214931-2215032	ucscGeneNc_uc003mts_1
23	lnc-WRNIP1-2	chr6:2245996-2246164	XLOC_005126
24	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
25	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
26	lnc-WRNIP1-2	chr6:2246024-2246164	NONHSAT106627
27	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
28	lnc-WRNIP1-2	chr6:2249071-2249160	NONHSAT106627
29	lnc-WRNIP1-2	chr6:2263835-2263918	NONHSAT106627
30	lnc-WRNIP1-2	chr6:2246059-2246164	ENSG00000250903
31	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
32	lnc-WRNIP1-3	chr6:2244111-2245348	ENSG00000246005
33	lnc-GMDS-5	chr6:2259533-2260309	NONHSAT106634
34	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
35	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
36	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
37	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
38	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
39	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
40	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
41	lnc-WRNIP1-2	chr6:2245987-2246164	NONHSAT106620
42	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
43	lnc-WRNIP1-38	chr6:2229900-2229929	NONHSAT106615
44	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
45	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
46	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
47	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
48	lnc-WRNIP1-2	chr6:2249071-2249160	NONHSAT106620
49	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
50	lnc-WRNIP1-39	chr6:2217049-2218650	ucscGeneNc_uc003mts_1

No data

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

Extended variants
information (count: 2636 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2636 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554559805	chr6:2199668-2199669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144637947	chr6:2199723-2199724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542610049	chr6:2199733-2199734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373082127	chr6:2199739-2199740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559795469	chr6:2199762-2199763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182801268	chr6:2199803-2199804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545540171	chr6:2199871-2199872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188414835	chr6:2199885-2199886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565406186	chr6:2199904-2199905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530995883	chr6:2199909-2199910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551194901	chr6:2199939-2199940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs234949	chr6:2199948-2199949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs558651386	chr6:2199974-2199975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7738487	chr6:2200054-2200055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371939068	chr6:2200077-2200078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192892053	chr6:2200095-2200096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532304528	chr6:2200097-2200098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566144863	chr6:2200184-2200185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538316307	chr6:2200187-2200188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551843588	chr6:2200203-2200204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568654974	chr6:2200211-2200212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138603199	chr6:2200213-2200214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs234950	chr6:2200224-2200225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553893960	chr6:2200268-2200269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577000629	chr6:2200299-2200300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386696118	chr6:2200316-2200317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534110607	chr6:2200318-2200319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553375343	chr6:2200337-2200338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575545145	chr6:2200525-2200526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140650854	chr6:2200542-2200543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183143186	chr6:2200558-2200559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575738172	chr6:2200585-2200586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544431049	chr6:2200586-2200587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143780601	chr6:2200595-2200596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530293296	chr6:2200644-2200645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546908916	chr6:2200654-2200655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187840036	chr6:2200655-2200656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531975301	chr6:2200660-2200661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115296468	chr6:2200673-2200674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568814601	chr6:2200714-2200715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537956322	chr6:2200718-2200719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148163729	chr6:2200734-2200735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531469621	chr6:2200735-2200736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200319763	chr6:2200814-2200815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554092930	chr6:2200821-2200822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577250947	chr6:2200829-2200830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539031163	chr6:2200845-2200846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558994494	chr6:2200862-2200863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7757356	chr6:2200872-2200873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs33917052	chr6:2200888-2200889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

Chromatin state (count:1902 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2189600-2202800	Weak transcription	Pancreas	Pancrea
2	chr6:2191200-2203400	Weak transcription	Primary T cells from cord blood	blood
3	chr6:2192800-2222000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:2193800-2206600	Weak transcription	Fetal Intestine Small	intestine
5	chr6:2193800-2216800	Weak transcription	Gastric	stomach
6	chr6:2195200-2202800	Weak transcription	Aorta	Aorta
7	chr6:2197000-2202600	Weak transcription	HepG2	liver
8	chr6:2197400-2222000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:2197600-2202800	Weak transcription	Spleen	Spleen
10	chr6:2197800-2202800	Weak transcription	Left Ventricle	heart
11	chr6:2197800-2209400	Weak transcription	Stomach Mucosa	stomach
12	chr6:2198000-2202400	Weak transcription	Adipose Nuclei	Adipose
13	chr6:2198000-2202800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:2198000-2203200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:2198000-2203400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:2198000-2206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:2198200-2202800	Weak transcription	Right Atrium	heart
18	chr6:2198600-2203400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:2198800-2202800	Weak transcription	HUVEC	blood vessel
20	chr6:2202400-2204200	Enhancers	Adipose Nuclei	Adipose
21	chr6:2202600-2203400	Strong transcription	HepG2	liver
22	chr6:2202800-2203000	Enhancers	Aorta	Aorta
23	chr6:2202800-2203000	Enhancers	Psoas Muscle	Psoas
24	chr6:2202800-2203000	Active TSS	Spleen	Spleen
25	chr6:2202800-2203200	Enhancers	Left Ventricle	heart
26	chr6:2202800-2203200	Enhancers	Pancreas	Pancrea
27	chr6:2202800-2203200	Enhancers	Right Atrium	heart
28	chr6:2202800-2203200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:2202800-2204600	Enhancers	HUVEC	blood vessel
30	chr6:2203000-2204200	Enhancers	Primary hematopoietic stem cells	blood
31	chr6:2203000-2204400	Weak transcription	Aorta	Aorta
32	chr6:2203000-2209600	Weak transcription	Psoas Muscle	Psoas
33	chr6:2203200-2204200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:2203200-2204400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:2203400-2203600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:2203400-2203800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:2203400-2206800	Weak transcription	HepG2	liver
38	chr6:2203600-2203800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:2203800-2204200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:2204200-2208600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:2206600-2207000	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr6:2206800-2207600	Strong transcription	HepG2	liver
43	chr6:2207000-2222000	Weak transcription	Fetal Intestine Small	intestine
44	chr6:2207600-2209400	Weak transcription	HepG2	liver
45	chr6:2208200-2208400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr6:2208400-2222000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr6:2208600-2209800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:2208800-2209400	Enhancers	Osteobl	bone
49	chr6:2209400-2210000	Enhancers	Stomach Mucosa	stomach
50	chr6:2209400-2210400	Enhancers	HepG2	liver

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