Variant report

Variant	esv2763526
Chromosome Location	chr6:2230064-2311916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:907)
CpG islands
(count:915)
Chromatin interactive
region (count:49)
LncRNA
region (count:85)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:907 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:2293538-2293631	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	ATF1	chr6:2245737-2246654	K562	blood:	n/a	n/a
5	ATF2	chr6:2232560-2233069	GM12878	blood:	n/a	n/a
6	ATF3	chr6:2245728-2246033	K562	blood:	n/a	chr6:2245730-2245744 chr6:2245844-2245853
7	BACH1	chr6:2271489-2271498	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr6:2245130-2245916	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL11A	chr6:2310374-2310685	GM12878	blood:	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	chr6:2245113-2246812	K562	blood:	n/a	chr6:2245835-2245851 chr6:2246639-2246655
14	BHLHE40	chr6:2245136-2246123	GM12878	blood:	n/a	chr6:2245835-2245851
15	BHLHE40	chr6:2245104-2246828	HepG2	liver:	n/a	chr6:2245835-2245851 chr6:2246639-2246655
16	BHLHE40	chr6:2246336-2246701	GM12878	blood:	n/a	chr6:2246639-2246655
17	BHLHE40	chr6:2275952-2276150	K562	blood:	n/a	chr6:2276045-2276054 chr6:2276045-2276054
18	BRCA1	chr6:2245737-2246792	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr6:2246545-2246820	HepG2	liver:	n/a	n/a
20	BRCA1	chr6:2243909-2244064	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	chr6:2245739-2246147	HepG2	liver:	n/a	n/a
24	BRCA1	chr6:2246100-2246260	GM12878	blood:	n/a	n/a
25	BRCA1	chr6:2245877-2245928	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr6:2237262-2237709	Hela-S3	cervix:	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	chr6:2265960-2266156	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr6:2259227-2259544	HepG2	liver:	n/a	n/a
31	CEBPB	chr6:2238486-2238640	HepG2	liver:	n/a	chr6:2238567-2238578
32	CEBPB	chr6:2265928-2266166	HepG2	liver:	n/a	n/a
33	CEBPB	chr6:2266000-2266040	A549	lung:	n/a	n/a
34	CEBPB	chr6:2246431-2246764	HepG2	liver:	n/a	n/a
35	CEBPB	chr6:2265213-2265499	IMR90	lung:	n/a	n/a
36	CEBPB	chr6:2259173-2259573	HepG2	liver:	n/a	n/a
37	CEBPB	chr6:2237243-2237671	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr6:2243882-2244182	K562	blood:	n/a	chr6:2244025-2244036 chr6:2244027-2244036 chr6:2244026-2244037 chr6:2244025-2244038
39	CEBPB	chr6:2237304-2237665	IMR90	lung:	n/a	n/a
40	CEBPB	chr6:2243866-2244174	HepG2	liver:	n/a	chr6:2244025-2244036 chr6:2244027-2244036 chr6:2244026-2244037 chr6:2244025-2244038
41	CEBPB	chr6:2243873-2244156	IMR90	lung:	n/a	chr6:2244025-2244036 chr6:2244027-2244036 chr6:2244026-2244037 chr6:2244025-2244038
42	CEBPB	chr6:2243871-2244190	Hela-S3	cervix:	n/a	chr6:2244025-2244036 chr6:2244027-2244036 chr6:2244026-2244037 chr6:2244025-2244038
43	CEBPB	chr6:2259202-2259439	HepG2	liver:	n/a	n/a
44	CEBPB	chr6:2243905-2244121	A549	lung:	n/a	chr6:2244025-2244036 chr6:2244027-2244036 chr6:2244026-2244037 chr6:2244025-2244038
45	CEBPD	chr6:2245644-2246100	HepG2	liver:	n/a	n/a
46	CEBPD	chr6:2245473-2246244	HepG2	liver:	n/a	n/a
47	CHD1	chr6:2245110-2245293	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD1	chr6:2246013-2246760	GM12878	blood:	n/a	n/a
49	CHD1	chr6:2245569-2245756	GM12878	blood:	n/a	n/a
50	CHD2	chr6:2245368-2246318	GM12878	blood:	n/a	chr6:2245845-2245855

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:2245849-2245899	AG10803	skin:	n/a
2	chr6:2246553-2246603	AG04449	skin:	fetal
3	chr6:2237336-2237386	SK-N-SH	brain:	n/a
4	chr6:2246077-2246127	HPAEpiC	pulmonary alveolar:	n/a
5	chr6:2245327-2245377	HAEpiC	amniotic membrane:	n/a
6	chr6:2246553-2246603	MCF10A-Er-Src	breast:	n/a
7	chr6:2244766-2244816	Hela-S3	cervix:	n/a
8	chr6:2248207-2248257	HL-60	blood:	n/a
9	chr6:2266427-2266477	HMEC	breast:	n/a
10	chr6:2246152-2246202	ovcar-3	ovarian:	n/a
11	chr6:2246077-2246127	HepG2	liver:	n/a
12	chr6:2246077-2246127	NHDF-neo	bronchial:	n/a
13	chr6:2242748-2242798	HCM	heart:	n/a
14	chr6:2246077-2246127	HCPEpiC	choroid plexus:	n/a
15	chr6:2248207-2248257	AG10803	skin:	n/a
16	chr6:2266427-2266477	NT2-D1	testis:	n/a
17	chr6:2246077-2246127	RPTEC	kidney:	n/a
18	chr6:2245854-2245904	K562	blood:	n/a
19	chr6:2245854-2245904	SKMC	muscle:	n/a
20	chr6:2246077-2246127	AG09309	skin:	n/a
21	chr6:2245327-2245377	NH-A	brain:	n/a
22	chr6:2245327-2245377	BJ	skin:	n/a
23	chr6:2245854-2245904	Hepatocyte	liver:	n/a
24	chr6:2297047-2297097	ECC-1	luminal epithelium:	n/a
25	chr6:2242748-2242798	GM06990	blood:	n/a
26	chr6:2246152-2246202	MCF10A-Er-Src	breast:	n/a
27	chr6:2246062-2246112	PANC-1	pancreas:	n/a
28	chr6:2230313-2230363	HCT-116	colon:	n/a
29	chr6:2246553-2246603	SK-N-SH_RA	brain:	n/a
30	chr6:2230313-2230363	PFSK-1	brain:	n/a
31	chr6:2245749-2245799	HAEpiC	amniotic membrane:	n/a
32	chr6:2248207-2248257	A549	lung:	n/a
33	chr6:2245327-2245377	NB4	blood:	n/a
34	chr6:2237336-2237386	IMR90	lung:	fetal
35	chr6:2230313-2230363	PrEC	prostate:	n/a
36	chr6:2237336-2237386	AoSMC	blood vessel:	n/a
37	chr6:2230313-2230363	HEEpiC	esophagus:	n/a
38	chr6:2244766-2244816	HL-60	blood:	n/a
39	chr6:2245327-2245377	HRPEpiC	eye:	n/a
40	chr6:2245849-2245899	AG09309	skin:	n/a
41	chr6:2245749-2245799	ECC-1	luminal epithelium:	n/a
42	chr6:2242748-2242798	NT2-D1	testis:	n/a
43	chr6:2246077-2246127	ProgFib	skin:	n/a
44	chr6:2237336-2237386	SKMC	muscle:	n/a
45	chr6:2245327-2245377	AG04450	lung:	fetal
46	chr6:2245854-2245904	CMK	blood:	n/a
47	chr6:2246553-2246603	MCF-7	breast:	n/a
48	chr6:2246152-2246202	AG09309	skin:	n/a
49	chr6:2230313-2230363	Hela-S3	cervix:	n/a
50	chr6:2230313-2230363	NB4	blood:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:2259328..2261334-chr6:2262828..2265000,2	MCF-7	breast:
2	chr6:2244284..2247491-chr6:2247756..2249566,3	K562	blood:
3	chr6:2248443..2250050-chr6:2251800..2254441,2	MCF-7	breast:
4	chr6:2245961..2247714-chr7:148785779..148788707,2	MCF-7	breast:
5	chr6:2244795..2247987-chr6:2252764..2255818,5	MCF-7	breast:
6	chr6:2235665..2237957-chr6:2241692..2244945,3	K562	blood:
7	chr6:2245971..2248921-chr6:2250895..2252497,2	K562	blood:
8	chr6:2259328..2261334-chr6:2262828..2265000,2	MCF-7	breast:
9	chr6:2235011..2238207-chr6:2241335..2245707,5	K562	blood:
10	chr6:2249021..2251510-chr6:2257957..2260606,2	MCF-7	breast:
11	chr6:2239677..2242636-chr6:2266215..2268461,2	K562	blood:
12	chr6:2232725..2235057-chr6:2241129..2244021,2	MCF-7	breast:
13	chr6:2263398..2266340-chr6:2266756..2269445,2	K562	blood:
14	chr6:2229616..2232069-chr6:2244990..2246966,2	MCF-7	breast:
15	chr6:2223748..2225261-chr6:2229419..2232033,2	K562	blood:
16	chr6:2250207..2252931-chr6:2253285..2256060,3	K562	blood:
17	chr6:2217534..2219085-chr6:2231470..2233628,2	MCF-7	breast:
18	chr6:2235011..2238207-chr6:2241335..2245707,5	K562	blood:
19	chr6:2244435..2247412-chr6:2262335..2264003,2	MCF-7	breast:
20	chr6:2241571..2243321-chr6:2248990..2251282,2	MCF-7	breast:
21	chr6:2232433..2234293-chr6:2243795..2247011,3	K562	blood:
22	chr6:2241571..2243321-chr6:2248990..2251282,2	MCF-7	breast:
23	chr6:2239677..2242636-chr6:2266215..2268461,2	K562	blood:
24	chr6:2232725..2235057-chr6:2241129..2244021,2	MCF-7	breast:
25	chr6:2235665..2237957-chr6:2241692..2244945,3	K562	blood:
26	chr6:2263398..2266340-chr6:2266756..2269445,2	K562	blood:
27	chr6:2232433..2234577-chr6:2244238..2247011,2	K562	blood:
28	chr6:2237184..2240697-chr6:2242181..2246031,5	MCF-7	breast:
29	chr6:2226252..2228883-chr6:2229316..2232296,2	MCF-7	breast:
30	chr6:2239411..2242031-chr6:2243172..2247003,4	K562	blood:
31	chr6:2248443..2250050-chr6:2251800..2254441,2	MCF-7	breast:
32	chr6:2249021..2251510-chr6:2257957..2260606,2	MCF-7	breast:
33	chr6:2271315..2274254-chr6:2275428..2277521,2	K562	blood:
34	chr6:2250207..2252931-chr6:2253285..2256060,3	K562	blood:
35	chr6:2225998..2228702-chr6:2230622..2232847,2	MCF-7	breast:
36	chr3:52321502..52322345-chr6:2245845..2246762,2	Hela-S3	cervix:
37	chr6:2231926..2234637-chr6:2242249..2244795,3	MCF-7	breast:
38	chr6:2237675..2240301-chr6:2244891..2246536,2	MCF-7	breast:
39	chr6:1554542..1557319-chr6:2236589..2238217,2	MCF-7	breast:
40	chr17:56707904..56710357-chr6:2244331..2245870,2	MCF-7	breast:
41	chr6:2231926..2234637-chr6:2242249..2244795,3	MCF-7	breast:
42	chr6:2244284..2246271-chr6:2246300..2249565,3	K562	blood:
43	chr5:180650449..180651104-chr6:2245494..2246192,2	NB4	blood:
44	chr6:1608353..1611335-chr6:2245492..2248463,2	MCF-7	breast:
45	chr6:2241705..2244188-chr6:2244714..2246548,2	MCF-7	breast:
46	chr6:2271315..2274254-chr6:2275428..2277521,2	K562	blood:
47	chr6:2222298..2224652-chr6:2235622..2237446,2	MCF-7	breast:
48	chr6:2240186..2242640-chr6:2244127..2247003,3	K562	blood:
49	chr6:2243938..2247142-chr6:2264459..2268782,4	MCF-7	breast:

(count:85 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRNIP1-2	chr6:2245987-2246164	NONHSAT106620
2	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
3	lnc-WRNIP1-2	chr6:2269932-2270033	ENSG00000250903
4	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
5	lnc-WRNIP1-2	chr6:2283767-2283997	NONHSAT106637
6	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
7	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
8	lnc-WRNIP1-2	chr6:2246087-2246164	ENSG00000250903
9	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
10	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
11	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
12	lnc-WRNIP1-2	chr6:2306434-2306439	XLOC_005126
13	lnc-WRNIP1-2	chr6:2263835-2263918	ENSG00000250903
14	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
15	lnc-WRNIP1-2	chr6:2245996-2246164	XLOC_005126
16	lnc-WRNIP1-2	chr6:2269932-2270033	XLOC_005126
17	lnc-WRNIP1-38	chr6:2232817-2233730	NONHSAT106615
18	lnc-WRNIP1-2	chr6:2273312-2273651	XLOC_005126
19	lnc-WRNIP1-2	chr6:2245996-2246164	XLOC_005126
20	lnc-WRNIP1-2	chr6:2269932-2270033	ENSG00000250903
21	lnc-WRNIP1-2	chr6:2246011-2246164	ENSG00000250903
22	lnc-WRNIP1-2	chr6:2246059-2246164	ENSG00000250903
23	lnc-WRNIP1-2	chr6:2249071-2249160	NONHSAT106627
24	lnc-GMDS-5	chr6:2273526-2273562	NONHSAT106634
25	lnc-WRNIP1-2	chr6:2245982-2246164	ENSG00000250903
26	lnc-WRNIP1-2	chr6:2283733-2283892	XLOC_005126
27	lnc-WRNIP1-2	chr6:2306527-2306760	ENSG00000250903
28	lnc-WRNIP1-2	chr6:2246016-2246164	ENSG00000250903
29	lnc-GMDS-1	chr6:2272911-2272931	XLOC_005578
30	lnc-WRNIP1-2	chr6:2246060-2246164	XLOC_005126
31	lnc-WRNIP1-2	chr6:2269932-2270033	ENSG00000250903
32	lnc-WRNIP1-2	chr6:2272050-2272114	XLOC_005126
33	lnc-GMDS-5	chr6:2269932-2270247	NONHSAT106634
34	lnc-WRNIP1-2	chr6:2283733-2284008	XLOC_005126
35	lnc-WRNIP1-2	chr6:2246089-2246164	ENSG00000250903
36	lnc-WRNIP1-2	chr6:2246028-2246164	XLOC_005126
37	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
38	lnc-WRNIP1-2	chr6:2263835-2263918	NONHSAT106627
39	lnc-WRNIP1-2	chr6:2263835-2263918	XLOC_005126
40	lnc-WRNIP1-2	chr6:2269932-2270247	ENSG00000250903
41	lnc-WRNIP1-2	chr6:2272050-2273651	ENSG00000250903
42	lnc-WRNIP1-2	chr6:2249071-2249160	ENSG00000250903
43	lnc-WRNIP1-2	chr6:2249071-2249160	XLOC_005126
44	lnc-WRNIP1-2	chr6:2246024-2246164	NONHSAT106627
45	lnc-WRNIP1-2	chr6:2263835-2264362	ENSG00000250903
46	lnc-WRNIP1-2	chr6:2246033-2246164	XLOC_005126
47	lnc-WRNIP1-2	chr6:2249130-2249160	XLOC_005126
48	lnc-WRNIP1-2	chr6:2283733-2283997	XLOC_005126
49	lnc-GMDS-5	chr6:2259533-2260309	NONHSAT106634
50	lnc-WRNIP1-2	chr6:2283751-2283816	XLOC_005126

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
ENSG00000164091	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000250903	chromatin interactions
ENSG00000054598	chromatin interactions
ENSG00000197362	chromatin interactions
ENSG00000112699	chromatin interactions
ENSG00000212195	chromatin interactions
ATXN7L3	miRNA target sites
DCAF8	miRNA target sites
SC5DL	miRNA target sites
B3GNT2	miRNA target sites
RAB13	miRNA target sites
CLIP1	miRNA target sites
IRF5	miRNA target sites
ATXN7L1	miRNA target sites
LMNA	miRNA target sites
SPCS3	miRNA target sites
GSTK1	miRNA target sites
VAMP3	miRNA target sites
PCNT	miRNA target sites
CDK4	miRNA target sites
ARL4A	miRNA target sites
CDK2	miRNA target sites
PCBP2	miRNA target sites
SLC19A2	miRNA target sites
TRIB3	miRNA target sites
NR3C1	miRNA target sites
MYCN	miRNA target sites
PICALM	miRNA target sites
NR5A2	miRNA target sites
LYRM7	miRNA target sites
GPR172A	miRNA target sites
RGS17	miRNA target sites
LRRC2	miRNA target sites
PAPOLA	miRNA target sites
STX7	miRNA target sites
FAM82A2	miRNA target sites
BMPR2	miRNA target sites
SMAD4	miRNA target sites
BIRC6	miRNA target sites

Extended variants
information (count: 3054 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:3054 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9405550	chr6:2230064-2230065	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561140316	chr6:2230126-2230127	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs184124450	chr6:2230131-2230132	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs546952504	chr6:2230172-2230173	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs386696122	chr6:2230233-2230234	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs371435464	chr6:2230252-2230253	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs551539490	chr6:2230253-2230254	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200047292	chr6:2230254-2230255	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs200961400	chr6:2230255-2230256	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571724250	chr6:2230292-2230293	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs386696123	chr6:2230294-2230295	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs116392330	chr6:2230295-2230296	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576082674	chr6:2230297-2230298	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567553492	chr6:2230313-2230314	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs377564452	chr6:2230314-2230315	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs553296841	chr6:2230334-2230335	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs541475803	chr6:2230335-2230336	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs561454655	chr6:2230339-2230340	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs115159216	chr6:2230394-2230395	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs73420775	chr6:2230396-2230397	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192738547	chr6:2230420-2230421	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs575321241	chr6:2230447-2230448	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544005735	chr6:2230463-2230464	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs561051322	chr6:2230487-2230488	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs574729663	chr6:2230521-2230522	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs540529846	chr6:2230544-2230545	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560466548	chr6:2230575-2230576	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528435512	chr6:2230636-2230637	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs2295009	chr6:2230645-2230646	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs540645412	chr6:2230661-2230662	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs4467817	chr6:2230662-2230663	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564781779	chr6:2230720-2230721	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs533493081	chr6:2230769-2230770	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs183963893	chr6:2230833-2230834	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs550834675	chr6:2230935-2230936	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs567516630	chr6:2230955-2230956	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs536448195	chr6:2230973-2230974	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs2295008	chr6:2230989-2230990	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2295007	chr6:2231061-2231062	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538229750	chr6:2231092-2231093	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs566882206	chr6:2231099-2231100	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs146487054	chr6:2231171-2231172	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs199793847	chr6:2231175-2231176	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs56658390	chr6:2231187-2231188	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs138171128	chr6:2231195-2231196	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs575168693	chr6:2231262-2231263	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs76627546	chr6:2231264-2231265	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs554751886	chr6:2231305-2231306	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs6925655	chr6:2231317-2231318	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs540438639	chr6:2231330-2231331	Weak transcription Enhancers Flanking Active TSS	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:1861 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2217400-2231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:2217400-2231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:2222600-2231400	Weak transcription	Aorta	Aorta
4	chr6:2222600-2244400	Weak transcription	Fetal Stomach	stomach
5	chr6:2222600-2244600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:2222800-2243800	Weak transcription	Primary T cells from cord blood	blood
7	chr6:2223000-2230400	Enhancers	Stomach Mucosa	stomach
8	chr6:2223000-2231800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:2223200-2230200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:2223200-2231200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:2223200-2231400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr6:2223200-2231400	Weak transcription	Spleen	Spleen
13	chr6:2223200-2231600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr6:2223200-2233000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:2223800-2231600	Weak transcription	Lung	lung
16	chr6:2226000-2231200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:2226200-2231200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:2226200-2231200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:2226200-2231200	Weak transcription	NH-A	brain
20	chr6:2226400-2231400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:2226600-2231400	Weak transcription	Psoas Muscle	Psoas
22	chr6:2226600-2231400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:2226600-2231600	Weak transcription	HUVEC	blood vessel
24	chr6:2226800-2231600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:2227200-2231200	Weak transcription	Osteobl	bone
26	chr6:2227200-2231400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:2227200-2236200	Weak transcription	Hela-S3	cervix
28	chr6:2227800-2239800	Weak transcription	Fetal Intestine Small	intestine
29	chr6:2228200-2230600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:2228200-2231400	Weak transcription	Colonic Mucosa	Colon
31	chr6:2228200-2236400	Weak transcription	Pancreas	Pancrea
32	chr6:2228600-2243800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:2229000-2230600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:2229200-2230200	Enhancers	GM12878-XiMat	blood
35	chr6:2229200-2230600	Enhancers	HMEC	breast
36	chr6:2229200-2231400	Weak transcription	Gastric	stomach
37	chr6:2229400-2230200	Enhancers	Placenta	Placenta
38	chr6:2229400-2232400	Enhancers	HepG2	liver
39	chr6:2229600-2230600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:2229600-2230600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr6:2229800-2230400	Enhancers	NHEK	skin
42	chr6:2229800-2230600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:2229800-2231200	Weak transcription	Small Intestine	intestine
44	chr6:2229800-2231600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:2229800-2231600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr6:2230000-2230200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr6:2230000-2230400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr6:2230000-2230400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:2230000-2230600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:2230000-2230800	Enhancers	HUES6 Cell Line	embryonic stem cell

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