Variant report

Variant	nsv561394
Chromosome Location	chr13:30911531-30951514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:998)
CpG islands
(count:732)
Chromatin interactive
region (count:39)
LncRNA
region (count:91)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:998 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:30938300-30938560	K562	blood:	n/a	n/a
2	ARID3A	chr13:30929686-30929823	HepG2	liver:	n/a	n/a
3	ARID3A	chr13:30937122-30937443	K562	blood:	n/a	n/a
4	ARID3A	chr13:30914926-30915259	K562	blood:	n/a	n/a
5	ATF1	chr13:30940279-30940479	K562	blood:	n/a	n/a
6	ATF2	chr13:30945597-30946598	GM12878	blood:	n/a	n/a
7	ATF2	chr13:30920526-30921044	GM12878	blood:	n/a	n/a
8	ATF2	chr13:30950614-30951428	GM12878	blood:	n/a	n/a
9	ATF2	chr13:30945600-30946526	GM12878	blood:	n/a	n/a
10	ATF3	chr13:30948044-30948193	K562	blood:	n/a	n/a
11	ATF3	chr13:30947986-30948156	GM12878	blood:	n/a	n/a
12	ATF3	chr13:30914594-30914950	K562	blood:	n/a	n/a
13	BACH1	chr13:30938280-30939048	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr13:30911427-30911581	K562	blood:	n/a	n/a
15	BACH1	chr13:30938267-30938587	K562	blood:	n/a	n/a
16	BATF	chr13:30945589-30946516	GM12878	blood:	n/a	n/a
17	BATF	chr13:30946066-30946419	GM12878	blood:	n/a	n/a
18	BATF	chr13:30945643-30946050	GM12878	blood:	n/a	n/a
19	BCL11A	chr13:30945656-30946478	GM12878	blood:	n/a	n/a
20	BCL11A	chr13:30945667-30946431	GM12878	blood:	n/a	n/a
21	BCL3	chr13:30945655-30946287	GM12878	blood:	n/a	n/a
22	BCLAF1	chr13:30945662-30946581	GM12878	blood:	n/a	n/a
23	BCLAF1	chr13:30945668-30946498	GM12878	blood:	n/a	n/a
24	BCLAF1	chr13:30950590-30951416	GM12878	blood:	n/a	n/a
25	BHLHE40	chr13:30911494-30911678	K562	blood:	n/a	n/a
26	BHLHE40	chr13:30950842-30951358	GM12878	blood:	n/a	n/a
27	BHLHE40	chr13:30936942-30937405	K562	blood:	n/a	chr13:30937147-30937163 chr13:30937139-30937155
28	BHLHE40	chr13:30947514-30948495	GM12878	blood:	n/a	n/a
29	BHLHE40	chr13:30945513-30946517	GM12878	blood:	n/a	n/a
30	BHLHE40	chr13:30949315-30949682	GM12878	blood:	n/a	n/a
31	BHLHE40	chr13:30937914-30938436	K562	blood:	n/a	n/a
32	BHLHE40	chr13:30947994-30948227	K562	blood:	n/a	n/a
33	BHLHE40	chr13:30914945-30915249	K562	blood:	n/a	n/a
34	BHLHE40	chr13:30945918-30946118	K562	blood:	n/a	n/a
35	BRCA1	chr13:30911446-30911702	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr13:30950767-30950961	GM12878	blood:	n/a	n/a
37	BRCA1	chr13:30947860-30948069	GM12878	blood:	n/a	n/a
38	BRCA1	chr13:30912525-30913172	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr13:30945571-30946400	GM12878	blood:	n/a	n/a
40	CBX3	chr13:30912180-30913181	HCT-116	colon:	n/a	n/a
41	CCNT2	chr13:30937925-30938613	K562	blood:	n/a	n/a
42	CCNT2	chr13:30937088-30937456	K562	blood:	n/a	n/a
43	CEBPB	chr13:30914638-30915164	K562	blood:	n/a	n/a
44	CEBPB	chr13:30914478-30915147	HCT-116	colon:	n/a	n/a
45	CEBPB	chr13:30927842-30928076	Hela-S3	cervix:	n/a	chr13:30927926-30927937
46	CEBPB	chr13:30914639-30915037	K562	blood:	n/a	n/a
47	CEBPB	chr13:30939328-30939697	HepG2	liver:	n/a	n/a
48	CEBPB	chr13:30914742-30914941	K562	blood:	n/a	n/a
49	CEBPB	chr13:30945210-30946524	GM12878	blood:	n/a	n/a
50	CEBPB	chr13:30914841-30915060	H1-hESC	embryonic stem cell:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:30948122-30948172	NHDF-neo	bronchial:	n/a
2	chr13:30948716-30948766	AG04450	lung:	fetal
3	chr13:30945876-30945926	AG09309	skin:	n/a
4	chr13:30948114-30948164	HL-60	blood:	n/a
5	chr13:30948716-30948766	HMEC	breast:	n/a
6	chr13:30938773-30938823	PrEC	prostate:	n/a
7	chr13:30949122-30949172	HUVEC	blood vessel:	n/a
8	chr13:30948114-30948164	GM12892	blood:	n/a
9	chr13:30938773-30938823	SK-N-SH	brain:	n/a
10	chr13:30948114-30948164	CMK	blood:	n/a
11	chr13:30945876-30945926	HCPEpiC	choroid plexus:	n/a
12	chr13:30911725-30911775	HIPEpiC	eye:	n/a
13	chr13:30951156-30951206	AG10803	skin:	n/a
14	chr13:30948103-30948153	HCPEpiC	choroid plexus:	n/a
15	chr13:30948716-30948766	HCPEpiC	choroid plexus:	n/a
16	chr13:30949122-30949172	NB4	blood:	n/a
17	chr13:30949122-30949172	AG04449	skin:	fetal
18	chr13:30951156-30951206	MCF-7	breast:	n/a
19	chr13:30951156-30951206	NH-A	brain:	n/a
20	chr13:30948122-30948172	T-47D	breast:	n/a
21	chr13:30948716-30948766	HNPCEpiC	eye:	n/a
22	chr13:30947713-30947763	HCF	heart:	n/a
23	chr13:30945876-30945926	HL-60	blood:	n/a
24	chr13:30911725-30911775	MCF10A-Er-Src	breast:	n/a
25	chr13:30951156-30951206	PFSK-1	brain:	n/a
26	chr13:30915492-30915542	HRE	kidney:	n/a
27	chr13:30938773-30938823	SKMC	muscle:	n/a
28	chr13:30951156-30951206	NB4	blood:	n/a
29	chr13:30949122-30949172	IMR90	lung:	fetal
30	chr13:30948103-30948153	SKMC	muscle:	n/a
31	chr13:30948716-30948766	BE2_C	brain:	n/a
32	chr13:30938773-30938823	HCM	heart:	n/a
33	chr13:30951156-30951206	PANC-1	pancreas:	n/a
34	chr13:30949122-30949172	BE2_C	brain:	n/a
35	chr13:30948122-30948172	HEK293	kidney:	embryo
36	chr13:30948716-30948766	NH-A	brain:	n/a
37	chr13:30913080-30913130	NT2-D1	testis:	n/a
38	chr13:30945876-30945926	NHBE	bronchial:	n/a
39	chr13:30948122-30948172	U87	brain:	n/a
40	chr13:30948122-30948172	GM06990	blood:	n/a
41	chr13:30911725-30911775	BJ	skin:	n/a
42	chr13:30945876-30945926	HEK293	kidney:	embryo
43	chr13:30948114-30948164	HPAEpiC	pulmonary alveolar:	n/a
44	chr13:30913080-30913130	Hepatocyte	liver:	n/a
45	chr13:30913080-30913130	MCF-7	breast:	n/a
46	chr13:30913080-30913130	Jurkat	blood:	n/a
47	chr13:30949122-30949172	BJ	skin:	n/a
48	chr13:30911725-30911775	Caco-2	colon:	n/a
49	chr13:30913080-30913130	CMK	blood:	n/a
50	chr13:30947713-30947763	HEK293	kidney:	embryo

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:30916466..30917984-chr13:30920808..30923180,2	K562	blood:
2	chr13:30921585..30925403-chr13:30932567..30935166,3	MCF-7	breast:
3	chr13:30914887..30916823-chr13:31040632..31043007,2	K562	blood:
4	chr13:30929514..30930103-chr13:31147145..31147693,2	MCF-7	breast:
5	chr13:30929684..30931209-chr13:30944876..30947757,2	K562	blood:
6	chr13:30909466..30912053-chr13:31038321..31040387,2	MCF-7	breast:
7	chr13:30931592..30933734-chr13:30934646..30937027,2	K562	blood:
8	chr13:30923881..30925403-chr13:30927155..30930021,2	K562	blood:
9	chr13:30942863..30945077-chr13:30948262..30949863,2	K562	blood:
10	chr13:30880965..30883044-chr13:30919310..30921357,2	MCF-7	breast:
11	chr13:30914167..30916233-chr13:30944919..30947715,2	K562	blood:
12	chr13:30921585..30925403-chr13:30932567..30935166,3	MCF-7	breast:
13	chr13:30916021..30918034-chr13:30924838..30926822,2	MCF-7	breast:
14	chr13:30923881..30925403-chr13:30927155..30930021,2	K562	blood:
15	chr13:30934832..30937014-chr13:31036018..31038472,2	MCF-7	breast:
16	chr13:30942863..30945077-chr13:30948262..30949863,2	K562	blood:
17	chr13:30926791..30929464-chr13:30933560..30935693,2	K562	blood:
18	chr13:30912562..30914754-chr13:30916773..30919801,3	K562	blood:
19	chr13:30934411..30938096-chr13:30938941..30941537,3	K562	blood:
20	chr13:30926791..30929464-chr13:30933560..30935693,2	K562	blood:
21	chr13:30929197..30931514-chr13:30931945..30933696,2	MCF-7	breast:
22	chr13:30931592..30933734-chr13:30934646..30937027,2	K562	blood:
23	chr13:30916021..30918034-chr13:30924838..30926822,2	MCF-7	breast:
24	chr13:30914354..30916589-chr2:38153582..38155148,2	MCF-7	breast:
25	chr13:30945727..30946611-chr15:65596971..65597506,2	NB4	blood:
26	chr13:30945918..30947620-chr13:30948828..30951193,2	K562	blood:
27	chr13:30916466..30917984-chr13:30920808..30923180,2	K562	blood:
28	chr13:30916446..30918652-chr13:31030492..31033146,2	K562	blood:
29	chr13:30929197..30931514-chr13:30931945..30933696,2	MCF-7	breast:
30	chr13:30912562..30914754-chr13:30916773..30919801,3	K562	blood:
31	chr13:30913388..30915897-chr13:30936298..30938921,2	MCF-7	breast:
32	chr13:30945737..30946446-chr19:10444006..10444638,2	NB4	blood:
33	chr13:30945918..30947620-chr13:30948828..30951193,2	K562	blood:
34	chr13:30755088..30757991-chr13:30912543..30915409,2	K562	blood:
35	chr13:30932861..30934590-chr13:30945866..30948768,2	MCF-7	breast:
36	chr13:30912802..30914356-chr13:30978443..30980881,2	K562	blood:
37	chr13:30940780..30943182-chr13:30944099..30946157,2	MCF-7	breast:
38	chr13:30905394..30908859-chr13:30911466..30914534,3	MCF-7	breast:
39	chr13:30933041..30935142-chr13:31190292..31192399,2	K562	blood:

(count:91 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KATNAL1-3	chr13:30931402-30931529	XLOC_010556
2	lnc-KATNAL1-3	chr13:30938206-30938293	XLOC_010556
3	lnc-KATNAL1-3	chr13:30938206-30940133	XLOC_010556
4	lnc-KATNAL1-3	chr13:30937298-30937363	XLOC_010556
5	lnc-KATNAL1-3	chr13:30915489-30915605	XLOC_010556
6	lnc-KATNAL1-3	chr13:30947920-30948051	XLOC_010556
7	lnc-KATNAL1-3	chr13:30948789-30948819	XLOC_010556
8	lnc-KATNAL1-3	chr13:30946422-30946511	XLOC_010556
9	lnc-KATNAL1-3	chr13:30937298-30937363	XLOC_010556
10	lnc-KATNAL1-3	chr13:30950964-30951078	XLOC_010556
11	lnc-KATNAL1-3	chr13:30941738-30941804	XLOC_010556
12	lnc-KATNAL1-3	chr13:30941738-30941854	ENSG00000238121
13	lnc-KATNAL1-3	chr13:30938206-30938333	XLOC_010556
14	lnc-KATNAL1-3	chr13:30914409-30915605	XLOC_010556
15	lnc-KATNAL1-3	chr13:30950964-30951101	XLOC_010556
16	lnc-KATNAL1-3	chr13:30937298-30937363	XLOC_010556
17	lnc-KATNAL1-3	chr13:30946414-30946511	NONHSAT032796
18	lnc-KATNAL1-3	chr13:30938206-30938342	XLOC_010556
19	lnc-KATNAL1-3	chr13:30949604-30949913	NONHSAT032796
20	lnc-KATNAL1-3	chr13:30949604-30949913	XLOC_010556
21	lnc-KATNAL1-3	chr13:30937298-30937513	XLOC_010556
22	lnc-KATNAL1-3	chr13:30948789-30948798	XLOC_010556
23	lnc-KATNAL1-3	chr13:30941106-30941854	XLOC_010556
24	lnc-KATNAL1-3	chr13:30915489-30915733	XLOC_010556
25	lnc-KATNAL1-3	chr13:30931966-30932026	XLOC_010556
26	lnc-KATNAL1-3	chr13:30932391-30932513	XLOC_010556
27	lnc-KATNAL1-3	chr13:30950964-30951327	NONHSAT032796
28	lnc-KATNAL1-3	chr13:30946422-30946511	XLOC_010556
29	lnc-KATNAL1-3	chr13:30932391-30932513	XLOC_010556
30	lnc-KATNAL1-3	chr13:30938206-30938709	XLOC_010556
31	lnc-KATNAL1-3	chr13:30950964-30951282	XLOC_010556
32	lnc-KATNAL1-3	chr13:30941738-30941854	XLOC_010556
33	lnc-KATNAL1-3	chr13:30946422-30946511	XLOC_010556
34	lnc-KATNAL1-3	chr13:30915567-30915733	XLOC_010556
35	lnc-KATNAL1-3	chr13:30932391-30932513	XLOC_010556
36	lnc-KATNAL1-3	chr13:30919570-30919863	XLOC_010556
37	lnc-KATNAL1-3	chr13:30946422-30946511	ENSG00000238121
38	lnc-KATNAL1-3	chr13:30937298-30937363	XLOC_010556
39	lnc-KATNAL1-3	chr13:30948140-30948230	XLOC_010556
40	lnc-KATNAL1-3	chr13:30937298-30937363	XLOC_010556
41	lnc-KATNAL1-3	chr13:30946422-30946511	XLOC_010556
42	lnc-KATNAL1-3	chr13:30916970-30917023	XLOC_010556
43	lnc-KATNAL1-3	chr13:30946422-30946511	XLOC_010556
44	lnc-KATNAL1-3	chr13:30937298-30937363	ENSG00000238121
45	lnc-KATNAL1-3	chr13:30938206-30938709	XLOC_010556
46	lnc-KATNAL1-3	chr13:30937298-30937363	XLOC_010556
47	lnc-KATNAL1-3	chr13:30946422-30946511	XLOC_010556
48	lnc-KATNAL1-3	chr13:30937298-30937363	XLOC_010556
49	lnc-KATNAL1-3	chr13:30946422-30946511	XLOC_010556
50	lnc-KATNAL1-3	chr13:30950964-30951078	XLOC_010556

No data

Variant related genes	Relation type
LINC00426	TF binding region
LINC00426	CpG island
ENSG00000161847	chromatin interactions
ENSG00000189403	chromatin interactions
ENSG00000132952	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000238121	chromatin interactions
ENSG00000102781	chromatin interactions
ELMO2	miRNA target sites
DET1	miRNA target sites
MDH2	miRNA target sites
TAF5L	miRNA target sites
IGF2BP2	miRNA target sites
KIAA0317	miRNA target sites
CHD7	miRNA target sites
PTPRG	miRNA target sites
WDR62	miRNA target sites
PLS3	miRNA target sites
GIMAP2	miRNA target sites
SGPL1	miRNA target sites
SPI1	miRNA target sites
CYTH1	miRNA target sites

Extended variants
information (count: 1518 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1518 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs756850	chr13:30911531-30911532	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571607330	chr13:30911543-30911544	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs534198507	chr13:30911567-30911568	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149657633	chr13:30911568-30911569	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112998736	chr13:30911572-30911573	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs739501	chr13:30911579-30911580	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs372822187	chr13:30911618-30911619	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs7985247	chr13:30911663-30911664	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556422400	chr13:30911676-30911677	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145466481	chr13:30911677-30911678	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376107591	chr13:30911710-30911711	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148890692	chr13:30911733-30911734	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs117698934	chr13:30911743-30911744	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571999531	chr13:30911754-30911755	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185549745	chr13:30911766-30911767	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560531091	chr13:30911790-30911791	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145609865	chr13:30911796-30911797	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549261172	chr13:30911832-30911833	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562978959	chr13:30911839-30911840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531939918	chr13:30911921-30911922	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562159380	chr13:30911935-30911936	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551633685	chr13:30911969-30911970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571731962	chr13:30911984-30911985	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534005715	chr13:30912026-30912027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376324591	chr13:30912084-30912085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547848290	chr13:30912085-30912086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535402402	chr13:30912218-30912219	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs536597699	chr13:30912257-30912258	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs556489682	chr13:30912276-30912277	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs370093064	chr13:30912316-30912317	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs528942539	chr13:30912317-30912318	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs189206996	chr13:30912361-30912362	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs79785472	chr13:30912364-30912365	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs145678190	chr13:30912367-30912368	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs200524	chr13:30912380-30912381	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs560595493	chr13:30912534-30912535	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs574084003	chr13:30912555-30912556	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs542970826	chr13:30912583-30912584	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563198075	chr13:30912590-30912591	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562140003	chr13:30912602-30912603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531879654	chr13:30912700-30912701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551965049	chr13:30912716-30912717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148105707	chr13:30912720-30912721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527817573	chr13:30912725-30912726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547911386	chr13:30912729-30912730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9508711	chr13:30912750-30912751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs530128606	chr13:30912753-30912754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551244413	chr13:30912804-30912805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566455757	chr13:30912821-30912822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549171433	chr13:30912869-30912870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21147910	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1145 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30892800-30913400	Weak transcription	Psoas Muscle	Psoas
2	chr13:30903600-30914000	Weak transcription	Aorta	Aorta
3	chr13:30903800-30912000	Weak transcription	NHDF-Ad	bronchial
4	chr13:30905800-30913600	Weak transcription	Fetal Stomach	stomach
5	chr13:30905800-30913600	Weak transcription	Right Atrium	heart
6	chr13:30905800-30913600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:30905800-30914000	Weak transcription	Fetal Lung	lung
8	chr13:30905800-30914000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr13:30906600-30912000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:30906600-30913800	Weak transcription	Right Ventricle	heart
11	chr13:30906800-30912000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:30907000-30911800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr13:30907000-30913800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr13:30907200-30912000	Weak transcription	Fetal Heart	heart
15	chr13:30907400-30914000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr13:30908000-30914000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:30909000-30919800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr13:30909200-30911800	Enhancers	Dnd41	blood
19	chr13:30909200-30913600	Weak transcription	Adipose Nuclei	Adipose
20	chr13:30909400-30911600	Enhancers	Fetal Thymus	thymus
21	chr13:30909400-30914000	Weak transcription	Brain Anterior Caudate	brain
22	chr13:30909600-30911600	Enhancers	Thymus	Thymus
23	chr13:30909600-30912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:30909600-30913800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr13:30909600-30914000	Weak transcription	Brain Angular Gyrus	brain
26	chr13:30909800-30913400	Weak transcription	Spleen	Spleen
27	chr13:30909800-30914000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr13:30909800-30914000	Weak transcription	Brain Hippocampus Middle	brain
29	chr13:30909800-30919000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr13:30909800-30919400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr13:30910000-30912400	Weak transcription	Pancreas	Pancrea
32	chr13:30910000-30919000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr13:30910000-30920600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr13:30910600-30911600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr13:30910600-30916400	Enhancers	Hela-S3	cervix
36	chr13:30910800-30911800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr13:30910800-30919200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr13:30911000-30911600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr13:30911000-30911800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr13:30911000-30912000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:30911000-30912000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr13:30911000-30912200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:30911000-30913800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr13:30911000-30914400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr13:30911000-30914800	Enhancers	K562	blood
46	chr13:30911000-30917400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr13:30911000-30919000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr13:30911200-30911600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:30911200-30911600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr13:30911200-30919600	Weak transcription	Primary B cells from cord blood	blood

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