Variant report

Variant	nsv1050969
Chromosome Location	chr13:53665927-54064861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1746)
CpG islands
(count:1344)
Chromatin interactive
region (count:44)
LncRNA
region (count:38)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1746 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:53824458-53824849	K562	blood:	n/a	n/a
2	ARID3A	chr13:53713882-53714163	HepG2	liver:	n/a	n/a
3	ARID3A	chr13:53726147-53726153	HepG2	liver:	n/a	n/a
4	ARID3A	chr13:53824410-53824767	HepG2	liver:	n/a	n/a
5	ARID3A	chr13:53780630-53780885	HepG2	liver:	n/a	n/a
6	ATF2	chr13:53917422-53917944	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr13:53850266-53850825	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr13:53776052-53776376	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr13:53725688-53726204	GM12878	blood:	n/a	n/a
10	ATF2	chr13:53917374-53917879	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr13:53775251-53775601	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr13:53694492-53694553	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr13:53776070-53776411	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr13:53774896-53775639	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr13:53917408-53917886	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr13:53733663-53733756	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr13:53931745-53932054	GM12878	blood:	n/a	n/a
18	BCL11A	chr13:53917483-53917885	H1-hESC	embryonic stem cell:	n/a	n/a
19	BCL11A	chr13:53917539-53917806	H1-hESC	embryonic stem cell:	n/a	n/a
20	BCL11A	chr13:53931787-53932029	GM12878	blood:	n/a	n/a
21	BCL11A	chr13:53725830-53726071	GM12878	blood:	n/a	n/a
22	BCLAF1	chr13:53725836-53726298	GM12878	blood:	n/a	n/a
23	BHLHE40	chr13:53698779-53699029	K562	blood:	n/a	n/a
24	BHLHE40	chr13:53725911-53726239	GM12878	blood:	n/a	n/a
25	BHLHE40	chr13:53698791-53699043	GM12878	blood:	n/a	n/a
26	BHLHE40	chr13:53713926-53714280	HepG2	liver:	n/a	n/a
27	BRCA1	chr13:53726025-53726225	GM12878	blood:	n/a	n/a
28	BRCA1	chr13:53775324-53775536	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr13:53884718-53884805	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr13:54055426-54055452	GM12878	blood:	n/a	n/a
31	BRCA1	chr13:53825799-53825882	H1-hESC	embryonic stem cell:	n/a	n/a
32	CCNT2	chr13:53803850-53804225	K562	blood:	n/a	n/a
33	CEBPB	chr13:53717807-53718296	MCF-7	breast:	n/a	chr13:53718029-53718040 chr13:53718029-53718042 chr13:53718071-53718083 chr13:53718031-53718040 chr13:53718031-53718040 chr13:53718029-53718042 chr13:53718031-53718040 chr13:53718031-53718040
34	CEBPB	chr13:53717822-53718234	K562	blood:	n/a	chr13:53718029-53718040 chr13:53718029-53718042 chr13:53718071-53718083 chr13:53718031-53718040 chr13:53718031-53718040 chr13:53718029-53718042 chr13:53718031-53718040 chr13:53718031-53718040
35	CEBPB	chr13:53732476-53732639	K562	blood:	n/a	chr13:53732526-53732537
36	CEBPB	chr13:53975988-53976258	HepG2	liver:	n/a	chr13:53976120-53976131
37	CEBPB	chr13:53972765-53973012	HepG2	liver:	n/a	chr13:53972885-53972894 chr13:53972885-53972894 chr13:53972883-53972894
38	CEBPB	chr13:53717835-53718290	H1-hESC	embryonic stem cell:	n/a	chr13:53718029-53718040 chr13:53718029-53718042 chr13:53718071-53718083 chr13:53718031-53718040 chr13:53718031-53718040 chr13:53718029-53718042 chr13:53718031-53718040 chr13:53718031-53718040
39	CEBPB	chr13:53862657-53862980	IMR90	lung:	n/a	chr13:53862824-53862835
40	CEBPB	chr13:53795823-53796076	A549	lung:	n/a	chr13:53795965-53795974 chr13:53795964-53795975
41	CEBPB	chr13:53851777-53852036	HepG2	liver:	n/a	chr13:53851894-53851905 chr13:53851896-53851907
42	CEBPB	chr13:53795793-53796147	IMR90	lung:	n/a	chr13:53795965-53795974 chr13:53795964-53795975
43	CEBPB	chr13:54002478-54002752	IMR90	lung:	n/a	n/a
44	CEBPB	chr13:53917275-53917810	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr13:53864064-53864255	HepG2	liver:	n/a	chr13:53864185-53864196 chr13:53864186-53864197 chr13:53864185-53864198
46	CEBPB	chr13:53795852-53796117	K562	blood:	n/a	chr13:53795965-53795974 chr13:53795964-53795975
47	CEBPB	chr13:53711950-53712346	Hela-S3	cervix:	n/a	chr13:53712167-53712178
48	CEBPB	chr13:53862676-53862974	H1-hESC	embryonic stem cell:	n/a	chr13:53862824-53862835
49	CEBPB	chr13:53732371-53732710	IMR90	lung:	n/a	chr13:53732526-53732537
50	CEBPB	chr13:53850310-53850840	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:53850898-53850948	HUVEC	blood vessel:	n/a
2	chr13:53774359-53774409	AG09319	gingival:	n/a
3	chr13:53850898-53850948	HUVEC	blood vessel:	n/a
4	chr13:53774359-53774409	AG09319	gingival:	n/a
5	chr13:53775035-53775085	PrEC	prostate:	n/a
6	chr13:53813839-53813889	BE2_C	brain:	n/a
7	chr13:53775035-53775085	GM06990	blood:	n/a
8	chr13:53776259-53776309	SKMC	muscle:	n/a
9	chr13:53740191-53740241	HMEC	breast:	n/a
10	chr13:53774217-53774267	AG04449	skin:	fetal
11	chr13:53813839-53813889	HPAEpiC	pulmonary alveolar:	n/a
12	chr13:53774359-53774409	AG04449	skin:	fetal
13	chr13:54025845-54025895	HPAEpiC	pulmonary alveolar:	n/a
14	chr13:53972317-53972367	PANC-1	pancreas:	n/a
15	chr13:53712850-53712900	NH-A	brain:	n/a
16	chr13:53850898-53850948	HCPEpiC	choroid plexus:	n/a
17	chr13:54025845-54025895	AoSMC	blood vessel:	n/a
18	chr13:53774217-53774267	GM12878	blood:	n/a
19	chr13:53715873-53715923	AG09309	skin:	n/a
20	chr13:53774217-53774267	Caco-2	colon:	n/a
21	chr13:54025845-54025895	GM12891	blood:	n/a
22	chr13:53869898-53869948	GM19239	blood:	n/a
23	chr13:53776259-53776309	HMEC	breast:	n/a
24	chr13:53715873-53715923	AG04449	skin:	fetal
25	chr13:53916476-53916526	PANC-1	pancreas:	n/a
26	chr13:53885252-53885302	HRCEpiC	kidney:	n/a
27	chr13:53869898-53869948	HRE	kidney:	n/a
28	chr13:53775636-53775686	Jurkat	blood:	n/a
29	chr13:53916476-53916526	PrEC	prostate:	n/a
30	chr13:53813839-53813889	HEK293	kidney:	embryo
31	chr13:53775035-53775085	HEEpiC	esophagus:	n/a
32	chr13:53715873-53715923	Jurkat	blood:	n/a
33	chr13:53850898-53850948	PFSK-1	brain:	n/a
34	chr13:53775958-53776008	Hela-S3	cervix:	n/a
35	chr13:53774217-53774267	HEK293	kidney:	embryo
36	chr13:53712850-53712900	AG04449	skin:	fetal
37	chr13:53774359-53774409	GM12891	blood:	n/a
38	chr13:53850898-53850948	HEEpiC	esophagus:	n/a
39	chr13:53916476-53916526	HIPEpiC	eye:	n/a
40	chr13:53715873-53715923	HNPCEpiC	eye:	n/a
41	chr13:53775108-53775158	AG04450	lung:	fetal
42	chr13:53775410-53775460	PFSK-1	brain:	n/a
43	chr13:53775108-53775158	HRPEpiC	eye:	n/a
44	chr13:53776396-53776446	AG04449	skin:	fetal
45	chr13:53813839-53813889	SK-N-SH	brain:	n/a
46	chr13:53775636-53775686	RPTEC	kidney:	n/a
47	chr13:53775958-53776008	LNCaP	prostate:	n/a
48	chr13:53740191-53740241	IMR90	lung:	fetal
49	chr13:53776396-53776446	GM12891	blood:	n/a
50	chr13:54025845-54025895	PANC-1	pancreas:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:53824183..53825128-chr13:54355772..54356571,3	MCF-7	breast:
2	chr13:53996660..53998932-chr13:54254094..54256636,2	MCF-7	breast:
3	chr13:53780331..53781277-chr13:53806298..53806833,3	MCF-7	breast:
4	chr13:53936590..53939096-chr13:53949782..53952497,2	K562	blood:
5	chr13:53762930..53764777-chr13:53766353..53768013,2	K562	blood:
6	chr13:53766887..53769388-chr13:53770442..53772910,2	MCF-7	breast:
7	chr13:53766887..53769388-chr13:53770442..53772910,2	MCF-7	breast:
8	chr13:53824036..53825003-chr13:55819208..55820068,4	MCF-7	breast:
9	chr13:53915723..53916223-chr17:57970367..57971069,2	MCF-7	breast:
10	chr13:53436613..53437297-chr13:53775140..53775836,2	MCF-7	breast:
11	chr13:53762930..53764777-chr13:53766353..53768013,2	K562	blood:
12	chr13:53917930..53919463-chr13:53919847..53922635,2	K562	blood:
13	chr13:53824138..53824998-chr13:54353117..54353653,2	MCF-7	breast:
14	chr13:53824070..53825129-chr13:54355995..54357044,7	MCF-7	breast:
15	chr13:53934898..53936614-chr13:53941465..53943222,2	MCF-7	breast:
16	chr13:53685373..53687823-chr13:53688675..53690825,2	K562	blood:
17	chr13:54008425..54009123-chr6:96258970..96259861,2	MCF-7	breast:
18	chr13:53710457..53712289-chr13:53722714..53724707,2	K562	blood:
19	chr13:53578448..53579351-chr13:53763194..53763965,2	MCF-7	breast:
20	chr13:53225145..53227561-chr13:53790469..53792639,3	MCF-7	breast:
21	chr13:53542220..53542850-chr13:53763028..53763897,2	MCF-7	breast:
22	chr13:53726507..53727505-chr13:53774966..53775870,2	MCF-7	breast:
23	chr13:53824325..53824988-chr13:58132042..58132595,2	MCF-7	breast:
24	chr13:53780514..53781229-chr13:53805968..53806821,3	MCF-7	breast:
25	chr13:53710457..53712289-chr13:53722714..53724707,2	K562	blood:
26	chr13:53541952..53542484-chr13:53774972..53775830,2	MCF-7	breast:
27	chr13:53768534..53770732-chr13:53773840..53775697,2	K562	blood:
28	chr13:53685373..53687823-chr13:53688675..53690825,2	K562	blood:
29	chr12:58153957..58154503-chr13:53901447..53902222,2	MCF-7	breast:
30	chr13:53917930..53919463-chr13:53919847..53922635,2	K562	blood:
31	chr13:53726507..53727505-chr13:53774966..53775870,2	MCF-7	breast:
32	chr13:53744743..53746606-chr13:53747256..53749261,2	K562	blood:
33	chr13:53998890..54001662-chr13:54006609..54008183,2	MCF-7	breast:
34	chr13:53541918..53542704-chr13:53775013..53775632,3	MCF-7	breast:
35	chr13:53593128..53594726-chr13:53763262..53764959,2	MCF-7	breast:
36	chr13:53744743..53746606-chr13:53747256..53749261,2	K562	blood:
37	chr13:53936590..53939096-chr13:53949782..53952497,2	K562	blood:
38	chr13:53824154..53825004-chr13:54349752..54350528,4	MCF-7	breast:
39	chr1:155817444..155818042-chr13:53712458..53713136,2	MCF-7	breast:
40	chr13:53998890..54001662-chr13:54006609..54008183,2	MCF-7	breast:
41	chr13:53824156..53824674-chr13:54349734..54350480,3	MCF-7	breast:
42	chr13:53239228..53240126-chr13:53775321..53776150,2	MCF-7	breast:
43	chr13:53780331..53781277-chr13:53806298..53806833,3	MCF-7	breast:
44	chr13:53780514..53781229-chr13:53805968..53806821,3	MCF-7	breast:

(count:38 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH8-4	chr13:53722392-53722499	NONHSAT034014
2	lnc-PCDH8-4	chr13:53721002-53721037	NONHSAT034014
3	lnc-PCDH8-4	chr13:53723492-53723639	NONHSAT034013
4	lnc-OLFM4-8	chr13:53901537-53901605	NONHSAT034017
5	lnc-PCDH8-2	chr13:53704433-53704475	NONHSAT034007
6	lnc-PCDH8-2	chr13:53704433-53704701	XLOC_010624
7	lnc-PCDH8-2	chr13:53673539-53673826	NONHSAT034008
8	lnc-PCDH8-2	chr13:53673539-53673826	NONHSAT034007
9	lnc-PCDH8-4	chr13:53711345-53711480	NONHSAT034013
10	lnc-PCDH8-3	chr13:53711345-53711469	XLOC_010625
11	lnc-PCDH8-2	chr13:53687710-53687863	NONHSAT034008
12	lnc-PCDH8-4	chr13:53725839-53726006	NONHSAT034014
13	lnc-OLFM4-9	chr13:53919346-53920093	NONHSAT034018
14	lnc-OLFM4-8	chr13:53900089-53900167	NONHSAT034017
15	lnc-OLFM4-9	chr13:53984135-53985015	NONHSAT034018
16	lnc-PCDH8-4	chr13:53720674-53721037	XLOC_010626
17	lnc-PCDH8-4	chr13:53725839-53726006	NONHSAT034013
18	lnc-PCDH8-2	chr13:53676441-53676607	NONHSAT034008
19	lnc-PCDH8-2	chr13:53684996-53685106	XLOC_010624
20	lnc-PCDH8-2	chr13:53676441-53676607	NONHSAT034007
21	lnc-OLFM4-9	chr13:53964561-53964788	NONHSAT034018
22	lnc-PCDH8-4	chr13:53721002-53721037	NONHSAT034013
23	lnc-PCDH8-4	chr13:53705553-53705956	NONHSAT034013
24	lnc-PCDH8-2	chr13:53684996-53685075	XLOC_010624
25	lnc-PCDH8-3	chr13:53705021-53705956	XLOC_010625
26	lnc-PCDH8-4	chr13:53711344-53711469	NONHSAT034011
27	lnc-OLFM4-8	chr13:53891266-53891339	NONHSAT034017
28	lnc-PCDH8-2	chr13:53673550-53673826	XLOC_010624
29	lnc-PCDH8-4	chr13:53720551-53720656	NONHSAT034014
30	lnc-OLFM4-7	chr13:53832212-53832505	NONHSAT034016
31	lnc-PCDH8-4	chr13:53725839-53725943	XLOC_010626
32	lnc-PCDH8-2	chr13:53676441-53676607	XLOC_010624
33	lnc-PCDH8-4	chr13:53722392-53722499	NONHSAT034013
34	lnc-PCDH8-4	chr13:53722392-53722499	XLOC_010626
35	lnc-PCDH8-2	chr13:53684996-53685075	NONHSAT034008
36	lnc-PCDH8-2	chr13:53676441-53676607	XLOC_010624
37	lnc-PCDH8-4	chr13:53705020-53705956	NONHSAT034011
38	lnc-PCDH8-2	chr13:53673540-53673826	XLOC_010624

No data

Variant related genes	Relation type
LINC01065	TF binding region
RN7SL618P	TF binding region
ENSG00000220990	TF binding region
PCDH8P1	TF binding region
LINC01065	CpG island
RN7SL618P	CpG island
ENSG00000220990	CpG island
PCDH8P1	CpG island
ENSG00000225510	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000165416	chromatin interactions
ENSG00000220990	chromatin interactions
MLL3	miRNA target sites
PAPD5	miRNA target sites
CBX3	miRNA target sites

Extended variants
information (count: 8297 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:8297 , 50 per page) page: 1 2 3 4 5 6 7 ... 166

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192451672	chr13:53666008-53666009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560843962	chr13:53666014-53666015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541999396	chr13:53666016-53666017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375290209	chr13:53666019-53666020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115053898	chr13:53666080-53666081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142174871	chr13:53666084-53666085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532901263	chr13:53666114-53666115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552905764	chr13:53666115-53666116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2806980	chr13:53666182-53666183	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2799345	chr13:53666189-53666190	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548635443	chr13:53666197-53666198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556365739	chr13:53666224-53666225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151204813	chr13:53666242-53666243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139136432	chr13:53666250-53666251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372378730	chr13:53666253-53666254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374146106	chr13:53666259-53666260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549612325	chr13:53666309-53666310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114661413	chr13:53666335-53666336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115643238	chr13:53666361-53666362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558595148	chr13:53666461-53666462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563677450	chr13:53666506-53666507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565644472	chr13:53666528-53666529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183644407	chr13:53666542-53666543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373140691	chr13:53666543-53666544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144345535	chr13:53666595-53666596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544026332	chr13:53666649-53666650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146564943	chr13:53666675-53666676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574788716	chr13:53666717-53666718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187969626	chr13:53666753-53666754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532434668	chr13:53666756-53666757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559816403	chr13:53666808-53666809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75323019	chr13:53666818-53666819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552243377	chr13:53666826-53666827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565882656	chr13:53666870-53666871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535707948	chr13:53666916-53666917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181484203	chr13:53666943-53666944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141220554	chr13:53666990-53666991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572052314	chr13:53666999-53667000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144958223	chr13:53667010-53667011	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548331579	chr13:53667037-53667038	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs569480893	chr13:53667067-53667068	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs532199473	chr13:53667166-53667167	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs184612419	chr13:53667197-53667198	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs145873828	chr13:53667207-53667208	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs189785451	chr13:53667228-53667229	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs181851649	chr13:53667229-53667230	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs568064230	chr13:53667273-53667274	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs567037242	chr13:53667288-53667289	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs568574843	chr13:53667303-53667304	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs577485159	chr13:53667422-53667423	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
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
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:971 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53658600-53666000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr13:53664200-53666000	Enhancers	Brain Germinal Matrix	brain
3	chr13:53664600-53667000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr13:53665000-53666800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:53665000-53667000	Weak transcription	Brain Angular Gyrus	brain
6	chr13:53665200-53667000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:53665200-53667000	Weak transcription	Brain Hippocampus Middle	brain
8	chr13:53665600-53667000	Weak transcription	Pancreas	Pancrea
9	chr13:53665800-53667200	Enhancers	Brain Substantia Nigra	brain
10	chr13:53666800-53667600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:53667000-53667200	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr13:53667000-53667200	Active TSS	Brain Hippocampus Middle	brain
13	chr13:53667000-53667400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:53667000-53667400	Active TSS	Brain Angular Gyrus	brain
15	chr13:53667200-53667400	Active TSS	Brain Cingulate Gyrus	brain
16	chr13:53667200-53667400	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr13:53672600-53673200	Enhancers	Stomach Mucosa	stomach
18	chr13:53672600-53674000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr13:53672600-53674000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:53672600-53674000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr13:53672600-53675600	Enhancers	Fetal Heart	heart
22	chr13:53672800-53673200	Enhancers	Duodenum Mucosa	Duodenum
23	chr13:53673200-53673400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr13:53673200-53674200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr13:53673200-53675400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:53673400-53673800	Enhancers	Duodenum Mucosa	Duodenum
27	chr13:53673400-53673800	Enhancers	Gastric	stomach
28	chr13:53673400-53674000	Enhancers	Primary hematopoietic stem cells	blood
29	chr13:53673800-53674600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr13:53674000-53674400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr13:53674400-53675800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr13:53674600-53675200	Enhancers	Duodenum Mucosa	Duodenum
33	chr13:53674600-53675400	Enhancers	Pancreas	Pancrea
34	chr13:53674600-53675400	Enhancers	Small Intestine	intestine
35	chr13:53675400-53679400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr13:53675400-53680000	Weak transcription	Pancreas	Pancrea
37	chr13:53675800-53677800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr13:53677800-53679400	Enhancers	Fetal Stomach	stomach
39	chr13:53677800-53679800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr13:53679400-53680800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr13:53680000-53680800	Enhancers	Pancreas	Pancrea
42	chr13:53680800-53683600	Weak transcription	Pancreas	Pancrea
43	chr13:53680800-53684400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr13:53681800-53695000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr13:53683600-53683800	Enhancers	Pancreas	Pancrea
46	chr13:53683800-53684200	Weak transcription	Pancreas	Pancrea
47	chr13:53684200-53684800	Enhancers	Pancreas	Pancrea
48	chr13:53684400-53685400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:53684400-53685600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr13:53684800-53685400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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