Variant report

Variant	nsv1035223
Chromosome Location	chr12:123795559-123991706
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5796)
CpG islands
(count:4708)
Chromatin interactive
region (count:343)
LncRNA
region (count:17)
Mature miRNA
region (count: 1)
miRNA target
sites (count:9)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123930562-123930871	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:123928815-123929330	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:123869109-123869429	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:123838109-123838129	K562	blood:	n/a	n/a
5	ARID3A	chr12:123933737-123934269	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:123933034-123933511	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:123848203-123848394	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:123942478-123942944	HepG2	liver:	n/a	n/a
9	ARID3A	chr12:123849586-123850564	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:123872141-123873037	K562	blood:	n/a	n/a
11	ARID3A	chr12:123859161-123859380	K562	blood:	n/a	n/a
12	ARID3A	chr12:123942421-123942897	K562	blood:	n/a	n/a
13	ARID3A	chr12:123868068-123868703	HepG2	liver:	n/a	n/a
14	ARID3A	chr12:123868155-123868705	K562	blood:	n/a	n/a
15	ARID3A	chr12:123849240-123849379	HepG2	liver:	n/a	n/a
16	ARID3A	chr12:123857403-123857446	K562	blood:	n/a	n/a
17	ARID3A	chr12:123850091-123850557	K562	blood:	n/a	n/a
18	ATF1	chr12:123870215-123870528	K562	blood:	n/a	n/a
19	ATF1	chr12:123858660-123858743	K562	blood:	n/a	n/a
20	ATF1	chr12:123872000-123873150	K562	blood:	n/a	n/a
21	ATF1	chr12:123859107-123859494	K562	blood:	n/a	n/a
22	ATF1	chr12:123939137-123939179	K562	blood:	n/a	n/a
23	ATF1	chr12:123868169-123868701	K562	blood:	n/a	n/a
24	ATF2	chr12:123942369-123942910	GM12878	blood:	n/a	n/a
25	ATF2	chr12:123920737-123921522	GM12878	blood:	n/a	n/a
26	ATF2	chr12:123912339-123912781	GM12878	blood:	n/a	n/a
27	ATF2	chr12:123849458-123850671	GM12878	blood:	n/a	n/a
28	ATF2	chr12:123911422-123912793	GM12878	blood:	n/a	n/a
29	ATF2	chr12:123849617-123850501	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr12:123926019-123926706	GM12878	blood:	n/a	n/a
31	ATF2	chr12:123868036-123868738	GM12878	blood:	n/a	n/a
32	ATF2	chr12:123911497-123912306	GM12878	blood:	n/a	n/a
33	ATF2	chr12:123886430-123886993	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF2	chr12:123849410-123850683	GM12878	blood:	n/a	n/a
35	ATF2	chr12:123942400-123943194	GM12878	blood:	n/a	n/a
36	ATF2	chr12:123915598-123916170	GM12878	blood:	n/a	n/a
37	ATF2	chr12:123916971-123917518	GM12878	blood:	n/a	n/a
38	ATF2	chr12:123927203-123927661	GM12878	blood:	n/a	n/a
39	ATF2	chr12:123872859-123873307	GM12878	blood:	n/a	n/a
40	ATF3	chr12:123849382-123849568	GM12878	blood:	n/a	chr12:123849384-123849398
41	ATF3	chr12:123849287-123849552	HepG2	liver:	n/a	chr12:123849384-123849398
42	ATF3	chr12:123849629-123849966	K562	blood:	n/a	chr12:123849752-123849761 chr12:123849702-123849710
43	ATF3	chr12:123942419-123943252	A549	lung:	n/a	n/a
44	ATF3	chr12:123869504-123869922	K562	blood:	n/a	chr12:123869745-123869755
45	ATF3	chr12:123942504-123942902	K562	blood:	n/a	n/a
46	ATF3	chr12:123849656-123850574	A549	lung:	n/a	chr12:123849752-123849761 chr12:123849702-123849710
47	ATF3	chr12:123942464-123943235	A549	lung:	n/a	n/a
48	ATF3	chr12:123849241-123849613	H1-hESC	embryonic stem cell:	n/a	chr12:123849384-123849398
49	ATF3	chr12:123859053-123859454	K562	blood:	n/a	n/a
50	ATF3	chr12:123849362-123850013	H1-hESC	embryonic stem cell:	n/a	chr12:123849752-123849761 chr12:123849702-123849710 chr12:123849384-123849398

(count:4708 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123940225-123940275	H1-hESC	embryonic stem cell:	embryo
2	chr12:123921146-123921196	GM06990	blood:	n/a
3	chr12:123950174-123950224	HUVEC	blood vessel:	n/a
4	chr12:123804559-123804609	HNPCEpiC	eye:	n/a
5	chr12:123848917-123848967	CMK	blood:	n/a
6	chr12:123856688-123856738	SK-N-MC	brain:	n/a
7	chr12:123942602-123942652	SK-N-SH	brain:	n/a
8	chr12:123867383-123867433	HRPEpiC	eye:	n/a
9	chr12:123856688-123856738	HMEC	breast:	n/a
10	chr12:123921306-123921356	SK-N-MC	brain:	n/a
11	chr12:123868268-123868318	NT2-D1	testis:	n/a
12	chr12:123940225-123940275	H1-hESC	embryonic stem cell:	embryo
13	chr12:123921146-123921196	GM06990	blood:	n/a
14	chr12:123950174-123950224	HUVEC	blood vessel:	n/a
15	chr12:123804559-123804609	HNPCEpiC	eye:	n/a
16	chr12:123848917-123848967	CMK	blood:	n/a
17	chr12:123856688-123856738	SK-N-MC	brain:	n/a
18	chr12:123942602-123942652	SK-N-SH	brain:	n/a
19	chr12:123867383-123867433	HRPEpiC	eye:	n/a
20	chr12:123856688-123856738	HMEC	breast:	n/a
21	chr12:123921306-123921356	SK-N-MC	brain:	n/a
22	chr12:123868268-123868318	NT2-D1	testis:	n/a
23	chr12:123869334-123869384	SAEC	small airway:	n/a
24	chr12:123920983-123921033	SAEC	small airway:	n/a
25	chr12:123868427-123868477	Hela-S3	cervix:	n/a
26	chr12:123921434-123921484	HepG2	liver:	n/a
27	chr12:123950174-123950224	Hepatocyte	liver:	n/a
28	chr12:123868268-123868318	NB4	blood:	n/a
29	chr12:123921461-123921511	K562	blood:	n/a
30	chr12:123942694-123942744	GM12878	blood:	n/a
31	chr12:123950415-123950465	AG04450	lung:	fetal
32	chr12:123874466-123874516	AG04449	skin:	fetal
33	chr12:123868665-123868715	HUVEC	blood vessel:	n/a
34	chr12:123950415-123950465	HIPEpiC	eye:	n/a
35	chr12:123848917-123848967	H1-hESC	embryonic stem cell:	embryo
36	chr12:123868647-123868697	NHBE	bronchial:	n/a
37	chr12:123921544-123921594	K562	blood:	n/a
38	chr12:123921461-123921511	HRE	kidney:	n/a
39	chr12:123957029-123957079	HIPEpiC	eye:	n/a
40	chr12:123856886-123856936	NHBE	bronchial:	n/a
41	chr12:123847070-123847120	HepG2	liver:	n/a
42	chr12:123869060-123869110	GM12891	blood:	n/a
43	chr12:123918498-123918548	HUVEC	blood vessel:	n/a
44	chr12:123950415-123950465	Hepatocyte	liver:	n/a
45	chr12:123920983-123921033	GM12891	blood:	n/a
46	chr12:123892724-123892774	HCT-116	colon:	n/a
47	chr12:123945990-123946040	CMK	blood:	n/a
48	chr12:123874466-123874516	PANC-1	pancreas:	n/a
49	chr12:123850127-123850177	AG09319	gingival:	n/a
50	chr12:123957410-123957460	LNCaP	prostate:	n/a

(count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr12:123847301..123849584-chr12:124117443..124120110,3	K562	blood:
2	chr12:123907694..123909490-chr12:123912059..123914448,2	K562	blood:
3	chr12:123871392..123873266-chr12:123879118..123880787,2	K562	blood:
4	chr12:123959532..123961123-chr12:123963340..123966059,2	MCF-7	breast:
5	chr12:123754032..123756441-chr12:123848296..123851530,6	K562	blood:
6	chr12:123845329..123854937-chr12:123865496..123876607,58	K562	blood:
7	chr12:123991512..123994441-chr12:124007477..124009377,2	MCF-7	breast:
8	chr12:123933162..123935586-chr12:123941113..123943994,3	MCF-7	breast:
9	chr12:123873545..123876441-chr12:123898825..123901741,2	K562	blood:
10	chr12:123831348..123835650-chr12:123835789..123840785,5	K562	blood:
11	chr12:123866820..123869347-chr12:123921473..123923261,2	K562	blood:
12	chr12:123874611..123876401-chr12:123967217..123969868,2	K562	blood:
13	chr12:123886695..123888203-chr12:123890596..123893402,2	K562	blood:
14	chr12:123866820..123869752-chr12:123919792..123923261,3	K562	blood:
15	chr12:123807958..123809833-chr12:123813523..123815541,2	K562	blood:
16	chr12:123874464..123876265-chr12:123959816..123961777,2	MCF-7	breast:
17	chr12:123779615..123782241-chr12:123799621..123801825,2	K562	blood:
18	chr12:123988703..123991026-chr12:123998047..123999844,2	MCF-7	breast:
19	chr12:123798241..123802098-chr12:123803034..123805824,3	K562	blood:
20	chr12:123945278..123947489-chr12:123951548..123953733,2	K562	blood:
21	chr12:123947470..123950375-chr12:124015636..124018854,3	K562	blood:
22	chr12:123839967..123842142-chr12:123869502..123871967,2	MCF-7	breast:
23	chr12:123854860..123857410-chr12:123868464..123870095,2	K562	blood:
24	chr12:123868463..123871220-chr12:123917051..123918804,2	K562	blood:
25	chr12:123879282..123881067-chr12:123885695..123887495,2	MCF-7	breast:
26	chr12:123941560..123944210-chr12:123946389..123948077,2	K562	blood:
27	chr12:123873357..123876856-chr12:123879238..123882589,5	K562	blood:
28	chr12:123844945..123846829-chr12:123847352..123848905,2	MCF-7	breast:
29	chr12:123792059..123795605-chr12:123796583..123800633,3	MCF-7	breast:
30	chr12:123847741..123850160-chr12:123863172..123865699,2	MCF-7	breast:
31	chr12:123847713..123850022-chr12:124067528..124071055,3	MCF-7	breast:
32	chr12:123940979..123946241-chr12:123948686..123953480,7	MCF-7	breast:
33	chr12:123981817..123985054-chr12:123986830..123990425,4	K562	blood:
34	chr12:123844989..123847500-chr12:124065839..124068689,2	K562	blood:
35	chr12:123849675..123850516-chr2:122288105..122288668,2	NB4	blood:
36	chr12:123941485..123944968-chr12:123948238..123952652,6	K562	blood:
37	chr12:123962852..123965430-chr12:123971196..123972717,2	K562	blood:
38	chr12:123755389..123758333-chr12:123866833..123870129,4	K562	blood:
39	chr11:45825943..45826929-chr12:123873071..123873715,2	Hela-S3	cervix:
40	chr12:123838485..123840889-chr12:123846160..123848941,2	MCF-7	breast:
41	chr12:123855413..123857446-chr12:123866791..123868451,2	K562	blood:
42	chr12:123945278..123947489-chr12:123951548..123953733,2	K562	blood:
43	chr12:123919731..123922838-chr12:123939726..123943639,4	MCF-7	breast:
44	chr12:123832815..123836496-chr12:123847723..123851604,4	MCF-7	breast:
45	chr12:123848585..123850676-chr17:56707936..56709681,2	MCF-7	breast:
46	chr12:123891872..123893382-chr12:123894921..123897058,2	MCF-7	breast:
47	chr12:123884955..123886643-chr12:123903886..123905556,2	MCF-7	breast:
48	chr12:123872784..123874602-chr17:59484787..59486930,2	MCF-7	breast:
49	chr12:123876498..123879364-chr12:123956037..123958507,2	MCF-7	breast:
50	chr12:123948778..123953416-chr12:123953598..123956451,4	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNRNP35-1	chr12:123948976-123949446	NONHSAT031593
2	lnc-SNRNP35-4	chr12:123868720-123868755	NONHSAT031588
3	lnc-RILPL2-1	chr12:123926064-123926399	NONHSAT031590
4	lnc-SETD8-1	chr12:123849498-123849664	NONHSAT031583
5	lnc-SETD8-1	chr12:123848356-123848554	NONHSAT031583
6	lnc-SETD8-1	chr12:123848415-123848554	NONHSAT031585
7	lnc-SNRNP35-1	chr12:123942674-123942763	NONHSAT031593
8	lnc-SNRNP35-1	chr12:123955639-123956909	NR_104103
9	lnc-SETD8-1	chr12:123848415-123850334	ENSG00000256092.2
10	lnc-SNRNP35-1	chr12:123942651-123942763	NR_104103
11	lnc-SETD8-1	chr12:123850072-123850660	ENSG00000256092
12	lnc-SNRNP35-4	chr12:123872989-123873304	NONHSAT031588
13	lnc-SETD8-1	chr12:123850072-123850216	NONHSAT031586
14	lnc-SETD8-1	chr12:123850072-123850334	NONHSAT031583
15	lnc-SETD8-1	chr12:123849500-123849662	ENSG00000256092
16	lnc-SETD8-1	chr12:123849185-123849694	NONHSAT031586
17	lnc-SETD8-1	chr12:123849537-123850305	NONHSAT031585

miRNA name	Chromosome Location	mirBase accession
hsa-miR-8072	chr12:123849361-123849380	MIMAT0030999

(count:9 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SETD8	hsa-miR-127-3p	chr12:123893756-123893763
2	SETD8	hsa-miR-127-3p	chr12:123893741-123893763
3	SETD8	hsa-miR-7-5p	chr12:123893689-123893711
4	SETD8	hsa-miR-186-5p	chr12:123892964-123892988
5	SETD8	hsa-miR-186-5p	chr12:123892981-123892988
6	SETD8	hsa-miR-7-5p	chr12:123892504-123892526
7	SETD8	hsa-miR-7-5p	chr12:123892771-123892794
8	SETD8	hsa-miR-7-5p	chr12:123893704-123893710
9	SETD8	hsa-miR-7-5p	chr12:123892787-123892793

Variant related genes	Relation type
ENSG00000207189	TF binding region
SETD8	TF binding region
RILPL2	TF binding region
RILPL1	TF binding region
SNRNP35	TF binding region
ENSG00000270445	TF binding region
SBNO1	TF binding region
ENSG00000256092	TF binding region
ENSG00000207189	CpG island
SETD8	CpG island
RILPL2	CpG island
RILPL1	CpG island
SNRNP35	CpG island
ENSG00000270445	CpG island
SBNO1	CpG island
ENSG00000256092	CpG island
ENSG00000178057	chromatin interactions
ENSG00000068097	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000267416	chromatin interactions
ENSG00000256028	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000247373	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000162714	chromatin interactions
ENSG00000245904	chromatin interactions
ENSG00000183955	chromatin interactions
ENSG00000266655	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000207189	chromatin interactions
ENSG00000184209	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000270445	chromatin interactions
ENSG00000232531	chromatin interactions
ENSG00000188026	chromatin interactions
ENSG00000259673	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000162231	chromatin interactions
ENSG00000269821	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000074054	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000185344	chromatin interactions
ENSG00000181830	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000235423	chromatin interactions
ENSG00000206897	chromatin interactions
ENSG00000150977	chromatin interactions
ENSG00000264229	chromatin interactions
ENSG00000133639	chromatin interactions
ENSG00000189227	chromatin interactions
ENSG00000139697	chromatin interactions
ENSG00000273338	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000269980	chromatin interactions
KIF16B	miRNA target sites
DVL2	miRNA target sites

Extended variants
information (count: 8121 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:8121 , 50 per page) page: 1 2 3 4 5 6 7 ... 163

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375721664	chr12:123795574-123795575	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76466196	chr12:123795580-123795581	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188416388	chr12:123795593-123795594	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114460951	chr12:123795606-123795607	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376909028	chr12:123795625-123795626	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546657066	chr12:123795629-123795630	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571748081	chr12:123795630-123795631	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538748277	chr12:123795670-123795671	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145172324	chr12:123795689-123795690	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371321481	chr12:123795708-123795709	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565119754	chr12:123795710-123795711	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374257012	chr12:123795713-123795714	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576257664	chr12:123795755-123795756	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80336138	chr12:123795759-123795760	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555665344	chr12:123795786-123795787	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190709572	chr12:123795789-123795790	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183448363	chr12:123795819-123795820	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559068549	chr12:123795822-123795823	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7957082	chr12:123795826-123795827	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74906341	chr12:123795922-123795923	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186625847	chr12:123795944-123795945	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191414606	chr12:123795953-123795954	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549289761	chr12:123795975-123795976	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191392376	chr12:123796031-123796032	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561655420	chr12:123796074-123796075	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79885827	chr12:123796091-123796092	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573731050	chr12:123796099-123796100	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547013615	chr12:123796108-123796109	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571548291	chr12:123796136-123796137	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557150787	chr12:123796137-123796138	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370389044	chr12:123796149-123796150	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542997838	chr12:123796179-123796180	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184654418	chr12:123796191-123796192	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569880855	chr12:123796193-123796194	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568237707	chr12:123796195-123796196	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537213686	chr12:123796202-123796203	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11057256	chr12:123796236-123796237	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs200566566	chr12:123796237-123796238	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4759375	chr12:123796238-123796239	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
40	rs11057257	chr12:123796240-123796241	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs534601910	chr12:123796242-123796243	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548286566	chr12:123796260-123796261	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11832382	chr12:123796267-123796268	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377025986	chr12:123796268-123796269	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55840692	chr12:123796270-123796271	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10846512	chr12:123796271-123796272	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200378176	chr12:123796273-123796274	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61953422	chr12:123796275-123796276	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201534148	chr12:123796277-123796278	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61953423	chr12:123796279-123796280	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:7632 , 50 per page) page: 1 2 3 4 5 6 7 ... 153

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123771600-123799800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:123772400-123799800	Strong transcription	Fetal Stomach	stomach
3	chr12:123772400-123847800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:123772800-123821000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:123773000-123835200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:123773200-123830600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:123773200-123834200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:123773200-123835000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:123773200-123835000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:123773200-123838000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:123773400-123797800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:123773400-123811600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:123773400-123812400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:123773400-123826200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:123773400-123826200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:123773400-123826600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:123773400-123835000	Strong transcription	Fetal Thymus	thymus
18	chr12:123773400-123835400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:123773400-123837200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:123773600-123816000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:123773600-123830800	Strong transcription	Placenta	Placenta
22	chr12:123773600-123835200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:123773600-123835400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:123773800-123798200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:123773800-123798400	Strong transcription	Stomach Smooth Muscle	stomach
26	chr12:123773800-123826200	Strong transcription	Adipose Nuclei	Adipose
27	chr12:123773800-123826200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:123773800-123834800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr12:123773800-123837200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:123773800-123837400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:123774000-123798600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:123774000-123802800	Strong transcription	Osteobl	bone
33	chr12:123774000-123820600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:123774000-123821600	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:123774000-123835000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr12:123774000-123835200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:123774000-123835400	Strong transcription	Dnd41	blood
38	chr12:123774400-123821200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr12:123774600-123822200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:123775000-123797200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:123775400-123798600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:123775600-123812200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:123775600-123835400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:123775800-123821000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:123776000-123797600	Strong transcription	Rectal Smooth Muscle	rectum
46	chr12:123776200-123804000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr12:123776200-123826000	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr12:123776200-123830600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr12:123776400-123835000	Strong transcription	Thymus	Thymus
50	chr12:123776600-123834400	Strong transcription	Primary T helper cells PMA-I stimulated	--

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