Variant report

Variant	nsv438196
Chromosome Location	chr12:22195202-22234058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:730)
CpG islands
(count:794)
Chromatin interactive
region (count:36)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:730 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:22219457-22219592	K562	blood:	n/a	n/a
2	ARID3A	chr12:22201287-22201877	K562	blood:	n/a	n/a
3	ARID3A	chr12:22199203-22199262	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:22196922-22197161	K562	blood:	n/a	n/a
5	ARID3A	chr12:22208041-22208102	K562	blood:	n/a	n/a
6	ARID3A	chr12:22199673-22200785	K562	blood:	n/a	n/a
7	ARID3A	chr12:22199665-22200132	HepG2	liver:	n/a	n/a
8	ATF1	chr12:22199662-22200019	K562	blood:	n/a	n/a
9	ATF2	chr12:22199468-22200067	GM12878	blood:	n/a	n/a
10	ATF3	chr12:22199005-22199231	K562	blood:	n/a	n/a
11	BACH1	chr12:22199004-22199484	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr12:22199824-22200685	K562	blood:	n/a	n/a
13	BHLHE40	chr12:22198941-22199314	K562	blood:	n/a	n/a
14	BHLHE40	chr12:22199048-22199253	GM12878	blood:	n/a	n/a
15	BHLHE40	chr12:22199660-22200755	K562	blood:	n/a	n/a
16	BRCA1	chr12:22198996-22199420	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr12:22199261-22199463	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr12:22199173-22199402	HepG2	liver:	n/a	n/a
19	CBX3	chr12:22199574-22200072	K562	blood:	n/a	n/a
20	CBX3	chr12:22201540-22201995	K562	blood:	n/a	n/a
21	CBX3	chr12:22226875-22227206	K562	blood:	n/a	n/a
22	CCNT2	chr12:22199109-22200011	K562	blood:	n/a	chr12:22199565-22199574
23	CCNT2	chr12:22201586-22201946	K562	blood:	n/a	n/a
24	CCNT2	chr12:22219311-22219506	K562	blood:	n/a	n/a
25	CEBPB	chr12:22194863-22195218	HepG2	liver:	n/a	n/a
26	CEBPB	chr12:22203479-22203707	K562	blood:	n/a	n/a
27	CEBPB	chr12:22212139-22212358	K562	blood:	n/a	chr12:22212230-22212243 chr12:22212218-22212229
28	CEBPB	chr12:22204107-22204341	HepG2	liver:	n/a	n/a
29	CEBPB	chr12:22203518-22203736	HepG2	liver:	n/a	n/a
30	CEBPB	chr12:22200402-22200852	K562	blood:	n/a	n/a
31	CEBPB	chr12:22212148-22212382	HepG2	liver:	n/a	chr12:22212230-22212243 chr12:22212218-22212229
32	CEBPB	chr12:22201509-22201916	K562	blood:	n/a	n/a
33	CEBPB	chr12:22215944-22215953	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr12:22195896-22196485	IMR90	lung:	n/a	chr12:22196164-22196175
35	CEBPB	chr12:22212117-22212542	IMR90	lung:	n/a	chr12:22212230-22212243 chr12:22212517-22212526 chr12:22212218-22212229
36	CEBPB	chr12:22195992-22196328	K562	blood:	n/a	chr12:22196164-22196175
37	CEBPB	chr12:22196030-22196504	HepG2	liver:	n/a	chr12:22196164-22196175
38	CEBPB	chr12:22201592-22201962	K562	blood:	n/a	n/a
39	CEBPB	chr12:22204076-22204420	HepG2	liver:	n/a	n/a
40	CEBPB	chr12:22233347-22233593	K562	blood:	n/a	n/a
41	CEBPB	chr12:22215898-22216113	HepG2	liver:	n/a	chr12:22215985-22215996 chr12:22215984-22215997
42	CEBPB	chr12:22199616-22200100	K562	blood:	n/a	n/a
43	CEBPB	chr12:22200432-22200818	K562	blood:	n/a	n/a
44	CEBPB	chr12:22204140-22204391	K562	blood:	n/a	n/a
45	CEBPB	chr12:22195922-22196559	A549	lung:	n/a	chr12:22196164-22196175
46	CEBPB	chr12:22196008-22196505	Hela-S3	cervix:	n/a	chr12:22196164-22196175
47	CEBPB	chr12:22212117-22212367	A549	lung:	n/a	chr12:22212230-22212243 chr12:22212218-22212229
48	CEBPB	chr12:22199624-22200013	K562	blood:	n/a	n/a
49	CEBPD	chr12:22199507-22200165	K562	blood:	n/a	n/a
50	CEBPD	chr12:22200390-22200863	K562	blood:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:22199522-22199572	HRCEpiC	kidney:	n/a
2	chr12:22199522-22199572	HRCEpiC	kidney:	n/a
3	chr12:22199200-22199250	GM12892	blood:	n/a
4	chr12:22198364-22198414	HRPEpiC	eye:	n/a
5	chr12:22199391-22199441	SK-N-SH_RA	brain:	n/a
6	chr12:22198470-22198520	MCF-7	breast:	n/a
7	chr12:22196840-22196890	SK-N-MC	brain:	n/a
8	chr12:22218253-22218303	NH-A	brain:	n/a
9	chr12:22200200-22200250	U87	brain:	n/a
10	chr12:22200200-22200250	ProgFib	skin:	n/a
11	chr12:22198470-22198520	NHBE	bronchial:	n/a
12	chr12:22199200-22199250	U87	brain:	n/a
13	chr12:22198364-22198414	MCF10A-Er-Src	breast:	n/a
14	chr12:22199391-22199441	HEEpiC	esophagus:	n/a
15	chr12:22196840-22196890	GM06990	blood:	n/a
16	chr12:22199391-22199441	HRE	kidney:	n/a
17	chr12:22199522-22199572	HNPCEpiC	eye:	n/a
18	chr12:22198725-22198775	SAEC	small airway:	n/a
19	chr12:22199588-22199638	Caco-2	colon:	n/a
20	chr12:22218253-22218303	HIPEpiC	eye:	n/a
21	chr12:22199579-22199629	HNPCEpiC	eye:	n/a
22	chr12:22199200-22199250	MCF10A-Er-Src	breast:	n/a
23	chr12:22199588-22199638	HUVEC	blood vessel:	n/a
24	chr12:22198973-22199023	A549	lung:	n/a
25	chr12:22201822-22201872	RPTEC	kidney:	n/a
26	chr12:22218253-22218303	A549	lung:	n/a
27	chr12:22201822-22201872	BE2_C	brain:	n/a
28	chr12:22199579-22199629	ECC-1	luminal epithelium:	n/a
29	chr12:22199391-22199441	AoSMC	blood vessel:	n/a
30	chr12:22199579-22199629	PrEC	prostate:	n/a
31	chr12:22199391-22199441	NHBE	bronchial:	n/a
32	chr12:22199200-22199250	NH-A	brain:	n/a
33	chr12:22198973-22199023	SKMC	muscle:	n/a
34	chr12:22198364-22198414	AG04449	skin:	fetal
35	chr12:22196840-22196890	A549	lung:	n/a
36	chr12:22218253-22218303	HNPCEpiC	eye:	n/a
37	chr12:22218253-22218303	ProgFib	skin:	n/a
38	chr12:22199522-22199572	Jurkat	blood:	n/a
39	chr12:22198973-22199023	HCPEpiC	choroid plexus:	n/a
40	chr12:22199391-22199441	BE2_C	brain:	n/a
41	chr12:22199522-22199572	H1-hESC	embryonic stem cell:	embryo
42	chr12:22199588-22199638	Hela-S3	cervix:	n/a
43	chr12:22199522-22199572	HEK293	kidney:	embryo
44	chr12:22198973-22199023	HepG2	liver:	n/a
45	chr12:22200200-22200250	HIPEpiC	eye:	n/a
46	chr12:22200200-22200250	H1-hESC	embryonic stem cell:	embryo
47	chr12:22199579-22199629	HCF	heart:	n/a
48	chr12:22199522-22199572	NB4	blood:	n/a
49	chr12:22198364-22198414	Hepatocyte	liver:	n/a
50	chr12:22218253-22218303	GM12892	blood:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:22168668..22170617-chr12:22199728..22202594,2	K562	blood:
2	chr12:22198261..22201239-chr12:22208109..22210711,2	K562	blood:
3	chr12:22189309..22194681-chr12:22195009..22198971,6	K562	blood:
4	chr12:22198387..22201385-chr12:22209134..22211301,2	K562	blood:
5	chr12:22199214..22200031-chr14:75745051..75746052,3	Hela-S3	cervix:
6	chr12:22203921..22206996-chr12:22207489..22209509,3	MCF-7	breast:
7	chr12:22224430..22227199-chr12:22778896..22781000,2	K562	blood:
8	chr12:22199607..22203065-chr12:22209223..22212376,4	MCF-7	breast:
9	chr12:22198915..22199528-chr19:49149371..49150045,2	HCT-116	colon:
10	chr12:22201346..22203294-chr12:22211554..22213223,2	K562	blood:
11	chr12:22214575..22216946-chr12:22221918..22224403,2	MCF-7	breast:
12	chr12:22223038..22225201-chr12:22226314..22228926,2	K562	blood:
13	chr12:21809057..21812387-chr12:22198017..22201408,5	K562	blood:
14	chr12:22199280..22201713-chr12:22218617..22220760,2	MCF-7	breast:
15	chr12:22215672..22218062-chr12:22219622..22221151,2	MCF-7	breast:
16	chr12:22193469..22195434-chr12:22197628..22199736,2	MCF-7	breast:
17	chr12:22199607..22203065-chr12:22209223..22212376,4	MCF-7	breast:
18	chr12:22208985..22211876-chr12:22213406..22216314,4	K562	blood:
19	chr12:22233451..22235429-chr12:22242866..22245840,2	K562	blood:
20	chr12:22197898..22202531-chr12:22202616..22208309,9	MCF-7	breast:
21	chr12:22221579..22223615-chr12:22227921..22230483,2	K562	blood:
22	chr12:21653863..21655490-chr12:22198033..22200548,2	MCF-7	breast:
23	chr12:22199280..22201713-chr12:22218617..22220760,2	MCF-7	breast:
24	chr12:22220400..22223004-chr12:22489207..22490731,2	K562	blood:
25	chr12:22198711..22199449-chr3:101404905..101405783,2	HCT-116	colon:
26	chr12:22199115..22199725-chr2:74405298..74405841,2	Hela-S3	cervix:
27	chr12:22219317..22222096-chr12:22223518..22225466,2	K562	blood:
28	chr12:22201346..22203294-chr12:22211554..22213223,2	K562	blood:
29	chr12:22202159..22205097-chr12:22205355..22208249,2	K562	blood:
30	chr12:22215672..22218062-chr12:22219622..22221151,2	MCF-7	breast:
31	chr12:22198506..22201323-chr12:22230927..22232456,2	K562	blood:
32	chr12:21810040..21811598-chr12:22199796..22202125,2	K562	blood:
33	chr12:22201346..22204337-chr12:22211554..22214294,3	K562	blood:
34	chr12:22207097..22209005-chr12:22210262..22212255,2	K562	blood:
35	chr12:22197898..22202531-chr12:22202616..22208309,9	MCF-7	breast:
36	chr12:22189100..22191552-chr12:22195163..22197054,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST8SIA1-2	chr12:22221797-22221954	NONHSAT027264
2	lnc-ST8SIA1-2	chr12:22219353-22219369	NONHSAT027265
3	lnc-ST8SIA1-2	chr12:22216707-22216861	NONHSAT027264
4	lnc-ST8SIA1-2	chr12:22223506-22223547	NONHSAT027264
5	lnc-ST8SIA1-2	chr12:22219279-22219369	NONHSAT027264
6	lnc-ST8SIA1-2	chr12:22223506-22223559	NONHSAT027265
7	lnc-ABCC9-1	chr12:22226442-22226449	NONHSAT027266

No data

Variant related genes	Relation type
ST8SIA1	TF binding region
CMAS	TF binding region
ST8SIA1	CpG island
CMAS	CpG island
ENSG00000170345	chromatin interactions
ENSG00000111716	chromatin interactions
ENSG00000111726	chromatin interactions
ENSG00000114391	chromatin interactions
ENSG00000111728	chromatin interactions
ENSG00000114978	chromatin interactions
ENSG00000004700	chromatin interactions
ENSG00000063180	chromatin interactions
ENSG00000111711	chromatin interactions

Extended variants
information (count: 1478 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1478 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10841927	chr12:22195202-22195203	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112623872	chr12:22195205-22195206	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557746998	chr12:22195227-22195228	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs571227787	chr12:22195240-22195241	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs536917433	chr12:22195296-22195297	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs144011383	chr12:22195352-22195353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369537404	chr12:22195353-22195354	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200452621	chr12:22195354-22195355	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201474469	chr12:22195356-22195357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557235860	chr12:22195394-22195395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377047161	chr12:22195417-22195418	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs76357652	chr12:22195469-22195470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76660626	chr12:22195500-22195501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139331513	chr12:22195534-22195535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572197887	chr12:22195544-22195545	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs541134854	chr12:22195602-22195603	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs145532476	chr12:22195738-22195739	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs2955499	chr12:22195805-22195806	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2970793	chr12:22195840-22195841	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563987337	chr12:22195869-22195870	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs529606517	chr12:22195911-22195912	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs549592542	chr12:22195969-22195970	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs190389722	chr12:22196003-22196004	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs528147978	chr12:22196024-22196025	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs181711789	chr12:22196052-22196053	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs375379633	chr12:22196080-22196081	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs186778176	chr12:22196112-22196113	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs550330627	chr12:22196147-22196148	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs116066617	chr12:22196160-22196161	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs536181087	chr12:22196229-22196230	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs114303614	chr12:22196232-22196233	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs578121326	chr12:22196233-22196234	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs2955500	chr12:22196258-22196259	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs2955501	chr12:22196297-22196298	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs114577134	chr12:22196317-22196318	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs191216250	chr12:22196371-22196372	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs78623930	chr12:22196389-22196390	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs574346165	chr12:22196393-22196394	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs543349102	chr12:22196394-22196395	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs147289543	chr12:22196466-22196467	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs140943002	chr12:22196538-22196539	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs551719962	chr12:22196602-22196603	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs564969009	chr12:22196639-22196640	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs182545382	chr12:22196662-22196663	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs144877863	chr12:22196667-22196668	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs12315605	chr12:22196697-22196698	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
47	rs368854102	chr12:22196795-22196796	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs536093641	chr12:22196811-22196812	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs373250729	chr12:22196814-22196815	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs185427050	chr12:22196816-22196817	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
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
Testicular germ cell tumor	18059402	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	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:1190 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22188200-22199200	Weak transcription	Aorta	Aorta
2	chr12:22188400-22198800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:22192800-22199200	Weak transcription	Placenta	Placenta
4	chr12:22194400-22196200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:22194400-22196400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:22195000-22196000	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr12:22195000-22196000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr12:22195000-22196400	Enhancers	HMEC	breast
9	chr12:22195000-22196600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:22195000-22196600	Enhancers	Osteobl	bone
11	chr12:22195000-22198600	Enhancers	K562	blood
12	chr12:22195000-22198800	Enhancers	HepG2	liver
13	chr12:22195000-22199000	Enhancers	Fetal Intestine Small	intestine
14	chr12:22195200-22195400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr12:22195200-22195400	Enhancers	NHLF	lung
16	chr12:22195200-22196200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr12:22195200-22196400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:22195200-22196400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:22195200-22197200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:22195400-22195800	Enhancers	A549	lung
21	chr12:22195400-22196200	Weak transcription	NHLF	lung
22	chr12:22195600-22196000	Enhancers	Colonic Mucosa	Colon
23	chr12:22195600-22196400	Enhancers	NH-A	brain
24	chr12:22195600-22197200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:22195800-22196400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr12:22195800-22196800	Flanking Active TSS	A549	lung
27	chr12:22195800-22198600	Enhancers	Duodenum Mucosa	Duodenum
28	chr12:22196000-22196200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr12:22196000-22196200	Weak transcription	Small Intestine	intestine
30	chr12:22196000-22196400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr12:22196000-22197400	Weak transcription	Colonic Mucosa	Colon
32	chr12:22196000-22199000	Enhancers	Fetal Intestine Large	intestine
33	chr12:22196200-22196400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:22196200-22196400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:22196200-22196400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:22196200-22196400	Enhancers	Pancreas	Pancrea
37	chr12:22196200-22196400	Enhancers	Small Intestine	intestine
38	chr12:22196200-22196400	Enhancers	NHLF	lung
39	chr12:22196200-22196600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr12:22196200-22197200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:22196200-22197400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:22196200-22197800	Enhancers	Stomach Mucosa	stomach
43	chr12:22196200-22199000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:22196400-22196600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:22196400-22196600	Enhancers	Fetal Kidney	kidney
46	chr12:22196400-22197000	Weak transcription	Pancreas	Pancrea
47	chr12:22196400-22197400	Weak transcription	Small Intestine	intestine
48	chr12:22196400-22198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:22196400-22198600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr12:22196400-22199000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links