Variant report

Variant	esv1850259
Chromosome Location	chr12:22198865-22244741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:919)
CpG islands
(count:550)
Chromatin interactive
region (count:41)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:919 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:22236196-22236357	K562	blood:	n/a	n/a
2	ARID3A	chr12:22208041-22208102	K562	blood:	n/a	n/a
3	ARID3A	chr12:22199673-22200785	K562	blood:	n/a	n/a
4	ARID3A	chr12:22201287-22201877	K562	blood:	n/a	n/a
5	ARID3A	chr12:22234971-22235617	K562	blood:	n/a	n/a
6	ARID3A	chr12:22199203-22199262	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:22199665-22200132	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:22219457-22219592	K562	blood:	n/a	n/a
9	ATF1	chr12:22199662-22200019	K562	blood:	n/a	n/a
10	ATF1	chr12:22235081-22235738	K562	blood:	n/a	n/a
11	ATF2	chr12:22199468-22200067	GM12878	blood:	n/a	n/a
12	ATF3	chr12:22199005-22199231	K562	blood:	n/a	n/a
13	BACH1	chr12:22199824-22200685	K562	blood:	n/a	n/a
14	BACH1	chr12:22199004-22199484	H1-hESC	embryonic stem cell:	n/a	n/a
15	BHLHE40	chr12:22235436-22235465	HepG2	liver:	n/a	n/a
16	BHLHE40	chr12:22199660-22200755	K562	blood:	n/a	n/a
17	BHLHE40	chr12:22198941-22199314	K562	blood:	n/a	n/a
18	BHLHE40	chr12:22199048-22199253	GM12878	blood:	n/a	n/a
19	BRCA1	chr12:22241195-22241201	GM12878	blood:	n/a	n/a
20	BRCA1	chr12:22199261-22199463	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr12:22198996-22199420	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr12:22199173-22199402	HepG2	liver:	n/a	n/a
23	CBX3	chr12:22235177-22235681	K562	blood:	n/a	n/a
24	CBX3	chr12:22199574-22200072	K562	blood:	n/a	n/a
25	CBX3	chr12:22226875-22227206	K562	blood:	n/a	n/a
26	CBX3	chr12:22201540-22201995	K562	blood:	n/a	n/a
27	CCNT2	chr12:22219311-22219506	K562	blood:	n/a	n/a
28	CCNT2	chr12:22199109-22200011	K562	blood:	n/a	chr12:22199565-22199574
29	CCNT2	chr12:22201586-22201946	K562	blood:	n/a	n/a
30	CEBPB	chr12:22204107-22204341	HepG2	liver:	n/a	n/a
31	CEBPB	chr12:22236153-22236413	A549	lung:	n/a	n/a
32	CEBPB	chr12:22236081-22236394	K562	blood:	n/a	n/a
33	CEBPB	chr12:22215944-22215953	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr12:22235025-22235618	K562	blood:	n/a	chr12:22235301-22235309
35	CEBPB	chr12:22201509-22201916	K562	blood:	n/a	n/a
36	CEBPB	chr12:22201592-22201962	K562	blood:	n/a	n/a
37	CEBPB	chr12:22235161-22235552	HepG2	liver:	n/a	chr12:22235301-22235309
38	CEBPB	chr12:22212139-22212358	K562	blood:	n/a	chr12:22212230-22212243 chr12:22212218-22212229
39	CEBPB	chr12:22204140-22204391	K562	blood:	n/a	n/a
40	CEBPB	chr12:22200402-22200852	K562	blood:	n/a	n/a
41	CEBPB	chr12:22212117-22212542	IMR90	lung:	n/a	chr12:22212230-22212243 chr12:22212517-22212526 chr12:22212218-22212229
42	CEBPB	chr12:22215898-22216113	HepG2	liver:	n/a	chr12:22215985-22215996 chr12:22215984-22215997
43	CEBPB	chr12:22203518-22203736	HepG2	liver:	n/a	n/a
44	CEBPB	chr12:22199624-22200013	K562	blood:	n/a	n/a
45	CEBPB	chr12:22233347-22233593	K562	blood:	n/a	n/a
46	CEBPB	chr12:22235092-22235556	K562	blood:	n/a	chr12:22235301-22235309
47	CEBPB	chr12:22204076-22204420	HepG2	liver:	n/a	n/a
48	CEBPB	chr12:22212117-22212367	A549	lung:	n/a	chr12:22212230-22212243 chr12:22212218-22212229
49	CEBPB	chr12:22203479-22203707	K562	blood:	n/a	n/a
50	CEBPB	chr12:22212148-22212382	HepG2	liver:	n/a	chr12:22212230-22212243 chr12:22212218-22212229

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:22199588-22199638	SK-N-SH	brain:	n/a
2	chr12:22199588-22199638	SK-N-SH	brain:	n/a
3	chr12:22199391-22199441	SK-N-MC	brain:	n/a
4	chr12:22218253-22218303	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:22199579-22199629	Caco-2	colon:	n/a
6	chr12:22218253-22218303	AG04449	skin:	fetal
7	chr12:22218253-22218303	SK-N-SH	brain:	n/a
8	chr12:22199579-22199629	MCF10A-Er-Src	breast:	n/a
9	chr12:22198973-22199023	HCT-116	colon:	n/a
10	chr12:22198973-22199023	HRE	kidney:	n/a
11	chr12:22199579-22199629	H1-hESC	embryonic stem cell:	embryo
12	chr12:22199579-22199629	GM06990	blood:	n/a
13	chr12:22199200-22199250	HAEpiC	amniotic membrane:	n/a
14	chr12:22199391-22199441	HRCEpiC	kidney:	n/a
15	chr12:22198973-22199023	ovcar-3	ovarian:	n/a
16	chr12:22198973-22199023	HCM	heart:	n/a
17	chr12:22200200-22200250	Hepatocyte	liver:	n/a
18	chr12:22199391-22199441	HIPEpiC	eye:	n/a
19	chr12:22199391-22199441	AG04449	skin:	fetal
20	chr12:22201822-22201872	AG09309	skin:	n/a
21	chr12:22199588-22199638	HepG2	liver:	n/a
22	chr12:22200200-22200250	HCM	heart:	n/a
23	chr12:22199588-22199638	GM12891	blood:	n/a
24	chr12:22199588-22199638	K562	blood:	n/a
25	chr12:22201822-22201872	HRE	kidney:	n/a
26	chr12:22218253-22218303	H1-hESC	embryonic stem cell:	embryo
27	chr12:22199391-22199441	LNCaP	prostate:	n/a
28	chr12:22199391-22199441	ProgFib	skin:	n/a
29	chr12:22201822-22201872	HL-60	blood:	n/a
30	chr12:22201822-22201872	Jurkat	blood:	n/a
31	chr12:22199391-22199441	Caco-2	colon:	n/a
32	chr12:22218253-22218303	SK-N-MC	brain:	n/a
33	chr12:22199391-22199441	NHDF-neo	bronchial:	n/a
34	chr12:22198973-22199023	PrEC	prostate:	n/a
35	chr12:22199391-22199441	ovcar-3	ovarian:	n/a
36	chr12:22200200-22200250	GM12891	blood:	n/a
37	chr12:22199522-22199572	NHDF-neo	bronchial:	n/a
38	chr12:22199588-22199638	CMK	blood:	n/a
39	chr12:22199522-22199572	AG10803	skin:	n/a
40	chr12:22201822-22201872	LNCaP	prostate:	n/a
41	chr12:22199200-22199250	HCPEpiC	choroid plexus:	n/a
42	chr12:22199391-22199441	GM19239	blood:	n/a
43	chr12:22218253-22218303	SKMC	muscle:	n/a
44	chr12:22199579-22199629	AG04449	skin:	fetal
45	chr12:22199200-22199250	PrEC	prostate:	n/a
46	chr12:22199200-22199250	GM12878	blood:	n/a
47	chr12:22218253-22218303	RPTEC	kidney:	n/a
48	chr12:22199391-22199441	HCT-116	colon:	n/a
49	chr12:22199588-22199638	NHBE	bronchial:	n/a
50	chr12:22200200-22200250	SAEC	small airway:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:22189309..22194681-chr12:22195009..22198971,6	K562	blood:
2	chr12:22199607..22203065-chr12:22209223..22212376,4	MCF-7	breast:
3	chr12:22199115..22199725-chr2:74405298..74405841,2	Hela-S3	cervix:
4	chr12:22198387..22201385-chr12:22209134..22211301,2	K562	blood:
5	chr12:22235862..22236436-chr12:22596152..22596984,4	MCF-7	breast:
6	chr12:22198506..22201323-chr12:22230927..22232456,2	K562	blood:
7	chr12:22199214..22200031-chr14:75745051..75746052,3	Hela-S3	cervix:
8	chr12:22168668..22170617-chr12:22199728..22202594,2	K562	blood:
9	chr12:22201346..22203294-chr12:22211554..22213223,2	K562	blood:
10	chr12:22201346..22204337-chr12:22211554..22214294,3	K562	blood:
11	chr12:22224430..22227199-chr12:22778896..22781000,2	K562	blood:
12	chr12:22220400..22223004-chr12:22489207..22490731,2	K562	blood:
13	chr12:22215672..22218062-chr12:22219622..22221151,2	MCF-7	breast:
14	chr12:22223038..22225201-chr12:22226314..22228926,2	K562	blood:
15	chr12:22199280..22201713-chr12:22218617..22220760,2	MCF-7	breast:
16	chr12:22208985..22211876-chr12:22213406..22216314,4	K562	blood:
17	chr12:22214575..22216946-chr12:22221918..22224403,2	MCF-7	breast:
18	chr12:22236157..22237736-chr12:22238462..22241386,2	K562	blood:
19	chr12:22198261..22201239-chr12:22208109..22210711,2	K562	blood:
20	chr12:22233451..22235429-chr12:22242866..22245840,2	K562	blood:
21	chr12:22215672..22218062-chr12:22219622..22221151,2	MCF-7	breast:
22	chr12:22197898..22202531-chr12:22202616..22208309,9	MCF-7	breast:
23	chr12:22241159..22243992-chr12:22244769..22247704,2	K562	blood:
24	chr12:22235755..22236324-chr12:22612919..22613626,2	MCF-7	breast:
25	chr12:22203921..22206996-chr12:22207489..22209509,3	MCF-7	breast:
26	chr12:22202159..22205097-chr12:22205355..22208249,2	K562	blood:
27	chr12:21809057..21812387-chr12:22198017..22201408,5	K562	blood:
28	chr12:21810040..21811598-chr12:22199796..22202125,2	K562	blood:
29	chr12:22233451..22235429-chr12:22242866..22245840,2	K562	blood:
30	chr12:22236157..22237736-chr12:22238462..22241386,2	K562	blood:
31	chr12:22198301..22201550-chr12:22239429..22242736,3	K562	blood:
32	chr12:22201346..22203294-chr12:22211554..22213223,2	K562	blood:
33	chr12:22221579..22223615-chr12:22227921..22230483,2	K562	blood:
34	chr12:21653863..21655490-chr12:22198033..22200548,2	MCF-7	breast:
35	chr12:22219317..22222096-chr12:22223518..22225466,2	K562	blood:
36	chr12:22199280..22201713-chr12:22218617..22220760,2	MCF-7	breast:
37	chr12:22198915..22199528-chr19:49149371..49150045,2	HCT-116	colon:
38	chr12:22197898..22202531-chr12:22202616..22208309,9	MCF-7	breast:
39	chr12:22198711..22199449-chr3:101404905..101405783,2	HCT-116	colon:
40	chr12:22207097..22209005-chr12:22210262..22212255,2	K562	blood:
41	chr12:22199607..22203065-chr12:22209223..22212376,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST8SIA1-2	chr12:22216707-22216861	NONHSAT027264
2	lnc-ST8SIA1-2	chr12:22223506-22223559	NONHSAT027265
3	lnc-ST8SIA1-2	chr12:22219279-22219369	NONHSAT027264
4	lnc-ABCC9-1	chr12:22235320-22235624	NONHSAT027266
5	lnc-ABCC9-1	chr12:22226442-22226449	NONHSAT027266
6	lnc-ST8SIA1-2	chr12:22223506-22223547	NONHSAT027264
7	lnc-ST8SIA1-2	chr12:22219353-22219369	NONHSAT027265
8	lnc-ST8SIA1-2	chr12:22221797-22221954	NONHSAT027264
9	lnc-ST8SIA1-2	chr12:22240798-22240858	NONHSAT027265

No data

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

Extended variants
information (count: 1529 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1529 , 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	rs2955503	chr12:22198865-22198866	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188276657	chr12:22198889-22198890	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs12319469	chr12:22198902-22198903	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs373565669	chr12:22198904-22198905	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs150844119	chr12:22198918-22198919	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs71530947	chr12:22198922-22198923	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552588270	chr12:22198925-22198926	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs574243756	chr12:22198962-22198963	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs28366051	chr12:22198999-22199000	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538160399	chr12:22199017-22199018	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs566469359	chr12:22199026-22199027	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs574715685	chr12:22199044-22199045	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs113491892	chr12:22199053-22199054	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs114938425	chr12:22199064-22199065	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs185871805	chr12:22199072-22199073	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs545476216	chr12:22199166-22199167	Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs11554349	chr12:22199235-22199236	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs138649790	chr12:22199315-22199316	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs576214529	chr12:22199324-22199325	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs542146352	chr12:22199391-22199392	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs144581080	chr12:22199404-22199405	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs371978033	chr12:22199411-22199412	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs575445939	chr12:22199431-22199432	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs140344263	chr12:22199433-22199434	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs12826863	chr12:22199436-22199437	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs547646358	chr12:22199441-22199442	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs375932647	chr12:22199460-22199461	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs368892363	chr12:22199504-22199505	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs373996306	chr12:22199522-22199523	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs375724390	chr12:22199523-22199524	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs532680301	chr12:22199537-22199538	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs369569903	chr12:22199538-22199539	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs373255619	chr12:22199540-22199541	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs535362881	chr12:22199549-22199550	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs552248835	chr12:22199573-22199574	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs569239483	chr12:22199586-22199587	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs538123718	chr12:22199588-22199589	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs374706836	chr12:22199662-22199663	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs548489358	chr12:22199704-22199705	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs145521053	chr12:22199705-22199706	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs369078791	chr12:22199728-22199729	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs190395352	chr12:22199779-22199780	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs373416505	chr12:22199834-22199835	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs576853012	chr12:22199858-22199859	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs12827678	chr12:22199871-22199872	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541824798	chr12:22199888-22199889	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs555837100	chr12:22199969-22199970	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs138109288	chr12:22200050-22200051	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs557603476	chr12:22200053-22200054	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs542109646	chr12:22200073-22200074	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	4 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:1140 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22188200-22199200	Weak transcription	Aorta	Aorta
2	chr12:22192800-22199200	Weak transcription	Placenta	Placenta
3	chr12:22195000-22199000	Enhancers	Fetal Intestine Small	intestine
4	chr12:22196000-22199000	Enhancers	Fetal Intestine Large	intestine
5	chr12:22196200-22199000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:22196400-22199000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:22196400-22199000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:22196400-22199000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:22196400-22199000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:22196400-22199000	Weak transcription	NHLF	lung
11	chr12:22196400-22199200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:22196400-22199200	Weak transcription	HMEC	breast
13	chr12:22196400-22199200	Weak transcription	NH-A	brain
14	chr12:22196600-22199000	Weak transcription	Osteobl	bone
15	chr12:22196600-22199200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:22197200-22199000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:22197400-22199000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:22197400-22199000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:22197400-22199000	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr12:22197400-22199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:22197600-22199000	Weak transcription	Pancreas	Pancrea
22	chr12:22197800-22199000	Weak transcription	A549	lung
23	chr12:22197800-22199200	Weak transcription	Stomach Mucosa	stomach
24	chr12:22198400-22199000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:22198400-22199000	Weak transcription	Colonic Mucosa	Colon
26	chr12:22198400-22199000	Weak transcription	Ovary	ovary
27	chr12:22198400-22200600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr12:22198600-22199000	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:22198600-22199000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr12:22198600-22199200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:22198600-22199200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr12:22198600-22199200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr12:22198600-22199200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:22198600-22199200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:22198600-22199200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:22198600-22199200	Weak transcription	Small Intestine	intestine
37	chr12:22198600-22199200	Weak transcription	K562	blood
38	chr12:22198600-22199800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:22198600-22200800	Active TSS	Stomach Smooth Muscle	stomach
40	chr12:22198800-22199000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr12:22198800-22199000	Flanking Active TSS	Fetal Kidney	kidney
42	chr12:22198800-22199000	Flanking Active TSS	Dnd41	blood
43	chr12:22198800-22199000	Weak transcription	HepG2	liver
44	chr12:22198800-22199600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:22198800-22199600	Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr12:22198800-22199600	Active TSS	Primary T cells fromperipheralblood	blood
47	chr12:22198800-22199600	Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr12:22198800-22199600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr12:22198800-22199800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:22198800-22199800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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