Variant report

Variant	esv3360133
Chromosome Location	chr18:44496254-44498652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:44497276-44497366	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:44497808-44498358	K562	blood:	n/a	n/a
3	ARID3A	chr18:44497591-44498031	HepG2	liver:	n/a	n/a
4	ATF2	chr18:44497666-44498183	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr18:44497631-44498034	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr18:44497353-44497643	H1-hESC	embryonic stem cell:	n/a	chr18:44497464-44497473 chr18:44497464-44497484
7	ATF3	chr18:44497310-44497614	K562	blood:	n/a	chr18:44497464-44497473 chr18:44497464-44497484
8	ATF3	chr18:44497264-44497622	HepG2	liver:	n/a	chr18:44497464-44497473 chr18:44497464-44497484
9	BACH1	chr18:44497244-44498424	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr18:44498006-44498377	K562	blood:	n/a	n/a
11	BHLHE40	chr18:44496513-44498261	K562	blood:	n/a	chr18:44497463-44497472 chr18:44497464-44497473 chr18:44497589-44497605 chr18:44497462-44497475 chr18:44497579-44497595 chr18:44497658-44497674 chr18:44497433-44497449
12	BHLHE40	chr18:44497289-44497537	HepG2	liver:	n/a	chr18:44497463-44497472 chr18:44497464-44497473 chr18:44497462-44497475 chr18:44497433-44497449
13	BHLHE40	chr18:44497310-44497608	HepG2	liver:	n/a	chr18:44497463-44497472 chr18:44497464-44497473 chr18:44497589-44497605 chr18:44497462-44497475 chr18:44497579-44497595 chr18:44497433-44497449
14	BHLHE40	chr18:44496886-44497910	HepG2	liver:	n/a	chr18:44497463-44497472 chr18:44497464-44497473 chr18:44497589-44497605 chr18:44497462-44497475 chr18:44497579-44497595 chr18:44497658-44497674 chr18:44497433-44497449
15	BHLHE40	chr18:44497301-44497544	A549	lung:	n/a	chr18:44497463-44497472 chr18:44497464-44497473 chr18:44497462-44497475 chr18:44497433-44497449
16	BHLHE40	chr18:44496660-44498028	GM12878	blood:	n/a	chr18:44497463-44497472 chr18:44497464-44497473 chr18:44497589-44497605 chr18:44497462-44497475 chr18:44497579-44497595 chr18:44497658-44497674 chr18:44497433-44497449
17	CCNT2	chr18:44498121-44498376	K562	blood:	n/a	n/a
18	CCNT2	chr18:44496873-44497870	K562	blood:	n/a	chr18:44497507-44497516 chr18:44497011-44497020
19	CEBPB	chr18:44497785-44498078	K562	blood:	n/a	chr18:44497882-44497899
20	CEBPB	chr18:44496808-44497523	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr18:44497762-44498282	H1-hESC	embryonic stem cell:	n/a	chr18:44497882-44497899
22	CEBPD	chr18:44497959-44498409	K562	blood:	n/a	n/a
23	CEBPD	chr18:44497241-44497701	HepG2	liver:	n/a	n/a
24	CHD1	chr18:44497174-44497348	GM12878	blood:	n/a	n/a
25	CHD1	chr18:44498152-44498423	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD1	chr18:44496255-44496935	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr18:44497395-44497725	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr18:44497576-44497939	GM12878	blood:	n/a	n/a
29	CHD2	chr18:44497114-44497381	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr18:44497618-44497839	HepG2	liver:	n/a	n/a
31	CHD2	chr18:44496709-44497875	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr18:44497889-44498135	K562	blood:	n/a	chr18:44498043-44498053
33	CHD2	chr18:44497117-44497434	K562	blood:	n/a	n/a
34	CHD2	chr18:44497633-44498175	H1-hESC	embryonic stem cell:	n/a	chr18:44498043-44498053
35	CHD2	chr18:44496732-44498233	GM12878	blood:	n/a	chr18:44498043-44498053
36	CHD2	chr18:44497149-44497357	HepG2	liver:	n/a	n/a
37	CREB1	chr18:44497190-44497746	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr18:44497212-44497787	A549	lung:	n/a	n/a
39	CREB1	chr18:44497274-44497743	K562	blood:	n/a	n/a
40	CREB1	chr18:44497056-44497866	HepG2	liver:	n/a	n/a
41	CREB1	chr18:44497098-44497934	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTBP2	chr18:44497176-44498243	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr18:44497480-44497630	GM12871	blood:	n/a	n/a
44	CTCF	chr18:44497552-44497632	ProgFib	skin:	n/a	n/a
45	CTCF	chr18:44497503-44497675	GM12878	blood:	n/a	n/a
46	CTCF	chr18:44497160-44497310	SK-N-SH_RA	brain:	n/a	chr18:44497197-44497210
47	CTCF	chr18:44497220-44497370	AG04449	skin:	n/a	n/a
48	CTCF	chr18:44497551-44497566	Lung_OC	lung:	n/a	n/a
49	CTCF	chr18:44497555-44497564	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr18:44497140-44497290	HMEC	breast:	n/a	chr18:44497197-44497210

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44498341-44498391	Jurkat	blood:	n/a
2	chr18:44498341-44498391	Jurkat	blood:	n/a
3	chr18:44498341-44498391	GM12892	blood:	n/a
4	chr18:44497831-44497881	ovcar-3	ovarian:	n/a
5	chr18:44498047-44498097	SK-N-SH	brain:	n/a
6	chr18:44498341-44498391	IMR90	lung:	fetal
7	chr18:44497604-44497654	PANC-1	pancreas:	n/a
8	chr18:44497499-44497549	RPTEC	kidney:	n/a
9	chr18:44498341-44498391	AG09309	skin:	n/a
10	chr18:44497831-44497881	HL-60	blood:	n/a
11	chr18:44498341-44498391	HRPEpiC	eye:	n/a
12	chr18:44497604-44497654	ECC-1	luminal epithelium:	n/a
13	chr18:44497604-44497654	GM19239	blood:	n/a
14	chr18:44497499-44497549	NHBE	bronchial:	n/a
15	chr18:44498341-44498391	AG10803	skin:	n/a
16	chr18:44497371-44497421	Caco-2	colon:	n/a
17	chr18:44497831-44497881	LNCaP	prostate:	n/a
18	chr18:44498047-44498097	T-47D	breast:	n/a
19	chr18:44497371-44497421	H1-hESC	embryonic stem cell:	embryo
20	chr18:44496911-44496961	GM19239	blood:	n/a
21	chr18:44497371-44497421	K562	blood:	n/a
22	chr18:44497371-44497421	Jurkat	blood:	n/a
23	chr18:44498047-44498097	ovcar-3	ovarian:	n/a
24	chr18:44497831-44497881	GM06990	blood:	n/a
25	chr18:44497604-44497654	GM12878	blood:	n/a
26	chr18:44498341-44498391	AG09319	gingival:	n/a
27	chr18:44497499-44497549	IMR90	lung:	fetal
28	chr18:44497831-44497881	ECC-1	luminal epithelium:	n/a
29	chr18:44497831-44497881	Jurkat	blood:	n/a
30	chr18:44496911-44496961	NT2-D1	testis:	n/a
31	chr18:44498047-44498097	BJ	skin:	n/a
32	chr18:44497499-44497549	AoSMC	blood vessel:	n/a
33	chr18:44498047-44498097	HNPCEpiC	eye:	n/a
34	chr18:44497499-44497549	ProgFib	skin:	n/a
35	chr18:44496911-44496961	RPTEC	kidney:	n/a
36	chr18:44497604-44497654	AG04450	lung:	fetal
37	chr18:44498341-44498391	AG04449	skin:	fetal
38	chr18:44498047-44498097	HPAEpiC	pulmonary alveolar:	n/a
39	chr18:44498341-44498391	U87	brain:	n/a
40	chr18:44496911-44496961	ECC-1	luminal epithelium:	n/a
41	chr18:44498341-44498391	BE2_C	brain:	n/a
42	chr18:44497499-44497549	HepG2	liver:	n/a
43	chr18:44498047-44498097	SK-N-MC	brain:	n/a
44	chr18:44497604-44497654	AG10803	skin:	n/a
45	chr18:44497831-44497881	HNPCEpiC	eye:	n/a
46	chr18:44497604-44497654	NH-A	brain:	n/a
47	chr18:44498047-44498097	GM12878	blood:	n/a
48	chr18:44497831-44497881	AG04450	lung:	fetal
49	chr18:44497831-44497881	RPTEC	kidney:	n/a
50	chr18:44498047-44498097	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:51900262..51903156-chr18:44496356..44498175,2	MCF-7	breast:
2	chr18:44422888..44425442-chr18:44495658..44497517,2	K562	blood:
3	chr18:44494535..44496872-chr18:44526864..44529810,3	MCF-7	breast:
4	chr11:65028772..65029575-chr18:44497156..44497741,2	NB4	blood:
5	chr18:44496509..44498962-chr18:44499238..44501525,3	MCF-7	breast:
6	chr18:44497079..44497631-chr6:26123993..26124759,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCEB3CL-2	chr18:44497285-44497383	NONHSAT059148
2	lnc-TCEB3CL-2	chr18:44497285-44497313	NONHSAT059149

Variant related genes	Relation type
PIAS2	TF binding region
KATNAL2	TF binding region
PIAS2	CpG island
KATNAL2	CpG island
ENSG00000258893	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000078043	chromatin interactions
ENSG00000014138	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574997938	chr18:44496303-44496304	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs149338799	chr18:44496342-44496343	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557458694	chr18:44496346-44496347	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs547991755	chr18:44496355-44496356	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs182951683	chr18:44496356-44496357	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs34185543	chr18:44496366-44496367	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs1893428	chr18:44496367-44496368	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs372891175	chr18:44496380-44496381	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs561429771	chr18:44496381-44496382	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs530323819	chr18:44496420-44496421	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs143649527	chr18:44496454-44496455	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs76316241	chr18:44496458-44496459	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs556542695	chr18:44496461-44496462	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs570372956	chr18:44496486-44496487	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs531198522	chr18:44496492-44496493	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs550996230	chr18:44496496-44496497	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs557905996	chr18:44496574-44496575	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs571327431	chr18:44496648-44496649	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs116425739	chr18:44496670-44496671	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs148068681	chr18:44496684-44496685	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs553466613	chr18:44496814-44496815	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs567309045	chr18:44496847-44496848	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs536451236	chr18:44496858-44496859	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs556182676	chr18:44496881-44496882	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs115805160	chr18:44496921-44496922	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs368078409	chr18:44496930-44496931	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs545061490	chr18:44496943-44496944	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs559023120	chr18:44497022-44497023	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs556728812	chr18:44497041-44497042	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs76704819	chr18:44497045-44497046	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs541494024	chr18:44497056-44497057	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs561368808	chr18:44497073-44497074	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs530227612	chr18:44497099-44497100	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs544033590	chr18:44497111-44497112	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs12955979	chr18:44497116-44497117	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs563812243	chr18:44497131-44497132	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs532867686	chr18:44497163-44497164	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs552472794	chr18:44497203-44497204	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs183142966	chr18:44497224-44497225	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs527300805	chr18:44497277-44497278	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs547044257	chr18:44497349-44497350	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
42	rs567403431	chr18:44497350-44497351	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
43	rs536051034	chr18:44497391-44497392	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs556359835	chr18:44497397-44497398	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs371863179	chr18:44497588-44497589	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs4890706	chr18:44497592-44497593	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs369816318	chr18:44497593-44497594	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs374096853	chr18:44497631-44497632	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs572421426	chr18:44497678-44497679	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs138641733	chr18:44497683-44497684	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	21569311	CNVD
small cell lung cancer	17426248	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44469800-44496400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr18:44492200-44496800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:44493000-44496400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr18:44494000-44496600	Weak transcription	Gastric	stomach
5	chr18:44494000-44496600	Weak transcription	Pancreas	Pancrea
6	chr18:44494600-44496400	Enhancers	Esophagus	oesophagus
7	chr18:44494600-44496400	Weak transcription	Left Ventricle	heart
8	chr18:44495000-44496400	Enhancers	Small Intestine	intestine
9	chr18:44495200-44496400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:44495200-44496600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr18:44495200-44496600	Flanking Active TSS	Dnd41	blood
12	chr18:44495400-44496400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr18:44495400-44496400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr18:44495400-44496600	Enhancers	Primary B cells from peripheral blood	blood
15	chr18:44495400-44496600	Flanking Active TSS	Hela-S3	cervix
16	chr18:44495400-44498200	Active TSS	NHLF	lung
17	chr18:44495400-44498400	Active TSS	H1 Cell Line	embryonic stem cell
18	chr18:44495600-44496400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr18:44495600-44496400	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr18:44495600-44496400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr18:44495600-44496600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr18:44495600-44496600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr18:44495600-44498200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr18:44495600-44498200	Active TSS	K562	blood
25	chr18:44495600-44498400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr18:44495600-44498600	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr18:44495800-44496400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr18:44495800-44496400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:44495800-44496400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:44495800-44496400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr18:44495800-44496400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr18:44495800-44496400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr18:44495800-44496400	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr18:44495800-44496400	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr18:44495800-44496400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr18:44495800-44496400	Enhancers	Lung	lung
37	chr18:44495800-44496400	Enhancers	Stomach Mucosa	stomach
38	chr18:44495800-44496600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr18:44495800-44496600	Flanking Active TSS	Fetal Kidney	kidney
40	chr18:44495800-44496800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr18:44495800-44496800	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr18:44495800-44496800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr18:44495800-44496800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr18:44495800-44497000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr18:44495800-44497000	Flanking Active TSS	Thymus	Thymus
46	chr18:44495800-44497800	Active TSS	HepG2	liver
47	chr18:44495800-44498000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:44495800-44498000	Active TSS	Osteobl	bone
49	chr18:44495800-44498800	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr18:44495800-44498800	Active TSS	HUES64 Cell Line	embryonic stem cell

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