Variant report

Variant	nsv1009107
Chromosome Location	chr2:53896767-53946913
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	chr2:53928413-53928764	K562	blood:	n/a	n/a
2	ARID3A	chr2:53942779-53943047	HepG2	liver:	n/a	n/a
3	BACH1	chr2:53928536-53928700	K562	blood:	n/a	n/a
4	CBX3	chr2:53936100-53936437	K562	blood:	n/a	n/a
5	CBX3	chr2:53936090-53936485	K562	blood:	n/a	n/a
6	CEBPB	chr2:53896884-53897403	K562	blood:	n/a	n/a
7	CEBPB	chr2:53940521-53940567	K562	blood:	n/a	n/a
8	CEBPB	chr2:53923351-53923501	A549	lung:	n/a	n/a
9	CTCF	chr2:53942840-53942990	K562	blood:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
10	CTCF	chr2:53942815-53943011	K562	blood:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
11	CTCF	chr2:53942820-53942994	Spleen_OC	spleen:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
12	CTCF	chr2:53942784-53943030	HUVEC	blood vessel:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
13	CTCF	chr2:53942480-53942630	HMEC	breast:	n/a	n/a
14	CTCF	chr2:53942800-53942950	NHEK	skin:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
15	CTCF	chr2:53942720-53942870	GM12867	blood:	n/a	n/a
16	CTCF	chr2:53942780-53942930	AG09309	skin:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
17	CTCF	chr2:53942920-53943070	BE2_C	brain:	n/a	n/a
18	CTCF	chr2:53942760-53942910	WI-38	lung:	n/a	n/a
19	CTCF	chr2:53942820-53942970	HMEC	breast:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
20	CTCF	chr2:53942820-53942970	NHDF-neo	bronchial:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
21	CTCF	chr2:53942766-53943147	MCF-7	breast:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
22	CTCF	chr2:53942840-53942990	HVMF	connective:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
23	CTCF	chr2:53942609-53943144	HCT-116	colon:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
24	CTCF	chr2:53942820-53942970	AG10803	skin:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
25	CTCF	chr2:53943300-53943450	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr2:53942820-53943008	LNCaP	prostate:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
27	CTCF	chr2:53942783-53942943	SK-N-SH_RA	brain:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
28	CTCF	chr2:53942820-53942970	HRE	kidney:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
29	CTCF	chr2:53942807-53942983	HepG2	liver:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
30	CTCF	chr2:53942520-53942670	GM12872	blood:	n/a	n/a
31	CTCF	chr2:53942800-53942950	GM12875	blood:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
32	CTCF	chr2:53942820-53942970	HUVEC	blood vessel:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
33	CTCF	chr2:53942800-53942950	GM12872	blood:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
34	CTCF	chr2:53942875-53942930	Lung_OC	lung:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
35	CTCF	chr2:53943220-53943370	GM12865	blood:	n/a	n/a
36	CTCF	chr2:53942864-53942971	GM10266	blood:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
37	CTCF	chr2:53942940-53943090	HCT-116	colon:	n/a	n/a
38	CTCF	chr2:53942871-53942967	Kidney_OC	kidney:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
39	CTCF	chr2:53940956-53940991	Fibrobl	skin:	n/a	n/a
40	CTCF	chr2:53942840-53942990	HMF	breast:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
41	CTCF	chr2:53943180-53943330	BJ	skin:	n/a	n/a
42	CTCF	chr2:53943180-53943330	GM12878	blood:	n/a	n/a
43	CTCF	chr2:53942780-53942930	HRE	kidney:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
44	CTCF	chr2:53942820-53942970	GM12865	blood:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
45	CTCF	chr2:53942820-53942970	HPAF	blood vessel:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
46	CTCF	chr2:53942813-53942995	LNCaP	prostate:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
47	CTCF	chr2:53942820-53942970	HRPEpiC	eye:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
48	CTCF	chr2:53942840-53942990	GM06990	blood:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
49	CTCF	chr2:53942880-53943030	NB4	blood:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919
50	CTCF	chr2:53942820-53942970	AG09319	gingival:	n/a	chr2:53942896-53942917 chr2:53942902-53942918 chr2:53942908-53942915 chr2:53942901-53942919

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:53898063-53898113	HepG2	liver:	n/a
2	chr2:53898063-53898113	T-47D	breast:	n/a
3	chr2:53898063-53898113	AG04450	lung:	fetal
4	chr2:53898063-53898113	HEK293	kidney:	embryo
5	chr2:53898063-53898113	AG10803	skin:	n/a
6	chr2:53898063-53898113	H1-hESC	embryonic stem cell:	embryo
7	chr2:53898063-53898113	HMEC	breast:	n/a
8	chr2:53898063-53898113	NH-A	brain:	n/a
9	chr2:53898063-53898113	NB4	blood:	n/a
10	chr2:53898063-53898113	PFSK-1	brain:	n/a
11	chr2:53898063-53898113	AoSMC	blood vessel:	n/a
12	chr2:53898063-53898113	U87	brain:	n/a
13	chr2:53898063-53898113	HRCEpiC	kidney:	n/a
14	chr2:53898063-53898113	GM12892	blood:	n/a
15	chr2:53898063-53898113	HL-60	blood:	n/a
16	chr2:53898063-53898113	HCPEpiC	choroid plexus:	n/a
17	chr2:53898063-53898113	HRPEpiC	eye:	n/a
18	chr2:53898063-53898113	IMR90	lung:	fetal
19	chr2:53898063-53898113	BJ	skin:	n/a
20	chr2:53898063-53898113	BE2_C	brain:	n/a
21	chr2:53898063-53898113	NT2-D1	testis:	n/a
22	chr2:53898063-53898113	PANC-1	pancreas:	n/a
23	chr2:53898063-53898113	Jurkat	blood:	n/a
24	chr2:53898063-53898113	Caco-2	colon:	n/a
25	chr2:53898063-53898113	SAEC	small airway:	n/a
26	chr2:53898063-53898113	SKMC	muscle:	n/a
27	chr2:53898063-53898113	HIPEpiC	eye:	n/a
28	chr2:53898063-53898113	NHBE	bronchial:	n/a
29	chr2:53898063-53898113	HRE	kidney:	n/a
30	chr2:53898063-53898113	GM06990	blood:	n/a
31	chr2:53898063-53898113	AG09319	gingival:	n/a
32	chr2:53898063-53898113	ovcar-3	ovarian:	n/a
33	chr2:53898063-53898113	HCM	heart:	n/a
34	chr2:53898063-53898113	HCT-116	colon:	n/a
35	chr2:53898063-53898113	MCF10A-Er-Src	breast:	n/a
36	chr2:53898063-53898113	HEEpiC	esophagus:	n/a
37	chr2:53898063-53898113	AG09309	skin:	n/a
38	chr2:53898063-53898113	Hela-S3	cervix:	n/a
39	chr2:53898063-53898113	HPAEpiC	pulmonary alveolar:	n/a
40	chr2:53898063-53898113	HAEpiC	amniotic membrane:	n/a
41	chr2:53898063-53898113	LNCaP	prostate:	n/a
42	chr2:53898063-53898113	MCF-7	breast:	n/a
43	chr2:53898063-53898113	GM19239	blood:	n/a
44	chr2:53898063-53898113	SK-N-SH_RA	brain:	n/a
45	chr2:53898063-53898113	HUVEC	blood vessel:	n/a
46	chr2:53898063-53898113	CMK	blood:	n/a
47	chr2:53898063-53898113	ECC-1	luminal epithelium:	n/a
48	chr2:53898063-53898113	AG04449	skin:	fetal
49	chr2:53898063-53898113	NHDF-neo	bronchial:	n/a
50	chr2:53898063-53898113	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:53938900..53941731-chr2:54013134..54015288,2	K562	blood:
2	chr2:53926842..53929678-chr2:54004293..54006164,2	K562	blood:
3	chr2:53887538..53889702-chr2:53894811..53897627,2	K562	blood:
4	chr2:53926965..53929338-chr2:53930911..53933227,2	K562	blood:
5	chr2:53901787..53904265-chr2:53994019..53996587,2	K562	blood:
6	chr2:53687389..53688064-chr2:53942616..53943230,2	MCF-7	breast:
7	chr2:53894424..53897447-chr2:53898122..53902216,4	K562	blood:
8	chr2:53925981..53927589-chr2:53940700..53943084,2	K562	blood:
9	chr2:53926965..53929338-chr2:53930911..53933227,2	K562	blood:
10	chr2:53920239..53922188-chr2:53922712..53925505,2	K562	blood:
11	chr1:11967940..11968599-chr2:53945834..53946359,2	MCF-7	breast:
12	chr2:53927372..53929338-chr2:53931727..53933877,2	K562	blood:
13	chr2:53669933..53670563-chr2:53942920..53943446,2	MCF-7	breast:
14	chr2:53931144..53933214-chr2:53937294..53940246,2	K562	blood:
15	chr1:11967949..11968659-chr2:53945359..53946359,5	MCF-7	breast:
16	chr17:70758626..70759130-chr2:53924202..53924904,2	MCF-7	breast:
17	chr1:11966927..11968808-chr2:53945839..53947359,4	MCF-7	breast:
18	chr2:53894424..53897447-chr2:53898122..53902216,4	K562	blood:
19	chr2:53931144..53933214-chr2:53937294..53940246,2	K562	blood:
20	chr2:53927372..53929338-chr2:53931727..53933877,2	K562	blood:
21	chr2:53925981..53927589-chr2:53940700..53943084,2	K562	blood:
22	chr1:11966902..11969473-chr2:53944359..53947359,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAC2-5	chr2:53927406-53927679	NONHSAT070694
2	lnc-CHAC2-5	chr2:53941521-53941719	NONHSAT070694

Variant related genes	Relation type
GPR75-ASB3	TF binding region
GPR75-ASB3	CpG island
ENSG00000068912	chromatin interactions
ENSG00000143942	chromatin interactions
ENSG00000115239	chromatin interactions
ENSG00000199347	chromatin interactions

Extended variants
information (count: 2309 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2309 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs994484	chr2:53896767-53896768	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570764607	chr2:53896804-53896805	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576245383	chr2:53896833-53896834	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539912114	chr2:53896836-53896837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146728108	chr2:53896849-53896850	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376273149	chr2:53896853-53896854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs60725156	chr2:53896923-53896924	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572182609	chr2:53896925-53896926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189098492	chr2:53896965-53896966	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545108114	chr2:53896969-53896970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554357975	chr2:53896970-53896971	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564901588	chr2:53896985-53896986	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574362062	chr2:53897012-53897013	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143350371	chr2:53897032-53897033	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148000320	chr2:53897034-53897035	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532052237	chr2:53897062-53897063	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533812980	chr2:53897086-53897087	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368476401	chr2:53897088-53897089	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573152491	chr2:53897089-53897090	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202169792	chr2:53897108-53897109	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545881876	chr2:53897129-53897130	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559213621	chr2:53897184-53897185	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34897673	chr2:53897186-53897187	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192831287	chr2:53897241-53897242	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80029529	chr2:53897251-53897252	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565423658	chr2:53897267-53897268	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568670841	chr2:53897285-53897286	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531187005	chr2:53897300-53897301	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551334659	chr2:53897338-53897339	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561032563	chr2:53897343-53897344	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570820193	chr2:53897350-53897351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140766292	chr2:53897372-53897373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553415096	chr2:53897415-53897416	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79450165	chr2:53897428-53897429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566817106	chr2:53897429-53897430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10197814	chr2:53897458-53897459	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535575529	chr2:53897478-53897479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554298291	chr2:53897499-53897500	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3930	chr2:53897525-53897526	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs114648658	chr2:53897536-53897537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556884882	chr2:53897539-53897540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77080568	chr2:53897568-53897569	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545518381	chr2:53897571-53897572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549614196	chr2:53897584-53897585	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559318926	chr2:53897591-53897592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528124970	chr2:53897593-53897594	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7569180	chr2:53897603-53897604	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7569182	chr2:53897605-53897606	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372882774	chr2:53897646-53897647	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200815358	chr2:53897652-53897653	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1059 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53874200-53935000	Weak transcription	Pancreas	Pancrea
2	chr2:53881400-53934400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:53883200-53897800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:53885600-53925000	Weak transcription	Fetal Intestine Small	intestine
5	chr2:53885800-53911800	Weak transcription	Adipose Nuclei	Adipose
6	chr2:53887000-53898000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:53887800-53899800	Weak transcription	Primary B cells from cord blood	blood
8	chr2:53888200-53934200	Weak transcription	Lung	lung
9	chr2:53888400-53935200	Weak transcription	Fetal Brain Male	brain
10	chr2:53888600-53897200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:53888600-53935200	Weak transcription	Hela-S3	cervix
12	chr2:53889000-53935800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:53889400-53896800	Weak transcription	Fetal Lung	lung
14	chr2:53891600-53900000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:53892600-53902600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:53892600-53918800	Weak transcription	Left Ventricle	heart
17	chr2:53893400-53915200	Weak transcription	Ovary	ovary
18	chr2:53893800-53926800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:53894200-53920800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:53894400-53900400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:53894400-53912200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:53894400-53914400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:53894400-53925000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:53894400-53933800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:53894600-53900000	Weak transcription	Stomach Mucosa	stomach
26	chr2:53894600-53911200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:53894800-53900000	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:53895000-53900200	Weak transcription	Brain Substantia Nigra	brain
29	chr2:53895000-53911800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:53895200-53898000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:53895400-53897000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:53895400-53898600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:53895400-53919000	Weak transcription	Fetal Intestine Large	intestine
34	chr2:53895400-53921200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:53895400-53925800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:53895400-53926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:53895600-53897000	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:53895600-53897400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:53895600-53914800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:53895600-53921400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:53895800-53896800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:53895800-53897000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:53895800-53897000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:53895800-53897400	Strong transcription	Primary hematopoietic stem cells	blood
45	chr2:53895800-53897600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:53895800-53897600	Strong transcription	Dnd41	blood
47	chr2:53895800-53897800	Strong transcription	Fetal Thymus	thymus
48	chr2:53895800-53916800	Weak transcription	Brain Anterior Caudate	brain
49	chr2:53895800-53926200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:53896000-53896800	Strong transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

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