Variant report

Variant	nsv874153
Chromosome Location	chr2:55042463-55073428
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	chr2:55049592-55049691	HepG2	liver:	n/a	n/a
2	ATF1	chr2:55054749-55054907	K562	blood:	n/a	n/a
3	ATF2	chr2:55072521-55073040	GM12878	blood:	n/a	n/a
4	BHLHE40	chr2:55065788-55065975	K562	blood:	n/a	n/a
5	BHLHE40	chr2:55072300-55072540	GM12878	blood:	n/a	n/a
6	BRCA1	chr2:55065770-55066009	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr2:55065777-55066064	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr2:55072268-55073116	GM12878	blood:	n/a	chr2:55072783-55072796
9	CEBPB	chr2:55049563-55049783	HepG2	liver:	n/a	n/a
10	CEBPB	chr2:55049589-55049746	K562	blood:	n/a	n/a
11	CHD2	chr2:55065761-55066026	GM12878	blood:	n/a	n/a
12	CREB1	chr2:55072615-55073013	GM12878	blood:	n/a	n/a
13	CREB1	chr2:55072505-55073124	GM12878	blood:	n/a	n/a
14	CTCF	chr2:55065820-55065970	HUVEC	blood vessel:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
15	CTCF	chr2:55065820-55065970	WI-38	lung:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
16	CTCF	chr2:55065780-55065930	GM12866	blood:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
17	CTCF	chr2:55065800-55065950	AG09309	skin:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
18	CTCF	chr2:55065666-55066273	K562	blood:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
19	CTCF	chr2:55065621-55066067	A549	lung:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
20	CTCF	chr2:55065760-55065910	HCT-116	colon:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
21	CTCF	chr2:55065800-55065950	HRPEpiC	eye:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
22	CTCF	chr2:55066460-55066610	GM12865	blood:	n/a	n/a
23	CTCF	chr2:55066120-55066270	GM12864	blood:	n/a	n/a
24	CTCF	chr2:55065820-55065970	GM12872	blood:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
25	CTCF	chr2:55066158-55066244	GM12878	blood:	n/a	n/a
26	CTCF	chr2:55065840-55065990	GM12801	blood:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
27	CTCF	chr2:55065780-55065930	HAc	cerebellar:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
28	CTCF	chr2:55065646-55065977	K562	blood:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
29	CTCF	chr2:55066580-55066730	AG04450	lung:	n/a	n/a
30	CTCF	chr2:55065751-55066038	GM19238	blood:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
31	CTCF	chr2:55065711-55066026	Lung_OC	lung:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
32	CTCF	chr2:55065720-55065941	A549	lung:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
33	CTCF	chr2:55065940-55066090	HAc	cerebellar:	n/a	n/a
34	CTCF	chr2:55065727-55065988	HepG2	liver:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
35	CTCF	chr2:55065475-55066106	HCT-116	colon:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
36	CTCF	chr2:55066520-55066670	HPF	lung:	n/a	n/a
37	CTCF	chr2:55065658-55066101	GM12878	blood:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
38	CTCF	chr2:55065820-55065970	AoAF	blood vessel:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
39	CTCF	chr2:55065800-55065950	GM12868	blood:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
40	CTCF	chr2:55065820-55065970	Hela-S3	cervix:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
41	CTCF	chr2:55065760-55065910	HCM	heart:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
42	CTCF	chr2:55065160-55065310	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr2:55065840-55065990	WI-38	lung:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
44	CTCF	chr2:55065739-55066032	A549	lung:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
45	CTCF	chr2:55065620-55066162	MCF-7	breast:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
46	CTCF	chr2:55065780-55065930	AG10803	skin:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
47	CTCF	chr2:55066740-55066890	AG10803	skin:	n/a	n/a
48	CTCF	chr2:55065780-55066017	MCF-7	breast:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
49	CTCF	chr2:55065820-55065970	NHDF-neo	bronchial:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884
50	CTCF	chr2:55065780-55065930	HPAF	blood vessel:	n/a	chr2:55065864-55065885 chr2:55065869-55065887 chr2:55065870-55065886 chr2:55065871-55065884

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:55047815-55047865	AG10803	skin:	n/a
2	chr2:55047815-55047865	HL-60	blood:	n/a
3	chr2:55047815-55047865	NHDF-neo	bronchial:	n/a
4	chr2:55047815-55047865	MCF-7	breast:	n/a
5	chr2:55047815-55047865	GM06990	blood:	n/a
6	chr2:55047815-55047865	HIPEpiC	eye:	n/a
7	chr2:55047815-55047865	HRCEpiC	kidney:	n/a
8	chr2:55047815-55047865	HPAEpiC	pulmonary alveolar:	n/a
9	chr2:55047815-55047865	Hela-S3	cervix:	n/a
10	chr2:55047815-55047865	U87	brain:	n/a
11	chr2:55047815-55047865	AG04450	lung:	fetal
12	chr2:55047815-55047865	SAEC	small airway:	n/a
13	chr2:55047815-55047865	T-47D	breast:	n/a
14	chr2:55047815-55047865	PANC-1	pancreas:	n/a
15	chr2:55047815-55047865	BE2_C	brain:	n/a
16	chr2:55047815-55047865	HCPEpiC	choroid plexus:	n/a
17	chr2:55047815-55047865	HEK293	kidney:	embryo
18	chr2:55047815-55047865	H1-hESC	embryonic stem cell:	embryo
19	chr2:55047815-55047865	HUVEC	blood vessel:	n/a
20	chr2:55047815-55047865	HAEpiC	amniotic membrane:	n/a
21	chr2:55047815-55047865	AoSMC	blood vessel:	n/a
22	chr2:55047815-55047865	HNPCEpiC	eye:	n/a
23	chr2:55047815-55047865	AG09309	skin:	n/a
24	chr2:55047815-55047865	Caco-2	colon:	n/a
25	chr2:55047815-55047865	IMR90	lung:	fetal
26	chr2:55047815-55047865	HCF	heart:	n/a
27	chr2:55047815-55047865	SK-N-MC	brain:	n/a
28	chr2:55047815-55047865	HMEC	breast:	n/a
29	chr2:55047815-55047865	AG04449	skin:	fetal
30	chr2:55047815-55047865	BJ	skin:	n/a
31	chr2:55047815-55047865	GM12891	blood:	n/a
32	chr2:55047815-55047865	NB4	blood:	n/a
33	chr2:55047815-55047865	GM19239	blood:	n/a
34	chr2:55047815-55047865	HCT-116	colon:	n/a
35	chr2:55047815-55047865	SKMC	muscle:	n/a
36	chr2:55047815-55047865	AG09319	gingival:	n/a
37	chr2:55047815-55047865	RPTEC	kidney:	n/a
38	chr2:55047815-55047865	Jurkat	blood:	n/a
39	chr2:55047815-55047865	HCM	heart:	n/a
40	chr2:55047815-55047865	GM12892	blood:	n/a
41	chr2:55047815-55047865	SK-N-SH_RA	brain:	n/a
42	chr2:55047815-55047865	PFSK-1	brain:	n/a
43	chr2:55047815-55047865	NHBE	bronchial:	n/a
44	chr2:55047815-55047865	HRPEpiC	eye:	n/a
45	chr2:55047815-55047865	PrEC	prostate:	n/a
46	chr2:55047815-55047865	ProgFib	skin:	n/a
47	chr2:55047815-55047865	GM12878	blood:	n/a
48	chr2:55047815-55047865	ECC-1	luminal epithelium:	n/a
49	chr2:55047815-55047865	NH-A	brain:	n/a
50	chr2:55047815-55047865	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:54990527..54991452-chr2:55065478..55066629,7	MCF-7	breast:
2	chr2:54749602..54750431-chr2:55065446..55066330,2	K562	blood:
3	chr2:55058953..55061884-chr2:55063493..55065215,2	K562	blood:
4	chr2:55043075..55045749-chr2:55057343..55058927,2	K562	blood:
5	chr2:55042975..55046110-chr2:55047288..55049985,3	K562	blood:
6	chr2:55043075..55045749-chr2:55057343..55058927,2	K562	blood:
7	chr2:55051760..55053947-chr2:55063196..55065513,2	K562	blood:
8	chr2:54982346..54983733-chr2:55065232..55066304,6	MCF-7	breast:
9	chr2:54956388..54959275-chr2:55046945..55049769,2	MCF-7	breast:
10	chr2:55066064..55068907-chr2:55070022..55073567,3	K562	blood:
11	chr2:55050860..55053564-chr2:55056333..55059728,3	K562	blood:
12	chr2:54990315..54991347-chr2:55065566..55066286,4	MCF-7	breast:
13	chr2:54075898..54077445-chr2:55058501..55060039,2	K562	blood:
14	chr2:54950232..54951150-chr2:55065622..55066622,2	MCF-7	breast:
15	chr2:55042975..55046110-chr2:55047288..55049985,3	K562	blood:
16	chr2:55050860..55053481-chr2:55056910..55059728,4	K562	blood:
17	chr2:55066064..55068907-chr2:55070022..55073567,3	K562	blood:
18	chr2:55058953..55061884-chr2:55063493..55065215,2	K562	blood:
19	chr2:54892587..54893215-chr2:55065584..55066311,2	MCF-7	breast:
20	chr2:55060398..55062114-chr2:55063978..55066536,2	MCF-7	breast:
21	chr2:55066064..55068239-chr2:55070022..55072910,2	K562	blood:
22	chr2:55043190..55047083-chr2:55047288..55051839,4	K562	blood:
23	chr2:55070043..55071557-chr2:55073869..55075747,2	K562	blood:
24	chr2:55051760..55053947-chr2:55063196..55065513,2	K562	blood:
25	chr2:55065842..55066397-chr2:55402066..55403010,2	MCF-7	breast:
26	chr17:59492061..59493575-chr2:55052880..55054380,2	MCF-7	breast:
27	chr2:55060398..55062114-chr2:55063978..55066536,2	MCF-7	breast:
28	chr2:55054994..55056963-chr2:55058842..55061555,2	K562	blood:
29	chr2:54990391..54992574-chr2:55063841..55065808,2	MCF-7	breast:
30	chr2:55050860..55053481-chr2:55056910..55059728,4	K562	blood:
31	chr2:55054994..55056963-chr2:55058842..55061555,2	K562	blood:
32	chr2:55066064..55068239-chr2:55070022..55072910,2	K562	blood:
33	chr2:55050860..55053564-chr2:55056333..55059728,3	K562	blood:
34	chr2:55043190..55047083-chr2:55047288..55051839,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RTN4-4	chr2:55057725-55058202	expReg_chr2_4079_-

Variant related genes	Relation type
RNU7-81P	TF binding region
RNU7-81P	CpG island
ENSG00000265452	chromatin interactions
ENSG00000214595	chromatin interactions

Extended variants
information (count: 1646 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1646 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2567839	chr2:55042463-55042464	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562308439	chr2:55042470-55042471	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs2567969	chr2:55042477-55042478	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187327288	chr2:55042508-55042509	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs17046384	chr2:55042533-55042534	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571912168	chr2:55042542-55042543	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs148198026	chr2:55042554-55042555	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs113559212	chr2:55042556-55042557	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs552417420	chr2:55042597-55042598	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs536710440	chr2:55042610-55042611	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs545891166	chr2:55042716-55042717	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs565848900	chr2:55042726-55042727	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs112967894	chr2:55042728-55042729	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs78419647	chr2:55042759-55042760	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs191862380	chr2:55042779-55042780	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs557758251	chr2:55042783-55042784	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs577473988	chr2:55042784-55042785	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs184552492	chr2:55042796-55042797	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs574215066	chr2:55042815-55042816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111665932	chr2:55042822-55042823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142610919	chr2:55042837-55042838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73935663	chr2:55042841-55042842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs58937764	chr2:55042842-55042843	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189482925	chr2:55042900-55042901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531200921	chr2:55042905-55042906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544951002	chr2:55042912-55042913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180737446	chr2:55042944-55042945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527961278	chr2:55042956-55042957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548026519	chr2:55042982-55042983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114181863	chr2:55042988-55042989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530242506	chr2:55043013-55043014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550001766	chr2:55043031-55043032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185772517	chr2:55043047-55043048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570072424	chr2:55043084-55043085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538664382	chr2:55043087-55043088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553303656	chr2:55043107-55043108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558865616	chr2:55043108-55043109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189572376	chr2:55043157-55043158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144779708	chr2:55043207-55043208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138844390	chr2:55043389-55043390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573478295	chr2:55043406-55043407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542750311	chr2:55043427-55043428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555996661	chr2:55043435-55043436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576043633	chr2:55043444-55043445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116355334	chr2:55043445-55043446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541768734	chr2:55043456-55043457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142055519	chr2:55043466-55043467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556647469	chr2:55043481-55043482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181876077	chr2:55043499-55043500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577319826	chr2:55043515-55043516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Melanoma	20877625	CNVD
XY gonadal dysgenesis	20685758	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55036600-55047200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:55040600-55043400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:55041000-55042600	Flanking Active TSS	NHEK	skin
4	chr2:55041000-55044000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:55041600-55042600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:55041600-55043200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:55041800-55047400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:55042000-55043200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:55042000-55047400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:55042200-55043000	Enhancers	HMEC	breast
11	chr2:55042400-55042600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:55042400-55042800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:55042400-55043000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:55042600-55044000	Enhancers	NHEK	skin
15	chr2:55042600-55044200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:55042800-55044000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:55045200-55046000	Enhancers	Brain Substantia Nigra	brain
18	chr2:55046400-55065600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:55047000-55048400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:55047200-55048400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:55047400-55047600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:55047400-55048000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:55047400-55048000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:55047400-55048200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:55047400-55048200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:55047400-55048400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:55047600-55048000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr2:55047600-55048000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:55047800-55048200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:55048000-55048400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:55050400-55050600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:55051200-55051400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr2:55052000-55052200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:55053000-55053400	Enhancers	HepG2	liver
35	chr2:55053400-55079000	Weak transcription	HepG2	liver
36	chr2:55053600-55065000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:55053600-55065200	Weak transcription	Brain Angular Gyrus	brain
38	chr2:55054200-55067200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:55054800-55058600	Weak transcription	HSMMtube	muscle
40	chr2:55056200-55062400	Weak transcription	Ovary	ovary
41	chr2:55056600-55057200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr2:55057400-55057600	Enhancers	Brain Substantia Nigra	brain
43	chr2:55057600-55058000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:55057600-55064600	Weak transcription	Brain Substantia Nigra	brain
45	chr2:55057800-55058200	Enhancers	Adipose Nuclei	Adipose
46	chr2:55058000-55061400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:55058200-55063800	Weak transcription	Adipose Nuclei	Adipose
48	chr2:55059400-55059600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:55059400-55060000	Enhancers	Gastric	stomach
50	chr2:55061400-55062200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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