Variant report

Variant	nsv875412
Chromosome Location	chr2:172903124-172942448
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:363)
CpG islands
(count:183)
Chromatin interactive
region (count:87)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:172927551-172927788	K562	blood:	n/a	n/a
2	ARID3A	chr2:172913048-172913814	K562	blood:	n/a	n/a
3	ARID3A	chr2:172914584-172914892	K562	blood:	n/a	n/a
4	ARID3A	chr2:172916809-172917967	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:172910679-172911423	K562	blood:	n/a	n/a
6	ARID3A	chr2:172930937-172931511	K562	blood:	n/a	n/a
7	ATF1	chr2:172942120-172942310	K562	blood:	n/a	n/a
8	ATF1	chr2:172931142-172931636	K562	blood:	n/a	n/a
9	ATF1	chr2:172910780-172911229	K562	blood:	n/a	n/a
10	BHLHE40	chr2:172931213-172931412	K562	blood:	n/a	n/a
11	BHLHE40	chr2:172927314-172927514	K562	blood:	n/a	n/a
12	CBX3	chr2:172907233-172907845	K562	blood:	n/a	n/a
13	CCNT2	chr2:172913522-172913723	K562	blood:	n/a	chr2:172913636-172913656
14	CEBPB	chr2:172913362-172913790	K562	blood:	n/a	n/a
15	CEBPB	chr2:172931260-172931469	K562	blood:	n/a	n/a
16	CEBPB	chr2:172937231-172937353	HepG2	liver:	n/a	chr2:172937284-172937297 chr2:172937285-172937296 chr2:172937284-172937295 chr2:172937286-172937295
17	CEBPB	chr2:172937159-172937398	K562	blood:	n/a	chr2:172937284-172937297 chr2:172937285-172937296 chr2:172937284-172937295 chr2:172937286-172937295
18	CEBPB	chr2:172916873-172917380	HepG2	liver:	n/a	chr2:172917182-172917193
19	CEBPB	chr2:172929893-172930184	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr2:172914714-172914984	K562	blood:	n/a	n/a
21	CEBPB	chr2:172903521-172904039	MCF-7	breast:	n/a	n/a
22	CEBPB	chr2:172911292-172911527	HepG2	liver:	n/a	chr2:172911430-172911441
23	CEBPB	chr2:172916936-172918017	HepG2	liver:	n/a	chr2:172917596-172917607 chr2:172917182-172917193
24	CEBPB	chr2:172935647-172935880	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr2:172917018-172917751	HepG2	liver:	n/a	chr2:172917596-172917607 chr2:172917182-172917193
26	CEBPB	chr2:172916989-172917366	MCF-7	breast:	n/a	chr2:172917182-172917193
27	CEBPB	chr2:172917020-172917349	HepG2	liver:	n/a	chr2:172917182-172917193
28	CEBPB	chr2:172921034-172921265	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:172910667-172911249	K562	blood:	n/a	chr2:172911169-172911182
30	CEBPB	chr2:172910718-172911456	K562	blood:	n/a	chr2:172911430-172911441 chr2:172911169-172911182
31	CEBPB	chr2:172935441-172935848	K562	blood:	n/a	n/a
32	CEBPB	chr2:172921011-172921248	K562	blood:	n/a	n/a
33	CEBPB	chr2:172910759-172911065	K562	blood:	n/a	n/a
34	CEBPB	chr2:172903528-172904148	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr2:172921030-172921251	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr2:172917050-172917285	MCF-7	breast:	n/a	chr2:172917182-172917193
37	CEBPB	chr2:172903449-172904076	MCF-7	breast:	n/a	n/a
38	CEBPB	chr2:172913538-172913774	K562	blood:	n/a	n/a
39	CEBPB	chr2:172910775-172911066	Hela-S3	cervix:	n/a	n/a
40	CEBPD	chr2:172913381-172913889	K562	blood:	n/a	n/a
41	CEBPD	chr2:172917073-172917350	HepG2	liver:	n/a	n/a
42	CEBPD	chr2:172913379-172913898	K562	blood:	n/a	n/a
43	CHD2	chr2:172931496-172931656	K562	blood:	n/a	n/a
44	CTCF	chr2:172927595-172927759	K562	blood:	n/a	n/a
45	CTCF	chr2:172939460-172939610	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr2:172924111-172924220	MCF-7	breast:	n/a	n/a
47	CTCF	chr2:172924020-172924170	NHEK	skin:	n/a	n/a
48	CTCF	chr2:172931228-172931613	K562	blood:	n/a	n/a
49	CTCF	chr2:172924060-172924210	HepG2	liver:	n/a	n/a
50	CTCF	chr2:172913520-172913670	Caco-2	colon:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:172941943-172941993	GM12891	blood:	n/a
2	chr2:172941943-172941993	HIPEpiC	eye:	n/a
3	chr2:172912454-172912504	SAEC	small airway:	n/a
4	chr2:172912454-172912504	AG04450	lung:	fetal
5	chr2:172912454-172912504	HEEpiC	esophagus:	n/a
6	chr2:172912454-172912504	HL-60	blood:	n/a
7	chr2:172941943-172941993	GM06990	blood:	n/a
8	chr2:172916330-172916380	HIPEpiC	eye:	n/a
9	chr2:172916330-172916380	AG04450	lung:	fetal
10	chr2:172916330-172916380	HAEpiC	amniotic membrane:	n/a
11	chr2:172912454-172912504	RPTEC	kidney:	n/a
12	chr2:172916330-172916380	HCM	heart:	n/a
13	chr2:172912454-172912504	NHBE	bronchial:	n/a
14	chr2:172916330-172916380	PFSK-1	brain:	n/a
15	chr2:172912454-172912504	AG09319	gingival:	n/a
16	chr2:172912454-172912504	HCF	heart:	n/a
17	chr2:172916330-172916380	LNCaP	prostate:	n/a
18	chr2:172912454-172912504	H1-hESC	embryonic stem cell:	embryo
19	chr2:172941943-172941993	Hepatocyte	liver:	n/a
20	chr2:172941943-172941993	PFSK-1	brain:	n/a
21	chr2:172916330-172916380	Caco-2	colon:	n/a
22	chr2:172912454-172912504	GM19239	blood:	n/a
23	chr2:172916330-172916380	U87	brain:	n/a
24	chr2:172912454-172912504	AoSMC	blood vessel:	n/a
25	chr2:172941943-172941993	GM19239	blood:	n/a
26	chr2:172941943-172941993	RPTEC	kidney:	n/a
27	chr2:172916330-172916380	HRPEpiC	eye:	n/a
28	chr2:172912454-172912504	HAEpiC	amniotic membrane:	n/a
29	chr2:172941943-172941993	GM12878	blood:	n/a
30	chr2:172912454-172912504	NB4	blood:	n/a
31	chr2:172912454-172912504	A549	lung:	n/a
32	chr2:172941943-172941993	U87	brain:	n/a
33	chr2:172941943-172941993	NHBE	bronchial:	n/a
34	chr2:172941943-172941993	HCPEpiC	choroid plexus:	n/a
35	chr2:172941943-172941993	HRCEpiC	kidney:	n/a
36	chr2:172916330-172916380	SK-N-SH	brain:	n/a
37	chr2:172941943-172941993	AG04450	lung:	fetal
38	chr2:172941943-172941993	AG09319	gingival:	n/a
39	chr2:172916330-172916380	ECC-1	luminal epithelium:	n/a
40	chr2:172912454-172912504	SK-N-MC	brain:	n/a
41	chr2:172912454-172912504	GM12891	blood:	n/a
42	chr2:172912454-172912504	ECC-1	luminal epithelium:	n/a
43	chr2:172912454-172912504	HRPEpiC	eye:	n/a
44	chr2:172941943-172941993	AG04449	skin:	fetal
45	chr2:172912454-172912504	NHDF-neo	bronchial:	n/a
46	chr2:172912454-172912504	HPAEpiC	pulmonary alveolar:	n/a
47	chr2:172941943-172941993	BJ	skin:	n/a
48	chr2:172912454-172912504	K562	blood:	n/a
49	chr2:172916330-172916380	SAEC	small airway:	n/a
50	chr2:172941943-172941993	IMR90	lung:	fetal

(count:87 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:172910524..172912386-chr2:172915560..172917116,2	K562	blood:
2	chr2:172923489..172925905-chr2:172947615..172951148,4	MCF-7	breast:
3	chr2:172900609..172903455-chr2:172958625..172961122,3	MCF-7	breast:
4	chr2:172863381..172865132-chr2:172924958..172927915,2	MCF-7	breast:
5	chr2:172901732..172906441-chr2:172911766..172917938,8	K562	blood:
6	chr2:172895941..172897535-chr2:172913713..172916052,2	K562	blood:
7	chr2:172903562..172906519-chr2:172947983..172949880,2	K562	blood:
8	chr2:172903155..172905695-chr2:172921268..172923071,2	K562	blood:
9	chr2:172930135..172933791-chr2:172934281..172936934,5	K562	blood:
10	chr2:172903508..172905484-chr2:172912161..172915678,3	MCF-7	breast:
11	chr2:172805225..172806853-chr2:172911394..172913520,2	K562	blood:
12	chr2:172900542..172905634-chr2:172946761..172951890,10	MCF-7	breast:
13	chr2:172903935..172905643-chr2:172934942..172937161,2	MCF-7	breast:
14	chr2:172904144..172906423-chr2:172922589..172924377,2	MCF-7	breast:
15	chr2:172903155..172905695-chr2:172921268..172923071,2	K562	blood:
16	chr2:172916809..172918657-chr2:172945564..172947082,2	MCF-7	breast:
17	chr2:172901921..172905424-chr2:172916575..172920187,5	MCF-7	breast:
18	chr2:171785524..171787845-chr2:172913575..172916118,2	K562	blood:
19	chr2:172901921..172905424-chr2:172916575..172920187,5	MCF-7	breast:
20	chr2:172932839..172934558-chr2:172941489..172943164,2	MCF-7	breast:
21	chr2:172914458..172918465-chr2:172959410..172965426,7	MCF-7	breast:
22	chr2:172915456..172917874-chr2:172919849..172921461,2	MCF-7	breast:
23	chr2:172866585..172869561-chr2:172917120..172919427,2	K562	blood:
24	chr2:172908370..172912601-chr2:172912982..172915334,3	K562	blood:
25	chr2:172928306..172931524-chr2:172948301..172950748,4	MCF-7	breast:
26	chr2:172919420..172922156-chr2:172937386..172939240,3	MCF-7	breast:
27	chr2:172885814..172888656-chr2:172921876..172924424,2	K562	blood:
28	chr2:172903508..172905484-chr2:172912161..172915678,3	MCF-7	breast:
29	chr2:172932839..172934558-chr2:172941489..172943164,2	MCF-7	breast:
30	chr2:172909379..172916271-chr2:172947539..172952263,13	K562	blood:
31	chr2:172905200..172906777-chr2:172909127..172910851,3	K562	blood:
32	chr2:172923032..172925626-chr2:172949094..172951045,3	MCF-7	breast:
33	chr2:172361064..172363062-chr2:172920609..172922964,2	K562	blood:
34	chr2:172919420..172922156-chr2:172937386..172939240,3	MCF-7	breast:
35	chr2:172894190..172896473-chr2:172910929..172913288,2	K562	blood:
36	chr2:172911399..172913242-chr2:172927772..172930159,2	K562	blood:
37	chr2:172904276..172906441-chr2:172912588..172915159,2	K562	blood:
38	chr2:172921135..172923645-chr2:172924728..172927557,3	K562	blood:
39	chr2:172915456..172917874-chr2:172919849..172921461,2	MCF-7	breast:
40	chr2:172901732..172906441-chr2:172911766..172917938,8	K562	blood:
41	chr2:172932690..172934574-chr2:172937867..172940609,2	MCF-7	breast:
42	chr2:172897690..172899268-chr2:172922598..172924829,2	MCF-7	breast:
43	chr2:172915810..172921925-chr2:172947139..172950933,8	MCF-7	breast:
44	chr2:172911212..172913559-chr2:172957702..172960003,2	MCF-7	breast:
45	chr2:172916439..172918437-chr2:172924109..172926008,2	K562	blood:
46	chr2:172872127..172874571-chr2:172915848..172917626,2	MCF-7	breast:
47	chr2:172930135..172933791-chr2:172934281..172936934,5	K562	blood:
48	chr2:172915830..172918019-chr2:172965851..172967372,2	MCF-7	breast:
49	chr2:172929662..172931943-chr2:172933111..172935492,3	MCF-7	breast:
50	chr2:172915629..172918406-chr2:172934350..172936344,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METAP1D-2	chr2:172940745-172940864	l_1987_chr2:172825346-172897114_testes
2	lnc-HAT1-1	chr2:172928439-172928478	NONHSAT075486
3	lnc-HAT1-1	chr2:172926226-172926383	NONHSAT075486
4	lnc-HAT1-1	chr2:172926226-172926722	NONHSAT075485
5	lnc-HAT1-1	chr2:172926226-172926383	NONHSAT075484
6	lnc-HAT1-1	chr2:172928439-172929142	NONHSAT075484

No data

Variant related genes	Relation type
METAP1D	TF binding region
METAP1D	CpG island
ENSG00000115806	chromatin interactions
ENSG00000115840	chromatin interactions
ENSG00000172878	chromatin interactions
ENSG00000144355	chromatin interactions
TSPAN9	miRNA target sites

Extended variants
information (count: 1400 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:1400 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13403822	chr2:172903124-172903125	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111501636	chr2:172903163-172903164	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs538692062	chr2:172903174-172903175	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs74411903	chr2:172903237-172903238	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs115223236	chr2:172903238-172903239	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs542567052	chr2:172903268-172903269	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs561227235	chr2:172903368-172903369	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs573122380	chr2:172903398-172903399	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs192940739	chr2:172903421-172903422	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs371298686	chr2:172903533-172903534	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs145362046	chr2:172903658-172903659	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs536641367	chr2:172903706-172903707	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs556642730	chr2:172903707-172903708	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs147656619	chr2:172903710-172903711	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs145045552	chr2:172903785-172903786	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs74389179	chr2:172903847-172903848	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs538551057	chr2:172903880-172903881	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562746292	chr2:172903994-172903995	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs76104672	chr2:172904031-172904032	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs539143565	chr2:172904085-172904086	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs548645489	chr2:172904128-172904129	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs566799361	chr2:172904137-172904138	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs116434274	chr2:172904235-172904236	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs77269059	chr2:172904250-172904251	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs185055308	chr2:172904285-172904286	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs538357850	chr2:172904311-172904312	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs142435004	chr2:172904353-172904354	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs142336514	chr2:172904389-172904390	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs35867222	chr2:172904398-172904399	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs536242621	chr2:172904420-172904421	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs9973784	chr2:172904468-172904469	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs62183819	chr2:172904520-172904521	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs190151915	chr2:172904547-172904548	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs386391846	chr2:172904578-172904579	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs587639606	chr2:172904585-172904586	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs368691331	chr2:172904586-172904587	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs375071237	chr2:172904594-172904595	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs9973494	chr2:172904659-172904660	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544391787	chr2:172904661-172904662	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs368329012	chr2:172904662-172904663	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs562993267	chr2:172904719-172904720	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs1965160	chr2:172904758-172904759	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs181858623	chr2:172904770-172904771	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs560079041	chr2:172904819-172904820	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs527999749	chr2:172904821-172904822	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs113897310	chr2:172904830-172904831	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs570719670	chr2:172904863-172904864	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs72892859	chr2:172904889-172904890	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs550451028	chr2:172904890-172904891	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs568913599	chr2:172904924-172904925	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172901200-172907400	Weak transcription	Fetal Kidney	kidney
2	chr2:172901600-172903600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:172902000-172903800	Enhancers	K562	blood
4	chr2:172902400-172903400	Enhancers	Hela-S3	cervix
5	chr2:172902400-172904600	Enhancers	Osteobl	bone
6	chr2:172902600-172904400	Enhancers	NHDF-Ad	bronchial
7	chr2:172902600-172904600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:172902600-172904600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:172902600-172904600	Enhancers	NHEK	skin
10	chr2:172902800-172903800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:172902800-172904400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:172902800-172904600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:172903000-172904400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:172903000-172904600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:172903200-172904400	Enhancers	HMEC	breast
16	chr2:172903400-172903600	Flanking Active TSS	Hela-S3	cervix
17	chr2:172903400-172904000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:172903600-172904000	Enhancers	Hela-S3	cervix
19	chr2:172903600-172904400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:172904000-172904200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:172904000-172904400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:172904000-172904400	Flanking Active TSS	Hela-S3	cervix
23	chr2:172904400-172904600	Enhancers	Hela-S3	cervix
24	chr2:172907400-172907800	ZNF genes & repeats	Fetal Kidney	kidney
25	chr2:172907800-172916000	Weak transcription	Fetal Kidney	kidney
26	chr2:172910600-172911000	Enhancers	Primary T cells from cord blood	blood
27	chr2:172910600-172911000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:172910600-172911400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:172910600-172911400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:172910600-172911400	Enhancers	Dnd41	blood
31	chr2:172910800-172911200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr2:172910800-172911200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:172910800-172911200	Enhancers	HSMM	muscle
34	chr2:172910800-172911400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:172910800-172911400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr2:172910800-172911400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:172910800-172911400	Enhancers	K562	blood
38	chr2:172911000-172912200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:172911000-172930000	Weak transcription	Primary T cells from cord blood	blood
40	chr2:172911200-172912800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:172911200-172915600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:172911200-172947200	Weak transcription	HSMM	muscle
43	chr2:172911400-172911800	Weak transcription	K562	blood
44	chr2:172911400-172914400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:172911400-172915200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:172911400-172916400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:172911400-172916600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:172911400-172916800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:172911600-172912200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:172911600-172913400	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links