Variant report

Variant	nsv519761
Chromosome Location	chr2:48146122-48248101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:294)
CpG islands
(count:61)
Chromatin interactive
region (count:22)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:48211133-48211601	K562	blood:	n/a	n/a
2	BRCA1	chr2:48225772-48225821	Hela-S3	cervix:	n/a	n/a
3	CCNT2	chr2:48211204-48211675	K562	blood:	n/a	chr2:48211373-48211393
4	CEBPB	chr2:48245751-48245965	HepG2	liver:	n/a	chr2:48245871-48245882
5	CEBPB	chr2:48219070-48219189	HepG2	liver:	n/a	chr2:48219116-48219129 chr2:48219117-48219128
6	CEBPB	chr2:48200529-48200617	HepG2	liver:	n/a	chr2:48200589-48200600
7	CEBPB	chr2:48184302-48184476	A549	lung:	n/a	chr2:48184387-48184398 chr2:48184362-48184373
8	CEBPB	chr2:48245089-48245360	HepG2	liver:	n/a	chr2:48245199-48245210
9	CEBPB	chr2:48173720-48174094	HepG2	liver:	n/a	n/a
10	CEBPB	chr2:48245747-48245969	A549	lung:	n/a	chr2:48245871-48245882
11	CEBPB	chr2:48245783-48245942	K562	blood:	n/a	chr2:48245871-48245882
12	CEBPB	chr2:48184317-48184524	HepG2	liver:	n/a	chr2:48184387-48184398 chr2:48184362-48184373
13	CEBPB	chr2:48232969-48233243	HepG2	liver:	n/a	chr2:48233087-48233098
14	CEBPB	chr2:48180689-48180857	A549	lung:	n/a	n/a
15	CEBPB	chr2:48233001-48233240	A549	lung:	n/a	chr2:48233087-48233098
16	CEBPB	chr2:48155853-48155905	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr2:48214699-48214726	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:48192403-48192432	K562	blood:	n/a	n/a
19	CEBPB	chr2:48155872-48155931	K562	blood:	n/a	n/a
20	CEBPB	chr2:48200550-48200615	K562	blood:	n/a	chr2:48200589-48200600
21	CREB1	chr2:48172222-48172475	A549	lung:	n/a	n/a
22	CTCF	chr2:48243900-48244050	HPF	lung:	n/a	chr2:48243971-48243980
23	CTCF	chr2:48243860-48244010	MCF-7	breast:	n/a	chr2:48243971-48243980
24	CTCF	chr2:48243840-48243990	GM12864	blood:	n/a	chr2:48243971-48243980
25	CTCF	chr2:48243860-48244010	K562	blood:	n/a	chr2:48243971-48243980
26	CTCF	chr2:48243860-48244010	GM12871	blood:	n/a	chr2:48243971-48243980
27	CTCF	chr2:48243880-48244030	HFF-Myc	foreskin:	n/a	chr2:48243971-48243980
28	CTCF	chr2:48244280-48244430	HEK293	kidney:	n/a	n/a
29	CTCF	chr2:48243900-48244050	HEK293	kidney:	n/a	chr2:48243971-48243980
30	CTCF	chr2:48243962-48243976	GM10266	blood:	n/a	n/a
31	CTCF	chr2:48243820-48243970	AG09319	gingival:	n/a	n/a
32	CTCF	chr2:48243900-48244050	SK-N-SH_RA	brain:	n/a	chr2:48243971-48243980
33	CTCF	chr2:48243757-48244120	HepG2	liver:	n/a	chr2:48243971-48243980
34	CTCF	chr2:48243860-48244010	HCM	heart:	n/a	chr2:48243971-48243980
35	CTCF	chr2:48243820-48243970	GM12870	blood:	n/a	n/a
36	CTCF	chr2:48243500-48243650	K562	blood:	n/a	n/a
37	CTCF	chr2:48243820-48243970	HFF	foreskin:	n/a	n/a
38	CTCF	chr2:48243880-48244030	HPAF	blood vessel:	n/a	chr2:48243971-48243980
39	CTCF	chr2:48243920-48244070	GM12868	blood:	n/a	chr2:48243971-48243980
40	CTCF	chr2:48243900-48244050	WERI-Rb-1	eye:	n/a	chr2:48243971-48243980
41	CTCF	chr2:48243980-48244130	GM12865	blood:	n/a	n/a
42	CTCF	chr2:48172926-48172983	GM10248	blood:	n/a	n/a
43	CTCF	chr2:48243904-48244035	Gliobla	brain:	n/a	chr2:48243971-48243980
44	CTCF	chr2:48243900-48244050	GM12865	blood:	n/a	chr2:48243971-48243980
45	CTCF	chr2:48243860-48244010	GM12864	blood:	n/a	chr2:48243971-48243980
46	CTCF	chr2:48170436-48170473	ProgFib	skin:	n/a	n/a
47	CTCF	chr2:48243866-48244075	HepG2	liver:	n/a	chr2:48243971-48243980
48	CTCF	chr2:48243860-48244010	HVMF	connective:	n/a	chr2:48243971-48243980
49	CTCF	chr2:48243880-48244030	MCF-7	breast:	n/a	chr2:48243971-48243980
50	CTCF	chr2:48243810-48244259	HCT-116	colon:	n/a	chr2:48243971-48243980

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:48165642-48165692	NHDF-neo	bronchial:	n/a
2	chr2:48165642-48165692	AG09309	skin:	n/a
3	chr2:48165642-48165692	HCT-116	colon:	n/a
4	chr2:48165642-48165692	PFSK-1	brain:	n/a
5	chr2:48165642-48165692	GM12891	blood:	n/a
6	chr2:48165642-48165692	IMR90	lung:	fetal
7	chr2:48165642-48165692	HCM	heart:	n/a
8	chr2:48165642-48165692	LNCaP	prostate:	n/a
9	chr2:48165642-48165692	HIPEpiC	eye:	n/a
10	chr2:48165642-48165692	HUVEC	blood vessel:	n/a
11	chr2:48165642-48165692	SK-N-SH_RA	brain:	n/a
12	chr2:48165642-48165692	GM12892	blood:	n/a
13	chr2:48165642-48165692	HRCEpiC	kidney:	n/a
14	chr2:48165642-48165692	Caco-2	colon:	n/a
15	chr2:48165642-48165692	BE2_C	brain:	n/a
16	chr2:48165642-48165692	HNPCEpiC	eye:	n/a
17	chr2:48165642-48165692	SAEC	small airway:	n/a
18	chr2:48165642-48165692	SKMC	muscle:	n/a
19	chr2:48165642-48165692	HRE	kidney:	n/a
20	chr2:48165642-48165692	NH-A	brain:	n/a
21	chr2:48165642-48165692	AoSMC	blood vessel:	n/a
22	chr2:48165642-48165692	Hela-S3	cervix:	n/a
23	chr2:48165642-48165692	U87	brain:	n/a
24	chr2:48165642-48165692	HL-60	blood:	n/a
25	chr2:48165642-48165692	HepG2	liver:	n/a
26	chr2:48165642-48165692	AG04449	skin:	fetal
27	chr2:48165642-48165692	NB4	blood:	n/a
28	chr2:48165642-48165692	HRPEpiC	eye:	n/a
29	chr2:48165642-48165692	ovcar-3	ovarian:	n/a
30	chr2:48165642-48165692	GM12878	blood:	n/a
31	chr2:48165642-48165692	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:48165642-48165692	Hepatocyte	liver:	n/a
33	chr2:48165642-48165692	RPTEC	kidney:	n/a
34	chr2:48165642-48165692	HCF	heart:	n/a
35	chr2:48165642-48165692	PrEC	prostate:	n/a
36	chr2:48165642-48165692	HCPEpiC	choroid plexus:	n/a
37	chr2:48165642-48165692	HEEpiC	esophagus:	n/a
38	chr2:48165642-48165692	T-47D	breast:	n/a
39	chr2:48165642-48165692	GM06990	blood:	n/a
40	chr2:48165642-48165692	Jurkat	blood:	n/a
41	chr2:48165642-48165692	ProgFib	skin:	n/a
42	chr2:48165642-48165692	BJ	skin:	n/a
43	chr2:48165642-48165692	ECC-1	luminal epithelium:	n/a
44	chr2:48165642-48165692	GM19239	blood:	n/a
45	chr2:48165642-48165692	MCF10A-Er-Src	breast:	n/a
46	chr2:48165642-48165692	CMK	blood:	n/a
47	chr2:48165642-48165692	H1-hESC	embryonic stem cell:	embryo
48	chr2:48165642-48165692	AG10803	skin:	n/a
49	chr2:48165642-48165692	AG09319	gingival:	n/a
50	chr2:48165642-48165692	MCF-7	breast:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48210960..48212858-chr2:48213095..48216637,3	K562	blood:
2	chr2:48230997..48232724-chr2:48234994..48237663,2	K562	blood:
3	chr2:48132581..48134242-chr2:48192902..48195748,2	MCF-7	breast:
4	chr2:48245288..48248000-chr2:48252875..48255116,2	K562	blood:
5	chr2:48230997..48232724-chr2:48234994..48237663,2	K562	blood:
6	chr2:48140078..48142090-chr2:48148120..48150075,2	K562	blood:
7	chr2:48143444..48146238-chr2:48150670..48152519,2	K562	blood:
8	chr2:48145654..48147755-chr2:48678957..48680778,2	K562	blood:
9	chr2:48131169..48134758-chr2:48242072..48246540,4	MCF-7	breast:
10	chr2:48169905..48172781-chr2:48177468..48179954,3	K562	blood:
11	chr2:48131518..48135610-chr2:48190483..48193584,3	MCF-7	breast:
12	chr2:48157578..48160414-chr2:48162153..48163925,2	MCF-7	breast:
13	chr2:48143444..48146238-chr2:48150670..48152519,2	K562	blood:
14	chr2:48009229..48010738-chr2:48170621..48172131,2	K562	blood:
15	chr2:48210960..48212858-chr2:48213095..48216637,3	K562	blood:
16	chr2:48131798..48134128-chr2:48231199..48233673,2	K562	blood:
17	chr2:48133188..48135694-chr2:48144353..48147760,4	K562	blood:
18	chr2:48131658..48133539-chr2:48207154..48209102,2	MCF-7	breast:
19	chr2:48169905..48172781-chr2:48177468..48179954,3	K562	blood:
20	chr2:48157578..48160414-chr2:48162153..48163925,2	MCF-7	breast:
21	chr2:48132451..48134760-chr2:48238687..48240434,2	K562	blood:
22	chr2:48140590..48142222-chr2:48148575..48150662,2	K562	blood:

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MSH6-6	chr2:48211369-48212166	l_1832_chr2:48211368-48231778_testes
2	lnc-FBXO11-1	chr2:48230439-48230564	ENSG00000230773
3	lnc-FBXO11-1	chr2:48189572-48189715	ENSG00000230773.2
4	lnc-FBXO11-1	chr2:48230439-48230564	ENSG00000230773.2
5	lnc-MSH6-6	chr2:48231685-48231778	l_1832_chr2:48211368-48231778_testes
6	lnc-FBXO11-1	chr2:48223855-48223929	ENSG00000230773
7	lnc-FBXO11-1	chr2:48231961-48232089	ENSG00000230773.2
8	lnc-FBXO11-1	chr2:48246499-48246569	ENSG00000230773.2
9	lnc-FBXO11-1	chr2:48177367-48177600	ENSG00000230773.2
10	lnc-FBXO11-1	chr2:48170670-48170751	NONHSAT070610
11	lnc-FBXO11-1	chr2:48172395-48172426	ENSG00000230773.2
12	lnc-FBXO11-1	chr2:48175523-48175548	ENSG00000230773
13	lnc-FBXO11-1	chr2:48223855-48223929	ENSG00000230773.2
14	lnc-FBXO11-1	chr2:48223855-48223929	NONHSAT070610
15	lnc-FBXO11-6	chr2:48245531-48245577	NONHSAT070598
16	lnc-FBXO11-1	chr2:48168835-48169957	ENSG00000230773
17	lnc-FBXO11-1	chr2:48170670-48170751	ENSG00000230773
18	lnc-FBXO11-1	chr2:48168835-48169957	NONHSAT070610
19	lnc-FBXO11-2	chr2:48166877-48167357	NONHSAT070609
20	lnc-FBXO11-1	chr2:48222286-48222570	ENSG00000230773.2
21	lnc-FBXO11-1	chr2:48175523-48175548	NONHSAT070610
22	lnc-FBXO11-1	chr2:48230439-48230564	NONHSAT070610
23	lnc-FBXO11-1	chr2:48172291-48172426	NONHSAT070610
24	lnc-FBXO11-1	chr2:48172291-48172426	ENSG00000230773

No data

Variant related genes	Relation type
ENSG00000226473	TF binding region
ENSG00000226473	CpG island
ENSG00000116062	chromatin interactions
ENSG00000138081	chromatin interactions
ENSG00000233230	chromatin interactions

Extended variants
information (count: 1307 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1307 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7587289	chr2:48146122-48146123	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562334859	chr2:48146225-48146226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577762262	chr2:48146245-48146246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545103530	chr2:48146268-48146269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560344302	chr2:48146316-48146317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527706387	chr2:48146324-48146325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369409469	chr2:48146366-48146367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531871970	chr2:48146367-48146368	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549085558	chr2:48146394-48146395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186188481	chr2:48146440-48146441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572180480	chr2:48146457-48146458	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs72876870	chr2:48146500-48146501	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542374500	chr2:48146505-48146506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190991521	chr2:48146550-48146551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554611548	chr2:48146562-48146563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs571869835	chr2:48146569-48146570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373673362	chr2:48146650-48146651	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145656767	chr2:48146745-48146746	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575702660	chr2:48146769-48146770	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551468392	chr2:48146804-48146805	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs566419344	chr2:48146811-48146812	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533813788	chr2:48146849-48146850	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs112844858	chr2:48146876-48146877	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567266964	chr2:48146959-48146960	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537747014	chr2:48146974-48146975	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs146570260	chr2:48147018-48147019	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs182103997	chr2:48147031-48147032	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548170621	chr2:48147032-48147033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577427216	chr2:48147054-48147055	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563649346	chr2:48147091-48147092	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376890992	chr2:48147119-48147120	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149170493	chr2:48147129-48147130	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs143322476	chr2:48147185-48147186	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564282756	chr2:48147187-48147188	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561120328	chr2:48147211-48147212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531688335	chr2:48147213-48147214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370027121	chr2:48147256-48147257	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544135282	chr2:48147280-48147281	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373519204	chr2:48147300-48147301	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs78435099	chr2:48147312-48147313	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532777204	chr2:48147314-48147315	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148352880	chr2:48147340-48147341	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566598717	chr2:48147355-48147356	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs78275917	chr2:48147401-48147402	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549010218	chr2:48147407-48147408	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186705488	chr2:48147441-48147442	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540260513	chr2:48147442-48147443	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561720863	chr2:48147445-48147446	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537409768	chr2:48147468-48147469	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529206295	chr2:48147494-48147495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Bladder cancer	21909424	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
small cell lung cancer	20016488	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
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48143800-48146600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:48146600-48147000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:48147600-48147800	Enhancers	HepG2	liver
4	chr2:48148600-48149000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:48150000-48150200	Enhancers	Gastric	stomach
6	chr2:48153600-48154200	Enhancers	HSMMtube	muscle
7	chr2:48161800-48162800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:48164400-48164600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:48164600-48164800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:48164600-48164800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:48164800-48165400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:48164800-48165600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:48165000-48165200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:48165000-48165400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:48165400-48165800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:48165800-48166200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:48169600-48169800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:48172200-48172800	Enhancers	Fetal Heart	heart
19	chr2:48173400-48174200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:48177800-48178400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:48178600-48179000	Enhancers	Fetal Muscle Trunk	muscle
22	chr2:48189600-48190000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:48191200-48192200	Enhancers	HepG2	liver
24	chr2:48191400-48192200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr2:48191400-48192600	Enhancers	Stomach Mucosa	stomach
26	chr2:48191600-48191800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:48191600-48192200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:48191800-48192200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:48192200-48192600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:48193400-48193800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:48193400-48193800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:48193800-48194400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:48193800-48194400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:48194000-48195200	Enhancers	Primary hematopoietic stem cells	blood
35	chr2:48194200-48195200	Enhancers	Fetal Brain Female	brain
36	chr2:48194400-48195600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:48194400-48195600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:48195000-48195200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:48195000-48195200	Bivalent Enhancer	HUVEC	blood vessel
40	chr2:48200800-48201200	Active TSS	Gastric	stomach
41	chr2:48211000-48211600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:48211200-48211600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:48211200-48211600	Enhancers	Adipose Nuclei	Adipose
44	chr2:48211200-48211600	Enhancers	Left Ventricle	heart
45	chr2:48211200-48211600	Enhancers	Right Atrium	heart
46	chr2:48211200-48211800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:48211400-48211800	Enhancers	GM12878-XiMat	blood
48	chr2:48216200-48217600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:48216600-48216800	Enhancers	Right Atrium	heart
50	chr2:48228400-48228800	Enhancers	Liver	Liver

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