Variant report

Variant	nsv1010864
Chromosome Location	chr1:227199493-227246753
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:61)
Chromatin interactive
region (count:34)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:227232193-227232430	K562	blood:	n/a	n/a
2	ARID3A	chr1:227231537-227231737	K562	blood:	n/a	n/a
3	BACH1	chr1:227231455-227231670	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:227231445-227231759	K562	blood:	n/a	n/a
5	CEBPB	chr1:227230055-227230283	A549	lung:	n/a	n/a
6	CEBPB	chr1:227231468-227231709	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr1:227246204-227246547	IMR90	lung:	n/a	n/a
8	CEBPB	chr1:227230023-227230323	K562	blood:	n/a	n/a
9	CEBPB	chr1:227222245-227222399	A549	lung:	n/a	n/a
10	CEBPB	chr1:227231508-227231769	K562	blood:	n/a	n/a
11	CEBPB	chr1:227231385-227231813	IMR90	lung:	n/a	n/a
12	CEBPB	chr1:227231524-227231767	A549	lung:	n/a	n/a
13	CEBPB	chr1:227211390-227211501	HepG2	liver:	n/a	n/a
14	CTCF	chr1:227208888-227208918	GM20000	blood:	n/a	n/a
15	CTCF	chr1:227231920-227232070	HMF	breast:	n/a	n/a
16	CTCF	chr1:227216380-227216530	HRE	kidney:	n/a	n/a
17	CTCF	chr1:227231700-227231850	HVMF	connective:	n/a	n/a
18	CTCF	chr1:227231860-227232010	HMF	breast:	n/a	n/a
19	CTCF	chr1:227233562-227233603	Fibrobl	skin:	n/a	n/a
20	CTCF	chr1:227232000-227232150	AG04450	lung:	n/a	n/a
21	CTCF	chr1:227231880-227232030	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr1:227231900-227232050	HCPEpiC	choroid plexus:	n/a	n/a
23	CUX1	chr1:227232670-227232690	K562	blood:	n/a	n/a
24	CUX1	chr1:227200794-227200994	K562	blood:	n/a	n/a
25	E2F4	chr1:227231329-227231726	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr1:227200125-227200385	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr1:227223505-227223591	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr1:227235958-227236444	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr1:227226195-227226213	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr1:227238126-227238298	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr1:227246200-227246498	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr1:227205230-227205441	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr1:227237441-227237822	MCF10A-Er-Src	breast:	n/a	n/a
34	EP300	chr1:227220950-227221028	GM12878	blood:	n/a	n/a
35	EP300	chr1:227231490-227231727	K562	blood:	n/a	n/a
36	FOS	chr1:227246186-227246567	MCF10A-Er-Src	breast:	n/a	chr1:227246379-227246387 chr1:227246378-227246388 chr1:227246377-227246389 chr1:227246202-227246214 chr1:227246378-227246388
37	FOS	chr1:227224013-227224116	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr1:227221627-227221912	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr1:227231416-227231777	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr1:227231404-227231877	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr1:227231411-227231870	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr1:227223939-227224175	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr1:227246168-227246559	MCF10A-Er-Src	breast:	n/a	chr1:227246379-227246387 chr1:227246378-227246388 chr1:227246377-227246389 chr1:227246202-227246214 chr1:227246378-227246388
44	FOS	chr1:227231416-227231865	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr1:227221606-227221912	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr1:227223921-227224121	HUVEC	blood vessel:	n/a	n/a
47	FOS	chr1:227223924-227224112	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr1:227246188-227246556	MCF10A-Er-Src	breast:	n/a	chr1:227246379-227246387 chr1:227246378-227246388 chr1:227246377-227246389 chr1:227246202-227246214 chr1:227246378-227246388
49	FOS	chr1:227246033-227246562	MCF10A-Er-Src	breast:	n/a	chr1:227246379-227246387 chr1:227246378-227246388 chr1:227246377-227246389 chr1:227246202-227246214 chr1:227246378-227246388
50	FOXA1	chr1:227204633-227205093	HepG2	liver:	n/a	chr1:227204913-227204928 chr1:227204937-227204949 chr1:227204935-227204950

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:227204743-227204793	HCT-116	colon:	n/a
2	chr1:227204743-227204793	PANC-1	pancreas:	n/a
3	chr1:227204743-227204793	MCF-7	breast:	n/a
4	chr1:227204743-227204793	Hela-S3	cervix:	n/a
5	chr1:227204743-227204793	PrEC	prostate:	n/a
6	chr1:227204743-227204793	NB4	blood:	n/a
7	chr1:227204743-227204793	BE2_C	brain:	n/a
8	chr1:227204743-227204793	HIPEpiC	eye:	n/a
9	chr1:227204743-227204793	AG04450	lung:	fetal
10	chr1:227204743-227204793	GM19239	blood:	n/a
11	chr1:227204743-227204793	HepG2	liver:	n/a
12	chr1:227204743-227204793	HEK293	kidney:	embryo
13	chr1:227204743-227204793	AG04449	skin:	fetal
14	chr1:227204743-227204793	Jurkat	blood:	n/a
15	chr1:227204743-227204793	ovcar-3	ovarian:	n/a
16	chr1:227204743-227204793	GM06990	blood:	n/a
17	chr1:227204743-227204793	H1-hESC	embryonic stem cell:	embryo
18	chr1:227204743-227204793	ECC-1	luminal epithelium:	n/a
19	chr1:227204743-227204793	HRPEpiC	eye:	n/a
20	chr1:227204743-227204793	ProgFib	skin:	n/a
21	chr1:227204743-227204793	HAEpiC	amniotic membrane:	n/a
22	chr1:227204743-227204793	K562	blood:	n/a
23	chr1:227204743-227204793	NHDF-neo	bronchial:	n/a
24	chr1:227204743-227204793	HMEC	breast:	n/a
25	chr1:227204743-227204793	AoSMC	blood vessel:	n/a
26	chr1:227204743-227204793	GM12891	blood:	n/a
27	chr1:227204743-227204793	HL-60	blood:	n/a
28	chr1:227204743-227204793	A549	lung:	n/a
29	chr1:227204743-227204793	HNPCEpiC	eye:	n/a
30	chr1:227204743-227204793	HCM	heart:	n/a
31	chr1:227204743-227204793	HCPEpiC	choroid plexus:	n/a
32	chr1:227204743-227204793	BJ	skin:	n/a
33	chr1:227204743-227204793	NT2-D1	testis:	n/a
34	chr1:227204743-227204793	GM12892	blood:	n/a
35	chr1:227204743-227204793	Hepatocyte	liver:	n/a
36	chr1:227204743-227204793	NH-A	brain:	n/a
37	chr1:227204743-227204793	HCF	heart:	n/a
38	chr1:227204743-227204793	AG10803	skin:	n/a
39	chr1:227204743-227204793	NHBE	bronchial:	n/a
40	chr1:227204743-227204793	HRE	kidney:	n/a
41	chr1:227204743-227204793	U87	brain:	n/a
42	chr1:227204743-227204793	T-47D	breast:	n/a
43	chr1:227204743-227204793	SAEC	small airway:	n/a
44	chr1:227204743-227204793	PFSK-1	brain:	n/a
45	chr1:227204743-227204793	AG09309	skin:	n/a
46	chr1:227204743-227204793	Caco-2	colon:	n/a
47	chr1:227204743-227204793	GM12878	blood:	n/a
48	chr1:227204743-227204793	LNCaP	prostate:	n/a
49	chr1:227204743-227204793	IMR90	lung:	fetal
50	chr1:227204743-227204793	HRCEpiC	kidney:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227204938..227208966-chr1:227211408..227214932,3	K562	blood:
2	chr1:227203735..227207189-chr1:227216806..227218910,3	K562	blood:
3	chr1:227242900..227245161-chr1:227250146..227252441,3	K562	blood:
4	chr1:227176748..227179639-chr1:227203696..227206126,2	K562	blood:
5	chr1:227231345..227233578-chr1:227235477..227237603,2	MCF-7	breast:
6	chr1:227210940..227212945-chr1:227215048..227216859,2	K562	blood:
7	chr1:227192966..227196885-chr1:227199630..227203259,4	K562	blood:
8	chr1:227236590..227238961-chr1:227241573..227243242,3	K562	blood:
9	chr1:227230140..227234774-chr1:227236431..227241922,5	K562	blood:
10	chr1:227167759..227170320-chr1:227201779..227203715,2	K562	blood:
11	chr1:227224836..227227359-chr1:227231406..227233044,2	K562	blood:
12	chr1:227243831..227246541-chr1:227247776..227250757,2	K562	blood:
13	chr1:227219115..227221995-chr1:227227439..227229511,2	K562	blood:
14	chr1:227230140..227234774-chr1:227236431..227241922,5	K562	blood:
15	chr1:227197069..227199445-chr1:227199519..227201272,2	K562	blood:
16	chr1:227219115..227221995-chr1:227227439..227229511,2	K562	blood:
17	chr1:227204938..227208966-chr1:227211408..227214932,3	K562	blood:
18	chr1:227166644..227169259-chr1:227201639..227203715,2	K562	blood:
19	chr1:227236504..227239220-chr1:227240349..227243242,4	K562	blood:
20	chr1:227225377..227226974-chr1:227228914..227231037,2	K562	blood:
21	chr1:227224836..227227359-chr1:227231406..227233044,2	K562	blood:
22	chr1:227236504..227239220-chr1:227240349..227243242,4	K562	blood:
23	chr1:227203892..227205446-chr1:227206792..227208982,2	K562	blood:
24	chr1:227231345..227233578-chr1:227235477..227237603,2	MCF-7	breast:
25	chr1:227216665..227219394-chr1:227921032..227923176,2	K562	blood:
26	chr1:227231949..227233855-chr1:227255369..227258277,2	K562	blood:
27	chr1:227162698..227165220-chr1:227198179..227200778,2	MCF-7	breast:
28	chr1:227210940..227212945-chr1:227215048..227216859,2	K562	blood:
29	chr1:227225377..227226974-chr1:227228914..227231037,2	K562	blood:
30	chr1:227216840..227218433-chr1:227220852..227222970,2	K562	blood:
31	chr1:227203735..227207189-chr1:227216806..227218910,3	K562	blood:
32	chr1:227236590..227238961-chr1:227241573..227243242,3	K562	blood:
33	chr1:227203892..227205446-chr1:227206792..227208982,2	K562	blood:
34	chr1:227199734..227200559-chr6:71601096..71601915,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADCK3-5	chr1:227237319-227238751	NONHSAT009913

No data

Variant related genes	Relation type
CDC42BPA	TF binding region
CDC42BPA	CpG island
ENSG00000081692	chromatin interactions
ENSG00000143776	chromatin interactions
ENSG00000163050	chromatin interactions
ENSG00000143740	chromatin interactions

Extended variants
information (count: 1778 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1778 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557334880	chr1:227199494-227199495	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs116735666	chr1:227199514-227199515	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200031133	chr1:227199515-227199516	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577098214	chr1:227199605-227199606	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116507347	chr1:227199617-227199618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184456697	chr1:227199665-227199666	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs59945801	chr1:227199679-227199680	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541866533	chr1:227199687-227199688	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145412525	chr1:227199696-227199697	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1929862	chr1:227199718-227199719	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs530606331	chr1:227199767-227199768	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527486652	chr1:227199845-227199846	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571799376	chr1:227199889-227199890	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530401942	chr1:227199929-227199930	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542841507	chr1:227199983-227199984	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190622918	chr1:227200018-227200019	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182052042	chr1:227200059-227200060	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554486277	chr1:227200074-227200075	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550235241	chr1:227200093-227200094	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs4653474	chr1:227200100-227200101	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576490930	chr1:227200145-227200146	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs61834002	chr1:227200159-227200160	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139421460	chr1:227200168-227200169	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186465836	chr1:227200205-227200206	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs558512286	chr1:227200303-227200304	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576965133	chr1:227200311-227200312	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541338290	chr1:227200387-227200388	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs534815159	chr1:227200422-227200423	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs115486726	chr1:227200510-227200511	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs190457061	chr1:227200522-227200523	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181672222	chr1:227200542-227200543	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs61834003	chr1:227200570-227200571	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530557550	chr1:227200608-227200609	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563672835	chr1:227200676-227200677	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545877741	chr1:227200682-227200683	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs2183835	chr1:227200718-227200719	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532696599	chr1:227200759-227200760	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs543172532	chr1:227200779-227200780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186373437	chr1:227200846-227200847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6704144	chr1:227201030-227201031	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs530310130	chr1:227201050-227201051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12117027	chr1:227201085-227201086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542850219	chr1:227201096-227201097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548214976	chr1:227201097-227201098	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570023516	chr1:227201098-227201099	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199751667	chr1:227201106-227201107	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558963964	chr1:227201172-227201173	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570568736	chr1:227201274-227201275	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534780031	chr1:227201288-227201289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182752839	chr1:227201291-227201292	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:948 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
2	chr1:227175200-227210200	Weak transcription	HMEC	breast
3	chr1:227175600-227216200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:227176000-227216400	Weak transcription	NHLF	lung
5	chr1:227177400-227255200	Weak transcription	Small Intestine	intestine
6	chr1:227178400-227271200	Weak transcription	Psoas Muscle	Psoas
7	chr1:227178600-227206600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:227178600-227226200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:227179400-227204400	Weak transcription	Stomach Mucosa	stomach
10	chr1:227179400-227215000	Weak transcription	Placenta	Placenta
11	chr1:227179600-227213800	Weak transcription	NH-A	brain
12	chr1:227182000-227216000	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:227182200-227205600	Weak transcription	Fetal Brain Male	brain
14	chr1:227182600-227206400	Weak transcription	Brain Germinal Matrix	brain
15	chr1:227182800-227224200	Weak transcription	Spleen	Spleen
16	chr1:227183200-227202600	Weak transcription	Pancreas	Pancrea
17	chr1:227183200-227228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:227183200-227240400	Weak transcription	Colonic Mucosa	Colon
19	chr1:227183600-227204600	Weak transcription	HepG2	liver
20	chr1:227183800-227203000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:227184000-227203200	Weak transcription	Brain Substantia Nigra	brain
22	chr1:227184000-227204200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:227184000-227214600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:227184000-227234000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:227184200-227206600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:227184600-227208000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:227187200-227218600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:227189200-227207400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:227190600-227202600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:227190600-227206600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:227190600-227217000	Weak transcription	Esophagus	oesophagus
32	chr1:227190600-227223200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:227190600-227272600	Weak transcription	Lung	lung
34	chr1:227191200-227202600	Weak transcription	Fetal Intestine Small	intestine
35	chr1:227191200-227208200	Weak transcription	NHEK	skin
36	chr1:227191200-227214400	Weak transcription	Aorta	Aorta
37	chr1:227191400-227204000	Weak transcription	NHDF-Ad	bronchial
38	chr1:227191600-227206600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:227191800-227206400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:227192200-227207000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:227192400-227206600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:227192600-227204200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:227192600-227206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:227192600-227220200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:227192800-227199600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:227192800-227202600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:227192800-227202600	Weak transcription	Adipose Nuclei	Adipose
48	chr1:227192800-227202600	Weak transcription	Brain Angular Gyrus	brain
49	chr1:227192800-227202600	Weak transcription	Left Ventricle	heart
50	chr1:227192800-227203000	Weak transcription	Brain Inferior Temporal Lobe	brain

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