Variant report

Variant	nsv520418
Chromosome Location	chr1:179761601-179794602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:916)
CpG islands
(count:672)
Chromatin interactive
region (count:46)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:179783989-179784189	K562	blood:	n/a	n/a
2	ATF1	chr1:179781787-179781975	K562	blood:	n/a	n/a
3	ATF1	chr1:179763808-179764172	K562	blood:	n/a	n/a
4	ATF1	chr1:179787824-179788386	K562	blood:	n/a	n/a
5	ATF1	chr1:179793411-179793726	K562	blood:	n/a	n/a
6	ATF1	chr1:179777282-179777615	K562	blood:	n/a	n/a
7	ATF3	chr1:179787794-179788155	K562	blood:	n/a	n/a
8	BACH1	chr1:179783798-179784696	H1-hESC	embryonic stem cell:	n/a	n/a
9	BHLHE40	chr1:179787845-179788393	K562	blood:	n/a	n/a
10	BHLHE40	chr1:179793449-179793609	K562	blood:	n/a	n/a
11	BHLHE40	chr1:179781679-179781953	K562	blood:	n/a	n/a
12	BHLHE40	chr1:179779001-179779273	K562	blood:	n/a	n/a
13	BHLHE40	chr1:179777343-179777591	K562	blood:	n/a	n/a
14	BHLHE40	chr1:179785536-179785554	K562	blood:	n/a	n/a
15	BHLHE40	chr1:179783667-179784648	K562	blood:	n/a	n/a
16	BRCA1	chr1:179784644-179784663	GM12878	blood:	n/a	n/a
17	BRCA1	chr1:179783846-179784052	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr1:179779027-179779291	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr1:179787720-179788429	K562	blood:	n/a	n/a
20	CBX3	chr1:179783652-179784319	K562	blood:	n/a	n/a
21	CCNT2	chr1:179763829-179764115	K562	blood:	n/a	n/a
22	CCNT2	chr1:179787840-179788247	K562	blood:	n/a	n/a
23	CCNT2	chr1:179784216-179784542	K562	blood:	n/a	n/a
24	CEBPB	chr1:179793451-179793635	K562	blood:	n/a	n/a
25	CEBPB	chr1:179774901-179775370	MCF-7	breast:	n/a	n/a
26	CEBPB	chr1:179783978-179784441	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr1:179793407-179793679	K562	blood:	n/a	n/a
28	CEBPB	chr1:179763898-179764030	HepG2	liver:	n/a	n/a
29	CEBPB	chr1:179787184-179787382	IMR90	lung:	n/a	n/a
30	CEBPB	chr1:179781698-179781994	IMR90	lung:	n/a	n/a
31	CEBPB	chr1:179783952-179784039	K562	blood:	n/a	n/a
32	CEBPB	chr1:179781757-179781993	K562	blood:	n/a	n/a
33	CEBPB	chr1:179774898-179775290	MCF-7	breast:	n/a	n/a
34	CEBPB	chr1:179774992-179775154	HepG2	liver:	n/a	n/a
35	CEBPB	chr1:179793459-179793670	HepG2	liver:	n/a	n/a
36	CEBPB	chr1:179763828-179764092	K562	blood:	n/a	n/a
37	CEBPB	chr1:179763773-179764097	K562	blood:	n/a	n/a
38	CEBPB	chr1:179777156-179777610	IMR90	lung:	n/a	n/a
39	CHD2	chr1:179781629-179782007	K562	blood:	n/a	n/a
40	CHD2	chr1:179784145-179784186	HepG2	liver:	n/a	n/a
41	CHD2	chr1:179781711-179781953	HepG2	liver:	n/a	n/a
42	CHD2	chr1:179784258-179784438	K562	blood:	n/a	n/a
43	CHD2	chr1:179788109-179788149	K562	blood:	n/a	n/a
44	CHD2	chr1:179783859-179784199	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr1:179783916-179784401	A549	lung:	n/a	n/a
46	CREB1	chr1:179778883-179779347	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr1:179779060-179779210	BE2_C	brain:	n/a	chr1:179779131-179779152 chr1:179779139-179779149 chr1:179779136-179779154 chr1:179779142-179779151 chr1:179779137-179779153 chr1:179779138-179779151
48	CTCF	chr1:179784020-179784170	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr1:179766120-179766270	NHEK	skin:	n/a	n/a
50	CTCF	chr1:179783832-179784290	H1-hESC	embryonic stem cell:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:179786966-179787016	AG10803	skin:	n/a
2	chr1:179786966-179787016	AG10803	skin:	n/a
3	chr1:179782240-179782290	U87	brain:	n/a
4	chr1:179784495-179784545	HCM	heart:	n/a
5	chr1:179784495-179784545	SAEC	small airway:	n/a
6	chr1:179787968-179788018	NHBE	bronchial:	n/a
7	chr1:179782684-179782734	HCM	heart:	n/a
8	chr1:179784720-179784770	HRCEpiC	kidney:	n/a
9	chr1:179782684-179782734	H1-hESC	embryonic stem cell:	embryo
10	chr1:179781780-179781830	Hela-S3	cervix:	n/a
11	chr1:179782684-179782734	MCF-7	breast:	n/a
12	chr1:179781780-179781830	GM19239	blood:	n/a
13	chr1:179786966-179787016	HUVEC	blood vessel:	n/a
14	chr1:179782684-179782734	HUVEC	blood vessel:	n/a
15	chr1:179786966-179787016	Caco-2	colon:	n/a
16	chr1:179784720-179784770	SK-N-SH_RA	brain:	n/a
17	chr1:179784495-179784545	NHDF-neo	bronchial:	n/a
18	chr1:179782240-179782290	BJ	skin:	n/a
19	chr1:179784495-179784545	NHBE	bronchial:	n/a
20	chr1:179781957-179782007	HPAEpiC	pulmonary alveolar:	n/a
21	chr1:179781957-179782007	GM12891	blood:	n/a
22	chr1:179784720-179784770	PFSK-1	brain:	n/a
23	chr1:179787403-179787453	PrEC	prostate:	n/a
24	chr1:179787968-179788018	AG09309	skin:	n/a
25	chr1:179787968-179788018	A549	lung:	n/a
26	chr1:179781780-179781830	IMR90	lung:	fetal
27	chr1:179784167-179784217	AG10803	skin:	n/a
28	chr1:179786966-179787016	LNCaP	prostate:	n/a
29	chr1:179784167-179784217	HAEpiC	amniotic membrane:	n/a
30	chr1:179787968-179788018	IMR90	lung:	fetal
31	chr1:179777372-179777422	AG04449	skin:	fetal
32	chr1:179777372-179777422	AoSMC	blood vessel:	n/a
33	chr1:179781957-179782007	SAEC	small airway:	n/a
34	chr1:179781957-179782007	SK-N-SH_RA	brain:	n/a
35	chr1:179781780-179781830	HPAEpiC	pulmonary alveolar:	n/a
36	chr1:179787968-179788018	SKMC	muscle:	n/a
37	chr1:179782684-179782734	CMK	blood:	n/a
38	chr1:179777372-179777422	CMK	blood:	n/a
39	chr1:179777372-179777422	HCPEpiC	choroid plexus:	n/a
40	chr1:179781780-179781830	HEEpiC	esophagus:	n/a
41	chr1:179786966-179787016	HAEpiC	amniotic membrane:	n/a
42	chr1:179781780-179781830	ProgFib	skin:	n/a
43	chr1:179786966-179787016	K562	blood:	n/a
44	chr1:179781780-179781830	SKMC	muscle:	n/a
45	chr1:179782240-179782290	GM06990	blood:	n/a
46	chr1:179784720-179784770	GM12878	blood:	n/a
47	chr1:179782684-179782734	SK-N-SH_RA	brain:	n/a
48	chr1:179782684-179782734	MCF10A-Er-Src	breast:	n/a
49	chr1:179784167-179784217	GM12892	blood:	n/a
50	chr1:179784495-179784545	NB4	blood:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:179754312..179756868-chr1:179760005..179761772,2	K562	blood:
2	chr1:179675678..179676199-chr1:179776244..179777035,2	K562	blood:
3	chr1:179220959..179221479-chr1:179783428..179784123,2	MCF-7	breast:
4	chr1:179220618..179221536-chr1:179778672..179779568,2	MCF-7	breast:
5	chr1:179781708..179784126-chr1:179850566..179852565,2	MCF-7	breast:
6	chr1:179783903..179786438-chr1:179821262..179823436,2	K562	blood:
7	chr1:179763583..179764303-chr1:179778563..179779345,2	K562	blood:
8	chr1:179794600..179795490-chr6:105142707..105143333,2	MCF-7	breast:
9	chr1:179761104..179763145-chr1:179763232..179765002,2	MCF-7	breast:
10	chr1:179789367..179791687-chr1:179791812..179794123,2	MCF-7	breast:
11	chr1:179793280..179795680-chr1:179799049..179800852,2	K562	blood:
12	chr1:179675454..179676124-chr1:179778665..179779603,5	K562	blood:
13	chr1:179759492..179761107-chr1:179780087..179782763,2	MCF-7	breast:
14	chr1:179675242..179676113-chr1:179783547..179784540,8	K562	blood:
15	chr1:179768821..179770885-chr1:179774667..179776979,2	MCF-7	breast:
16	chr1:179675150..179675901-chr1:179778694..179779521,4	MCF-7	breast:
17	chr1:179775866..179779204-chr1:179781630..179784471,3	MCF-7	breast:
18	chr1:179776435..179778969-chr1:179781392..179784321,2	MCF-7	breast:
19	chr1:179776435..179778969-chr1:179781392..179784321,2	MCF-7	breast:
20	chr1:179765591..179767711-chr1:179767923..179770054,2	K562	blood:
21	chr1:179765591..179767711-chr1:179767923..179770054,2	K562	blood:
22	chr1:179763583..179764303-chr1:179778563..179779345,2	K562	blood:
23	chr1:179782871..179785322-chr1:179845479..179847389,2	K562	blood:
24	chr1:179789367..179791687-chr1:179791812..179794123,2	MCF-7	breast:
25	chr1:179672208..179674210-chr1:179778316..179781099,2	MCF-7	breast:
26	chr1:179784112..179785710-chr1:179826992..179828594,2	MCF-7	breast:
27	chr1:179676547..179677257-chr1:179778692..179779510,3	K562	blood:
28	chr1:179783164..179785606-chr1:179786239..179787962,2	K562	blood:
29	chr1:179675234..179676215-chr1:179783594..179784662,4	MCF-7	breast:
30	chr1:179792919..179795470-chr1:179832421..179835252,2	K562	blood:
31	chr1:179775866..179779204-chr1:179781630..179784471,3	MCF-7	breast:
32	chr1:179675218..179676600-chr1:179778027..179780620,16	MCF-7	breast:
33	chr1:179768821..179770885-chr1:179774667..179776979,2	MCF-7	breast:
34	chr1:179710455..179712100-chr1:179764385..179766334,2	MCF-7	breast:
35	chr1:179755151..179757175-chr1:179780733..179783083,2	K562	blood:
36	chr1:179790978..179794295-chr1:179796024..179798351,4	MCF-7	breast:
37	chr1:179784350..179786856-chr1:179790134..179792263,2	K562	blood:
38	chr1:179756518..179758050-chr1:179763484..179765483,2	K562	blood:
39	chr1:179783615..179784508-chr1:180137753..180138564,2	K562	blood:
40	chr1:179788028..179789983-chr1:179795893..179797675,2	K562	blood:
41	chr1:179794231..179796736-chr1:179797450..179799021,2	K562	blood:
42	chr1:179674246..179676441-chr1:179778955..179781367,2	MCF-7	breast:
43	chr1:179755511..179758050-chr1:179762930..179764984,2	K562	blood:
44	chr1:179757016..179759974-chr1:179761097..179763047,2	K562	blood:
45	chr1:179761104..179763145-chr1:179763232..179765002,2	MCF-7	breast:
46	chr1:179753091..179756983-chr1:179758048..179761772,4	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TOR1AIP2-2	chr1:179782871-179785662	NONHSAT008208
2	lnc-TOR1AIP2-2	chr1:179786503-179786959	NONHSAT008211
3	lnc-TOR1AIP2-2	chr1:179784312-179785662	NONHSAT008211
4	lnc-TOR1AIP2-2	chr1:179782871-179785662	NONHSAT008207
5	lnc-TOR1AIP2-2	chr1:179786503-179786589	NONHSAT008208
6	lnc-TOR1AIP2-2	chr1:179785319-179785662	ENSG00000229407.1
7	lnc-TOR1AIP2-2	chr1:179785319-179785662	ENSG00000229407.1
8	lnc-TOR1AIP2-2	chr1:179786503-179786559	ENSG00000229407.1
9	lnc-TOR1AIP2-2	chr1:179788121-179788256	NONHSAT008207
10	lnc-TOR1AIP2-2	chr1:179787127-179787326	ENSG00000229407.1
11	lnc-TOR1AIP2-2	chr1:179788144-179788256	NONHSAT008208

No data

Variant related genes	Relation type
ENSG00000229407	TF binding region
ENSG00000229407	CpG island
ENSG00000143337	chromatin interactions
ENSG00000169905	chromatin interactions
ENSG00000272906	chromatin interactions
ENSG00000258664	chromatin interactions
ENSG00000229407	chromatin interactions
ENSG00000243062	chromatin interactions

Extended variants
information (count: 1320 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1320 , 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	rs12120743	chr1:179761601-179761602	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192351106	chr1:179761679-179761680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553342698	chr1:179761746-179761747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150013889	chr1:179761751-179761752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76623711	chr1:179761850-179761851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555475844	chr1:179761859-179761860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146568984	chr1:179761861-179761862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6690639	chr1:179761869-179761870	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs140145257	chr1:179761885-179761886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577612608	chr1:179761918-179761919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570211865	chr1:179761919-179761920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530395977	chr1:179761949-179761950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72311795	chr1:179762015-179762016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546467548	chr1:179762016-179762017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71736036	chr1:179762026-179762027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59009302	chr1:179762030-179762031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554935797	chr1:179762031-179762032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537547321	chr1:179762032-179762033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12124321	chr1:179762044-179762045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74132260	chr1:179762097-179762098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147410189	chr1:179762151-179762152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542032981	chr1:179762152-179762153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556163541	chr1:179762163-179762164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182508662	chr1:179762219-179762220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563691787	chr1:179762250-179762251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76115132	chr1:179762270-179762271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113013083	chr1:179762307-179762308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550840498	chr1:179762318-179762319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570812153	chr1:179762323-179762324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187967461	chr1:179762341-179762342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546897246	chr1:179762358-179762359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs5779036	chr1:179762446-179762447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566797543	chr1:179762485-179762486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373357077	chr1:179762497-179762498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190223430	chr1:179762539-179762540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555612209	chr1:179762595-179762596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568814271	chr1:179762623-179762624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572145859	chr1:179762630-179762631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116191844	chr1:179762631-179762632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115142749	chr1:179762634-179762635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577551499	chr1:179762678-179762679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539864120	chr1:179762690-179762691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553217109	chr1:179762707-179762708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73039692	chr1:179762723-179762724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182815626	chr1:179762774-179762775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs867440	chr1:179762786-179762787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3892028	chr1:179762889-179762890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575902493	chr1:179762923-179762924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544674910	chr1:179763015-179763016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs16854717	chr1:179763017-179763018	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:774 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179757800-179764400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:179761000-179762000	Enhancers	Fetal Intestine Small	intestine
3	chr1:179761400-179762800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:179761600-179761800	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:179761600-179763200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:179761800-179763400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:179762000-179763200	Weak transcription	Fetal Intestine Small	intestine
8	chr1:179762800-179764200	Enhancers	Left Ventricle	heart
9	chr1:179762800-179764600	Enhancers	HSMMtube	muscle
10	chr1:179762800-179765600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:179763000-179764400	Enhancers	Right Atrium	heart
12	chr1:179763200-179764600	Enhancers	Fetal Heart	heart
13	chr1:179763200-179764600	Enhancers	Fetal Intestine Large	intestine
14	chr1:179763200-179764600	Weak transcription	Pancreas	Pancrea
15	chr1:179763200-179764800	Enhancers	Fetal Intestine Small	intestine
16	chr1:179763400-179765000	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:179763800-179764200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:179763800-179764400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:179763800-179764800	Enhancers	HMEC	breast
20	chr1:179763800-179765000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:179764000-179764400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:179764400-179764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:179764400-179764800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:179764400-179767600	Weak transcription	Right Atrium	heart
25	chr1:179764600-179764800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:179764600-179764800	Enhancers	Pancreas	Pancrea
27	chr1:179764800-179768000	Weak transcription	Fetal Intestine Small	intestine
28	chr1:179764800-179768200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:179764800-179768200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:179764800-179768400	Weak transcription	Pancreas	Pancrea
31	chr1:179765600-179766000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:179765800-179766200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:179766000-179766200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:179766200-179767800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:179767600-179768600	Enhancers	Right Atrium	heart
36	chr1:179767600-179768600	Enhancers	GM12878-XiMat	blood
37	chr1:179767800-179768600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:179768000-179768600	Enhancers	Psoas Muscle	Psoas
39	chr1:179768000-179769000	Enhancers	Fetal Intestine Small	intestine
40	chr1:179768200-179768400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:179768200-179768600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:179768200-179768600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:179768400-179768600	Enhancers	Pancreas	Pancrea
44	chr1:179768600-179769600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:179768600-179770800	Weak transcription	GM12878-XiMat	blood
46	chr1:179769000-179776200	Weak transcription	Fetal Intestine Small	intestine
47	chr1:179769200-179769600	Enhancers	Stomach Mucosa	stomach
48	chr1:179769600-179770000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr1:179770800-179771000	Enhancers	GM12878-XiMat	blood
50	chr1:179771400-179771600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links