Variant report

Variant	nsv873076
Chromosome Location	chr1:197529218-197689967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1057)
CpG islands
(count:61)
Chromatin interactive
region (count:100)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1057 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:197584280-197585143	HepG2	liver:	n/a	chr1:197584674-197584690 chr1:197584673-197584689
2	ARID3A	chr1:197644643-197644869	K562	blood:	n/a	n/a
3	ARID3A	chr1:197589421-197590390	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:197646598-197647338	K562	blood:	n/a	n/a
5	ARID3A	chr1:197684109-197684259	HepG2	liver:	n/a	chr1:197684219-197684235
6	ARID3A	chr1:197588227-197588560	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:197554837-197555391	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:197573620-197573856	HepG2	liver:	n/a	n/a
9	ARID3A	chr1:197588203-197588456	K562	blood:	n/a	n/a
10	ARID3A	chr1:197611757-197611859	K562	blood:	n/a	n/a
11	ATF1	chr1:197584346-197584582	K562	blood:	n/a	n/a
12	ATF1	chr1:197662155-197662348	K562	blood:	n/a	n/a
13	ATF1	chr1:197608561-197608593	K562	blood:	n/a	n/a
14	ATF1	chr1:197628585-197628753	K562	blood:	n/a	n/a
15	ATF1	chr1:197659216-197659501	K562	blood:	n/a	n/a
16	ATF1	chr1:197607591-197607763	K562	blood:	n/a	n/a
17	ATF3	chr1:197659190-197659476	K562	blood:	n/a	n/a
18	BACH1	chr1:197564687-197564784	K562	blood:	n/a	n/a
19	BHLHE40	chr1:197564505-197564788	K562	blood:	n/a	n/a
20	BHLHE40	chr1:197644677-197645357	K562	blood:	n/a	n/a
21	BHLHE40	chr1:197675686-197675706	GM12878	blood:	n/a	n/a
22	BRCA1	chr1:197637535-197637557	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr1:197558816-197558975	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr1:197688042-197688145	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr1:197583197-197583208	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr1:197662092-197662375	Hela-S3	cervix:	n/a	n/a
27	CBX3	chr1:197657398-197657712	K562	blood:	n/a	n/a
28	CBX3	chr1:197659156-197659567	K562	blood:	n/a	n/a
29	CBX3	chr1:197657426-197657826	K562	blood:	n/a	n/a
30	CBX3	chr1:197536610-197536899	K562	blood:	n/a	n/a
31	CBX3	chr1:197536588-197536949	K562	blood:	n/a	n/a
32	CCNT2	chr1:197564397-197564676	K562	blood:	n/a	n/a
33	CCNT2	chr1:197610891-197610908	K562	blood:	n/a	n/a
34	CCNT2	chr1:197628837-197629021	K562	blood:	n/a	n/a
35	CEBPB	chr1:197644684-197645178	K562	blood:	n/a	chr1:197644801-197644814
36	CEBPB	chr1:197636118-197636325	A549	lung:	n/a	chr1:197636214-197636225
37	CEBPB	chr1:197585966-197586134	K562	blood:	n/a	chr1:197586019-197586030 chr1:197586019-197586032
38	CEBPB	chr1:197589743-197590037	A549	lung:	n/a	chr1:197589796-197589807
39	CEBPB	chr1:197635996-197636379	ECC-1	luminal epithelium:	n/a	chr1:197636214-197636225
40	CEBPB	chr1:197640274-197640571	IMR90	lung:	n/a	n/a
41	CEBPB	chr1:197665547-197665849	IMR90	lung:	n/a	n/a
42	CEBPB	chr1:197589760-197589978	HepG2	liver:	n/a	chr1:197589796-197589807
43	CEBPB	chr1:197584401-197584521	K562	blood:	n/a	n/a
44	CEBPB	chr1:197644936-197645212	A549	lung:	n/a	n/a
45	CEBPB	chr1:197636004-197636363	ECC-1	luminal epithelium:	n/a	chr1:197636214-197636225
46	CEBPB	chr1:197644678-197645097	HepG2	liver:	n/a	chr1:197644801-197644814
47	CEBPB	chr1:197589694-197589989	HepG2	liver:	n/a	chr1:197589796-197589807
48	CEBPB	chr1:197636064-197636371	IMR90	lung:	n/a	chr1:197636214-197636225
49	CEBPB	chr1:197573357-197573751	HepG2	liver:	n/a	n/a
50	CEBPB	chr1:197583360-197583673	IMR90	lung:	n/a	chr1:197583520-197583531 chr1:197583519-197583530 chr1:197583521-197583530

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:197564458-197564508	ovcar-3	ovarian:	n/a
2	chr1:197564458-197564508	GM12878	blood:	n/a
3	chr1:197564458-197564508	SK-N-SH_RA	brain:	n/a
4	chr1:197564458-197564508	AG09319	gingival:	n/a
5	chr1:197564458-197564508	LNCaP	prostate:	n/a
6	chr1:197564458-197564508	ProgFib	skin:	n/a
7	chr1:197564458-197564508	GM12892	blood:	n/a
8	chr1:197564458-197564508	BE2_C	brain:	n/a
9	chr1:197564458-197564508	PrEC	prostate:	n/a
10	chr1:197564458-197564508	NHDF-neo	bronchial:	n/a
11	chr1:197564458-197564508	A549	lung:	n/a
12	chr1:197564458-197564508	CMK	blood:	n/a
13	chr1:197564458-197564508	HIPEpiC	eye:	n/a
14	chr1:197564458-197564508	NH-A	brain:	n/a
15	chr1:197564458-197564508	HCF	heart:	n/a
16	chr1:197564458-197564508	BJ	skin:	n/a
17	chr1:197564458-197564508	MCF-7	breast:	n/a
18	chr1:197564458-197564508	GM06990	blood:	n/a
19	chr1:197564458-197564508	H1-hESC	embryonic stem cell:	embryo
20	chr1:197564458-197564508	T-47D	breast:	n/a
21	chr1:197564458-197564508	AG04449	skin:	fetal
22	chr1:197564458-197564508	SAEC	small airway:	n/a
23	chr1:197564458-197564508	Caco-2	colon:	n/a
24	chr1:197564458-197564508	HEEpiC	esophagus:	n/a
25	chr1:197564458-197564508	RPTEC	kidney:	n/a
26	chr1:197564458-197564508	MCF10A-Er-Src	breast:	n/a
27	chr1:197564458-197564508	AG10803	skin:	n/a
28	chr1:197564458-197564508	NT2-D1	testis:	n/a
29	chr1:197564458-197564508	Hela-S3	cervix:	n/a
30	chr1:197564458-197564508	HepG2	liver:	n/a
31	chr1:197564458-197564508	HAEpiC	amniotic membrane:	n/a
32	chr1:197564458-197564508	HRPEpiC	eye:	n/a
33	chr1:197564458-197564508	HRE	kidney:	n/a
34	chr1:197564458-197564508	HMEC	breast:	n/a
35	chr1:197564458-197564508	HUVEC	blood vessel:	n/a
36	chr1:197564458-197564508	SKMC	muscle:	n/a
37	chr1:197564458-197564508	HCPEpiC	choroid plexus:	n/a
38	chr1:197564458-197564508	AG09309	skin:	n/a
39	chr1:197564458-197564508	NHBE	bronchial:	n/a
40	chr1:197564458-197564508	NB4	blood:	n/a
41	chr1:197564458-197564508	HEK293	kidney:	embryo
42	chr1:197564458-197564508	SK-N-MC	brain:	n/a
43	chr1:197564458-197564508	HRCEpiC	kidney:	n/a
44	chr1:197564458-197564508	AG04450	lung:	fetal
45	chr1:197564458-197564508	HPAEpiC	pulmonary alveolar:	n/a
46	chr1:197564458-197564508	HL-60	blood:	n/a
47	chr1:197564458-197564508	K562	blood:	n/a
48	chr1:197564458-197564508	ECC-1	luminal epithelium:	n/a
49	chr1:197564458-197564508	HCT-116	colon:	n/a
50	chr1:197564458-197564508	Hepatocyte	liver:	n/a

(count:100 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:197686066..197687609-chr1:197715987..197718013,2	K562	blood:
2	chr1:197644483..197647407-chr1:197649632..197652293,2	K562	blood:
3	chr1:197628715..197631555-chr1:197637374..197639292,2	MCF-7	breast:
4	chr1:197644483..197647407-chr1:197649632..197652293,2	K562	blood:
5	chr1:197576695..197578475-chr1:197584193..197586595,2	K562	blood:
6	chr1:197584129..197584940-chr1:197893429..197894167,4	MCF-7	breast:
7	chr1:197580036..197581716-chr1:197583304..197586110,2	K562	blood:
8	chr1:197652165..197657690-chr1:197657725..197663370,6	K562	blood:
9	chr1:197661931..197662561-chr1:197836633..197837195,2	MCF-7	breast:
10	chr1:197544507..197547050-chr1:197552662..197555146,2	K562	blood:
11	chr1:197575772..197578195-chr1:197579727..197581675,2	K562	blood:
12	chr1:197572087..197573946-chr1:197577397..197579065,2	K562	blood:
13	chr1:197672380..197673103-chr9:88627531..88628226,2	MCF-7	breast:
14	chr1:197614829..197617182-chr1:197621263..197623211,2	K562	blood:
15	chr1:197686781..197688463-chr1:197690334..197692928,2	K562	blood:
16	chr1:197654756..197656407-chr1:197656576..197658427,2	MCF-7	breast:
17	chr1:197572305..197575157-chr1:197576416..197578887,2	MCF-7	breast:
18	chr1:197683448..197686429-chr1:197686441..197688273,2	K562	blood:
19	chr1:197555789..197558080-chr1:197564045..197566228,2	K562	blood:
20	chr1:197554792..197556654-chr1:197563284..197565204,2	MCF-7	breast:
21	chr1:197610998..197613034-chr1:197615077..197617017,2	MCF-7	breast:
22	chr1:197536074..197537804-chr1:197566047..197569001,2	MCF-7	breast:
23	chr1:197581999..197584839-chr1:197586901..197591270,6	K562	blood:
24	chr1:197653272..197654957-chr1:197663523..197666309,2	K562	blood:
25	chr1:197530060..197532285-chr1:197534124..197535773,2	K562	blood:
26	chr1:197588330..197588863-chr1:197837795..197838473,2	MCF-7	breast:
27	chr1:197654756..197656407-chr1:197656576..197658427,2	MCF-7	breast:
28	chr1:197584245..197585109-chr1:197893726..197894310,2	MCF-7	breast:
29	chr1:197661807..197662710-chr1:197837857..197838661,5	MCF-7	breast:
30	chr1:197525937..197528139-chr1:197530420..197533860,3	K562	blood:
31	chr1:197645784..197649649-chr1:197651122..197654150,3	K562	blood:
32	chr1:197583975..197584970-chr1:197837652..197838487,2	MCF-7	breast:
33	chr1:197601531..197603659-chr1:197870194..197872413,2	K562	blood:
34	chr1:197592165..197594401-chr1:197873722..197876108,2	MCF-7	breast:
35	chr1:197589072..197591210-chr1:197869389..197871668,2	MCF-7	breast:
36	chr1:197662721..197665578-chr1:197743679..197745656,2	MCF-7	breast:
37	chr1:197613381..197615580-chr1:197616479..197618755,2	K562	blood:
38	chr1:197661828..197662611-chr1:197837848..197838634,2	MCF-7	breast:
39	chr1:197544507..197547050-chr1:197552662..197555146,2	K562	blood:
40	chr1:197614829..197617182-chr1:197621263..197623211,2	K562	blood:
41	chr1:197583852..197585003-chr1:197884312..197885694,6	MCF-7	breast:
42	chr1:197652165..197657690-chr1:197657725..197663370,6	K562	blood:
43	chr1:197634768..197637407-chr1:197639641..197641579,2	K562	blood:
44	chr1:197584187..197584859-chr1:197884586..197885167,2	MCF-7	breast:
45	chr1:197570884..197572523-chr1:197584581..197587498,2	K562	blood:
46	chr1:197686076..197688310-chr1:197699419..197702157,2	K562	blood:
47	chr1:197673320..197676128-chr1:197685420..197687485,2	K562	blood:
48	chr1:197588307..197588845-chr1:197837719..197838502,3	MCF-7	breast:
49	chr1:197665354..197667881-chr1:197692912..197694722,2	K562	blood:
50	chr1:197669335..197671287-chr1:197871295..197873038,2	MCF-7	breast:

No data

Variant related genes	Relation type
DENND1B	TF binding region
ENSG00000207139	TF binding region
EEF1A1P32	TF binding region
DENND1B	CpG island
ENSG00000207139	CpG island
EEF1A1P32	CpG island
ENSG00000213047	chromatin interactions
ENSG00000233040	chromatin interactions
ENSG00000207139	chromatin interactions
ENSG00000143355	chromatin interactions
ENSG00000203724	chromatin interactions
ENSG00000213046	chromatin interactions
ENSG00000196850	chromatin interactions
ENSG00000151414	chromatin interactions

Extended variants
information (count: 5253 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:5253 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2111931	chr1:197529218-197529219	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369795868	chr1:197529234-197529235	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12731480	chr1:197529264-197529265	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528246685	chr1:197529281-197529282	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530845908	chr1:197529284-197529285	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546481029	chr1:197529295-197529296	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74971237	chr1:197529341-197529342	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568341156	chr1:197529346-197529347	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542574539	chr1:197529360-197529361	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184499247	chr1:197529451-197529452	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78334484	chr1:197529514-197529515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148159403	chr1:197529535-197529536	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562327630	chr1:197529537-197529538	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552169304	chr1:197529541-197529542	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530973959	chr1:197529549-197529550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12125739	chr1:197529577-197529578	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs11802964	chr1:197529583-197529584	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541569820	chr1:197529586-197529587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553340379	chr1:197529600-197529601	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575070016	chr1:197529628-197529629	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201138005	chr1:197529685-197529686	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528268784	chr1:197529715-197529716	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542576588	chr1:197529728-197529729	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563990766	chr1:197529731-197529732	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190124893	chr1:197529760-197529761	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11807717	chr1:197529773-197529774	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564160960	chr1:197529801-197529802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182307051	chr1:197529825-197529826	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546762887	chr1:197529959-197529960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34019088	chr1:197529971-197529972	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529166447	chr1:197529991-197529992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550433932	chr1:197529993-197529994	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371836938	chr1:197530059-197530060	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568827303	chr1:197530112-197530113	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537008343	chr1:197530178-197530179	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141995013	chr1:197530209-197530210	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370265311	chr1:197530247-197530248	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570924023	chr1:197530268-197530269	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113011236	chr1:197530299-197530300	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536696785	chr1:197530302-197530303	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114073198	chr1:197530330-197530331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189328594	chr1:197530369-197530370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373855095	chr1:197530372-197530373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78674765	chr1:197530373-197530374	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116645817	chr1:197530465-197530466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180884218	chr1:197530548-197530549	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2111932	chr1:197530550-197530551	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569916679	chr1:197530579-197530580	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185271909	chr1:197530580-197530581	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145181405	chr1:197530599-197530600	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	20472715	CNVD
Multiple myeloma	16461302	CNVD
Leukoplakia	24403051	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1382 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197478000-197541200	Weak transcription	Aorta	Aorta
2	chr1:197480000-197535800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:197480200-197541200	Weak transcription	Esophagus	oesophagus
4	chr1:197480200-197541200	Weak transcription	Fetal Thymus	thymus
5	chr1:197480400-197541200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:197481400-197529600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:197487800-197536000	Weak transcription	Fetal Lung	lung
8	chr1:197496200-197532400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:197500600-197529400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:197502200-197531800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:197502400-197534600	Weak transcription	Fetal Intestine Large	intestine
12	chr1:197503200-197541200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:197503600-197535800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:197505400-197532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:197505600-197541000	Weak transcription	Pancreas	Pancrea
16	chr1:197506400-197535800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:197506600-197537600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:197506800-197535600	Weak transcription	Primary B cells from cord blood	blood
19	chr1:197506800-197564600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:197508400-197602400	Weak transcription	Left Ventricle	heart
21	chr1:197508600-197532200	Weak transcription	Primary T cells from cord blood	blood
22	chr1:197509000-197529600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:197509200-197529600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:197509200-197535600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:197509200-197535600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:197509400-197536000	Weak transcription	Liver	Liver
27	chr1:197511400-197535800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:197511800-197535600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:197512000-197529400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:197512800-197531400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:197513800-197535800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:197514200-197535800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:197514400-197535800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr1:197522800-197535600	Weak transcription	Dnd41	blood
35	chr1:197523000-197532400	Weak transcription	Adipose Nuclei	Adipose
36	chr1:197525400-197541200	Weak transcription	Ovary	ovary
37	chr1:197526800-197531800	Weak transcription	NHEK	skin
38	chr1:197526800-197535000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:197526800-197535800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:197526800-197563000	Weak transcription	Osteobl	bone
41	chr1:197527000-197529600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:197527000-197531400	Weak transcription	NH-A	brain
43	chr1:197527000-197535800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:197528200-197531000	Enhancers	Fetal Heart	heart
45	chr1:197528400-197529600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:197528400-197530400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:197528400-197530400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr1:197529200-197533600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:197529400-197532400	Strong transcription	Primary hematopoietic stem cells	blood
50	chr1:197529400-197533000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

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