Variant report

Variant	nsv872960
Chromosome Location	chr1:196621221-196641257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:196630070-196630378	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:196622856-196622973	K562	blood:	n/a	n/a
3	ARID3A	chr1:196620960-196621314	K562	blood:	n/a	n/a
4	BACH1	chr1:196624597-196624690	K562	blood:	n/a	n/a
5	BCL3	chr1:196636272-196636547	GM12878	blood:	n/a	n/a
6	CCNT2	chr1:196620981-196621239	K562	blood:	n/a	n/a
7	CEBPB	chr1:196624752-196625022	Hela-S3	cervix:	n/a	chr1:196624920-196624937
8	CEBPB	chr1:196638297-196638496	HepG2	liver:	n/a	chr1:196638387-196638398
9	CEBPB	chr1:196620599-196621355	IMR90	lung:	n/a	chr1:196621099-196621110
10	CEBPB	chr1:196625432-196625726	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr1:196638258-196638580	IMR90	lung:	n/a	chr1:196638387-196638398
12	CEBPB	chr1:196638262-196638458	K562	blood:	n/a	chr1:196638387-196638398
13	CEBPB	chr1:196638250-196638436	H1-hESC	embryonic stem cell:	n/a	chr1:196638387-196638398
14	CEBPB	chr1:196620590-196621309	Hela-S3	cervix:	n/a	chr1:196621099-196621110
15	CEBPB	chr1:196638229-196638542	A549	lung:	n/a	chr1:196638387-196638398
16	CEBPB	chr1:196621347-196621355	K562	blood:	n/a	n/a
17	CTCF	chr1:196630180-196630330	HPF	lung:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
18	CTCF	chr1:196630120-196630270	HPAF	blood vessel:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
19	CTCF	chr1:196630041-196630435	A549	lung:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
20	CTCF	chr1:196630063-196630342	H1-hESC	embryonic stem cell:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
21	CTCF	chr1:196630180-196630330	NHDF-neo	bronchial:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
22	CTCF	chr1:196630100-196630250	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr1:196630580-196630730	GM12870	blood:	n/a	n/a
24	CTCF	chr1:196630080-196630230	RPTEC	kidney:	n/a	n/a
25	CTCF	chr1:196630140-196630290	AG09319	gingival:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
26	CTCF	chr1:196630120-196630270	HEK293	kidney:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
27	CTCF	chr1:196630140-196630290	MCF-7	breast:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
28	CTCF	chr1:196630112-196630336	LNCaP	prostate:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
29	CTCF	chr1:196630160-196630310	AG04450	lung:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
30	CTCF	chr1:196630089-196630342	ECC-1	luminal epithelium:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
31	CTCF	chr1:196630240-196630390	HA-sp	spinal cord:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630240-196630258 chr1:196630242-196630255
32	CTCF	chr1:196630540-196630690	HVMF	connective:	n/a	n/a
33	CTCF	chr1:196630160-196630310	K562	blood:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
34	CTCF	chr1:196630020-196630290	HFF-Myc	foreskin:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
35	CTCF	chr1:196630220-196630370	HVMF	connective:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
36	CTCF	chr1:196641246-196641296	GM10248	blood:	n/a	n/a
37	CTCF	chr1:196630180-196630330	K562	blood:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
38	CTCF	chr1:196630204-196630253	GM20000	blood:	n/a	chr1:196630245-196630253
39	CTCF	chr1:196630120-196630270	HCPEpiC	choroid plexus:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
40	CTCF	chr1:196630140-196630290	GM12865	blood:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
41	CTCF	chr1:196630140-196630290	WERI-Rb-1	eye:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
42	CTCF	chr1:196633580-196633730	MCF-7	breast:	n/a	n/a
43	CTCF	chr1:196630460-196630610	HRE	kidney:	n/a	n/a
44	CTCF	chr1:196630100-196630250	HRE	kidney:	n/a	n/a
45	CTCF	chr1:196630140-196630290	BJ	skin:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
46	CTCF	chr1:196630520-196630670	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr1:196630161-196630283	GM13976	blood:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
48	CTCF	chr1:196629814-196630796	SK-N-SH	brain:	n/a	chr1:196630245-196630253 chr1:196630241-196630257 chr1:196630235-196630256 chr1:196630240-196630258 chr1:196630242-196630255
49	CTCF	chr1:196630500-196630650	GM12872	blood:	n/a	n/a
50	CTCF	chr1:196630280-196630430	HFF	foreskin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:196624484-196624534	Jurkat	blood:	n/a
2	chr1:196624484-196624534	GM12892	blood:	n/a
3	chr1:196624484-196624534	SKMC	muscle:	n/a
4	chr1:196624484-196624534	AG09309	skin:	n/a
5	chr1:196624484-196624534	PFSK-1	brain:	n/a
6	chr1:196624484-196624534	HCF	heart:	n/a
7	chr1:196624484-196624534	HMEC	breast:	n/a
8	chr1:196624484-196624534	BE2_C	brain:	n/a
9	chr1:196624484-196624534	GM12878	blood:	n/a
10	chr1:196624484-196624534	HCPEpiC	choroid plexus:	n/a
11	chr1:196624484-196624534	SAEC	small airway:	n/a
12	chr1:196624484-196624534	HEEpiC	esophagus:	n/a
13	chr1:196624484-196624534	HIPEpiC	eye:	n/a
14	chr1:196624484-196624534	AG04449	skin:	fetal
15	chr1:196624484-196624534	GM19239	blood:	n/a
16	chr1:196624484-196624534	SK-N-SH	brain:	n/a
17	chr1:196624484-196624534	SK-N-SH_RA	brain:	n/a
18	chr1:196624484-196624534	MCF10A-Er-Src	breast:	n/a
19	chr1:196624484-196624534	GM12891	blood:	n/a
20	chr1:196624484-196624534	AG04450	lung:	fetal
21	chr1:196624484-196624534	LNCaP	prostate:	n/a
22	chr1:196624484-196624534	NHDF-neo	bronchial:	n/a
23	chr1:196624484-196624534	HNPCEpiC	eye:	n/a
24	chr1:196624484-196624534	GM06990	blood:	n/a
25	chr1:196624484-196624534	HL-60	blood:	n/a
26	chr1:196624484-196624534	Caco-2	colon:	n/a
27	chr1:196624484-196624534	HUVEC	blood vessel:	n/a
28	chr1:196624484-196624534	SK-N-MC	brain:	n/a
29	chr1:196624484-196624534	CMK	blood:	n/a
30	chr1:196624484-196624534	NHBE	bronchial:	n/a
31	chr1:196624484-196624534	U87	brain:	n/a
32	chr1:196624484-196624534	Hela-S3	cervix:	n/a
33	chr1:196624484-196624534	MCF-7	breast:	n/a
34	chr1:196624484-196624534	AoSMC	blood vessel:	n/a
35	chr1:196624484-196624534	AG10803	skin:	n/a
36	chr1:196624484-196624534	HRE	kidney:	n/a
37	chr1:196624484-196624534	A549	lung:	n/a
38	chr1:196624484-196624534	RPTEC	kidney:	n/a
39	chr1:196624484-196624534	HCM	heart:	n/a
40	chr1:196624484-196624534	BJ	skin:	n/a
41	chr1:196624484-196624534	HEK293	kidney:	embryo
42	chr1:196624484-196624534	HRCEpiC	kidney:	n/a
43	chr1:196624484-196624534	ECC-1	luminal epithelium:	n/a
44	chr1:196624484-196624534	HAEpiC	amniotic membrane:	n/a
45	chr1:196624484-196624534	HRPEpiC	eye:	n/a
46	chr1:196624484-196624534	HepG2	liver:	n/a
47	chr1:196624484-196624534	ovcar-3	ovarian:	n/a
48	chr1:196624484-196624534	HCT-116	colon:	n/a
49	chr1:196624484-196624534	PANC-1	pancreas:	n/a
50	chr1:196624484-196624534	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:196286771..196287805-chr1:196629870..196630714,4	K562	blood:
2	chr1:196446311..196446957-chr1:196629995..196630648,2	MCF-7	breast:
3	chr1:196290352..196291333-chr1:196629770..196630748,2	MCF-7	breast:
4	chr1:196629812..196630524-chr1:196701384..196702319,3	MCF-7	breast:
5	chr1:196621426..196625290-chr1:196639780..196642382,3	K562	blood:
6	chr1:196625626..196628113-chr1:196631546..196633996,2	K562	blood:
7	chr1:196478927..196481406-chr1:196622982..196624630,2	K562	blood:
8	chr1:196577316..196579405-chr1:196622381..196624007,2	K562	blood:
9	chr1:196632296..196634609-chr1:196985462..196987948,2	K562	blood:
10	chr1:196632196..196633107-chr10:26528370..26528947,2	MCF-7	breast:
11	chr1:196618602..196620905-chr1:196624002..196626095,2	K562	blood:
12	chr1:196581960..196583558-chr1:196622079..196624943,2	K562	blood:
13	chr1:196286468..196288000-chr1:196629744..196630751,11	MCF-7	breast:
14	chr1:196460578..196463457-chr1:196623821..196625858,2	K562	blood:
15	chr1:196324467..196324970-chr1:196629741..196630381,2	MCF-7	breast:
16	chr1:196621426..196625290-chr1:196639780..196642382,3	K562	blood:
17	chr1:196461764..196464743-chr1:196621639..196623886,2	K562	blood:
18	chr1:196625626..196628113-chr1:196631546..196633996,2	K562	blood:
19	chr1:196286732..196287389-chr1:196629899..196630582,2	MCF-7	breast:

Variant related genes	Relation type
CFH	TF binding region
CFH	CpG island
ENSG00000162687	chromatin interactions

Extended variants
information (count: 744 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:744 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35120533	chr1:196621221-196621222	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368043607	chr1:196621222-196621223	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184773114	chr1:196621229-196621230	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142266551	chr1:196621252-196621253	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139254423	chr1:196621254-196621255	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368761679	chr1:196621325-196621326	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554002327	chr1:196621326-196621327	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201708081	chr1:196621338-196621339	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566045506	chr1:196621422-196621423	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536417750	chr1:196621425-196621426	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189174054	chr1:196621428-196621429	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576607833	chr1:196621438-196621439	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs55747351	chr1:196621455-196621456	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559057684	chr1:196621462-196621463	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528577160	chr1:196621473-196621474	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577265282	chr1:196621476-196621477	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs520992	chr1:196621509-196621510	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560454237	chr1:196621511-196621512	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145533255	chr1:196621538-196621539	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs480266	chr1:196621544-196621545	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs56181646	chr1:196621559-196621560	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529546645	chr1:196621560-196621561	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560911345	chr1:196621586-196621587	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182155903	chr1:196621589-196621590	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549563485	chr1:196621647-196621648	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138143818	chr1:196621674-196621675	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531946816	chr1:196621721-196621722	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373970939	chr1:196621733-196621734	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141918508	chr1:196621757-196621758	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565362173	chr1:196621761-196621762	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536527906	chr1:196621825-196621826	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs16840379	chr1:196621885-196621886	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7526622	chr1:196621892-196621893	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537657047	chr1:196621949-196621950	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558743889	chr1:196622011-196622012	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs540060004	chr1:196622039-196622040	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs17573867	chr1:196622041-196622042	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541409922	chr1:196622042-196622043	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs143652623	chr1:196622057-196622058	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs148097104	chr1:196622097-196622098	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs542554472	chr1:196622118-196622119	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs561237555	chr1:196622119-196622120	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576116148	chr1:196622123-196622124	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs375184868	chr1:196622134-196622135	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs543618578	chr1:196622140-196622141	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs566600808	chr1:196622156-196622157	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs564608285	chr1:196622180-196622181	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs186747692	chr1:196622198-196622199	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs191536085	chr1:196622229-196622230	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs16840381	chr1:196622340-196622341	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	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
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
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
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
primary effusion lymphomas	17116491	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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196619000-196621400	Active TSS	Hela-S3	cervix
2	chr1:196619400-196621400	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr1:196619800-196623800	Active TSS	K562	blood
4	chr1:196619800-196625000	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr1:196620000-196623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:196620400-196623800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr1:196620400-196623800	Active TSS	NHDF-Ad	bronchial
8	chr1:196620400-196626000	Active TSS	Liver	Liver
9	chr1:196620600-196621400	Active TSS	Primary T cells fromperipheralblood	blood
10	chr1:196620600-196621400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:196620600-196621400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:196620600-196621400	Active TSS	Ovary	ovary
13	chr1:196620600-196621400	Active TSS	Psoas Muscle	Psoas
14	chr1:196620600-196621400	Active TSS	Right Atrium	heart
15	chr1:196620600-196621400	Active TSS	HSMMtube	muscle
16	chr1:196620600-196622200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:196620600-196622600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:196620600-196623000	Active TSS	Fetal Lung	lung
19	chr1:196620600-196623600	Active TSS	Fetal Muscle Leg	muscle
20	chr1:196620600-196623800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:196620600-196623800	Active TSS	NHLF	lung
22	chr1:196620600-196624600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:196620800-196621400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr1:196620800-196621400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:196620800-196621400	Active TSS	Duodenum Mucosa	Duodenum
26	chr1:196620800-196621400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr1:196620800-196621400	Active TSS	Fetal Stomach	stomach
28	chr1:196620800-196621400	Active TSS	Right Ventricle	heart
29	chr1:196620800-196621400	Flanking Active TSS	HMEC	breast
30	chr1:196620800-196621400	Flanking Active TSS	HUVEC	blood vessel
31	chr1:196620800-196622000	Active TSS	Fetal Kidney	kidney
32	chr1:196620800-196622200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:196620800-196622200	Active TSS	Fetal Intestine Large	intestine
34	chr1:196620800-196623200	Active TSS	Stomach Smooth Muscle	stomach
35	chr1:196620800-196623400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:196620800-196623600	Active TSS	HSMM	muscle
37	chr1:196620800-196625000	Active TSS	Adipose Nuclei	Adipose
38	chr1:196621000-196621400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr1:196621000-196621400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:196621000-196621400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:196621000-196621400	Active TSS	Brain Anterior Caudate	brain
42	chr1:196621000-196621400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr1:196621000-196621400	Flanking Active TSS	A549	lung
44	chr1:196621000-196622000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:196621000-196622200	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr1:196621000-196622400	Active TSS	NH-A	brain
47	chr1:196621000-196622800	Active TSS	Dnd41	blood
48	chr1:196621000-196623400	Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:196621000-196623600	Active TSS	Osteobl	bone
50	chr1:196621000-196625000	Active TSS	Rectal Mucosa Donor 31	rectum

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