Variant report

Variant	esv3420967
Chromosome Location	chr1:178993954-178996502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:604)
CpG islands
(count:855)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:604 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:178994831-178995035	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:178996432-178996927	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:178995385-178995490	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:178995494-178995498	K562	blood:	n/a	n/a
5	ARID3A	chr1:178995781-178996111	HepG2	liver:	n/a	n/a
6	ATF2	chr1:178994609-178995003	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr1:178995284-178996016	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr1:178994351-178996123	K562	blood:	n/a	chr1:178994889-178994905 chr1:178994815-178994831
9	BHLHE40	chr1:178994683-178995864	HepG2	liver:	n/a	chr1:178994889-178994905 chr1:178994815-178994831
10	BHLHE40	chr1:178994694-178996184	GM12878	blood:	n/a	chr1:178994889-178994905 chr1:178994815-178994831
11	BRCA1	chr1:178994614-178995110	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr1:178995480-178995539	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr1:178995767-178995838	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr1:178996077-178996142	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr1:178995587-178995598	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr1:178993860-178995888	K562	blood:	n/a	n/a
17	CBX3	chr1:178994049-178994888	K562	blood:	n/a	n/a
18	CCNT2	chr1:178994503-178995952	K562	blood:	n/a	n/a
19	CEBPB	chr1:178995390-178996294	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr1:178994718-178995062	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr1:178995451-178995500	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr1:178995442-178995451	HepG2	liver:	n/a	n/a
23	CEBPD	chr1:178995643-178996251	K562	blood:	n/a	n/a
24	CEBPD	chr1:178994898-178995150	HepG2	liver:	n/a	n/a
25	CEBPD	chr1:178994705-178995593	HepG2	liver:	n/a	n/a
26	CHD1	chr1:178994547-178995789	GM12878	blood:	n/a	n/a
27	CHD1	chr1:178994317-178996876	IMR90	lung:	n/a	n/a
28	CHD1	chr1:178994845-178995080	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr1:178994697-178995108	GM12878	blood:	n/a	n/a
30	CHD2	chr1:178995319-178996212	GM12878	blood:	n/a	n/a
31	CHD2	chr1:178995329-178995713	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr1:178994670-178995996	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr1:178995297-178995718	HepG2	liver:	n/a	n/a
34	CHD2	chr1:178994676-178994999	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr1:178994749-178995046	HepG2	liver:	n/a	n/a
36	CHD2	chr1:178994420-178995923	K562	blood:	n/a	n/a
37	CREB1	chr1:178994620-178995860	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr1:178995172-178995860	GM12878	blood:	n/a	n/a
39	CREB1	chr1:178994612-178996093	HepG2	liver:	n/a	n/a
40	CREB1	chr1:178994673-178995969	A549	lung:	n/a	n/a
41	CREB1	chr1:178994639-178995980	K562	blood:	n/a	n/a
42	CREB1	chr1:178994707-178996115	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr1:178994839-178995143	ECC-1	luminal epithelium:	n/a	n/a
44	CREB1	chr1:178994522-178996430	K562	blood:	n/a	n/a
45	CREB1	chr1:178994655-178995169	GM12878	blood:	n/a	n/a
46	CTBP2	chr1:178995219-178995876	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr1:178994720-178994870	HVMF	connective:	n/a	n/a
48	CTCF	chr1:178995580-178995730	BJ	skin:	n/a	n/a
49	CTCF	chr1:178994835-178994930	Kidney_OC	kidney:	n/a	chr1:178994908-178994921
50	CTCF	chr1:178995580-178995730	SK-N-SH_RA	brain:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:178994243-178994293	IMR90	lung:	fetal
2	chr1:178994243-178994293	IMR90	lung:	fetal
3	chr1:178994355-178994405	PANC-1	pancreas:	n/a
4	chr1:178994355-178994405	GM12892	blood:	n/a
5	chr1:178995597-178995647	HPAEpiC	pulmonary alveolar:	n/a
6	chr1:178995861-178995911	GM06990	blood:	n/a
7	chr1:178994301-178994351	K562	blood:	n/a
8	chr1:178994942-178994992	NB4	blood:	n/a
9	chr1:178995597-178995647	ProgFib	skin:	n/a
10	chr1:178994243-178994293	NT2-D1	testis:	n/a
11	chr1:178995597-178995647	AG09319	gingival:	n/a
12	chr1:178994355-178994405	U87	brain:	n/a
13	chr1:178995540-178995590	CMK	blood:	n/a
14	chr1:178994330-178994380	PrEC	prostate:	n/a
15	chr1:178995099-178995149	AoSMC	blood vessel:	n/a
16	chr1:178995540-178995590	ovcar-3	ovarian:	n/a
17	chr1:178995107-178995157	NB4	blood:	n/a
18	chr1:178994930-178994980	SK-N-SH_RA	brain:	n/a
19	chr1:178995082-178995132	AG04450	lung:	fetal
20	chr1:178994330-178994380	HUVEC	blood vessel:	n/a
21	chr1:178995597-178995647	PFSK-1	brain:	n/a
22	chr1:178995099-178995149	HEEpiC	esophagus:	n/a
23	chr1:178996021-178996071	GM12892	blood:	n/a
24	chr1:178995861-178995911	HCM	heart:	n/a
25	chr1:178994301-178994351	HEEpiC	esophagus:	n/a
26	chr1:178994930-178994980	GM12892	blood:	n/a
27	chr1:178994330-178994380	GM12892	blood:	n/a
28	chr1:178995597-178995647	PANC-1	pancreas:	n/a
29	chr1:178995861-178995911	H1-hESC	embryonic stem cell:	embryo
30	chr1:178994930-178994980	GM19239	blood:	n/a
31	chr1:178994355-178994405	A549	lung:	n/a
32	chr1:178995099-178995149	LNCaP	prostate:	n/a
33	chr1:178995133-178995183	AoSMC	blood vessel:	n/a
34	chr1:178994355-178994405	BE2_C	brain:	n/a
35	chr1:178994930-178994980	IMR90	lung:	fetal
36	chr1:178994930-178994980	Caco-2	colon:	n/a
37	chr1:178995107-178995157	Caco-2	colon:	n/a
38	chr1:178994301-178994351	IMR90	lung:	fetal
39	chr1:178995099-178995149	HRE	kidney:	n/a
40	chr1:178994243-178994293	H1-hESC	embryonic stem cell:	embryo
41	chr1:178994930-178994980	NHBE	bronchial:	n/a
42	chr1:178995082-178995132	GM12878	blood:	n/a
43	chr1:178994243-178994293	AG04449	skin:	fetal
44	chr1:178994301-178994351	Caco-2	colon:	n/a
45	chr1:178996021-178996071	AG09309	skin:	n/a
46	chr1:178996021-178996071	HAEpiC	amniotic membrane:	n/a
47	chr1:178996021-178996071	BE2_C	brain:	n/a
48	chr1:178995099-178995149	HRCEpiC	kidney:	n/a
49	chr1:178994355-178994405	AG09319	gingival:	n/a
50	chr1:178996021-178996071	SAEC	small airway:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:178995149..178995754-chr13:31039556..31040487,2	Hela-S3	cervix:
2	chr1:178693031..178696022-chr1:178993845..178996341,3	MCF-7	breast:
3	chr1:178994647..178996585-chr1:179051040..179053373,3	MCF-7	breast:
4	chr1:178995239..178996084-chr15:59949313..59949827,2	Hela-S3	cervix:
5	chr1:178993182..178999783-chr1:179045102..179052535,14	MCF-7	breast:
6	chr1:178995255..178995818-chr15:40986799..40987776,2	Hela-S3	cervix:
7	chr1:155163254..155164121-chr1:178995131..178996078,2	Hela-S3	cervix:
8	chr1:178991905..178994151-chr3:61854506..61856753,2	MCF-7	breast:
9	chr1:178995001..178995511-chr2:85766102..85766908,2	Hela-S3	cervix:
10	chr1:178994809..178995971-chr5:179049840..179051236,5	Hela-S3	cervix:
11	chr1:178510389..178513760-chr1:178993228..178995789,4	MCF-7	breast:
12	chr1:178994859..178995500-chr17:56084039..56084675,2	Hela-S3	cervix:
13	chr1:178995068..178997335-chr1:179038354..179040451,4	K562	blood:
14	chr1:178994916..178995510-chr8:37619961..37620638,2	Hela-S3	cervix:
15	chr1:68962351..68962919-chr1:178994803..178995407,2	Hela-S3	cervix:
16	chr1:178991699..178994582-chr1:179050061..179052704,4	MCF-7	breast:
17	chr1:178994037..178996559-chr6:26216842..26218993,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM20B	TF binding region
FAM20B	CpG island
ENSG00000187990	chromatin interactions
ENSG00000186283	chromatin interactions
ENSG00000168906	chromatin interactions
ENSG00000136450	chromatin interactions
ENSG00000273062	chromatin interactions
ENSG00000024526	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000147471	chromatin interactions
ENSG00000245849	chromatin interactions
ENSG00000213057	chromatin interactions
ENSG00000140307	chromatin interactions
ENSG00000184909	chromatin interactions
ENSG00000189403	chromatin interactions
ENSG00000116191	chromatin interactions
ENSG00000234264	chromatin interactions
ENSG00000051180	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185925820	chr1:178994019-178994020	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs556184951	chr1:178994029-178994030	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs190642143	chr1:178994049-178994050	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs541810671	chr1:178994050-178994051	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs76894687	chr1:178994139-178994140	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs183842883	chr1:178994202-178994203	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs187631661	chr1:178994205-178994206	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs190705642	chr1:178994206-178994207	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs75490797	chr1:178994251-178994252	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs552414888	chr1:178994302-178994303	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs56115452	chr1:178994312-178994313	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs182711150	chr1:178994330-178994331	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs16853551	chr1:178994534-178994535	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572277366	chr1:178994604-178994605	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs548580562	chr1:178994627-178994628	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs373576764	chr1:178994634-178994635	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs568396576	chr1:178994638-178994639	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs3813638	chr1:178994644-178994645	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs371476628	chr1:178994654-178994655	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs551141904	chr1:178994658-178994659	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs570650240	chr1:178994661-178994662	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs186716206	chr1:178994690-178994691	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs75317895	chr1:178994764-178994765	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs573111558	chr1:178994776-178994777	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs189956335	chr1:178994785-178994786	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs376867292	chr1:178994805-178994806	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs535070623	chr1:178994850-178994851	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs182537901	chr1:178994851-178994852	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs575156682	chr1:178994864-178994865	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs148883472	chr1:178994886-178994887	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs187357095	chr1:178994889-178994890	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs563850358	chr1:178994901-178994902	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs576978429	chr1:178994904-178994905	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs12755922	chr1:178994921-178994922	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs12754772	chr1:178994972-178994973	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs142415222	chr1:178994980-178994981	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs559586165	chr1:178995078-178995079	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs555177568	chr1:178995114-178995115	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs193196190	chr1:178995283-178995284	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
40	rs548629159	chr1:178995382-178995383	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs563302858	chr1:178995418-178995419	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs67498652	chr1:178995500-178995501	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs61823786	chr1:178995521-178995522	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs551054201	chr1:178995524-178995525	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs570959267	chr1:178995525-178995526	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs539614530	chr1:178995602-178995603	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs546829918	chr1:178995611-178995612	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs566581792	chr1:178995612-178995613	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs568660215	chr1:178995670-178995671	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs535715206	chr1:178995706-178995707	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Retinoblastoma	19183342	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
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:178986400-178994200	Weak transcription	Right Atrium	heart
2	chr1:178986400-178994200	Weak transcription	Spleen	Spleen
3	chr1:178986400-178994400	Weak transcription	Lung	lung
4	chr1:178986600-178994000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:178986800-178994200	Weak transcription	Liver	Liver
6	chr1:178987200-178994200	Weak transcription	Fetal Lung	lung
7	chr1:178987400-178994000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:178987400-178994200	Weak transcription	Left Ventricle	heart
9	chr1:178987400-178994400	Weak transcription	Fetal Stomach	stomach
10	chr1:178989200-178994600	Weak transcription	Esophagus	oesophagus
11	chr1:178989600-178994200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:178989600-178994600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:178989800-178994200	Weak transcription	Stomach Mucosa	stomach
14	chr1:178991200-178994200	Weak transcription	Aorta	Aorta
15	chr1:178991400-178994400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:178991400-178994600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:178991600-178994000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:178991600-178994000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:178991600-178994000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:178991600-178994000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:178991600-178994000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:178991600-178994200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:178991600-178994200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:178991600-178994200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:178991600-178994200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:178991600-178994200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:178991600-178994200	Weak transcription	Adipose Nuclei	Adipose
28	chr1:178991600-178994200	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:178991600-178994200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:178991600-178994200	Weak transcription	Psoas Muscle	Psoas
31	chr1:178991600-178994200	Weak transcription	A549	lung
32	chr1:178991600-178994200	Weak transcription	HSMM	muscle
33	chr1:178991600-178994200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr1:178991600-178994400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:178991600-178994400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:178991600-178994400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:178991600-178994400	Weak transcription	Ovary	ovary
38	chr1:178991600-178994400	Weak transcription	HSMMtube	muscle
39	chr1:178991800-178994200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:178991800-178994200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:178991800-178994200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:178991800-178994200	Weak transcription	Brain Angular Gyrus	brain
43	chr1:178991800-178994200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:178991800-178994200	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:178991800-178994200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:178991800-178994400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:178991800-178994400	Weak transcription	Brain Anterior Caudate	brain
48	chr1:178991800-178994400	Weak transcription	Fetal Brain Male	brain
49	chr1:178991800-178994400	Weak transcription	Fetal Heart	heart
50	chr1:178992000-178994200	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

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