Variant report

Variant	nsv872595
Chromosome Location	chr1:186646005-186649485
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	ATF3	chr1:186649257-186649868	A549	lung:	n/a	n/a
2	ATF3	chr1:186649301-186649931	A549	lung:	n/a	n/a
3	BACH1	chr1:186649246-186649635	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr1:186649013-186650057	A549	lung:	n/a	chr1:186650009-186650022 chr1:186650012-186650021 chr1:186650006-186650019 chr1:186649718-186649727 chr1:186650010-186650023 chr1:186650009-186650018 chr1:186649344-186649357
5	BCL3	chr1:186649029-186650035	A549	lung:	n/a	chr1:186650009-186650022 chr1:186650012-186650021 chr1:186650006-186650019 chr1:186649718-186649727 chr1:186650010-186650023 chr1:186650009-186650018 chr1:186649344-186649357
6	BRCA1	chr1:186649014-186649898	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr1:186649095-186649898	HCT-116	colon:	n/a	n/a
8	CEBPB	chr1:186649433-186649949	IMR90	lung:	n/a	chr1:186649680-186649689 chr1:186649678-186649691 chr1:186649680-186649689 chr1:186649680-186649689
9	CEBPB	chr1:186649420-186650142	A549	lung:	n/a	chr1:186649680-186649689 chr1:186649678-186649691 chr1:186649680-186649689 chr1:186649680-186649689
10	CEBPB	chr1:186649209-186649865	H1-hESC	embryonic stem cell:	n/a	chr1:186649680-186649689 chr1:186649678-186649691 chr1:186649680-186649689 chr1:186649680-186649689
11	CEBPB	chr1:186649165-186649952	HCT-116	colon:	n/a	chr1:186649680-186649689 chr1:186649678-186649691 chr1:186649680-186649689 chr1:186649680-186649689
12	CEBPB	chr1:186649223-186650014	ECC-1	luminal epithelium:	n/a	chr1:186649680-186649689 chr1:186649678-186649691 chr1:186649680-186649689 chr1:186649680-186649689
13	CEBPB	chr1:186649370-186649884	MCF-7	breast:	n/a	chr1:186649680-186649689 chr1:186649678-186649691 chr1:186649680-186649689 chr1:186649680-186649689
14	CEBPB	chr1:186649446-186649905	ECC-1	luminal epithelium:	n/a	chr1:186649680-186649689 chr1:186649678-186649691 chr1:186649680-186649689 chr1:186649680-186649689
15	CEBPB	chr1:186649254-186650099	A549	lung:	n/a	chr1:186649680-186649689 chr1:186649678-186649691 chr1:186649680-186649689 chr1:186649680-186649689
16	CEBPB	chr1:186649073-186650354	Hela-S3	cervix:	n/a	chr1:186649680-186649689 chr1:186649678-186649691 chr1:186649680-186649689 chr1:186649680-186649689
17	CEBPB	chr1:186649387-186649938	A549	lung:	n/a	chr1:186649680-186649689 chr1:186649678-186649691 chr1:186649680-186649689 chr1:186649680-186649689
18	CHD2	chr1:186649176-186650578	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr1:186649308-186649674	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chr1:186649218-186649743	H1-hESC	embryonic stem cell:	n/a	n/a
21	CREB1	chr1:186649314-186649816	GM12878	blood:	n/a	n/a
22	CREB1	chr1:186649354-186649914	A549	lung:	n/a	n/a
23	CREB1	chr1:186649244-186649965	A549	lung:	n/a	n/a
24	CREB1	chr1:186649137-186649803	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTBP2	chr1:186649204-186650086	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr1:186649355-186649598	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr1:186649340-186649490	GM12878	blood:	n/a	n/a
28	CTCF	chr1:186649440-186649590	HL-60	blood:	n/a	n/a
29	CTCF	chr1:186649440-186649590	NHLF	lung:	n/a	n/a
30	CTCF	chr1:186649360-186649510	GM12869	blood:	n/a	n/a
31	CTCF	chr1:186649460-186649610	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr1:186649383-186649517	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr1:186649480-186649630	HAc	cerebellar:	n/a	n/a
34	CTCF	chr1:186648686-186651449	A549	lung:	n/a	chr1:186651134-186651142
35	CTCF	chr1:186649440-186649590	HCT-116	colon:	n/a	n/a
36	CTCF	chr1:186649460-186649610	MCF-7	breast:	n/a	n/a
37	CTCF	chr1:186649250-186649634	MCF-7	breast:	n/a	n/a
38	CTCF	chr1:186649289-186649559	T-47D	breast:	n/a	n/a
39	CTCF	chr1:186649335-186649552	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr1:186649480-186649630	AG04450	lung:	n/a	n/a
41	CTCF	chr1:186649207-186649815	IMR90	lung:	n/a	n/a
42	CTCF	chr1:186649370-186649443	GM20000	blood:	n/a	n/a
43	CTCF	chr1:186649298-186649614	GM13976	blood:	n/a	n/a
44	CTCF	chr1:186649420-186649570	GM12869	blood:	n/a	n/a
45	CTCF	chr1:186649420-186649570	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr1:186649420-186649570	GM06990	blood:	n/a	n/a
47	CTCF	chr1:186649378-186649619	Medullo	brain:	n/a	n/a
48	CTCF	chr1:186649227-186649643	A549	lung:	n/a	n/a
49	CTCF	chr1:186649400-186649550	AG04449	skin:	n/a	n/a
50	CTCF	chr1:186649440-186649590	SAEC	small airway:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:186649253-186649303	AG10803	skin:	n/a
2	chr1:186649330-186649380	GM12892	blood:	n/a
3	chr1:186649253-186649303	HL-60	blood:	n/a
4	chr1:186649330-186649380	ECC-1	luminal epithelium:	n/a
5	chr1:186649153-186649203	BJ	skin:	n/a
6	chr1:186646027-186646077	MCF-7	breast:	n/a
7	chr1:186649253-186649303	HMEC	breast:	n/a
8	chr1:186649354-186649404	HCPEpiC	choroid plexus:	n/a
9	chr1:186649354-186649404	SK-N-SH	brain:	n/a
10	chr1:186649153-186649203	ovcar-3	ovarian:	n/a
11	chr1:186646027-186646077	CMK	blood:	n/a
12	chr1:186649330-186649380	HCF	heart:	n/a
13	chr1:186649153-186649203	HCM	heart:	n/a
14	chr1:186649153-186649203	H1-hESC	embryonic stem cell:	embryo
15	chr1:186649253-186649303	Caco-2	colon:	n/a
16	chr1:186646027-186646077	GM12891	blood:	n/a
17	chr1:186649354-186649404	K562	blood:	n/a
18	chr1:186649354-186649404	HPAEpiC	pulmonary alveolar:	n/a
19	chr1:186646027-186646077	SK-N-MC	brain:	n/a
20	chr1:186649330-186649380	SK-N-SH_RA	brain:	n/a
21	chr1:186646027-186646077	GM12878	blood:	n/a
22	chr1:186649153-186649203	SKMC	muscle:	n/a
23	chr1:186649253-186649303	BJ	skin:	n/a
24	chr1:186649330-186649380	Hela-S3	cervix:	n/a
25	chr1:186649330-186649380	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:186646027-186646077	NHDF-neo	bronchial:	n/a
27	chr1:186649354-186649404	T-47D	breast:	n/a
28	chr1:186646027-186646077	HRPEpiC	eye:	n/a
29	chr1:186649330-186649380	NHBE	bronchial:	n/a
30	chr1:186649354-186649404	NHDF-neo	bronchial:	n/a
31	chr1:186649153-186649203	LNCaP	prostate:	n/a
32	chr1:186649354-186649404	ProgFib	skin:	n/a
33	chr1:186649153-186649203	NB4	blood:	n/a
34	chr1:186649253-186649303	ProgFib	skin:	n/a
35	chr1:186649253-186649303	BE2_C	brain:	n/a
36	chr1:186649153-186649203	SK-N-SH_RA	brain:	n/a
37	chr1:186649253-186649303	AG04450	lung:	fetal
38	chr1:186649253-186649303	ovcar-3	ovarian:	n/a
39	chr1:186646027-186646077	HAEpiC	amniotic membrane:	n/a
40	chr1:186646027-186646077	SKMC	muscle:	n/a
41	chr1:186649153-186649203	HMEC	breast:	n/a
42	chr1:186649330-186649380	AG04450	lung:	fetal
43	chr1:186649153-186649203	HUVEC	blood vessel:	n/a
44	chr1:186649354-186649404	MCF-7	breast:	n/a
45	chr1:186649253-186649303	Hela-S3	cervix:	n/a
46	chr1:186649354-186649404	HUVEC	blood vessel:	n/a
47	chr1:186649354-186649404	HAEpiC	amniotic membrane:	n/a
48	chr1:186649354-186649404	HCM	heart:	n/a
49	chr1:186649330-186649380	RPTEC	kidney:	n/a
50	chr1:186649253-186649303	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:186649372..186649943-chr6:111136234..111137226,2	Hela-S3	cervix:
2	chr1:186646968..186647478-chr19:12903470..12904362,2	Hela-S3	cervix:
3	chr1:186641962..186644518-chr1:186645424..186648177,2	MCF-7	breast:
4	chr1:186649238..186650022-chr6:27860827..27861541,2	Hela-S3	cervix:
5	chr1:186649431..186649985-chr16:2014442..2015162,2	Hela-S3	cervix:
6	chr1:186648045..186648752-chr5:44808698..44809493,2	Hela-S3	cervix:
7	chr1:186648853..186649464-chr12:6875294..6876196,2	Hela-S3	cervix:
8	chr1:186649389..186649931-chr12:46766242..46766816,2	Hela-S3	cervix:

Variant related genes	Relation type
PTGS2	TF binding region
ENSG00000273129	TF binding region
PTGS2	CpG island
ENSG00000273129	CpG island
ENSG00000112996	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000255198	chromatin interactions
ENSG00000251141	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000159335	chromatin interactions
ENSG00000155111	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000140988	chromatin interactions

Extended variants
information (count: 199 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3218622	chr1:186646005-186646006	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558977656	chr1:186646018-186646019	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs200000802	chr1:186646028-186646029	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
4	rs538414051	chr1:186646033-186646034	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
5	rs200743316	chr1:186646058-186646059	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
6	rs574947041	chr1:186646067-186646068	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
7	rs200791582	chr1:186646083-186646084	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs201931759	chr1:186646086-186646087	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs574948723	chr1:186646098-186646099	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs542348215	chr1:186646166-186646167	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs20433	chr1:186646254-186646255	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs572342120	chr1:186646289-186646290	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs20432	chr1:186646323-186646324	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564199855	chr1:186646324-186646325	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs531653498	chr1:186646326-186646327	Weak transcription Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs149054401	chr1:186646407-186646408	Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs191784606	chr1:186646409-186646410	Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs16825745	chr1:186646440-186646441	Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs528907538	chr1:186646451-186646452	Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs547085837	chr1:186646474-186646475	Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs4648274	chr1:186646480-186646481	Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs531889788	chr1:186646491-186646492	Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs183478129	chr1:186646503-186646504	Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs16825748	chr1:186646544-186646545	Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs571021619	chr1:186646560-186646561	Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs4648273	chr1:186646578-186646579	Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs4648272	chr1:186646587-186646588	Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs186381971	chr1:186646590-186646591	Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs11567825	chr1:186646594-186646595	Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs66485939	chr1:186646596-186646597	Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs536094537	chr1:186646667-186646668	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs529660282	chr1:186646691-186646692	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs4648271	chr1:186646693-186646694	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs200504288	chr1:186646734-186646735	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs113471898	chr1:186646744-186646745	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs191294326	chr1:186646746-186646747	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs375719557	chr1:186646762-186646763	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs20430	chr1:186646773-186646774	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs545853508	chr1:186646777-186646778	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs140664948	chr1:186646784-186646785	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs201592586	chr1:186646793-186646794	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs200311544	chr1:186646796-186646797	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs141500962	chr1:186646815-186646816	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs372267158	chr1:186646820-186646821	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs199735403	chr1:186646823-186646824	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs200316914	chr1:186646844-186646845	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs201493026	chr1:186646862-186646863	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs148479703	chr1:186646883-186646884	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs535541309	chr1:186646887-186646888	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs199513587	chr1:186646906-186646907	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186632800-186649000	Weak transcription	Fetal Lung	lung
2	chr1:186639400-186648400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:186640200-186646600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:186640200-186647800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:186640200-186647800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:186640800-186647800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:186640800-186648000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:186640800-186648200	Weak transcription	Brain Angular Gyrus	brain
9	chr1:186640800-186649200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:186641400-186647600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:186641600-186647400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:186641600-186648400	Weak transcription	NHLF	lung
13	chr1:186641800-186646400	Strong transcription	Hela-S3	cervix
14	chr1:186641800-186648400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:186642000-186646800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:186642200-186647000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:186642200-186647800	Strong transcription	HMEC	breast
18	chr1:186642200-186649200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:186642200-186649200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:186642400-186649200	Weak transcription	Gastric	stomach
21	chr1:186642600-186648200	Weak transcription	Fetal Intestine Small	intestine
22	chr1:186642800-186647800	Strong transcription	NHEK	skin
23	chr1:186643000-186647800	Weak transcription	Fetal Intestine Large	intestine
24	chr1:186643400-186646400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:186643400-186647000	Strong transcription	A549	lung
26	chr1:186643600-186646800	Strong transcription	Stomach Smooth Muscle	stomach
27	chr1:186643600-186647000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:186644000-186647600	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:186644000-186648400	Weak transcription	Adipose Nuclei	Adipose
30	chr1:186644200-186649000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:186644200-186649000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:186644200-186649000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:186644200-186649200	Weak transcription	Lung	lung
34	chr1:186644400-186648400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:186644400-186649000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:186644400-186649200	Weak transcription	Aorta	Aorta
37	chr1:186644600-186648200	Weak transcription	Fetal Stomach	stomach
38	chr1:186644600-186648800	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:186644600-186649000	Weak transcription	Ovary	ovary
40	chr1:186645200-186648000	Strong transcription	Osteobl	bone
41	chr1:186645400-186646800	Genic enhancers	HUVEC	blood vessel
42	chr1:186645800-186646200	Weak transcription	Esophagus	oesophagus
43	chr1:186645800-186646200	Weak transcription	Left Ventricle	heart
44	chr1:186645800-186646400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:186645800-186646600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:186645800-186647800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:186645800-186647800	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:186645800-186648400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:186645800-186649200	Weak transcription	Spleen	Spleen
50	chr1:186646000-186646800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links