Variant report

Variant	nsv1003962
Chromosome Location	chr1:246592234-246624330
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	chr1:246614088-246614383	HepG2	liver:	n/a	chr1:246614110-246614126
2	ARID3A	chr1:246614048-246614417	K562	blood:	n/a	chr1:246614110-246614126
3	ATF1	chr1:246591887-246592268	K562	blood:	n/a	n/a
4	ATF2	chr1:246598868-246599249	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:246606450-246606451	K562	blood:	n/a	n/a
6	BHLHE40	chr1:246591822-246592280	K562	blood:	n/a	n/a
7	BRCA1	chr1:246622436-246622858	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chr1:246598938-246599254	H1-hESC	embryonic stem cell:	n/a	n/a
9	CBX3	chr1:246591771-246592290	K562	blood:	n/a	n/a
10	CBX3	chr1:246611654-246611998	K562	blood:	n/a	n/a
11	CBX3	chr1:246591794-246592269	K562	blood:	n/a	n/a
12	CEBPB	chr1:246598407-246598920	K562	blood:	n/a	chr1:246598811-246598823 chr1:246598665-246598678
13	CEBPB	chr1:246598435-246599408	H1-hESC	embryonic stem cell:	n/a	chr1:246598811-246598823 chr1:246598665-246598678
14	CEBPB	chr1:246591783-246592270	K562	blood:	n/a	n/a
15	CEBPB	chr1:246598418-246598737	HepG2	liver:	n/a	chr1:246598665-246598678
16	CEBPB	chr1:246598407-246599012	IMR90	lung:	n/a	chr1:246598811-246598823 chr1:246598665-246598678
17	CEBPB	chr1:246591895-246592281	K562	blood:	n/a	n/a
18	CEBPB	chr1:246598491-246599425	Hela-S3	cervix:	n/a	chr1:246598811-246598823 chr1:246598665-246598678
19	CEBPB	chr1:246614170-246614380	A549	lung:	n/a	n/a
20	CEBPB	chr1:246598404-246598904	A549	lung:	n/a	chr1:246598811-246598823 chr1:246598665-246598678
21	CEBPB	chr1:246614101-246614437	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr1:246591815-246592267	IMR90	lung:	n/a	n/a
23	CEBPD	chr1:246591700-246592270	K562	blood:	n/a	n/a
24	CHD2	chr1:246598938-246599346	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr1:246622339-246622901	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr1:246622531-246622783	K562	blood:	n/a	n/a
27	CTCF	chr1:246614180-246614330	HMEC	breast:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
28	CTCF	chr1:246614200-246614350	AG04450	lung:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
29	CTCF	chr1:246614120-246614270	HFF-Myc	foreskin:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
30	CTCF	chr1:246614145-246614383	K562	blood:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
31	CTCF	chr1:246613996-246614425	T-47D	breast:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
32	CTCF	chr1:246614160-246614310	HCFaa	heart:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
33	CTCF	chr1:246614180-246614330	GM12878	blood:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
34	CTCF	chr1:246614160-246614310	HMF	breast:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
35	CTCF	chr1:246614185-246614353	GM10248	blood:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
36	CTCF	chr1:246614140-246614290	GM12874	blood:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
37	CTCF	chr1:246614150-246614365	Pancreas_OC	pancreas:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
38	CTCF	chr1:246614186-246614339	GM10266	blood:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
39	CTCF	chr1:246614079-246614427	SK-N-SH_RA	brain:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
40	CTCF	chr1:246614180-246614330	AG09309	skin:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
41	CTCF	chr1:246614180-246614330	GM12873	blood:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
42	CTCF	chr1:246614220-246614370	HCM	heart:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
43	CTCF	chr1:246613853-246614675	SK-N-SH	brain:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
44	CTCF	chr1:246614200-246614350	HCM	heart:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
45	CTCF	chr1:246614049-246614464	MCF-7	breast:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
46	CTCF	chr1:246614160-246614310	HCPEpiC	choroid plexus:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
47	CTCF	chr1:246614239-246614335	ProgFib	skin:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
48	CTCF	chr1:246614149-246614325	A549	lung:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
49	CTCF	chr1:246614180-246614330	HMF	breast:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260
50	CTCF	chr1:246614200-246614350	GM06990	blood:	n/a	chr1:246614241-246614262 chr1:246614247-246614263 chr1:246614246-246614264 chr1:246614253-246614260

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246622662-246622712	HRCEpiC	kidney:	n/a
2	chr1:246622662-246622712	HRCEpiC	kidney:	n/a
3	chr1:246622633-246622683	CMK	blood:	n/a
4	chr1:246613311-246613361	SAEC	small airway:	n/a
5	chr1:246622662-246622712	Hela-S3	cervix:	n/a
6	chr1:246622633-246622683	Jurkat	blood:	n/a
7	chr1:246622662-246622712	HEK293	kidney:	embryo
8	chr1:246622483-246622533	ovcar-3	ovarian:	n/a
9	chr1:246622662-246622712	GM19239	blood:	n/a
10	chr1:246622483-246622533	HEK293	kidney:	embryo
11	chr1:246622633-246622683	HEEpiC	esophagus:	n/a
12	chr1:246622483-246622533	PANC-1	pancreas:	n/a
13	chr1:246622662-246622712	NB4	blood:	n/a
14	chr1:246622633-246622683	K562	blood:	n/a
15	chr1:246622483-246622533	GM19239	blood:	n/a
16	chr1:246622662-246622712	GM12891	blood:	n/a
17	chr1:246622662-246622712	HL-60	blood:	n/a
18	chr1:246622633-246622683	NB4	blood:	n/a
19	chr1:246622633-246622683	HCM	heart:	n/a
20	chr1:246599230-246599280	SKMC	muscle:	n/a
21	chr1:246622633-246622683	AG09309	skin:	n/a
22	chr1:246599230-246599280	AG04449	skin:	fetal
23	chr1:246613311-246613361	GM12892	blood:	n/a
24	chr1:246622633-246622683	H1-hESC	embryonic stem cell:	embryo
25	chr1:246622483-246622533	A549	lung:	n/a
26	chr1:246613311-246613361	HRCEpiC	kidney:	n/a
27	chr1:246622662-246622712	SK-N-SH	brain:	n/a
28	chr1:246613311-246613361	GM12878	blood:	n/a
29	chr1:246622633-246622683	SK-N-SH_RA	brain:	n/a
30	chr1:246622483-246622533	AG09319	gingival:	n/a
31	chr1:246622633-246622683	AoSMC	blood vessel:	n/a
32	chr1:246622662-246622712	NHBE	bronchial:	n/a
33	chr1:246622483-246622533	HL-60	blood:	n/a
34	chr1:246622483-246622533	LNCaP	prostate:	n/a
35	chr1:246622662-246622712	HNPCEpiC	eye:	n/a
36	chr1:246622633-246622683	HRCEpiC	kidney:	n/a
37	chr1:246599230-246599280	H1-hESC	embryonic stem cell:	embryo
38	chr1:246622483-246622533	U87	brain:	n/a
39	chr1:246622633-246622683	NH-A	brain:	n/a
40	chr1:246622483-246622533	GM12892	blood:	n/a
41	chr1:246622633-246622683	HRE	kidney:	n/a
42	chr1:246622483-246622533	GM12891	blood:	n/a
43	chr1:246613311-246613361	NT2-D1	testis:	n/a
44	chr1:246622483-246622533	HRPEpiC	eye:	n/a
45	chr1:246622662-246622712	Caco-2	colon:	n/a
46	chr1:246622633-246622683	GM12891	blood:	n/a
47	chr1:246613311-246613361	HAEpiC	amniotic membrane:	n/a
48	chr1:246613311-246613361	H1-hESC	embryonic stem cell:	embryo
49	chr1:246599230-246599280	Hepatocyte	liver:	n/a
50	chr1:246622633-246622683	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:246601398..246602968-chr1:246608645..246610386,2	K562	blood:
2	chr1:246175245..246176233-chr1:246613342..246615151,4	MCF-7	breast:
3	chr1:246600615..246602867-chr1:246611265..246613184,2	K562	blood:
4	chr1:246606314..246608137-chr1:246622294..246625192,2	K562	blood:
5	chr1:246618350..246620200-chr1:246622120..246624573,2	K562	blood:
6	chr1:246601398..246602968-chr1:246608645..246610386,2	K562	blood:
7	chr1:246600615..246602867-chr1:246611265..246613184,2	K562	blood:
8	chr1:246280440..246281134-chr1:246613800..246614445,2	MCF-7	breast:
9	chr1:246587797..246590207-chr1:246590613..246593809,3	K562	blood:
10	chr1:246618350..246620200-chr1:246622120..246624573,2	K562	blood:
11	chr1:246594102..246596959-chr1:246598193..246600594,2	K562	blood:
12	chr1:246175508..246176198-chr1:246613763..246614605,2	K562	blood:
13	chr1:246606314..246608137-chr1:246622294..246625192,2	K562	blood:
14	chr1:246444872..246446533-chr1:246597803..246600502,2	MCF-7	breast:
15	chr1:246601270..246602898-chr1:246608886..246610495,2	K562	blood:
16	chr1:246594102..246596959-chr1:246598193..246600594,2	K562	blood:
17	chr1:246601270..246602898-chr1:246608886..246610495,2	K562	blood:
18	chr1:246174027..246176471-chr1:246609850..246611898,2	K562	blood:

Variant related genes	Relation type
ENSG00000207326	TF binding region
ENSG00000207326	CpG island
ENSG00000207326	chromatin interactions

Extended variants
information (count: 1211 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1211 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7546372	chr1:246592234-246592235	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375795038	chr1:246592247-246592248	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373398156	chr1:246592269-246592270	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145772363	chr1:246592343-246592344	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs149005536	chr1:246592378-246592379	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548640822	chr1:246592387-246592388	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561975632	chr1:246592404-246592405	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527865902	chr1:246592545-246592546	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs367912954	chr1:246592623-246592624	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369375771	chr1:246592630-246592631	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs143777816	chr1:246592638-246592639	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376377798	chr1:246592658-246592659	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183180925	chr1:246592663-246592664	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549913701	chr1:246592688-246592689	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114011313	chr1:246592694-246592695	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570030204	chr1:246592729-246592730	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs72778150	chr1:246592769-246592770	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7513043	chr1:246592772-246592773	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572304963	chr1:246592828-246592829	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374145837	chr1:246592879-246592880	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs73134118	chr1:246592881-246592882	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs187865838	chr1:246592888-246592889	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577868636	chr1:246592908-246592909	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs1890802	chr1:246592913-246592914	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs563159926	chr1:246592914-246592915	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573282551	chr1:246593046-246593047	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs190970564	chr1:246593056-246593057	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140786865	chr1:246593062-246593063	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs574495998	chr1:246593107-246593108	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs55812814	chr1:246593119-246593120	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547674573	chr1:246593163-246593164	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112552576	chr1:246593164-246593165	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs56296780	chr1:246593166-246593167	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371205454	chr1:246593388-246593389	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs1148727	chr1:246593394-246593395	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564658997	chr1:246593405-246593406	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs533471072	chr1:246593443-246593444	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1148728	chr1:246593444-246593445	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12044975	chr1:246593450-246593451	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75749554	chr1:246593500-246593501	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183296758	chr1:246593506-246593507	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541513745	chr1:246593520-246593521	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559725811	chr1:246593605-246593606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570092626	chr1:246593637-246593638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188688261	chr1:246593661-246593662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs6699775	chr1:246593662-246593663	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs138530431	chr1:246593712-246593713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535076955	chr1:246593747-246593748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557684296	chr1:246593867-246593868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116351895	chr1:246593926-246593927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	19805367	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246554600-246594800	Weak transcription	Right Ventricle	heart
2	chr1:246580800-246598400	Weak transcription	A549	lung
3	chr1:246581000-246608200	Weak transcription	Aorta	Aorta
4	chr1:246582000-246601600	Weak transcription	Primary T cells from cord blood	blood
5	chr1:246589200-246592800	Enhancers	NHEK	skin
6	chr1:246589200-246599200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:246589200-246602000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:246590800-246592600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:246590800-246592800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:246590800-246593000	Enhancers	Osteobl	bone
11	chr1:246591000-246592600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:246591000-246592600	Enhancers	HSMM	muscle
13	chr1:246591000-246592800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:246591000-246592800	Enhancers	NH-A	brain
15	chr1:246591000-246593000	Enhancers	Dnd41	blood
16	chr1:246591000-246593000	Enhancers	HMEC	breast
17	chr1:246591200-246592400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:246591200-246592400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:246591200-246592600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:246591200-246594800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:246591400-246592400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:246591400-246592400	Enhancers	NHDF-Ad	bronchial
23	chr1:246591400-246592600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:246591400-246593000	Enhancers	HSMMtube	muscle
25	chr1:246591600-246592400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:246591800-246592600	Enhancers	Fetal Intestine Small	intestine
27	chr1:246592000-246592400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr1:246592000-246592400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:246592000-246592600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:246592000-246592600	ZNF genes & repeats	GM12878-XiMat	blood
31	chr1:246592000-246592600	Genic enhancers	K562	blood
32	chr1:246592200-246592400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:246592200-246593400	Weak transcription	Small Intestine	intestine
34	chr1:246592200-246594800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:246592200-246598000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:246592200-246598200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:246592200-246598200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:246592400-246592800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:246592400-246597200	Weak transcription	NHDF-Ad	bronchial
40	chr1:246592400-246598000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:246592600-246593600	Weak transcription	K562	blood
42	chr1:246592600-246596600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:246592600-246598200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:246592800-246596000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:246592800-246597800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:246593000-246594600	Weak transcription	HMEC	breast
47	chr1:246593000-246597200	Weak transcription	Dnd41	blood
48	chr1:246593000-246597200	Weak transcription	HSMMtube	muscle
49	chr1:246593000-246597200	Weak transcription	Osteobl	bone
50	chr1:246593800-246594000	Enhancers	Small Intestine	intestine

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