Variant report

Variant	nsv437915
Chromosome Location	chr1:95138084-95153262
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	chr1:95143325-95143609	K562	blood:	n/a	n/a
2	BHLHE40	chr1:95143320-95143564	K562	blood:	n/a	n/a
3	CEBPB	chr1:95148401-95148713	IMR90	lung:	n/a	chr1:95148548-95148559
4	CEBPB	chr1:95148526-95148547	HepG2	liver:	n/a	n/a
5	CEBPB	chr1:95152451-95152699	HepG2	liver:	n/a	n/a
6	CEBPB	chr1:95143729-95144065	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr1:95140890-95141377	IMR90	lung:	n/a	chr1:95141176-95141189
8	CEBPB	chr1:95148455-95148686	Hela-S3	cervix:	n/a	chr1:95148548-95148559
9	CEBPB	chr1:95138437-95138965	IMR90	lung:	n/a	n/a
10	CTCF	chr1:95150040-95150106	Fibrobl	skin:	n/a	n/a
11	CTCF	chr1:95149920-95150070	HepG2	liver:	n/a	chr1:95150025-95150033
12	CTCF	chr1:95149955-95150077	H1-hESC	embryonic stem cell:	n/a	chr1:95150025-95150033
13	CTCF	chr1:95149995-95150037	MCF-7	breast:	n/a	chr1:95150025-95150033
14	CTCF	chr1:95149960-95150110	HCT-116	colon:	n/a	chr1:95150025-95150033
15	CTCF	chr1:95149991-95149994	MCF-7	breast:	n/a	n/a
16	CTCF	chr1:95149960-95150110	HEK293	kidney:	n/a	chr1:95150025-95150033
17	CTCF	chr1:95149973-95150081	MCF-7	breast:	n/a	chr1:95150025-95150033
18	CTCF	chr1:95149983-95150055	MCF-7	breast:	n/a	chr1:95150025-95150033
19	CTCF	chr1:95148280-95148430	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr1:95149940-95150090	MCF-7	breast:	n/a	chr1:95150025-95150033
21	E2F6	chr1:95149871-95150217	H1-hESC	embryonic stem cell:	n/a	n/a
22	ESR1	chr1:95142263-95142651	ECC-1	luminal epithelium:	n/a	n/a
23	ESR1	chr1:95142321-95142714	ECC-1	luminal epithelium:	n/a	n/a
24	ESR1	chr1:95142164-95142730	ECC-1	luminal epithelium:	n/a	n/a
25	ESR1	chr1:95142127-95142755	ECC-1	luminal epithelium:	n/a	n/a
26	FOS	chr1:95143316-95143639	K562	blood:	n/a	n/a
27	GATA3	chr1:95143898-95144143	T-47D	breast:	n/a	chr1:95144037-95144046
28	GATA3	chr1:95143908-95144255	MCF-7	breast:	n/a	chr1:95144037-95144046
29	JUND	chr1:95148676-95148985	H1-hESC	embryonic stem cell:	n/a	chr1:95148807-95148815
30	JUND	chr1:95148728-95148893	H1-hESC	embryonic stem cell:	n/a	chr1:95148807-95148815
31	MAFF	chr1:95142755-95142907	K562	blood:	n/a	chr1:95142838-95142856
32	MAFF	chr1:95142674-95143010	HepG2	liver:	n/a	chr1:95142838-95142856
33	MAFF	chr1:95144917-95145234	HepG2	liver:	n/a	chr1:95145086-95145104
34	MAFF	chr1:95145041-95145241	K562	blood:	n/a	chr1:95145086-95145104
35	MAFK	chr1:95138428-95138871	IMR90	lung:	n/a	n/a
36	MAFK	chr1:95144922-95145260	HepG2	liver:	n/a	chr1:95145087-95145102
37	MAFK	chr1:95144909-95145272	Hela-S3	cervix:	n/a	chr1:95145087-95145102
38	MAFK	chr1:95142662-95143011	IMR90	lung:	n/a	chr1:95142839-95142854
39	MAFK	chr1:95142669-95143020	HepG2	liver:	n/a	chr1:95142839-95142854
40	MAFK	chr1:95144908-95145278	IMR90	lung:	n/a	chr1:95145087-95145102
41	MAFK	chr1:95142671-95143004	HepG2	liver:	n/a	chr1:95142839-95142854
42	MAFK	chr1:95144916-95145266	HepG2	liver:	n/a	chr1:95145087-95145102
43	MAFK	chr1:95142749-95143012	Hela-S3	cervix:	n/a	chr1:95142839-95142854
44	MAFK	chr1:95140858-95141414	IMR90	lung:	n/a	chr1:95141091-95141101
45	MAFK	chr1:95144920-95145228	K562	blood:	n/a	chr1:95145087-95145102
46	MAX	chr1:95148655-95149036	NB4	blood:	n/a	chr1:95148841-95148851 chr1:95148842-95148853 chr1:95148843-95148852 chr1:95148841-95148854 chr1:95148841-95148854 chr1:95148841-95148856 chr1:95148843-95148853 chr1:95148839-95148854 chr1:95148843-95148852 chr1:95148844-95148851 chr1:95148841-95148854 chr1:95148841-95148854 chr1:95148842-95148853 chr1:95148843-95148853 chr1:95148844-95148853 chr1:95148842-95148852
47	MXI1	chr1:95148921-95148923	Hela-S3	cervix:	n/a	n/a
48	MYC	chr1:95148714-95148996	NB4	blood:	n/a	chr1:95148841-95148851 chr1:95148842-95148853 chr1:95148843-95148852 chr1:95148841-95148854 chr1:95148841-95148854 chr1:95148841-95148856 chr1:95148843-95148853 chr1:95148839-95148854 chr1:95148843-95148852 chr1:95148844-95148851 chr1:95148841-95148854 chr1:95148841-95148854 chr1:95148842-95148853 chr1:95148843-95148853 chr1:95148844-95148853 chr1:95148842-95148852
49	NFIC	chr1:95142165-95142663	ECC-1	luminal epithelium:	n/a	n/a
50	NFYB	chr1:95143377-95143584	GM12878	blood:	n/a	chr1:95143464-95143479

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:95149580-95149630	HMEC	breast:	n/a
2	chr1:95149580-95149630	HMEC	breast:	n/a
3	chr1:95141800-95141850	HRPEpiC	eye:	n/a
4	chr1:95149580-95149630	GM12892	blood:	n/a
5	chr1:95149580-95149630	PANC-1	pancreas:	n/a
6	chr1:95149580-95149630	GM12878	blood:	n/a
7	chr1:95149580-95149630	A549	lung:	n/a
8	chr1:95141800-95141850	AG09319	gingival:	n/a
9	chr1:95149580-95149630	ovcar-3	ovarian:	n/a
10	chr1:95149580-95149630	BE2_C	brain:	n/a
11	chr1:95149580-95149630	HL-60	blood:	n/a
12	chr1:95141800-95141850	HCM	heart:	n/a
13	chr1:95149580-95149630	HEEpiC	esophagus:	n/a
14	chr1:95149580-95149630	LNCaP	prostate:	n/a
15	chr1:95149580-95149630	HCF	heart:	n/a
16	chr1:95141800-95141850	CMK	blood:	n/a
17	chr1:95149580-95149630	H1-hESC	embryonic stem cell:	embryo
18	chr1:95141800-95141850	PrEC	prostate:	n/a
19	chr1:95149580-95149630	AG09309	skin:	n/a
20	chr1:95149580-95149630	HIPEpiC	eye:	n/a
21	chr1:95149580-95149630	HAEpiC	amniotic membrane:	n/a
22	chr1:95141800-95141850	A549	lung:	n/a
23	chr1:95141800-95141850	HCF	heart:	n/a
24	chr1:95141800-95141850	MCF10A-Er-Src	breast:	n/a
25	chr1:95141800-95141850	HNPCEpiC	eye:	n/a
26	chr1:95141800-95141850	GM06990	blood:	n/a
27	chr1:95149580-95149630	GM12891	blood:	n/a
28	chr1:95141800-95141850	GM12878	blood:	n/a
29	chr1:95141800-95141850	GM12891	blood:	n/a
30	chr1:95149580-95149630	SKMC	muscle:	n/a
31	chr1:95149580-95149630	RPTEC	kidney:	n/a
32	chr1:95149580-95149630	AG09319	gingival:	n/a
33	chr1:95149580-95149630	Hepatocyte	liver:	n/a
34	chr1:95141800-95141850	AG09309	skin:	n/a
35	chr1:95149580-95149630	HUVEC	blood vessel:	n/a
36	chr1:95141800-95141850	HEEpiC	esophagus:	n/a
37	chr1:95149580-95149630	AoSMC	blood vessel:	n/a
38	chr1:95141800-95141850	HCT-116	colon:	n/a
39	chr1:95149580-95149630	HCPEpiC	choroid plexus:	n/a
40	chr1:95149580-95149630	Jurkat	blood:	n/a
41	chr1:95141800-95141850	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:95149580-95149630	HepG2	liver:	n/a
43	chr1:95141800-95141850	BJ	skin:	n/a
44	chr1:95141800-95141850	AoSMC	blood vessel:	n/a
45	chr1:95149580-95149630	CMK	blood:	n/a
46	chr1:95149580-95149630	MCF10A-Er-Src	breast:	n/a
47	chr1:95141800-95141850	U87	brain:	n/a
48	chr1:95141800-95141850	ProgFib	skin:	n/a
49	chr1:95149580-95149630	SK-N-SH	brain:	n/a
50	chr1:95149580-95149630	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:95135759..95138517-chr1:95142176..95146453,3	K562	blood:
2	chr1:95135759..95138517-chr1:95142176..95146453,3	K562	blood:
3	chr1:95147936..95149911-chr1:95157813..95160581,2	K562	blood:
4	chr1:95143459..95146021-chr1:95146335..95147850,2	K562	blood:
5	chr1:95143459..95146021-chr1:95146335..95147850,2	K562	blood:
6	chr1:95116283..95118037-chr1:95153158..95155389,2	K562	blood:
7	chr1:95145448..95146125-chr1:113615023..113615898,2	K562	blood:
8	chr1:95134967..95137782-chr1:95144953..95147356,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-F3-2	chr1:95144981-95145163	NONHSAT004609
2	lnc-F3-2	chr1:95144981-95145163	NONHSAT004607
3	lnc-CNN3-3	chr1:95138685-95138827	ENSG00000224081.2
4	lnc-SLC44A3-2	chr1:95149016-95149176	XLOC_000303
5	lnc-F3-2	chr1:95138492-95138827	NONHSAT004608
6	lnc-F3-2	chr1:95144981-95145163	NONHSAT004608
7	lnc-CNN3-3	chr1:95138453-95138827	ENSG00000224081.2
8	lnc-CNN3-3	chr1:95144981-95145163	ENSG00000224081.2
9	lnc-SLC44A3-2	chr1:95148857-95149176	XLOC_000303
10	lnc-F3-2	chr1:95138492-95138827	NONHSAT004609
11	lnc-CNN3-3	chr1:95144981-95145163	ENSG00000224081.2
12	lnc-F3-2	chr1:95145136-95145163	ENSG00000224081.3
13	lnc-SLC44A3-2	chr1:95143554-95143579	XLOC_000303
14	lnc-SLC44A3-2	chr1:95149856-95150619	XLOC_000303
15	lnc-CNN3-3	chr1:95144981-95145163	ENSG00000224081.2
16	lnc-SLC44A3-2	chr1:95143531-95144178	NONHSAT004611
17	lnc-CNN3-3	chr1:95144981-95145163	ENSG00000224081.2
18	lnc-CNN3-3	chr1:95144981-95145163	ENSG00000224081.2
19	lnc-SLC44A3-2	chr1:95144981-95145163	NONHSAT004611
20	lnc-F3-2	chr1:95144981-95145163	NONHSAT004613

Variant related genes	Relation type
PGBD4P7	TF binding region
PGBD4P7	CpG island
ENSG00000198799	chromatin interactions
ENSG00000232857	chromatin interactions
ENSG00000238198	chromatin interactions
SPTLC1	miRNA target sites
FUBP1	miRNA target sites

Extended variants
information (count: 578 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:578 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs841344	chr1:95138084-95138085	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556492551	chr1:95138088-95138089	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576336062	chr1:95138122-95138123	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs841345	chr1:95138126-95138127	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138751236	chr1:95138146-95138147	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572349114	chr1:95138147-95138148	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs841346	chr1:95138154-95138155	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs116503527	chr1:95138170-95138171	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530303860	chr1:95138240-95138241	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550188124	chr1:95138246-95138247	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562541784	chr1:95138284-95138285	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545781653	chr1:95138331-95138332	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142688092	chr1:95138402-95138403	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540179151	chr1:95138406-95138407	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147365413	chr1:95138447-95138448	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs841347	chr1:95138448-95138449	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571317894	chr1:95138475-95138476	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs533988591	chr1:95138500-95138501	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs182706966	chr1:95138506-95138507	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs567585790	chr1:95138508-95138509	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs371335807	chr1:95138601-95138602	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs61215510	chr1:95138610-95138611	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs186589795	chr1:95138632-95138633	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs78915248	chr1:95138674-95138675	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs559011324	chr1:95138781-95138782	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs572165111	chr1:95138803-95138804	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs541251222	chr1:95138881-95138882	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561176076	chr1:95138910-95138911	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368915966	chr1:95139002-95139003	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112674189	chr1:95139015-95139016	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563825895	chr1:95139048-95139049	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7538672	chr1:95139104-95139105	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551051168	chr1:95139125-95139126	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12041069	chr1:95139134-95139135	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs527352864	chr1:95139137-95139138	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547492097	chr1:95139254-95139255	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531498892	chr1:95139268-95139269	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4483422	chr1:95139300-95139301	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536048984	chr1:95139329-95139330	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190925886	chr1:95139356-95139357	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75330617	chr1:95139397-95139398	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2933913	chr1:95139411-95139412	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs841348	chr1:95139413-95139414	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558503371	chr1:95139425-95139426	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113643315	chr1:95139435-95139436	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61773213	chr1:95139453-95139454	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534827085	chr1:95139467-95139468	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs698952	chr1:95139479-95139480	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574739334	chr1:95139480-95139481	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543606703	chr1:95139490-95139491	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95126800-95141600	Weak transcription	Pancreas	Pancrea
2	chr1:95126800-95164200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:95128400-95154600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:95133400-95141200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:95133600-95141600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:95134000-95142800	Weak transcription	Small Intestine	intestine
7	chr1:95134400-95141600	Weak transcription	Gastric	stomach
8	chr1:95134800-95139800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:95135000-95154400	Weak transcription	NHLF	lung
10	chr1:95135200-95144200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:95135400-95141000	Weak transcription	Stomach Mucosa	stomach
12	chr1:95135400-95143000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:95135400-95150400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:95135600-95141000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:95136000-95139000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:95136200-95142200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:95136800-95141800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:95137200-95139000	Enhancers	NHDF-Ad	bronchial
19	chr1:95137200-95139800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:95137400-95138800	Strong transcription	Fetal Intestine Large	intestine
21	chr1:95137400-95139000	Enhancers	NH-A	brain
22	chr1:95137400-95139600	Strong transcription	Fetal Intestine Small	intestine
23	chr1:95137600-95141600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:95137800-95138200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:95137800-95138400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:95138200-95148800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:95138400-95141200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:95138400-95141800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:95138800-95141200	Weak transcription	Fetal Intestine Large	intestine
30	chr1:95139000-95140400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:95139400-95141400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr1:95139600-95140400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr1:95139600-95140600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:95139600-95141000	Weak transcription	Fetal Intestine Small	intestine
35	chr1:95139800-95140200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:95139800-95140400	Enhancers	Primary hematopoietic stem cells	blood
37	chr1:95140000-95155600	Weak transcription	HSMMtube	muscle
38	chr1:95140200-95140400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:95140400-95142800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:95140400-95151000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:95141000-95141400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:95141000-95144400	Genic enhancers	Fetal Intestine Small	intestine
43	chr1:95141000-95145200	Enhancers	Stomach Mucosa	stomach
44	chr1:95141200-95141400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr1:95141200-95142400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:95141200-95143600	Enhancers	Fetal Intestine Large	intestine
47	chr1:95141400-95142400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr1:95141400-95142600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:95141400-95143200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:95141600-95141800	Enhancers	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links