Variant report

Variant	nsv946304
Chromosome Location	chr1:146695116-146696674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:62)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr1:146696496-146696714	HepG2	liver:	n/a	n/a
2	CTCF	chr1:146696520-146696670	HPF	lung:	n/a	n/a
3	CTCF	chr1:146696580-146696730	MCF-7	breast:	n/a	n/a
4	CTCF	chr1:146696600-146696750	GM12866	blood:	n/a	n/a
5	EGR1	chr1:146696434-146697349	MCF-7	breast:	n/a	chr1:146697031-146697045
6	ELF1	chr1:146696620-146697398	MCF-7	breast:	n/a	chr1:146697215-146697228
7	ELF1	chr1:146696574-146697561	MCF-7	breast:	n/a	chr1:146697215-146697228
8	FOXA1	chr1:146696585-146697423	HepG2	liver:	n/a	n/a
9	GATA3	chr1:146696412-146697096	T-47D	breast:	n/a	n/a
10	HA-E2F1	chr1:146696410-146697265	MCF-7	breast:	n/a	n/a
11	HDAC2	chr1:146696432-146697362	MCF-7	breast:	n/a	n/a
12	HDAC2	chr1:146696656-146697247	MCF-7	breast:	n/a	n/a
13	HEY1	chr1:146696363-146697426	HepG2	liver:	n/a	n/a
14	HEY1	chr1:146693921-146696141	HepG2	liver:	n/a	n/a
15	HEY1	chr1:146695532-146695984	HepG2	liver:	n/a	n/a
16	MAFK	chr1:146696479-146696823	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr1:146696617-146697440	HepG2	liver:	n/a	n/a
18	MAX	chr1:146696557-146697071	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr1:146696622-146697444	A549	lung:	n/a	n/a
20	MBD4	chr1:146695556-146696053	HepG2	liver:	n/a	n/a
21	MBD4	chr1:146696364-146697182	HepG2	liver:	n/a	n/a
22	MXI1	chr1:146696659-146697117	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYBL2	chr1:146696582-146697361	HepG2	liver:	n/a	n/a
24	NFIC	chr1:146695753-146696194	HepG2	liver:	n/a	n/a
25	NFIC	chr1:146696449-146697085	HepG2	liver:	n/a	n/a
26	NFIC	chr1:146696549-146697061	HepG2	liver:	n/a	n/a
27	POLR2A	chr1:146696181-146697119	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:146693731-146696042	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:146695276-146695950	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:146696306-146697377	HepG2	liver:	n/a	n/a
31	POLR2A	chr1:146693138-146696033	HepG2	liver:	n/a	n/a
32	POLR2A	chr1:146695585-146695668	A549	lung:	n/a	n/a
33	POLR2A	chr1:146696640-146697186	HepG2	liver:	n/a	n/a
34	POLR2A	chr1:146696377-146696579	HepG2	liver:	n/a	n/a
35	POLR2A	chr1:146695631-146695648	MCF-7	breast:	n/a	n/a
36	POLR2A	chr1:146696308-146697391	HepG2	liver:	n/a	n/a
37	POLR2A	chr1:146695562-146695803	HepG2	liver:	n/a	n/a
38	POLR2A	chr1:146695424-146695950	HepG2	liver:	n/a	n/a
39	RCOR1	chr1:146696534-146697269	K562	blood:	n/a	n/a
40	REST	chr1:146695724-146695930	K562	blood:	n/a	n/a
41	REST	chr1:146696579-146697133	HepG2	liver:	n/a	n/a
42	REST	chr1:146695740-146695876	Hela-S3	cervix:	n/a	n/a
43	REST	chr1:146695602-146695935	HepG2	liver:	n/a	n/a
44	RFX5	chr1:146696565-146696985	HepG2	liver:	n/a	n/a
45	SIN3A	chr1:146696540-146697432	H1-hESC	embryonic stem cell:	n/a	n/a
46	SIN3AK20	chr1:146696352-146697472	MCF-7	breast:	n/a	n/a
47	TBL1XR1	chr1:146696554-146696574	GM12878	blood:	n/a	n/a
48	TBL1XR1	chr1:146696626-146696916	K562	blood:	n/a	n/a
49	UBTF	chr1:146696511-146696538	K562	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:146695178-146695228	HRE	kidney:	n/a
2	chr1:146695178-146695228	HRE	kidney:	n/a
3	chr1:146695178-146695228	HCT-116	colon:	n/a
4	chr1:146695178-146695228	T-47D	breast:	n/a
5	chr1:146695178-146695228	HCPEpiC	choroid plexus:	n/a
6	chr1:146695178-146695228	MCF-7	breast:	n/a
7	chr1:146695178-146695228	HUVEC	blood vessel:	n/a
8	chr1:146695178-146695228	GM12878	blood:	n/a
9	chr1:146695178-146695228	HRCEpiC	kidney:	n/a
10	chr1:146695178-146695228	GM12891	blood:	n/a
11	chr1:146695178-146695228	CMK	blood:	n/a
12	chr1:146695178-146695228	GM06990	blood:	n/a
13	chr1:146695178-146695228	PFSK-1	brain:	n/a
14	chr1:146695178-146695228	LNCaP	prostate:	n/a
15	chr1:146695178-146695228	HIPEpiC	eye:	n/a
16	chr1:146695178-146695228	PANC-1	pancreas:	n/a
17	chr1:146695178-146695228	Hela-S3	cervix:	n/a
18	chr1:146695178-146695228	ProgFib	skin:	n/a
19	chr1:146695178-146695228	SKMC	muscle:	n/a
20	chr1:146695178-146695228	BJ	skin:	n/a
21	chr1:146695178-146695228	MCF10A-Er-Src	breast:	n/a
22	chr1:146695178-146695228	AoSMC	blood vessel:	n/a
23	chr1:146695178-146695228	U87	brain:	n/a
24	chr1:146695178-146695228	HCM	heart:	n/a
25	chr1:146695178-146695228	HMEC	breast:	n/a
26	chr1:146695178-146695228	AG04450	lung:	fetal
27	chr1:146695178-146695228	HL-60	blood:	n/a
28	chr1:146695178-146695228	SK-N-SH_RA	brain:	n/a
29	chr1:146695178-146695228	AG09319	gingival:	n/a
30	chr1:146695178-146695228	SAEC	small airway:	n/a
31	chr1:146695178-146695228	AG09309	skin:	n/a
32	chr1:146695178-146695228	HAEpiC	amniotic membrane:	n/a
33	chr1:146695178-146695228	GM19239	blood:	n/a
34	chr1:146695178-146695228	HCF	heart:	n/a
35	chr1:146695178-146695228	RPTEC	kidney:	n/a
36	chr1:146695178-146695228	NH-A	brain:	n/a
37	chr1:146695178-146695228	HepG2	liver:	n/a
38	chr1:146695178-146695228	ovcar-3	ovarian:	n/a
39	chr1:146695178-146695228	BE2_C	brain:	n/a
40	chr1:146695178-146695228	SK-N-SH	brain:	n/a
41	chr1:146695178-146695228	IMR90	lung:	fetal
42	chr1:146695178-146695228	PrEC	prostate:	n/a
43	chr1:146695178-146695228	NHBE	bronchial:	n/a
44	chr1:146695178-146695228	Caco-2	colon:	n/a
45	chr1:146695178-146695228	H1-hESC	embryonic stem cell:	embryo
46	chr1:146695178-146695228	NT2-D1	testis:	n/a
47	chr1:146695178-146695228	K562	blood:	n/a
48	chr1:146695178-146695228	AG04449	skin:	fetal
49	chr1:146695178-146695228	GM12892	blood:	n/a
50	chr1:146695178-146695228	NB4	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:146696095..146697262-chr1:146714138..146714926,6	MCF-7	breast:
2	chr1:146554322..146557448-chr1:146695605..146698369,3	K562	blood:
3	chr1:146642791..146647744-chr1:146694916..146698486,10	MCF-7	breast:
4	chr1:146642336..146645437-chr1:146695438..146700629,5	MCF-7	breast:
5	chr1:146644917..146647495-chr1:146694467..146696944,2	K562	blood:
6	chr1:146554322..146556284-chr1:146695615..146697996,2	K562	blood:
7	chr1:146643871..146644784-chr1:146696536..146697321,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHD1L-2	chr1:146695146-146695940	NONHSAT006006

No data

Variant related genes	Relation type
ENSG00000236806	TF binding region
ENSG00000236806	CpG island
ENSG00000131778	chromatin interactions
ENSG00000230832	chromatin interactions
ENSG00000271721	chromatin interactions
ENSG00000237188	chromatin interactions
ENSG00000131791	chromatin interactions
ENSG00000131781	chromatin interactions
ENSG00000273071	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 157 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587716209	chr1:146695151-146695152	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs143410453	chr1:146695185-146695186	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs10900326	chr1:146695215-146695216	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs58276129	chr1:146695231-146695232	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs60565795	chr1:146695232-146695233	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs587676211	chr1:146695234-146695235	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs151325679	chr1:146695316-146695317	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs12039400	chr1:146695327-146695328	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs587695169	chr1:146695364-146695365	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs140468224	chr1:146695402-146695403	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs114448954	chr1:146695408-146695409	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs587676648	chr1:146695418-146695419	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs187000978	chr1:146695424-146695425	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs145643719	chr1:146695436-146695437	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs587692498	chr1:146695453-146695454	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs138172543	chr1:146695459-146695460	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs587636509	chr1:146695516-146695517	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs587690039	chr1:146695535-146695536	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs79074386	chr1:146695551-146695552	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs587642532	chr1:146695592-146695593	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs587717981	chr1:146695622-146695623	Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
22	rs587755027	chr1:146695723-146695724	Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
23	rs2015856	chr1:146695747-146695748	Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs587719039	chr1:146695893-146695894	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
25	rs587615291	chr1:146695922-146695923	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
26	rs191387738	chr1:146695929-146695930	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
27	rs181543640	chr1:146695940-146695941	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
28	rs200249472	chr1:146696021-146696022	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs587727839	chr1:146696055-146696056	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs587623330	chr1:146696065-146696066	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs587660716	chr1:146696093-146696094	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs28381173	chr1:146696106-146696107	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs587613791	chr1:146696164-146696165	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs587674326	chr1:146696169-146696170	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs142878852	chr1:146696180-146696181	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs587632833	chr1:146696197-146696198	Weak transcription Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs587691700	chr1:146696227-146696228	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs587769184	chr1:146696266-146696267	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs28381172	chr1:146696353-146696354	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs587698254	chr1:146696363-146696364	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs28381171	chr1:146696370-146696371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs28381170	chr1:146696385-146696386	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs28381169	chr1:146696389-146696390	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs587741749	chr1:146696391-146696392	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs587771649	chr1:146696398-146696399	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs199854177	chr1:146696413-146696414	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs17356031	chr1:146696435-146696436	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs376501759	chr1:146696436-146696437	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs587727550	chr1:146696453-146696454	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs370201270	chr1:146696480-146696481	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:157)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	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
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146649800-146695400	Weak transcription	Left Ventricle	heart
2	chr1:146658800-146695400	Weak transcription	Lung	lung
3	chr1:146659000-146695200	Weak transcription	Ovary	ovary
4	chr1:146672800-146696400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:146674200-146696600	Weak transcription	Brain Anterior Caudate	brain
6	chr1:146674400-146695400	Weak transcription	Right Ventricle	heart
7	chr1:146676800-146696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:146678400-146696200	Weak transcription	Colonic Mucosa	Colon
9	chr1:146679800-146696600	Weak transcription	Primary T cells from cord blood	blood
10	chr1:146680600-146696400	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:146681200-146696400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:146681800-146696400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:146682800-146695400	Weak transcription	Spleen	Spleen
14	chr1:146683800-146696400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:146684000-146695400	Weak transcription	Small Intestine	intestine
16	chr1:146684000-146696400	Weak transcription	Adipose Nuclei	Adipose
17	chr1:146685200-146696600	Weak transcription	Aorta	Aorta
18	chr1:146685400-146695200	Weak transcription	Pancreas	Pancrea
19	chr1:146686000-146695200	Weak transcription	Gastric	stomach
20	chr1:146686600-146696400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:146687000-146695600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:146687200-146696400	Weak transcription	Primary B cells from cord blood	blood
23	chr1:146687200-146696400	Weak transcription	Fetal Intestine Large	intestine
24	chr1:146687400-146696400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:146687600-146695400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:146688000-146695200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:146688000-146696400	Weak transcription	Fetal Intestine Small	intestine
28	chr1:146688400-146695200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:146688400-146695400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:146690800-146696400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:146691200-146695400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:146692200-146696400	Weak transcription	Fetal Kidney	kidney
33	chr1:146693600-146695600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr1:146694400-146695400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr1:146694400-146695800	Flanking Active TSS	Liver	Liver
36	chr1:146694400-146695800	Enhancers	Brain Substantia Nigra	brain
37	chr1:146694800-146695200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:146694800-146695200	Transcr. at gene 5' and 3'	HepG2	liver
39	chr1:146694800-146695400	Enhancers	Brain Cingulate Gyrus	brain
40	chr1:146694800-146695600	Flanking Active TSS	Stomach Mucosa	stomach
41	chr1:146694800-146696000	Enhancers	Fetal Lung	lung
42	chr1:146694800-146696400	Weak transcription	Brain Angular Gyrus	brain
43	chr1:146695000-146695800	Enhancers	Fetal Stomach	stomach
44	chr1:146695000-146696400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:146695200-146695400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:146695200-146695400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
47	chr1:146695200-146695400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr1:146695200-146695400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
49	chr1:146695200-146695400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr1:146695200-146695400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links