Variant report

Variant	nsv1006777
Chromosome Location	chr1:246585396-246702012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1975)
CpG islands
(count:1527)
Chromatin interactive
region (count:66)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1975 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:246587912-246588291	K562	blood:	n/a	n/a
2	ARID3A	chr1:246614048-246614417	K562	blood:	n/a	chr1:246614110-246614126
3	ARID3A	chr1:246670516-246670577	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:246660581-246660971	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:246660564-246660991	K562	blood:	n/a	n/a
6	ARID3A	chr1:246591789-246592119	K562	blood:	n/a	n/a
7	ARID3A	chr1:246614088-246614383	HepG2	liver:	n/a	chr1:246614110-246614126
8	ATF1	chr1:246591887-246592268	K562	blood:	n/a	n/a
9	ATF1	chr1:246589653-246589853	K562	blood:	n/a	n/a
10	ATF1	chr1:246588435-246588914	K562	blood:	n/a	n/a
11	ATF2	chr1:246598868-246599249	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr1:246669921-246670862	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr1:246591894-246592194	K562	blood:	n/a	n/a
14	BACH1	chr1:246606450-246606451	K562	blood:	n/a	n/a
15	BATF	chr1:246671669-246671904	GM12878	blood:	n/a	n/a
16	BATF	chr1:246591816-246592158	GM12878	blood:	n/a	n/a
17	BATF	chr1:246647202-246648395	GM12878	blood:	n/a	n/a
18	BATF	chr1:246591880-246592213	GM12878	blood:	n/a	n/a
19	BATF	chr1:246648136-246648477	GM12878	blood:	n/a	n/a
20	BCL11A	chr1:246647613-246648442	GM12878	blood:	n/a	n/a
21	BCL11A	chr1:246591909-246592164	GM12878	blood:	n/a	n/a
22	BCL11A	chr1:246591893-246592220	GM12878	blood:	n/a	n/a
23	BCLAF1	chr1:246660540-246660998	GM12878	blood:	n/a	n/a
24	BHLHE40	chr1:246670485-246670836	A549	lung:	n/a	chr1:246670628-246670644
25	BHLHE40	chr1:246588462-246588796	K562	blood:	n/a	n/a
26	BHLHE40	chr1:246670536-246670811	HepG2	liver:	n/a	chr1:246670628-246670644
27	BHLHE40	chr1:246660694-246660769	K562	blood:	n/a	n/a
28	BHLHE40	chr1:246591822-246592280	K562	blood:	n/a	n/a
29	BHLHE40	chr1:246670007-246670896	GM12878	blood:	n/a	chr1:246670272-246670288 chr1:246670628-246670644 chr1:246670269-246670285
30	BHLHE40	chr1:246672265-246672773	HepG2	liver:	n/a	n/a
31	BHLHE40	chr1:246670286-246670994	HepG2	liver:	n/a	chr1:246670628-246670644
32	BHLHE40	chr1:246669580-246670905	K562	blood:	n/a	chr1:246670272-246670288 chr1:246670628-246670644 chr1:246670269-246670285
33	BRCA1	chr1:246622436-246622858	H1-hESC	embryonic stem cell:	n/a	n/a
34	BRCA1	chr1:246670522-246670708	HepG2	liver:	n/a	n/a
35	BRCA1	chr1:246598938-246599254	H1-hESC	embryonic stem cell:	n/a	n/a
36	BRCA1	chr1:246670381-246670516	GM12878	blood:	n/a	n/a
37	CBX3	chr1:246670288-246671321	K562	blood:	n/a	n/a
38	CBX3	chr1:246611654-246611998	K562	blood:	n/a	n/a
39	CBX3	chr1:246678484-246679166	HCT-116	colon:	n/a	n/a
40	CBX3	chr1:246693715-246694190	HCT-116	colon:	n/a	n/a
41	CBX3	chr1:246678506-246679153	HCT-116	colon:	n/a	n/a
42	CBX3	chr1:246690039-246690639	K562	blood:	n/a	n/a
43	CBX3	chr1:246693720-246694251	HCT-116	colon:	n/a	n/a
44	CBX3	chr1:246678327-246679192	K562	blood:	n/a	n/a
45	CBX3	chr1:246690693-246691006	K562	blood:	n/a	n/a
46	CBX3	chr1:246693753-246694263	K562	blood:	n/a	n/a
47	CBX3	chr1:246588426-246589002	K562	blood:	n/a	n/a
48	CBX3	chr1:246693753-246694149	K562	blood:	n/a	n/a
49	CBX3	chr1:246591771-246592290	K562	blood:	n/a	n/a
50	CBX3	chr1:246591794-246592269	K562	blood:	n/a	n/a

(count:1527 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246592123-246592173	HRCEpiC	kidney:	n/a
2	chr1:246670199-246670249	LNCaP	prostate:	n/a
3	chr1:246592123-246592173	HRCEpiC	kidney:	n/a
4	chr1:246670199-246670249	LNCaP	prostate:	n/a
5	chr1:246670859-246670909	SK-N-MC	brain:	n/a
6	chr1:246670800-246670850	AG10803	skin:	n/a
7	chr1:246664003-246664053	HCT-116	colon:	n/a
8	chr1:246671665-246671715	T-47D	breast:	n/a
9	chr1:246672913-246672963	NH-A	brain:	n/a
10	chr1:246664003-246664053	GM12892	blood:	n/a
11	chr1:246622483-246622533	PANC-1	pancreas:	n/a
12	chr1:246668601-246668651	HCM	heart:	n/a
13	chr1:246670459-246670509	GM06990	blood:	n/a
14	chr1:246670898-246670948	T-47D	breast:	n/a
15	chr1:246670898-246670948	PrEC	prostate:	n/a
16	chr1:246670217-246670267	HIPEpiC	eye:	n/a
17	chr1:246672913-246672963	ECC-1	luminal epithelium:	n/a
18	chr1:246668601-246668651	HEEpiC	esophagus:	n/a
19	chr1:246592123-246592173	GM12878	blood:	n/a
20	chr1:246670728-246670778	HRPEpiC	eye:	n/a
21	chr1:246670726-246670776	HCT-116	colon:	n/a
22	chr1:246670199-246670249	H1-hESC	embryonic stem cell:	embryo
23	chr1:246684329-246684379	ovcar-3	ovarian:	n/a
24	chr1:246671665-246671715	HMEC	breast:	n/a
25	chr1:246670726-246670776	GM19239	blood:	n/a
26	chr1:246669975-246670025	SK-N-SH	brain:	n/a
27	chr1:246668601-246668651	AG10803	skin:	n/a
28	chr1:246670217-246670267	LNCaP	prostate:	n/a
29	chr1:246684329-246684379	SK-N-SH_RA	brain:	n/a
30	chr1:246668601-246668651	H1-hESC	embryonic stem cell:	embryo
31	chr1:246613311-246613361	AG09319	gingival:	n/a
32	chr1:246670459-246670509	HCT-116	colon:	n/a
33	chr1:246667857-246667907	HPAEpiC	pulmonary alveolar:	n/a
34	chr1:246646424-246646474	U87	brain:	n/a
35	chr1:246646424-246646474	HL-60	blood:	n/a
36	chr1:246670459-246670509	HPAEpiC	pulmonary alveolar:	n/a
37	chr1:246646424-246646474	HepG2	liver:	n/a
38	chr1:246670898-246670948	H1-hESC	embryonic stem cell:	embryo
39	chr1:246664003-246664053	CMK	blood:	n/a
40	chr1:246646424-246646474	ECC-1	luminal epithelium:	n/a
41	chr1:246613311-246613361	HCF	heart:	n/a
42	chr1:246670859-246670909	HRE	kidney:	n/a
43	chr1:246670754-246670804	GM06990	blood:	n/a
44	chr1:246670728-246670778	GM06990	blood:	n/a
45	chr1:246684329-246684379	AG04450	lung:	fetal
46	chr1:246672913-246672963	GM12878	blood:	n/a
47	chr1:246599230-246599280	Jurkat	blood:	n/a
48	chr1:246670726-246670776	GM06990	blood:	n/a
49	chr1:246622662-246622712	HAEpiC	amniotic membrane:	n/a
50	chr1:246670754-246670804	HCPEpiC	choroid plexus:	n/a

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:246660387..246663593-chr1:246664027..246666681,4	MCF-7	breast:
2	chr1:246665304..246668329-chr1:246668572..246671618,5	MCF-7	breast:
3	chr1:246175654..246176170-chr1:246655570..246656125,2	K562	blood:
4	chr1:246601270..246602898-chr1:246608886..246610495,2	K562	blood:
5	chr1:246694155..246697194-chr1:246698575..246701434,3	MCF-7	breast:
6	chr1:246672116..246673896-chr1:246728925..246730470,2	MCF-7	breast:
7	chr1:246671783..246672632-chr1:246690944..246691587,2	MCF-7	breast:
8	chr1:246692831..246695438-chr1:246704915..246707883,3	K562	blood:
9	chr1:246667355..246669348-chr1:246768936..246771912,2	K562	blood:
10	chr1:246675941..246677837-chr1:246690243..246691977,2	K562	blood:
11	chr1:246680075..246681714-chr1:246684033..246686969,2	K562	blood:
12	chr1:246606314..246608137-chr1:246622294..246625192,2	K562	blood:
13	chr1:246660152..246661220-chr1:246692463..246693268,3	MCF-7	breast:
14	chr1:246666744..246667331-chr1:246771870..246772573,2	MCF-7	breast:
15	chr1:246601398..246602968-chr1:246608645..246610386,2	K562	blood:
16	chr1:246587797..246590207-chr1:246590613..246593809,3	K562	blood:
17	chr1:246660152..246661220-chr1:246692463..246693268,3	MCF-7	breast:
18	chr1:246661655..246664160-chr1:246664640..246667505,3	K562	blood:
19	chr1:245319905..245320442-chr1:246655652..246656156,2	K562	blood:
20	chr1:246698102..246699613-chr1:246703690..246706174,2	K562	blood:
21	chr1:246618350..246620200-chr1:246622120..246624573,2	K562	blood:
22	chr1:246175245..246176233-chr1:246613342..246615151,4	MCF-7	breast:
23	chr1:246658777..246661380-chr1:246664894..246666631,2	K562	blood:
24	chr1:246668302..246670787-chr1:246727323..246729930,4	MCF-7	breast:
25	chr1:246669150..246672151-chr1:246672470..246677945,5	K562	blood:
26	chr1:246661655..246664160-chr1:246664640..246667505,3	K562	blood:
27	chr1:246635326..246636965-chr1:246661670..246663284,2	K562	blood:
28	chr1:246594102..246596959-chr1:246598193..246600594,2	K562	blood:
29	chr1:246660387..246663593-chr1:246664027..246666681,4	MCF-7	breast:
30	chr1:246579015..246582043-chr1:246583981..246587038,3	K562	blood:
31	chr1:246618350..246620200-chr1:246622120..246624573,2	K562	blood:
32	chr1:246175508..246176198-chr1:246613763..246614605,2	K562	blood:
33	chr1:246679194..246683104-chr1:246689621..246693878,4	K562	blood:
34	chr1:246693616..246696084-chr1:246696950..246700656,3	K562	blood:
35	chr1:246444872..246446533-chr1:246597803..246600502,2	MCF-7	breast:
36	chr1:246660290..246661312-chr1:246861799..246863185,8	K562	blood:
37	chr1:246660382..246660965-chr1:246695565..246696089,2	MCF-7	breast:
38	chr1:246660320..246661257-chr1:246916886..246917830,4	K562	blood:
39	chr1:246693616..246696084-chr1:246696950..246700656,3	K562	blood:
40	chr1:246600615..246602867-chr1:246611265..246613184,2	K562	blood:
41	chr1:246280440..246281134-chr1:246613800..246614445,2	MCF-7	breast:
42	chr1:246660669..246662784-chr1:246700415..246702206,2	MCF-7	breast:
43	chr1:246699626..246702195-chr1:246706012..246708369,2	MCF-7	breast:
44	chr1:246601398..246602968-chr1:246608645..246610386,2	K562	blood:
45	chr1:246671783..246672632-chr1:246690944..246691587,2	MCF-7	breast:
46	chr1:246665883..246667427-chr1:246669091..246670880,2	K562	blood:
47	chr1:246643346..246644875-chr1:246651223..246652948,2	K562	blood:
48	chr1:246694155..246697194-chr1:246698575..246701434,3	MCF-7	breast:
49	chr1:246643346..246644875-chr1:246651223..246652948,2	K562	blood:
50	chr1:246606314..246608137-chr1:246622294..246625192,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNST-2	chr1:246690332-246690503	NONHSAT010708
2	lnc-CNST-2	chr1:246691213-246691457	NONHSAT010708
3	lnc-TFB2M-3	chr1:246691864-246692143	NONHSAT010709

No data

Variant related genes	Relation type
ENSG00000227728	TF binding region
ENSG00000229112	TF binding region
SMYD3	TF binding region
ENSG00000242042	TF binding region
ENSG00000230813	TF binding region
ENSG00000207326	TF binding region
ENSG00000227728	CpG island
ENSG00000229112	CpG island
SMYD3	CpG island
ENSG00000242042	CpG island
ENSG00000230813	CpG island
ENSG00000207326	CpG island
ENSG00000162851	chromatin interactions
ENSG00000207326	chromatin interactions
ENSG00000162852	chromatin interactions
ENSG00000185420	chromatin interactions
ENSG00000230813	chromatin interactions
ENSG00000229112	chromatin interactions
ENSG00000227728	chromatin interactions
ENSG00000166471	chromatin interactions
ENSG00000225300	chromatin interactions

Extended variants
information (count: 4794 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:4794 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556549354	chr1:246585399-246585400	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs143470080	chr1:246585412-246585413	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs372242485	chr1:246585431-246585432	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs75804400	chr1:246585474-246585475	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs555936912	chr1:246585561-246585562	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185896467	chr1:246585570-246585571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12042241	chr1:246585575-246585576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs367745899	chr1:246585609-246585610	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs575994741	chr1:246585641-246585642	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371493041	chr1:246585646-246585647	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs556212685	chr1:246585723-246585724	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs397731692	chr1:246585731-246585732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373777305	chr1:246585732-246585733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375534259	chr1:246585752-246585753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376841337	chr1:246585759-246585760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190808684	chr1:246585841-246585842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs146730883	chr1:246585880-246585881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577886024	chr1:246585889-246585890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568539507	chr1:246585920-246585921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs139277492	chr1:246585926-246585927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563419597	chr1:246585970-246585971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528926439	chr1:246585989-246585990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542257740	chr1:246586005-246586006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149799697	chr1:246586015-246586016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528183983	chr1:246586095-246586096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568099135	chr1:246586250-246586251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs182629343	chr1:246586287-246586288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12046533	chr1:246586319-246586320	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111230020	chr1:246586323-246586324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541678525	chr1:246586325-246586326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs145740349	chr1:246586331-246586332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535890070	chr1:246586365-246586366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555799955	chr1:246586372-246586373	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566038066	chr1:246586375-246586376	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535145793	chr1:246586397-246586398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs558262421	chr1:246586405-246586406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577803806	chr1:246586409-246586410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs56668225	chr1:246586414-246586415	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs77826616	chr1:246586456-246586457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529953406	chr1:246586468-246586469	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550459928	chr1:246586534-246586535	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs186484874	chr1:246586541-246586542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558938177	chr1:246586554-246586555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs191518770	chr1:246586585-246586586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs544729091	chr1:246586590-246586591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11386183	chr1:246586598-246586599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564618895	chr1:246586658-246586659	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529335748	chr1:246586777-246586778	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566594160	chr1:246586818-246586819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10924727	chr1:246586841-246586842	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:89)

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
Non-syndromic sensorineural hearing loss	19036926	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1370 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246554600-246594800	Weak transcription	Right Ventricle	heart
2	chr1:246557200-246590800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:246576400-246588600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:246577200-246588600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:246577200-246588600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:246577200-246588600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:246580000-246592000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:246580800-246592000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:246580800-246598400	Weak transcription	A549	lung
10	chr1:246581000-246608200	Weak transcription	Aorta	Aorta
11	chr1:246581200-246588400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:246581400-246588800	Weak transcription	HepG2	liver
13	chr1:246582000-246601600	Weak transcription	Primary T cells from cord blood	blood
14	chr1:246583000-246588400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:246583200-246588400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:246583200-246591000	Weak transcription	Dnd41	blood
17	chr1:246583800-246588600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:246584000-246588400	Weak transcription	K562	blood
19	chr1:246584000-246591400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:246584400-246585400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:246584600-246585400	Enhancers	HSMM	muscle
22	chr1:246584600-246585400	Enhancers	Osteobl	bone
23	chr1:246584800-246585400	Enhancers	NHDF-Ad	bronchial
24	chr1:246585000-246585400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:246585000-246585400	Enhancers	Brain Substantia Nigra	brain
26	chr1:246585000-246585400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr1:246585200-246585400	Enhancers	NHLF	lung
28	chr1:246585400-246586200	Weak transcription	HSMM	muscle
29	chr1:246585400-246586600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:246585400-246590800	Weak transcription	Osteobl	bone
31	chr1:246585400-246591000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:246585400-246591800	Weak transcription	NHLF	lung
33	chr1:246588200-246588400	Enhancers	HMEC	breast
34	chr1:246588200-246588400	Enhancers	NHEK	skin
35	chr1:246588400-246588800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:246588400-246588800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:246588400-246588800	Flanking Active TSS	HMEC	breast
38	chr1:246588400-246589200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:246588400-246589200	Enhancers	Fetal Intestine Large	intestine
40	chr1:246588400-246589200	Flanking Active TSS	K562	blood
41	chr1:246588400-246589200	Flanking Active TSS	NHEK	skin
42	chr1:246588400-246589400	Enhancers	Fetal Intestine Small	intestine
43	chr1:246588400-246589800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:246588400-246590000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:246588600-246589000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:246588600-246589000	Enhancers	Duodenum Mucosa	Duodenum
47	chr1:246588600-246589000	Enhancers	Gastric	stomach
48	chr1:246588600-246589200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:246588600-246589200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr1:246588600-246589200	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links