Variant report

Variant	nsv549523
Chromosome Location	chr1:246121056-246146137
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	ATF1	chr1:246124589-246124813	K562	blood:	n/a	n/a
2	CEBPB	chr1:246143607-246143919	IMR90	lung:	n/a	chr1:246143772-246143783 chr1:246143772-246143785
3	CEBPB	chr1:246143669-246143925	K562	blood:	n/a	chr1:246143772-246143783 chr1:246143772-246143785
4	CEBPB	chr1:246134625-246134978	HepG2	liver:	n/a	chr1:246134801-246134810 chr1:246134801-246134812 chr1:246134799-246134810 chr1:246134799-246134812 chr1:246134799-246134812 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134812
5	CEBPB	chr1:246143723-246143859	Hela-S3	cervix:	n/a	chr1:246143772-246143783 chr1:246143772-246143785
6	CEBPB	chr1:246136065-246136285	A549	lung:	n/a	n/a
7	CEBPB	chr1:246135997-246136310	IMR90	lung:	n/a	n/a
8	CEBPB	chr1:246125684-246125791	HepG2	liver:	n/a	chr1:246125707-246125718
9	CEBPB	chr1:246134778-246134888	Hela-S3	cervix:	n/a	chr1:246134801-246134810 chr1:246134801-246134812 chr1:246134799-246134810 chr1:246134799-246134812 chr1:246134799-246134812 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134812
10	CEBPB	chr1:246134710-246134994	ECC-1	luminal epithelium:	n/a	chr1:246134801-246134810 chr1:246134801-246134812 chr1:246134799-246134810 chr1:246134799-246134812 chr1:246134799-246134812 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134812
11	CEBPB	chr1:246134614-246134989	K562	blood:	n/a	chr1:246134801-246134810 chr1:246134801-246134812 chr1:246134799-246134810 chr1:246134799-246134812 chr1:246134799-246134812 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134812
12	CEBPB	chr1:246142285-246142583	IMR90	lung:	n/a	n/a
13	CEBPB	chr1:246134659-246134971	A549	lung:	n/a	chr1:246134801-246134810 chr1:246134801-246134812 chr1:246134799-246134810 chr1:246134799-246134812 chr1:246134799-246134812 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134812
14	CEBPB	chr1:246134525-246135307	IMR90	lung:	n/a	chr1:246134801-246134810 chr1:246134801-246134812 chr1:246134799-246134810 chr1:246134799-246134812 chr1:246134799-246134812 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134810 chr1:246134801-246134812
15	CEBPB	chr1:246143631-246143913	HepG2	liver:	n/a	chr1:246143772-246143783 chr1:246143772-246143785
16	CEBPB	chr1:246143664-246143900	H1-hESC	embryonic stem cell:	n/a	chr1:246143772-246143783 chr1:246143772-246143785
17	CEBPB	chr1:246136032-246136299	HepG2	liver:	n/a	n/a
18	CTCF	chr1:246124280-246124430	Caco-2	colon:	n/a	n/a
19	CTCF	chr1:246121720-246121870	BE2_C	brain:	n/a	n/a
20	EBF1	chr1:246124213-246124256	GM12878	blood:	n/a	n/a
21	EP300	chr1:246124542-246124875	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr1:246132175-246133433	SK-N-SH	brain:	n/a	n/a
23	EP300	chr1:246124343-246125156	SK-N-SH	brain:	n/a	n/a
24	EP300	chr1:246124535-246124952	SK-N-SH_RA	brain:	n/a	n/a
25	EP300	chr1:246132350-246133217	SK-N-SH	brain:	n/a	n/a
26	EP300	chr1:246128813-246128887	GM12878	blood:	n/a	n/a
27	EP300	chr1:246132329-246133362	SK-N-SH	brain:	n/a	n/a
28	EP300	chr1:246132537-246133081	SK-N-SH_RA	brain:	n/a	n/a
29	EP300	chr1:246124325-246125600	SK-N-SH	brain:	n/a	chr1:246125373-246125380 chr1:246125529-246125542
30	EP300	chr1:246132560-246133111	SK-N-SH_RA	brain:	n/a	n/a
31	FOS	chr1:246142327-246142566	MCF10A-Er-Src	breast:	n/a	chr1:246142422-246142430 chr1:246142422-246142431 chr1:246142421-246142430 chr1:246142423-246142430
32	FOS	chr1:246142275-246142598	MCF10A-Er-Src	breast:	n/a	chr1:246142422-246142430 chr1:246142422-246142431 chr1:246142421-246142430 chr1:246142423-246142430
33	FOS	chr1:246142269-246142548	MCF10A-Er-Src	breast:	n/a	chr1:246142422-246142430 chr1:246142422-246142431 chr1:246142421-246142430 chr1:246142423-246142430
34	FOS	chr1:246123527-246123755	HUVEC	blood vessel:	n/a	n/a
35	FOS	chr1:246142281-246142504	MCF10A-Er-Src	breast:	n/a	chr1:246142422-246142430 chr1:246142422-246142431 chr1:246142421-246142430 chr1:246142423-246142430
36	FOS	chr1:246128715-246128990	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr1:246128784-246128920	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr1:246132634-246132923	HUVEC	blood vessel:	n/a	chr1:246132743-246132753 chr1:246132743-246132753 chr1:246132742-246132753 chr1:246132743-246132753 chr1:246132743-246132753 chr1:246132852-246132861
39	FOSL2	chr1:246142116-246142733	SK-N-SH	brain:	n/a	chr1:246142422-246142430 chr1:246142422-246142431 chr1:246142421-246142430 chr1:246142423-246142430
40	FOSL2	chr1:246132403-246133119	SK-N-SH	brain:	n/a	chr1:246132743-246132753 chr1:246132743-246132753 chr1:246132743-246132753 chr1:246132743-246132753 chr1:246132852-246132861
41	FOXA1	chr1:246126955-246127380	HepG2	liver:	n/a	n/a
42	FOXA1	chr1:246126970-246127421	HepG2	liver:	n/a	n/a
43	FOXA1	chr1:246126955-246127269	HepG2	liver:	n/a	n/a
44	FOXA1	chr1:246126969-246127358	HepG2	liver:	n/a	n/a
45	FOXA2	chr1:246126994-246127227	HepG2	liver:	n/a	n/a
46	FOXA2	chr1:246132896-246133044	HepG2	liver:	n/a	n/a
47	GATA3	chr1:246142081-246142685	SK-N-SH	brain:	n/a	n/a
48	GATA3	chr1:246132362-246133312	SK-N-SH	brain:	n/a	chr1:246132742-246132751 chr1:246132747-246132754
49	GATA3	chr1:246124282-246125106	SK-N-SH	brain:	n/a	n/a
50	GATA3	chr1:246124381-246125070	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246136645-246136695	K562	blood:	n/a
2	chr1:246125159-246125209	SK-N-SH	brain:	n/a
3	chr1:246139168-246139218	HEK293	kidney:	embryo
4	chr1:246132061-246132111	AoSMC	blood vessel:	n/a
5	chr1:246141809-246141859	SK-N-MC	brain:	n/a
6	chr1:246139168-246139218	LNCaP	prostate:	n/a
7	chr1:246141809-246141859	CMK	blood:	n/a
8	chr1:246141809-246141859	AG09319	gingival:	n/a
9	chr1:246125159-246125209	BE2_C	brain:	n/a
10	chr1:246135274-246135324	H1-hESC	embryonic stem cell:	embryo
11	chr1:246135274-246135324	HEEpiC	esophagus:	n/a
12	chr1:246141809-246141859	HCPEpiC	choroid plexus:	n/a
13	chr1:246140350-246140400	HCF	heart:	n/a
14	chr1:246132061-246132111	HNPCEpiC	eye:	n/a
15	chr1:246140350-246140400	HNPCEpiC	eye:	n/a
16	chr1:246135274-246135324	PrEC	prostate:	n/a
17	chr1:246132061-246132111	GM12878	blood:	n/a
18	chr1:246132061-246132111	SKMC	muscle:	n/a
19	chr1:246135274-246135324	SK-N-MC	brain:	n/a
20	chr1:246136645-246136695	IMR90	lung:	fetal
21	chr1:246132061-246132111	U87	brain:	n/a
22	chr1:246139198-246139248	HCPEpiC	choroid plexus:	n/a
23	chr1:246141809-246141859	RPTEC	kidney:	n/a
24	chr1:246139168-246139218	H1-hESC	embryonic stem cell:	embryo
25	chr1:246139198-246139248	U87	brain:	n/a
26	chr1:246139168-246139218	HIPEpiC	eye:	n/a
27	chr1:246135274-246135324	HCM	heart:	n/a
28	chr1:246135274-246135324	HRCEpiC	kidney:	n/a
29	chr1:246136645-246136695	A549	lung:	n/a
30	chr1:246125159-246125209	NH-A	brain:	n/a
31	chr1:246141809-246141859	AoSMC	blood vessel:	n/a
32	chr1:246140350-246140400	NB4	blood:	n/a
33	chr1:246139168-246139218	AG09309	skin:	n/a
34	chr1:246135274-246135324	BE2_C	brain:	n/a
35	chr1:246132061-246132111	H1-hESC	embryonic stem cell:	embryo
36	chr1:246136645-246136695	Jurkat	blood:	n/a
37	chr1:246139198-246139248	SAEC	small airway:	n/a
38	chr1:246132061-246132111	SK-N-MC	brain:	n/a
39	chr1:246136645-246136695	BE2_C	brain:	n/a
40	chr1:246135274-246135324	SK-N-SH_RA	brain:	n/a
41	chr1:246136645-246136695	GM12891	blood:	n/a
42	chr1:246140350-246140400	IMR90	lung:	fetal
43	chr1:246132061-246132111	AG09309	skin:	n/a
44	chr1:246136645-246136695	GM12892	blood:	n/a
45	chr1:246139198-246139248	HMEC	breast:	n/a
46	chr1:246125159-246125209	HUVEC	blood vessel:	n/a
47	chr1:246132061-246132111	GM12892	blood:	n/a
48	chr1:246125159-246125209	HCT-116	colon:	n/a
49	chr1:246139168-246139218	HRCEpiC	kidney:	n/a
50	chr1:246139168-246139218	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:246131436..246134219-chr1:246149088..246150607,2	K562	blood:
2	chr1:246134207..246135814-chr1:246149657..246151496,2	K562	blood:
3	chr1:245417790..245419955-chr1:246144288..246146281,2	K562	blood:
4	chr1:246127855..246130595-chr1:246132443..246134267,2	K562	blood:
5	chr1:246126390..246128678-chr1:246132301..246134356,2	K562	blood:
6	chr1:246130619..246132818-chr1:246134043..246137611,3	K562	blood:
7	chr1:246135463..246139176-chr1:246139758..246143490,7	K562	blood:
8	chr1:246122598..246124565-chr1:246135159..246137741,2	K562	blood:
9	chr1:246122598..246124565-chr1:246135159..246137741,2	K562	blood:
10	chr1:246140596..246144250-chr1:246144492..246152738,12	K562	blood:
11	chr1:246113571..246115154-chr1:246143779..246145681,2	K562	blood:
12	chr1:246129149..246130792-chr1:246136104..246138621,2	K562	blood:
13	chr1:246118130..246122848-chr1:246123381..246128902,9	K562	blood:
14	chr1:246142546..246145301-chr1:246200971..246203957,2	K562	blood:
15	chr1:246126390..246128678-chr1:246132301..246134356,2	K562	blood:
16	chr1:246135463..246139176-chr1:246139758..246143490,7	K562	blood:
17	chr1:246114942..246117508-chr1:246123579..246126563,3	K562	blood:
18	chr1:246129149..246130792-chr1:246136104..246138621,2	K562	blood:
19	chr1:246136247..246139176-chr1:246140160..246143490,5	K562	blood:
20	chr1:246130619..246132818-chr1:246134043..246137611,3	K562	blood:
21	chr1:246129359..246131604-chr1:246142419..246144141,2	K562	blood:
22	chr1:246125821..246128202-chr1:246128524..246131405,2	K562	blood:
23	chr1:246125821..246128202-chr1:246128524..246131405,2	K562	blood:
24	chr1:246127855..246130595-chr1:246132443..246134267,2	K562	blood:
25	chr1:246140863..246143596-chr1:246281335..246283913,2	K562	blood:
26	chr1:246115508..246118574-chr1:246120452..246123477,3	K562	blood:
27	chr1:246136247..246139176-chr1:246140160..246143490,5	K562	blood:
28	chr1:246129359..246131604-chr1:246142419..246144141,2	K562	blood:

Variant related genes	Relation type
SMYD3	TF binding region
SMYD3	CpG island
ENSG00000185420	chromatin interactions

Extended variants
information (count: 1131 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1131 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386641643	chr1:246121056-246121057	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6677927	chr1:246121057-246121058	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115633343	chr1:246121124-246121125	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542309706	chr1:246121164-246121165	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191293333	chr1:246121169-246121170	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367840898	chr1:246121208-246121209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567487261	chr1:246121213-246121214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73130335	chr1:246121241-246121242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546845444	chr1:246121250-246121251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182831609	chr1:246121256-246121257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539016251	chr1:246121277-246121278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572466722	chr1:246121291-246121292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569310581	chr1:246121321-246121322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201378854	chr1:246121331-246121332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187730410	chr1:246121332-246121333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565007206	chr1:246121338-246121339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532354718	chr1:246121348-246121349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12565178	chr1:246121349-246121350	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553992495	chr1:246121398-246121399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552770628	chr1:246121401-246121402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372932335	chr1:246121408-246121409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577102543	chr1:246121413-246121414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545761489	chr1:246121416-246121417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114428464	chr1:246121453-246121454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562651038	chr1:246121454-246121455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12081022	chr1:246121495-246121496	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs144644666	chr1:246121504-246121505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193210354	chr1:246121519-246121520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530193360	chr1:246121534-246121535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12568959	chr1:246121605-246121606	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs567153739	chr1:246121608-246121609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185556649	chr1:246121609-246121610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568061385	chr1:246121710-246121711	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs115211973	chr1:246121747-246121748	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs386641644	chr1:246121828-246121829	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs78950059	chr1:246121829-246121830	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs369922261	chr1:246121836-246121837	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs187283679	chr1:246121865-246121866	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs192169614	chr1:246121872-246121873	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs148453549	chr1:246121907-246121908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149901924	chr1:246121929-246121930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561791857	chr1:246122009-246122010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545745193	chr1:246122012-246122013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371430049	chr1:246122016-246122017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7535212	chr1:246122044-246122045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs184463308	chr1:246122077-246122078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58082479	chr1:246122163-246122164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145269852	chr1:246122164-246122165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540802536	chr1:246122210-246122211	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147194259	chr1:246122219-246122220	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	21858162	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
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246103800-246132600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:246112600-246127400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:246112600-246132000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:246117800-246123600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:246118000-246121200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:246118000-246121200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:246118000-246124400	Weak transcription	Fetal Kidney	kidney
8	chr1:246118000-246132200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:246118000-246132200	Weak transcription	Psoas Muscle	Psoas
10	chr1:246118200-246121400	Weak transcription	Fetal Stomach	stomach
11	chr1:246118200-246123200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:246118200-246132600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:246119400-246121400	Enhancers	HUVEC	blood vessel
14	chr1:246119600-246121200	Genic enhancers	K562	blood
15	chr1:246120000-246122800	Weak transcription	GM12878-XiMat	blood
16	chr1:246120000-246125000	Weak transcription	Placenta	Placenta
17	chr1:246120200-246123600	Weak transcription	Osteobl	bone
18	chr1:246120200-246124400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:246120400-246123400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:246120400-246124000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:246120400-246124200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:246121000-246166200	Weak transcription	Primary T cells from cord blood	blood
23	chr1:246121200-246122200	Weak transcription	K562	blood
24	chr1:246121400-246122000	Enhancers	Fetal Stomach	stomach
25	chr1:246122000-246124400	Weak transcription	Fetal Stomach	stomach
26	chr1:246122200-246122800	Genic enhancers	K562	blood
27	chr1:246122400-246132000	Weak transcription	HSMM	muscle
28	chr1:246122800-246123000	ZNF genes & repeats	GM12878-XiMat	blood
29	chr1:246122800-246123800	Strong transcription	K562	blood
30	chr1:246123200-246125400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:246123400-246124800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:246123600-246124000	Enhancers	Osteobl	bone
33	chr1:246123600-246125400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:246123800-246124400	Weak transcription	K562	blood
35	chr1:246124000-246125000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:246124200-246124800	Enhancers	NHLF	lung
37	chr1:246124200-246125200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:246124400-246125400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:246124400-246125400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:246124400-246125400	Enhancers	Fetal Kidney	kidney
41	chr1:246124400-246125400	Enhancers	Fetal Stomach	stomach
42	chr1:246124400-246125400	Enhancers	HSMMtube	muscle
43	chr1:246124400-246125600	Enhancers	K562	blood
44	chr1:246124400-246125600	Enhancers	NHDF-Ad	bronchial
45	chr1:246124400-246125800	Enhancers	Fetal Lung	lung
46	chr1:246124800-246125400	Enhancers	Fetal Heart	heart
47	chr1:246124800-246132000	Weak transcription	NHLF	lung
48	chr1:246125000-246125800	Enhancers	Placenta	Placenta
49	chr1:246125400-246127400	Weak transcription	Fetal Kidney	kidney
50	chr1:246125400-246132000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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