Variant report

Variant	nsv831348
Chromosome Location	chr1:145210345-145308825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2032)
CpG islands
(count:305)
Chromatin interactive
region (count:34)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2032 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:145246167-145246562	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:145289928-145289938	K562	blood:	n/a	n/a
3	ARID3A	chr1:145253698-145253898	K562	blood:	n/a	n/a
4	ARID3A	chr1:145293424-145293644	K562	blood:	n/a	n/a
5	ARID3A	chr1:145254404-145254507	K562	blood:	n/a	n/a
6	ATF1	chr1:145293304-145293510	K562	blood:	n/a	n/a
7	ATF1	chr1:145292274-145292564	K562	blood:	n/a	n/a
8	ATF1	chr1:145254447-145254481	K562	blood:	n/a	n/a
9	ATF1	chr1:145216140-145216326	K562	blood:	n/a	n/a
10	ATF2	chr1:145233655-145233883	GM12878	blood:	n/a	n/a
11	ATF2	chr1:145291190-145292070	GM12878	blood:	n/a	n/a
12	BACH1	chr1:145254231-145254659	K562	blood:	n/a	n/a
13	BACH1	chr1:145292365-145292516	K562	blood:	n/a	n/a
14	BACH1	chr1:145254230-145254652	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr1:145253854-145253876	K562	blood:	n/a	n/a
16	BATF	chr1:145304748-145305052	GM12878	blood:	n/a	n/a
17	BATF	chr1:145210057-145210394	GM12878	blood:	n/a	n/a
18	BATF	chr1:145212132-145212476	GM12878	blood:	n/a	n/a
19	BATF	chr1:145285189-145285435	GM12878	blood:	n/a	n/a
20	BATF	chr1:145212001-145212472	GM12878	blood:	n/a	n/a
21	BATF	chr1:145297112-145297381	GM12878	blood:	n/a	n/a
22	BATF	chr1:145293025-145293677	GM12878	blood:	n/a	n/a
23	BATF	chr1:145296560-145296816	GM12878	blood:	n/a	n/a
24	BATF	chr1:145281369-145281733	GM12878	blood:	n/a	n/a
25	BATF	chr1:145213599-145213876	GM12878	blood:	n/a	n/a
26	BATF	chr1:145231709-145232035	GM12878	blood:	n/a	n/a
27	BATF	chr1:145299644-145300057	GM12878	blood:	n/a	n/a
28	BATF	chr1:145259491-145259713	GM12878	blood:	n/a	chr1:145259620-145259631
29	BATF	chr1:145277155-145277522	GM12878	blood:	n/a	n/a
30	BATF	chr1:145233198-145234079	GM12878	blood:	n/a	n/a
31	BATF	chr1:145277151-145277624	GM12878	blood:	n/a	n/a
32	BATF	chr1:145234955-145235323	GM12878	blood:	n/a	n/a
33	BATF	chr1:145291523-145292252	GM12878	blood:	n/a	n/a
34	BATF	chr1:145219743-145220000	GM12878	blood:	n/a	n/a
35	BATF	chr1:145290357-145290900	GM12878	blood:	n/a	n/a
36	BATF	chr1:145260188-145260447	GM12878	blood:	n/a	n/a
37	BATF	chr1:145296892-145297102	GM12878	blood:	n/a	n/a
38	BATF	chr1:145218967-145219192	GM12878	blood:	n/a	chr1:145218977-145218990
39	BATF	chr1:145291553-145291993	GM12878	blood:	n/a	n/a
40	BATF	chr1:145304760-145305106	GM12878	blood:	n/a	n/a
41	BATF	chr1:145210338-145210530	GM12878	blood:	n/a	n/a
42	BATF	chr1:145293193-145293698	GM12878	blood:	n/a	n/a
43	BATF	chr1:145233237-145234045	GM12878	blood:	n/a	n/a
44	BATF	chr1:145234968-145235329	GM12878	blood:	n/a	n/a
45	BATF	chr1:145234411-145234753	GM12878	blood:	n/a	n/a
46	BCL11A	chr1:145233149-145234028	GM12878	blood:	n/a	n/a
47	BCL11A	chr1:145277160-145277602	GM12878	blood:	n/a	n/a
48	BCL11A	chr1:145226112-145226390	GM12878	blood:	n/a	chr1:145226287-145226296
49	BCL11A	chr1:145227104-145227285	GM12878	blood:	n/a	n/a
50	BCL11A	chr1:145246837-145247151	GM12878	blood:	n/a	chr1:145246927-145246934

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:145302551-145302601	BE2_C	brain:	n/a
2	chr1:145211389-145211439	Jurkat	blood:	n/a
3	chr1:145250914-145250964	AG04450	lung:	fetal
4	chr1:145302551-145302601	HMEC	breast:	n/a
5	chr1:145211389-145211439	HEEpiC	esophagus:	n/a
6	chr1:145301948-145301998	SAEC	small airway:	n/a
7	chr1:145211389-145211439	BJ	skin:	n/a
8	chr1:145213338-145213388	Hepatocyte	liver:	n/a
9	chr1:145301948-145301998	GM12878	blood:	n/a
10	chr1:145213338-145213388	SK-N-MC	brain:	n/a
11	chr1:145302551-145302601	Caco-2	colon:	n/a
12	chr1:145211389-145211439	HRE	kidney:	n/a
13	chr1:145302551-145302601	Hela-S3	cervix:	n/a
14	chr1:145250914-145250964	LNCaP	prostate:	n/a
15	chr1:145211389-145211439	H1-hESC	embryonic stem cell:	embryo
16	chr1:145211389-145211439	LNCaP	prostate:	n/a
17	chr1:145211389-145211439	GM12891	blood:	n/a
18	chr1:145213338-145213388	SK-N-SH_RA	brain:	n/a
19	chr1:145213338-145213388	HEK293	kidney:	embryo
20	chr1:145301948-145301998	AG04450	lung:	fetal
21	chr1:145213338-145213388	SK-N-SH	brain:	n/a
22	chr1:145250914-145250964	NHBE	bronchial:	n/a
23	chr1:145211389-145211439	Hepatocyte	liver:	n/a
24	chr1:145301948-145301998	HL-60	blood:	n/a
25	chr1:145302551-145302601	Hepatocyte	liver:	n/a
26	chr1:145213338-145213388	HNPCEpiC	eye:	n/a
27	chr1:145302551-145302601	ovcar-3	ovarian:	n/a
28	chr1:145302551-145302601	NH-A	brain:	n/a
29	chr1:145302551-145302601	HUVEC	blood vessel:	n/a
30	chr1:145211389-145211439	HEK293	kidney:	embryo
31	chr1:145213338-145213388	HL-60	blood:	n/a
32	chr1:145211389-145211439	PrEC	prostate:	n/a
33	chr1:145213338-145213388	HCM	heart:	n/a
34	chr1:145301948-145301998	MCF-7	breast:	n/a
35	chr1:145302551-145302601	HCPEpiC	choroid plexus:	n/a
36	chr1:145301948-145301998	GM12892	blood:	n/a
37	chr1:145211389-145211439	HRPEpiC	eye:	n/a
38	chr1:145250914-145250964	ProgFib	skin:	n/a
39	chr1:145250914-145250964	ECC-1	luminal epithelium:	n/a
40	chr1:145211389-145211439	SK-N-MC	brain:	n/a
41	chr1:145250914-145250964	SAEC	small airway:	n/a
42	chr1:145301948-145301998	NHBE	bronchial:	n/a
43	chr1:145301948-145301998	HCPEpiC	choroid plexus:	n/a
44	chr1:145211389-145211439	NHBE	bronchial:	n/a
45	chr1:145211389-145211439	HPAEpiC	pulmonary alveolar:	n/a
46	chr1:145250914-145250964	GM06990	blood:	n/a
47	chr1:145211389-145211439	HNPCEpiC	eye:	n/a
48	chr1:145301948-145301998	HEEpiC	esophagus:	n/a
49	chr1:145301948-145301998	PANC-1	pancreas:	n/a
50	chr1:145250914-145250964	HRE	kidney:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:120576520..120578439-chr1:145242059..145244929,2	MCF-7	breast:
2	chr1:145208945..145211572-chr1:145290799..145293780,3	MCF-7	breast:
3	chr1:145264618..145267295-chr1:145381743..145384010,2	K562	blood:
4	chr1:145208945..145211572-chr1:145290799..145293780,3	MCF-7	breast:
5	chr1:145238836..145241577-chr1:145243504..145245771,2	K562	blood:
6	chr1:120574754..120575346-chr1:145245858..145246575,2	MCF-7	breast:
7	chr1:120610124..120613523-chr1:145208226..145211226,7	MCF-7	breast:
8	chr1:120562393..120564845-chr1:145256114..145258582,3	MCF-7	breast:
9	chr1:145258606..145260477-chr1:145381662..145384269,2	MCF-7	breast:
10	chr1:120573750..120576750-chr1:145244417..145247281,4	MCF-7	breast:
11	chr1:145257082..145259251-chr1:145260108..145261925,2	MCF-7	breast:
12	chr1:120533140..120534660-chr1:145287386..145288888,2	MCF-7	breast:
13	chr1:145289699..145292602-chr1:149222944..149224949,3	MCF-7	breast:
14	chr1:145290091..145292740-chr1:145382337..145384639,2	MCF-7	breast:
15	chr1:145209931..145210445-chr19:58874333..58874839,2	Hela-S3	cervix:
16	chr1:120561821..120563990-chr1:145256491..145258504,4	MCF-7	breast:
17	chr1:145246366..145248846-chr1:149222454..149225152,2	MCF-7	breast:
18	chr1:145130093..145132779-chr1:145291052..145292604,2	K562	blood:
19	chr1:120602747..120604407-chr1:145216153..145218112,2	MCF-7	breast:
20	chr1:145238836..145241577-chr1:145243504..145245771,2	K562	blood:
21	chr1:145110521..145113203-chr1:145271699..145274224,2	MCF-7	breast:
22	chr1:120555279..120557791-chr1:145264672..145267612,3	K562	blood:
23	chr1:145287740..145289244-chr18:67226861..67228381,2	MCF-7	breast:
24	chr1:120610094..120613669-chr1:145207447..145211087,11	MCF-7	breast:
25	chr1:145209043..145210611-chr1:149222292..149224968,3	MCF-7	breast:
26	chr1:145210633..145213326-chr1:149222498..149224954,2	MCF-7	breast:
27	chr1:145257082..145259251-chr1:145260108..145261925,2	MCF-7	breast:
28	chr1:145209779..145211659-chr1:145381647..145384503,2	MCF-7	breast:
29	chr1:120562041..120564945-chr1:145257130..145258905,2	K562	blood:
30	chr1:145207909..145210605-chr1:145214441..145216644,2	MCF-7	breast:
31	chr1:145291510..145293949-chr1:149222418..149224230,2	K562	blood:
32	chr1:120565033..120566748-chr1:145252742..145255259,2	MCF-7	breast:
33	chr1:145288943..145293306-chr1:149221737..149224658,6	MCF-7	breast:
34	chr1:145209133..145210911-chr1:145213297..145216185,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NOTCH2NL-2	chr1:145289770-145289906	NR_104217
2	lnc-NOTCH2NL-2	chr1:145302649-145302868	NR_104217
3	lnc-NOTCH2NL-2	chr1:145293371-145293580	NR_104217
4	lnc-NOTCH2NL-2	chr1:145301720-145301817	NR_104217
5	lnc-NOTCH2NL-2	chr1:145290429-145290511	NR_104217
6	lnc-NOTCH2NL-2	chr1:145290422-145290511	NONHSAT005883
7	lnc-NOTCH2NL-2	chr1:145305945-145305996	NR_104217
8	lnc-NOTCH2NL-2	chr1:145304447-145304652	NR_104217
9	lnc-NBPF10-1	chr1:145213108-145213374	expReg_chr1_15650_+
10	lnc-NOTCH2NL-2	chr1:145303910-145303982	NR_104217
11	lnc-NOTCH2NL-2	chr1:145290781-145290850	NONHSAT005883
12	lnc-NOTCH2NL-2	chr1:145291855-145291972	NONHSAT005883

No data

Variant related genes	Relation type
NOTCH2NL	TF binding region
NBPF10	TF binding region
NOTCH2NL	CpG island
NBPF10	CpG island
ENSG00000252211	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000163386	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000134250	chromatin interactions
ENSG00000255168	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000213240	chromatin interactions

Extended variants
information (count: 3077 )
Associated
traits (count: 171 )

Variant overlapped rSNPs/rCNVs (count:3077 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200003874	chr1:145210354-145210355	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs374598309	chr1:145210407-145210408	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs587663092	chr1:145210494-145210495	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs587720460	chr1:145210562-145210563	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs587599872	chr1:145210595-145210596	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs587669617	chr1:145210643-145210644	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs587722016	chr1:145210648-145210649	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs368016426	chr1:145210671-145210672	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs587605876	chr1:145210840-145210841	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs78074063	chr1:145211101-145211102	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs587653582	chr1:145211146-145211147	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs61814514	chr1:145211214-145211215	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs200515193	chr1:145211229-145211230	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs587745671	chr1:145211361-145211362	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs587641884	chr1:145211389-145211390	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs2489102	chr1:145211390-145211391	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs4472712	chr1:145211450-145211451	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs77835046	chr1:145211627-145211628	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs11802338	chr1:145211690-145211691	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs587723606	chr1:145211753-145211754	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs587758450	chr1:145211777-145211778	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs150121790	chr1:145211798-145211799	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200283274	chr1:145211888-145211889	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs587650128	chr1:145211926-145211927	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs587688035	chr1:145211943-145211944	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs587762979	chr1:145211965-145211966	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs587644305	chr1:145211969-145211970	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs367761938	chr1:145211976-145211977	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374482042	chr1:145211977-145211978	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201693597	chr1:145211985-145211986	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs199557176	chr1:145212006-145212007	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376954429	chr1:145212077-145212078	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs200811170	chr1:145212100-145212101	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs587679043	chr1:145212103-145212104	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369243631	chr1:145212136-145212137	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373126955	chr1:145212177-145212178	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs587766103	chr1:145212195-145212196	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs587640774	chr1:145212242-145212243	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs587720705	chr1:145212272-145212273	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs587595117	chr1:145212363-145212364	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs587648859	chr1:145212453-145212454	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs61814517	chr1:145212475-145212476	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs587704676	chr1:145212489-145212490	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368804212	chr1:145212521-145212522	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10712063	chr1:145212522-145212523	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141144107	chr1:145212524-145212525	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs587602130	chr1:145212539-145212540	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs55956944	chr1:145212614-145212615	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs75731233	chr1:145212643-145212644	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs56085206	chr1:145212646-145212647	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:171)

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
Breast cancer	17142309	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
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20531469	CNVD
Autism	20858243	CNVD
Autism	22543975	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	20808228	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	22102821	CNVD

Chromatin state (count:4361 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145208000-145211200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:145208800-145210400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:145208800-145210400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:145208800-145210400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:145208800-145210400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:145208800-145210400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:145208800-145210400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:145208800-145210400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:145208800-145210400	Active TSS	Primary monocytes fromperipheralblood	blood
10	chr1:145208800-145210400	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr1:145208800-145210400	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr1:145208800-145210400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:145208800-145210400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr1:145208800-145210400	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr1:145208800-145210400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:145208800-145210400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:145208800-145210400	Active TSS	Fetal Intestine Small	intestine
18	chr1:145208800-145210400	Active TSS	Placenta	Placenta
19	chr1:145208800-145210400	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr1:145208800-145210400	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr1:145208800-145210400	Active TSS	Stomach Smooth Muscle	stomach
22	chr1:145208800-145210400	Active TSS	Hela-S3	cervix
23	chr1:145208800-145210400	Active TSS	HepG2	liver
24	chr1:145208800-145210400	Active TSS	Monocytes-CD14+_RO01746	blood
25	chr1:145208800-145210400	Active TSS	NHEK	skin
26	chr1:145208800-145210600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:145208800-145210600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:145208800-145210600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:145208800-145210600	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr1:145208800-145210600	Active TSS	Esophagus	oesophagus
31	chr1:145208800-145210600	Active TSS	Fetal Intestine Large	intestine
32	chr1:145208800-145210600	Active TSS	Right Ventricle	heart
33	chr1:145208800-145210600	Active TSS	K562	blood
34	chr1:145208800-145210800	Active TSS	Brain Angular Gyrus	brain
35	chr1:145208800-145210800	Active TSS	Brain Germinal Matrix	brain
36	chr1:145208800-145210800	Active TSS	Colonic Mucosa	Colon
37	chr1:145208800-145210800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr1:145208800-145210800	Active TSS	Left Ventricle	heart
39	chr1:145208800-145210800	Active TSS	Pancreas	Pancrea
40	chr1:145208800-145211000	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr1:145208800-145211000	Active TSS	Muscle Satellite Cultured Cells	--
42	chr1:145208800-145211000	Active TSS	HMEC	breast
43	chr1:145208800-145211000	Active TSS	Osteobl	bone
44	chr1:145208800-145211200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:145208800-145211200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:145208800-145211200	Active TSS	Brain Hippocampus Middle	brain
47	chr1:145208800-145211200	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr1:145208800-145211200	Active TSS	Fetal Brain Female	brain
49	chr1:145208800-145211200	Active TSS	HSMM	muscle
50	chr1:145208800-145211200	Active TSS	NHLF	lung

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