Variant report

Variant	esv1843448
Chromosome Location	chr1:145212590-145302482
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1813)
CpG islands
(count:184)
Chromatin interactive
region (count:28)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1813 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:145253698-145253898	K562	blood:	n/a	n/a
2	ARID3A	chr1:145289928-145289938	K562	blood:	n/a	n/a
3	ARID3A	chr1:145254404-145254507	K562	blood:	n/a	n/a
4	ARID3A	chr1:145246167-145246562	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:145293424-145293644	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	chr1:145253854-145253876	K562	blood:	n/a	n/a
15	BACH1	chr1:145254230-145254652	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr1:145297112-145297381	GM12878	blood:	n/a	n/a
17	BATF	chr1:145219743-145220000	GM12878	blood:	n/a	n/a
18	BATF	chr1:145233198-145234079	GM12878	blood:	n/a	n/a
19	BATF	chr1:145293025-145293677	GM12878	blood:	n/a	n/a
20	BATF	chr1:145285189-145285435	GM12878	blood:	n/a	n/a
21	BATF	chr1:145291553-145291993	GM12878	blood:	n/a	n/a
22	BATF	chr1:145213599-145213876	GM12878	blood:	n/a	n/a
23	BATF	chr1:145218967-145219192	GM12878	blood:	n/a	chr1:145218977-145218990
24	BATF	chr1:145260188-145260447	GM12878	blood:	n/a	n/a
25	BATF	chr1:145299644-145300057	GM12878	blood:	n/a	n/a
26	BATF	chr1:145290357-145290900	GM12878	blood:	n/a	n/a
27	BATF	chr1:145234968-145235329	GM12878	blood:	n/a	n/a
28	BATF	chr1:145277151-145277624	GM12878	blood:	n/a	n/a
29	BATF	chr1:145234955-145235323	GM12878	blood:	n/a	n/a
30	BATF	chr1:145291523-145292252	GM12878	blood:	n/a	n/a
31	BATF	chr1:145259491-145259713	GM12878	blood:	n/a	chr1:145259620-145259631
32	BATF	chr1:145293193-145293698	GM12878	blood:	n/a	n/a
33	BATF	chr1:145296892-145297102	GM12878	blood:	n/a	n/a
34	BATF	chr1:145281369-145281733	GM12878	blood:	n/a	n/a
35	BATF	chr1:145296560-145296816	GM12878	blood:	n/a	n/a
36	BATF	chr1:145231709-145232035	GM12878	blood:	n/a	n/a
37	BATF	chr1:145234411-145234753	GM12878	blood:	n/a	n/a
38	BATF	chr1:145233237-145234045	GM12878	blood:	n/a	n/a
39	BATF	chr1:145277155-145277522	GM12878	blood:	n/a	n/a
40	BCL11A	chr1:145219707-145219881	GM12878	blood:	n/a	n/a
41	BCL11A	chr1:145277187-145277626	GM12878	blood:	n/a	n/a
42	BCL11A	chr1:145298382-145298544	GM12878	blood:	n/a	n/a
43	BCL11A	chr1:145299433-145299718	GM12878	blood:	n/a	n/a
44	BCL11A	chr1:145263771-145263992	GM12878	blood:	n/a	n/a
45	BCL11A	chr1:145227104-145227285	GM12878	blood:	n/a	n/a
46	BCL11A	chr1:145226112-145226390	GM12878	blood:	n/a	chr1:145226287-145226296
47	BCL11A	chr1:145277160-145277602	GM12878	blood:	n/a	n/a
48	BCL11A	chr1:145291532-145292185	GM12878	blood:	n/a	n/a
49	BCL11A	chr1:145246837-145247151	GM12878	blood:	n/a	chr1:145246927-145246934
50	BCL11A	chr1:145281502-145281945	GM12878	blood:	n/a	chr1:145281806-145281815

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:145213338-145213388	GM12892	blood:	n/a
2	chr1:145213338-145213388	GM12892	blood:	n/a
3	chr1:145213338-145213388	HRPEpiC	eye:	n/a
4	chr1:145250914-145250964	AoSMC	blood vessel:	n/a
5	chr1:145301948-145301998	U87	brain:	n/a
6	chr1:145213338-145213388	NHBE	bronchial:	n/a
7	chr1:145301948-145301998	HAEpiC	amniotic membrane:	n/a
8	chr1:145301948-145301998	ProgFib	skin:	n/a
9	chr1:145213338-145213388	NB4	blood:	n/a
10	chr1:145213338-145213388	Hepatocyte	liver:	n/a
11	chr1:145250914-145250964	Hela-S3	cervix:	n/a
12	chr1:145301948-145301998	T-47D	breast:	n/a
13	chr1:145250914-145250964	MCF-7	breast:	n/a
14	chr1:145250914-145250964	ECC-1	luminal epithelium:	n/a
15	chr1:145250914-145250964	MCF10A-Er-Src	breast:	n/a
16	chr1:145250914-145250964	HRPEpiC	eye:	n/a
17	chr1:145250914-145250964	AG04450	lung:	fetal
18	chr1:145250914-145250964	HIPEpiC	eye:	n/a
19	chr1:145213338-145213388	HCF	heart:	n/a
20	chr1:145213338-145213388	PANC-1	pancreas:	n/a
21	chr1:145250914-145250964	NHDF-neo	bronchial:	n/a
22	chr1:145301948-145301998	NHBE	bronchial:	n/a
23	chr1:145301948-145301998	BE2_C	brain:	n/a
24	chr1:145301948-145301998	HCM	heart:	n/a
25	chr1:145250914-145250964	SK-N-MC	brain:	n/a
26	chr1:145213338-145213388	SKMC	muscle:	n/a
27	chr1:145213338-145213388	SK-N-MC	brain:	n/a
28	chr1:145301948-145301998	SAEC	small airway:	n/a
29	chr1:145213338-145213388	BE2_C	brain:	n/a
30	chr1:145301948-145301998	HUVEC	blood vessel:	n/a
31	chr1:145301948-145301998	HRE	kidney:	n/a
32	chr1:145250914-145250964	ovcar-3	ovarian:	n/a
33	chr1:145213338-145213388	SK-N-SH_RA	brain:	n/a
34	chr1:145250914-145250964	Jurkat	blood:	n/a
35	chr1:145301948-145301998	AG09319	gingival:	n/a
36	chr1:145301948-145301998	HMEC	breast:	n/a
37	chr1:145250914-145250964	NT2-D1	testis:	n/a
38	chr1:145250914-145250964	Caco-2	colon:	n/a
39	chr1:145301948-145301998	NT2-D1	testis:	n/a
40	chr1:145250914-145250964	Hepatocyte	liver:	n/a
41	chr1:145213338-145213388	AoSMC	blood vessel:	n/a
42	chr1:145250914-145250964	PFSK-1	brain:	n/a
43	chr1:145213338-145213388	HAEpiC	amniotic membrane:	n/a
44	chr1:145250914-145250964	HRE	kidney:	n/a
45	chr1:145250914-145250964	GM19239	blood:	n/a
46	chr1:145213338-145213388	BJ	skin:	n/a
47	chr1:145301948-145301998	Jurkat	blood:	n/a
48	chr1:145213338-145213388	PrEC	prostate:	n/a
49	chr1:145213338-145213388	HEEpiC	esophagus:	n/a
50	chr1:145213338-145213388	HCT-116	colon:	n/a

(count:28 , 50 per page) page: 1

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

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NOTCH2NL-2	chr1:145290422-145290511	NONHSAT005883
2	lnc-NOTCH2NL-2	chr1:145293371-145293580	NR_104217
3	lnc-NBPF10-1	chr1:145213108-145213374	expReg_chr1_15650_+
4	lnc-NOTCH2NL-2	chr1:145291855-145291972	NONHSAT005883
5	lnc-NOTCH2NL-2	chr1:145289770-145289906	NR_104217
6	lnc-NOTCH2NL-2	chr1:145290781-145290850	NONHSAT005883
7	lnc-NOTCH2NL-2	chr1:145301720-145301817	NR_104217
8	lnc-NOTCH2NL-2	chr1:145290429-145290511	NR_104217

No data

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

Extended variants
information (count: 2782 )
Associated
traits (count: 170 )

Variant overlapped rSNPs/rCNVs (count:2782 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	rs28733928	chr1:145212680-145212681	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
5	rs587667023	chr1:145212688-145212689	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
6	rs856449	chr1:145212754-145212755	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
7	rs373827353	chr1:145212759-145212760	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
8	rs61814520	chr1:145212787-145212788	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
9	rs6670492	chr1:145212791-145212792	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
10	rs587742436	chr1:145212838-145212839	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs587621239	chr1:145212947-145212948	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12024901	chr1:145212972-145212973	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs587696752	chr1:145212993-145212994	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs55835897	chr1:145213008-145213009	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12027791	chr1:145213038-145213039	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6670127	chr1:145213056-145213057	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs28397569	chr1:145213094-145213095	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs587754132	chr1:145213106-145213107	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs587651901	chr1:145213171-145213172	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs61814522	chr1:145213209-145213210	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs587683221	chr1:145213290-145213291	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs61814523	chr1:145213313-145213314	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs10797640	chr1:145213327-145213328	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs587729063	chr1:145213347-145213348	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs12070023	chr1:145213360-145213361	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs111737603	chr1:145213394-145213395	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs587620861	chr1:145213476-145213477	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370782005	chr1:145213492-145213493	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs587684321	chr1:145213511-145213512	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs587767624	chr1:145213536-145213537	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs587636593	chr1:145213584-145213585	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs59921020	chr1:145213609-145213610	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs587693891	chr1:145213621-145213622	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs587751825	chr1:145213647-145213648	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs587650236	chr1:145213687-145213688	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201707433	chr1:145213726-145213727	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11487280	chr1:145213767-145213768	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs587707582	chr1:145213774-145213775	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2604041	chr1:145213785-145213786	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140038299	chr1:145213806-145213807	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201437732	chr1:145213870-145213871	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs371614582	chr1:145213956-145213957	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs370157923	chr1:145213957-145213958	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs587612062	chr1:145213969-145213970	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs587639165	chr1:145213994-145213995	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201305025	chr1:145214044-145214045	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs75738504	chr1:145214084-145214085	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs141567600	chr1:145214099-145214100	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201409377	chr1:145214122-145214123	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs587615429	chr1:145214160-145214161	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:170)

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

Chromatin state (count:3949 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145210200-145230400	Weak transcription	Spleen	Spleen
2	chr1:145210400-145215400	Weak transcription	Gastric	stomach
3	chr1:145210600-145214200	Enhancers	Fetal Heart	heart
4	chr1:145210600-145214600	Weak transcription	Esophagus	oesophagus
5	chr1:145210600-145214600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:145210600-145217000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:145210600-145217200	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:145210600-145219200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:145210800-145212800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:145210800-145213000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:145210800-145213400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:145210800-145213400	Enhancers	A549	lung
13	chr1:145210800-145213600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr1:145210800-145213600	Enhancers	Fetal Lung	lung
15	chr1:145210800-145213800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:145210800-145213800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:145210800-145213800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:145210800-145213800	Enhancers	NH-A	brain
19	chr1:145210800-145214000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr1:145210800-145214000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:145210800-145214000	Enhancers	Colon Smooth Muscle	Colon
22	chr1:145210800-145214000	Weak transcription	Left Ventricle	heart
23	chr1:145210800-145215400	Weak transcription	K562	blood
24	chr1:145210800-145216000	Weak transcription	Placenta	Placenta
25	chr1:145210800-145216400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:145210800-145220200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:145210800-145220200	Weak transcription	Right Ventricle	heart
28	chr1:145211400-145213400	Enhancers	Small Intestine	intestine
29	chr1:145211400-145214000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:145211600-145212600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:145211600-145212800	Enhancers	Fetal Stomach	stomach
32	chr1:145211600-145213800	Enhancers	Primary T cells from cord blood	blood
33	chr1:145211600-145215600	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:145211600-145215800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr1:145211600-145219800	Weak transcription	Brain Substantia Nigra	brain
36	chr1:145211600-145246400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:145211800-145212600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr1:145211800-145212600	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:145211800-145212600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:145211800-145212600	Weak transcription	Hela-S3	cervix
41	chr1:145211800-145212600	Enhancers	NHLF	lung
42	chr1:145211800-145212800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:145211800-145212800	Active TSS	Fetal Kidney	kidney
44	chr1:145211800-145213000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:145211800-145213000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr1:145211800-145213000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:145211800-145213000	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:145211800-145213000	Weak transcription	Psoas Muscle	Psoas
49	chr1:145211800-145213000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:145211800-145213000	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links