Variant report

Variant	nsv1010710
Chromosome Location	chr4:6771456-6810920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1582)
CpG islands
(count:733)
Chromatin interactive
region (count:88)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1582 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:6809096-6809555	K562	blood:	n/a	n/a
2	ARID3A	chr4:6781296-6781652	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:6785213-6785444	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:6810619-6810825	K562	blood:	n/a	n/a
5	ARID3A	chr4:6784249-6784526	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:6784264-6784505	K562	blood:	n/a	n/a
7	ARID3A	chr4:6775780-6776318	HepG2	liver:	n/a	n/a
8	ATF2	chr4:6784061-6784550	GM12878	blood:	n/a	chr4:6784457-6784464
9	ATF2	chr4:6784131-6784569	GM12878	blood:	n/a	chr4:6784457-6784464
10	ATF2	chr4:6784133-6784538	H1-hESC	embryonic stem cell:	n/a	chr4:6784457-6784464
11	ATF2	chr4:6784136-6784525	H1-hESC	embryonic stem cell:	n/a	chr4:6784457-6784464
12	ATF3	chr4:6784100-6784415	A549	lung:	n/a	n/a
13	ATF3	chr4:6784170-6784457	HepG2	liver:	n/a	n/a
14	ATF3	chr4:6784066-6784560	K562	blood:	n/a	n/a
15	BACH1	chr4:6810460-6810465	K562	blood:	n/a	n/a
16	BACH1	chr4:6783751-6783921	K562	blood:	n/a	n/a
17	BACH1	chr4:6783639-6784482	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr4:6785512-6785674	H1-hESC	embryonic stem cell:	n/a	n/a
19	BATF	chr4:6774932-6775183	GM12878	blood:	n/a	n/a
20	BATF	chr4:6793614-6793850	GM12878	blood:	n/a	n/a
21	BCL11A	chr4:6784226-6784443	GM12878	blood:	n/a	n/a
22	BCL3	chr4:6800169-6800416	GM12878	blood:	n/a	n/a
23	BCL3	chr4:6784201-6784588	GM12878	blood:	n/a	chr4:6784443-6784452 chr4:6784446-6784455 chr4:6784441-6784454 chr4:6784437-6784450 chr4:6784491-6784504
24	BCLAF1	chr4:6785302-6785793	GM12878	blood:	n/a	n/a
25	BCLAF1	chr4:6783957-6784552	GM12878	blood:	n/a	chr4:6784443-6784452 chr4:6784143-6784152 chr4:6784446-6784455 chr4:6784132-6784145 chr4:6784441-6784454 chr4:6784437-6784450 chr4:6784491-6784504
26	BCLAF1	chr4:6784069-6784636	GM12878	blood:	n/a	chr4:6784443-6784452 chr4:6784143-6784152 chr4:6784446-6784455 chr4:6784132-6784145 chr4:6784577-6784590 chr4:6784441-6784454 chr4:6784437-6784450 chr4:6784491-6784504
27	BHLHE40	chr4:6784194-6784440	HepG2	liver:	n/a	chr4:6784396-6784412 chr4:6784204-6784220
28	BHLHE40	chr4:6781921-6781975	K562	blood:	n/a	n/a
29	BHLHE40	chr4:6809345-6809661	K562	blood:	n/a	n/a
30	BHLHE40	chr4:6789500-6789515	GM12878	blood:	n/a	n/a
31	BHLHE40	chr4:6785224-6785666	HepG2	liver:	n/a	n/a
32	BHLHE40	chr4:6783806-6784529	GM12878	blood:	n/a	chr4:6784396-6784412 chr4:6783926-6783942 chr4:6784435-6784451 chr4:6784483-6784499 chr4:6784204-6784220 chr4:6783933-6783949
33	BHLHE40	chr4:6789865-6790196	K562	blood:	n/a	n/a
34	BHLHE40	chr4:6785060-6785632	K562	blood:	n/a	n/a
35	BHLHE40	chr4:6785032-6785673	GM12878	blood:	n/a	n/a
36	BHLHE40	chr4:6784197-6784508	HepG2	liver:	n/a	chr4:6784396-6784412 chr4:6784435-6784451 chr4:6784483-6784499 chr4:6784204-6784220
37	BHLHE40	chr4:6783997-6784491	K562	blood:	n/a	chr4:6784396-6784412 chr4:6784435-6784451 chr4:6784204-6784220
38	BHLHE40	chr4:6778796-6778818	K562	blood:	n/a	n/a
39	BRCA1	chr4:6784217-6784373	H1-hESC	embryonic stem cell:	n/a	n/a
40	BRCA1	chr4:6785048-6785330	HepG2	liver:	n/a	n/a
41	BRCA1	chr4:6784315-6784407	HepG2	liver:	n/a	n/a
42	BRCA1	chr4:6785513-6785632	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr4:6784317-6784483	GM12878	blood:	n/a	n/a
44	BRCA1	chr4:6784286-6784480	Hela-S3	cervix:	n/a	n/a
45	CBX3	chr4:6784999-6785677	K562	blood:	n/a	n/a
46	CBX3	chr4:6784166-6784518	K562	blood:	n/a	n/a
47	CBX3	chr4:6793483-6793963	K562	blood:	n/a	n/a
48	CCNT2	chr4:6783753-6785697	K562	blood:	n/a	chr4:6785286-6785295 chr4:6784996-6785005
49	CCNT2	chr4:6789941-6790056	K562	blood:	n/a	n/a
50	CCNT2	chr4:6809516-6809622	K562	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:6784379-6784429	SK-N-MC	brain:	n/a
2	chr4:6784379-6784429	SK-N-MC	brain:	n/a
3	chr4:6785192-6785242	HUVEC	blood vessel:	n/a
4	chr4:6785456-6785506	HIPEpiC	eye:	n/a
5	chr4:6783272-6783322	AG10803	skin:	n/a
6	chr4:6785456-6785506	HCM	heart:	n/a
7	chr4:6785080-6785130	NHBE	bronchial:	n/a
8	chr4:6781565-6781615	SAEC	small airway:	n/a
9	chr4:6785080-6785130	ProgFib	skin:	n/a
10	chr4:6781565-6781615	HRCEpiC	kidney:	n/a
11	chr4:6809109-6809159	ovcar-3	ovarian:	n/a
12	chr4:6783272-6783322	LNCaP	prostate:	n/a
13	chr4:6784379-6784429	AoSMC	blood vessel:	n/a
14	chr4:6784170-6784220	H1-hESC	embryonic stem cell:	embryo
15	chr4:6784175-6784225	ovcar-3	ovarian:	n/a
16	chr4:6784379-6784429	HEEpiC	esophagus:	n/a
17	chr4:6785080-6785130	AG09319	gingival:	n/a
18	chr4:6784170-6784220	ECC-1	luminal epithelium:	n/a
19	chr4:6785192-6785242	Hela-S3	cervix:	n/a
20	chr4:6784170-6784220	BJ	skin:	n/a
21	chr4:6784769-6784819	U87	brain:	n/a
22	chr4:6788637-6788687	HPAEpiC	pulmonary alveolar:	n/a
23	chr4:6809109-6809159	HIPEpiC	eye:	n/a
24	chr4:6785192-6785242	SAEC	small airway:	n/a
25	chr4:6809109-6809159	HUVEC	blood vessel:	n/a
26	chr4:6788637-6788687	NH-A	brain:	n/a
27	chr4:6784769-6784819	HMEC	breast:	n/a
28	chr4:6784170-6784220	LNCaP	prostate:	n/a
29	chr4:6785192-6785242	Hepatocyte	liver:	n/a
30	chr4:6784769-6784819	NHBE	bronchial:	n/a
31	chr4:6784175-6784225	HCF	heart:	n/a
32	chr4:6809109-6809159	SK-N-MC	brain:	n/a
33	chr4:6784175-6784225	HCT-116	colon:	n/a
34	chr4:6784170-6784220	SK-N-SH	brain:	n/a
35	chr4:6785456-6785506	BE2_C	brain:	n/a
36	chr4:6785456-6785506	Jurkat	blood:	n/a
37	chr4:6785192-6785242	NT2-D1	testis:	n/a
38	chr4:6785080-6785130	ECC-1	luminal epithelium:	n/a
39	chr4:6784175-6784225	Jurkat	blood:	n/a
40	chr4:6783850-6783900	MCF10A-Er-Src	breast:	n/a
41	chr4:6784379-6784429	GM12891	blood:	n/a
42	chr4:6784769-6784819	PrEC	prostate:	n/a
43	chr4:6784379-6784429	SK-N-SH_RA	brain:	n/a
44	chr4:6784769-6784819	HEEpiC	esophagus:	n/a
45	chr4:6783850-6783900	PFSK-1	brain:	n/a
46	chr4:6785192-6785242	NB4	blood:	n/a
47	chr4:6783272-6783322	AoSMC	blood vessel:	n/a
48	chr4:6788637-6788687	AG09319	gingival:	n/a
49	chr4:6788637-6788687	AoSMC	blood vessel:	n/a
50	chr4:6781565-6781615	NH-A	brain:	n/a

(count:88 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:6777967..6780458-chr4:6911930..6913956,2	K562	blood:
2	chr4:6719143..6723187-chr4:6778421..6780826,3	K562	blood:
3	chr4:6783899..6786313-chr4:7103315..7105730,2	K562	blood:
4	chr4:6749684..6751450-chr4:6777315..6779929,2	MCF-7	breast:
5	chr4:6761532..6764273-chr4:6769526..6771673,2	MCF-7	breast:
6	chr4:6763567..6765599-chr4:6780068..6781973,2	K562	blood:
7	chr4:6673711..6675722-chr4:6783761..6786398,3	K562	blood:
8	chr4:6771636..6774569-chr4:6777418..6780380,2	MCF-7	breast:
9	chr4:6696674..6698273-chr4:6775257..6777963,2	MCF-7	breast:
10	chr4:6722286..6724198-chr4:6771696..6774583,2	K562	blood:
11	chr4:6798617..6800822-chr4:6803678..6805749,2	K562	blood:
12	chr4:6799114..6800822-chr4:6803530..6805178,2	K562	blood:
13	chr4:6794769..6796957-chr4:6861683..6864536,2	K562	blood:
14	chr4:6715304..6719990-chr4:6783578..6787856,8	K562	blood:
15	chr4:6782968..6786550-chr4:6806465..6810202,5	K562	blood:
16	chr4:6785989..6788211-chr4:6802307..6804004,2	K562	blood:
17	chr4:6752986..6755347-chr4:6806633..6809007,2	K562	blood:
18	chr4:6783058..6785294-chr4:6987568..6991326,3	MCF-7	breast:
19	chr4:6784750..6787474-chr4:6828330..6831385,3	K562	blood:
20	chr4:6782866..6788328-chr4:6910576..6915466,10	K562	blood:
21	chr4:6717095..6725307-chr4:6781969..6787756,11	MCF-7	breast:
22	chr4:6728806..6732008-chr4:6774321..6777150,3	K562	blood:
23	chr4:6778298..6782512-chr4:6786187..6789836,5	K562	blood:
24	chr4:6786527..6789512-chr4:6797437..6799994,2	K562	blood:
25	chr4:6784965..6785634-chr6:30584880..30585661,2	Hela-S3	cervix:
26	chr4:6680506..6682367-chr4:6774203..6776092,2	K562	blood:
27	chr4:6668662..6670963-chr4:6785252..6787294,2	MCF-7	breast:
28	chr4:6716906..6725611-chr4:6782378..6786773,13	MCF-7	breast:
29	chr4:6804252..6806570-chr4:6909954..6912148,2	K562	blood:
30	chr4:6793992..6797186-chr4:6798322..6800613,3	MCF-7	breast:
31	chr4:6787283..6790705-chr4:6792040..6796597,6	K562	blood:
32	chr4:6783566..6786575-chr4:6790090..6794112,5	MCF-7	breast:
33	chr4:6781634..6783552-chr4:6783824..6785530,2	MCF-7	breast:
34	chr4:6807686..6811032-chr4:6812064..6815113,5	K562	blood:
35	chr4:6781737..6784394-chr4:7068714..7070665,2	MCF-7	breast:
36	chr4:6752367..6753201-chr4:6781735..6782455,2	MCF-7	breast:
37	chr4:6793992..6797186-chr4:6798322..6800613,3	MCF-7	breast:
38	chr4:6774575..6777494-chr4:6871884..6874561,2	MCF-7	breast:
39	chr4:6693370..6695630-chr4:6784774..6786670,2	MCF-7	breast:
40	chr4:6771876..6773951-chr4:6775064..6776789,2	MCF-7	breast:
41	chr4:6783864..6785487-chr4:6796206..6798333,2	K562	blood:
42	chr4:6787161..6789541-chr4:6790339..6792134,2	MCF-7	breast:
43	chr4:6694880..6696646-chr4:6783720..6785536,2	MCF-7	breast:
44	chr4:6786527..6789512-chr4:6797437..6799994,2	K562	blood:
45	chr4:6798617..6800822-chr4:6803678..6805749,2	K562	blood:
46	chr4:6790966..6793351-chr4:6794578..6796545,2	K562	blood:
47	chr4:6778298..6782512-chr4:6786187..6789836,5	K562	blood:
48	chr4:6804260..6807229-chr4:6809082..6812075,3	MCF-7	breast:
49	chr4:6785062..6787198-chr4:6854729..6856413,3	K562	blood:
50	chr4:6753342..6755105-chr4:6780504..6783056,2	K562	blood:

No data

Variant related genes	Relation type
KIAA0232	TF binding region
KIAA0232	CpG island
ENSG00000186222	chromatin interactions
ENSG00000251580	chromatin interactions
ENSG00000170871	chromatin interactions
ENSG00000163993	chromatin interactions
ENSG00000170846	chromatin interactions
ENSG00000245468	chromatin interactions
ENSG00000109519	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000132405	chromatin interactions
ENSG00000268791	chromatin interactions
ENSG00000204568	chromatin interactions

Extended variants
information (count: 1680 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1680 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16839290	chr4:6771456-6771457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs141492247	chr4:6771471-6771472	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560959900	chr4:6771472-6771473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6845618	chr4:6771474-6771475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs575771691	chr4:6771488-6771489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6819152	chr4:6771491-6771492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs559974106	chr4:6771509-6771510	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114379710	chr4:6771538-6771539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552065133	chr4:6771557-6771558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568970150	chr4:6771590-6771591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78409932	chr4:6771632-6771633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190744744	chr4:6771661-6771662	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568068452	chr4:6771707-6771708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576733812	chr4:6771725-6771726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533732218	chr4:6771741-6771742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs116768210	chr4:6771746-6771747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574787689	chr4:6771772-6771773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs78312100	chr4:6771786-6771787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs182094863	chr4:6771927-6771928	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs138168253	chr4:6771956-6771957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs557066535	chr4:6771957-6771958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376536874	chr4:6771958-6771959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs28540189	chr4:6772029-6772030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs116273157	chr4:6772053-6772054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186246515	chr4:6772119-6772120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73213637	chr4:6772138-6772139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs546044755	chr4:6772151-6772152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189561254	chr4:6772173-6772174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs182538264	chr4:6772178-6772179	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564293114	chr4:6772205-6772206	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146159573	chr4:6772225-6772226	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs527331060	chr4:6772261-6772262	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs367566433	chr4:6772290-6772291	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370099385	chr4:6772339-6772340	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567186448	chr4:6772386-6772387	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs538975878	chr4:6772401-6772402	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs34928817	chr4:6772403-6772404	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs200965404	chr4:6772446-6772447	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559174275	chr4:6772502-6772503	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540608179	chr4:6772505-6772506	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562401300	chr4:6772513-6772514	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569354090	chr4:6772527-6772528	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73213638	chr4:6772561-6772562	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530310400	chr4:6772566-6772567	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554682761	chr4:6772567-6772568	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs542479043	chr4:6772574-6772575	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs550562254	chr4:6772593-6772594	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540266013	chr4:6772612-6772613	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553895552	chr4:6772626-6772627	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs73796331	chr4:6772686-6772687	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2035 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6763600-6773000	Enhancers	Fetal Thymus	thymus
2	chr4:6765600-6781400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:6765800-6773800	Weak transcription	Hela-S3	cervix
4	chr4:6767600-6773200	Enhancers	Fetal Intestine Small	intestine
5	chr4:6767800-6776200	Enhancers	Duodenum Mucosa	Duodenum
6	chr4:6768800-6772800	Enhancers	Fetal Intestine Large	intestine
7	chr4:6769200-6772000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr4:6769200-6772200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr4:6769200-6772400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr4:6769400-6771800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr4:6769600-6772000	Enhancers	Primary T cells from cord blood	blood
12	chr4:6769600-6772800	Weak transcription	Fetal Heart	heart
13	chr4:6769800-6772800	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr4:6769800-6775800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr4:6770000-6771600	Enhancers	GM12878-XiMat	blood
16	chr4:6770000-6771800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr4:6770200-6771600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr4:6770200-6771600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr4:6770200-6771600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr4:6770200-6771800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr4:6770200-6771800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:6770200-6772400	Weak transcription	Lung	lung
23	chr4:6770200-6777400	Enhancers	Placenta	Placenta
24	chr4:6770400-6771600	Enhancers	Primary B cells from cord blood	blood
25	chr4:6770400-6771600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:6770400-6772400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:6770400-6772600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:6770400-6772600	Weak transcription	Adipose Nuclei	Adipose
29	chr4:6770400-6772600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr4:6770600-6771600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:6770600-6772200	Weak transcription	Esophagus	oesophagus
32	chr4:6770600-6772400	Weak transcription	Osteobl	bone
33	chr4:6770600-6772600	Weak transcription	Pancreas	Pancrea
34	chr4:6770600-6772800	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:6770600-6774000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr4:6770600-6774200	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:6770600-6774400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:6770600-6781400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:6770800-6771600	Weak transcription	Spleen	Spleen
40	chr4:6770800-6771800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:6770800-6772400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:6770800-6772400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:6770800-6772600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:6770800-6772600	Weak transcription	NHDF-Ad	bronchial
45	chr4:6770800-6773400	Weak transcription	Aorta	Aorta
46	chr4:6770800-6773400	Enhancers	Colonic Mucosa	Colon
47	chr4:6770800-6773800	Weak transcription	Right Atrium	heart
48	chr4:6770800-6774200	Weak transcription	A549	lung
49	chr4:6770800-6774600	Weak transcription	Brain Substantia Nigra	brain
50	chr4:6770800-6778800	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links