Variant report

Variant	nsv883191
Chromosome Location	chr5:177535370-177551985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1427)
CpG islands
(count:1223)
Chromatin interactive
region (count:54)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1427 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:177547880-177548189	K562	blood:	n/a	n/a
2	ARID3A	chr5:177547914-177548232	HepG2	liver:	n/a	n/a
3	ATF2	chr5:177547882-177548361	GM12878	blood:	n/a	n/a
4	ATF2	chr5:177540317-177540820	GM12878	blood:	n/a	n/a
5	ATF2	chr5:177543252-177543670	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr5:177543504-177543840	GM12878	blood:	n/a	n/a
7	ATF2	chr5:177543384-177544024	GM12878	blood:	n/a	n/a
8	ATF2	chr5:177550805-177551118	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr5:177539555-177539837	K562	blood:	n/a	n/a
10	BACH1	chr5:177540026-177540805	H1-hESC	embryonic stem cell:	n/a	chr5:177540516-177540530
11	BACH1	chr5:177541107-177541428	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr5:177542181-177542740	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr5:177543472-177543899	GM12878	blood:	n/a	n/a
14	BATF	chr5:177540367-177540632	GM12878	blood:	n/a	n/a
15	BCL11A	chr5:177543450-177543952	GM12878	blood:	n/a	chr5:177543775-177543784 chr5:177543715-177543724
16	BCL11A	chr5:177543600-177543914	GM12878	blood:	n/a	chr5:177543775-177543784 chr5:177543715-177543724
17	BCL11A	chr5:177540367-177540698	GM12878	blood:	n/a	chr5:177540531-177540540 chr5:177540641-177540650
18	BCL3	chr5:177540303-177540732	GM12878	blood:	n/a	chr5:177540531-177540540 chr5:177540356-177540369 chr5:177540641-177540650
19	BCL3	chr5:177543488-177543900	GM12878	blood:	n/a	chr5:177543775-177543784 chr5:177543715-177543724
20	BCL3	chr5:177543565-177543963	GM12878	blood:	n/a	chr5:177543775-177543784 chr5:177543715-177543724
21	BCLAF1	chr5:177547734-177548407	GM12878	blood:	n/a	n/a
22	BCLAF1	chr5:177540271-177540760	K562	blood:	n/a	chr5:177540531-177540540 chr5:177540737-177540750 chr5:177540356-177540369 chr5:177540641-177540650
23	BCLAF1	chr5:177540150-177540758	GM12878	blood:	n/a	chr5:177540531-177540540 chr5:177540737-177540750 chr5:177540356-177540369 chr5:177540263-177540271 chr5:177540641-177540650
24	BCLAF1	chr5:177540275-177540806	GM12878	blood:	n/a	chr5:177540531-177540540 chr5:177540737-177540750 chr5:177540356-177540369 chr5:177540641-177540650
25	BCLAF1	chr5:177543430-177543971	GM12878	blood:	n/a	chr5:177543775-177543784 chr5:177543715-177543724
26	BCLAF1	chr5:177543425-177543976	GM12878	blood:	n/a	chr5:177543775-177543784 chr5:177543715-177543724
27	BHLHE40	chr5:177547141-177547162	K562	blood:	n/a	n/a
28	BHLHE40	chr5:177541277-177542983	GM12878	blood:	n/a	chr5:177541384-177541400
29	BHLHE40	chr5:177547911-177548361	GM12878	blood:	n/a	n/a
30	BHLHE40	chr5:177540090-177540868	K562	blood:	n/a	chr5:177540630-177540646
31	BHLHE40	chr5:177541350-177541888	K562	blood:	n/a	chr5:177541384-177541400
32	BHLHE40	chr5:177540026-177540827	GM12878	blood:	n/a	chr5:177540630-177540646
33	BHLHE40	chr5:177547836-177548314	HepG2	liver:	n/a	n/a
34	BHLHE40	chr5:177543184-177544054	GM12878	blood:	n/a	n/a
35	BHLHE40	chr5:177547826-177548394	K562	blood:	n/a	n/a
36	BHLHE40	chr5:177542782-177542849	K562	blood:	n/a	n/a
37	BHLHE40	chr5:177543444-177543846	K562	blood:	n/a	n/a
38	BRCA1	chr5:177540990-177541441	GM12878	blood:	n/a	n/a
39	BRCA1	chr5:177540533-177540717	GM12878	blood:	n/a	n/a
40	BRCA1	chr5:177547993-177548367	HepG2	liver:	n/a	n/a
41	BRCA1	chr5:177542370-177543105	GM12878	blood:	n/a	n/a
42	BRCA1	chr5:177545653-177545816	GM12878	blood:	n/a	n/a
43	BRCA1	chr5:177543428-177543766	GM12878	blood:	n/a	n/a
44	CBX3	chr5:177543418-177543795	K562	blood:	n/a	n/a
45	CBX3	chr5:177539543-177539918	K562	blood:	n/a	n/a
46	CBX3	chr5:177539528-177540793	K562	blood:	n/a	n/a
47	CBX3	chr5:177547777-177548375	K562	blood:	n/a	n/a
48	CCNT2	chr5:177547934-177548362	K562	blood:	n/a	n/a
49	CCNT2	chr5:177540123-177541693	K562	blood:	n/a	chr5:177541562-177541571 chr5:177540483-177540492 chr5:177541203-177541212 chr5:177540790-177540799 chr5:177541358-177541367 chr5:177540826-177540835 chr5:177541035-177541044 chr5:177540816-177540825 chr5:177540465-177540474
50	CCNT2	chr5:177551327-177551508	K562	blood:	n/a	n/a

(count:1223 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177547300-177547350	HRPEpiC	eye:	n/a
2	chr5:177544994-177545044	NHBE	bronchial:	n/a
3	chr5:177541754-177541804	NB4	blood:	n/a
4	chr5:177547300-177547350	HRPEpiC	eye:	n/a
5	chr5:177544994-177545044	NHBE	bronchial:	n/a
6	chr5:177541754-177541804	NB4	blood:	n/a
7	chr5:177548050-177548100	AG09309	skin:	n/a
8	chr5:177540239-177540289	PFSK-1	brain:	n/a
9	chr5:177540566-177540616	A549	lung:	n/a
10	chr5:177548615-177548665	HRE	kidney:	n/a
11	chr5:177540452-177540502	GM19239	blood:	n/a
12	chr5:177547300-177547350	MCF-7	breast:	n/a
13	chr5:177541051-177541101	LNCaP	prostate:	n/a
14	chr5:177547067-177547117	SK-N-SH_RA	brain:	n/a
15	chr5:177548615-177548665	HCPEpiC	choroid plexus:	n/a
16	chr5:177547067-177547117	Caco-2	colon:	n/a
17	chr5:177548913-177548963	GM12891	blood:	n/a
18	chr5:177541754-177541804	AG10803	skin:	n/a
19	chr5:177540738-177540788	GM06990	blood:	n/a
20	chr5:177540239-177540289	IMR90	lung:	fetal
21	chr5:177547067-177547117	CMK	blood:	n/a
22	chr5:177540566-177540616	PANC-1	pancreas:	n/a
23	chr5:177547300-177547350	SAEC	small airway:	n/a
24	chr5:177542603-177542653	LNCaP	prostate:	n/a
25	chr5:177539937-177539987	HRE	kidney:	n/a
26	chr5:177549014-177549064	PANC-1	pancreas:	n/a
27	chr5:177548615-177548665	GM19239	blood:	n/a
28	chr5:177539998-177540048	NB4	blood:	n/a
29	chr5:177551840-177551890	GM12891	blood:	n/a
30	chr5:177540738-177540788	SK-N-SH	brain:	n/a
31	chr5:177544994-177545044	Hepatocyte	liver:	n/a
32	chr5:177548615-177548665	U87	brain:	n/a
33	chr5:177548913-177548963	PANC-1	pancreas:	n/a
34	chr5:177547300-177547350	AG04449	skin:	fetal
35	chr5:177542603-177542653	U87	brain:	n/a
36	chr5:177547067-177547117	MCF-7	breast:	n/a
37	chr5:177540566-177540616	AG09309	skin:	n/a
38	chr5:177539698-177539748	HCPEpiC	choroid plexus:	n/a
39	chr5:177539998-177540048	HUVEC	blood vessel:	n/a
40	chr5:177539698-177539748	HRE	kidney:	n/a
41	chr5:177542603-177542653	HCM	heart:	n/a
42	chr5:177540239-177540289	ovcar-3	ovarian:	n/a
43	chr5:177548913-177548963	HRCEpiC	kidney:	n/a
44	chr5:177539937-177539987	HNPCEpiC	eye:	n/a
45	chr5:177548615-177548665	LNCaP	prostate:	n/a
46	chr5:177540738-177540788	HCM	heart:	n/a
47	chr5:177539998-177540048	NHBE	bronchial:	n/a
48	chr5:177548913-177548963	HCF	heart:	n/a
49	chr5:177548398-177548448	NHDF-neo	bronchial:	n/a
50	chr5:177541754-177541804	SKMC	muscle:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:99062354..99064819-chr5:177533143..177535952,2	MCF-7	breast:
2	chr5:177551974..177555394-chr5:177629147..177631755,4	K562	blood:
3	chr5:177507498..177508038-chr5:177543332..177543988,2	MCF-7	breast:
4	chr5:177543096..177543972-chr5:177550978..177551700,2	MCF-7	breast:
5	chr12:17641986..17642986-chr5:177543012..177543918,2	MCF-7	breast:
6	chr5:177543150..177544003-chr5:177676886..177677587,2	MCF-7	breast:
7	chr5:177546904..177549875-chr5:177630412..177633087,2	MCF-7	breast:
8	chr5:177551220..177552161-chr5:177572718..177573791,3	MCF-7	breast:
9	chr5:177502948..177503452-chr5:177547888..177548428,2	MCF-7	breast:
10	chr5:177508355..177509265-chr5:177543128..177544079,3	MCF-7	breast:
11	chr5:177547624..177549561-chr5:177564717..177566861,2	K562	blood:
12	chr5:177545145..177547766-chr5:177633548..177635586,2	K562	blood:
13	chr5:177539043..177545979-chr5:177577141..177584026,12	K562	blood:
14	chr5:177504960..177505907-chr5:177550881..177551952,4	MCF-7	breast:
15	chr5:177508834..177509399-chr5:177540733..177541622,2	MCF-7	breast:
16	chr5:177541179..177543567-chr5:177562431..177564513,2	K562	blood:
17	chr17:57920673..57923074-chr5:177550900..177553018,2	MCF-7	breast:
18	chr5:177507320..177507847-chr5:177540649..177541511,2	MCF-7	breast:
19	chr5:177551780..177554441-chr5:177630455..177633730,4	MCF-7	breast:
20	chr5:177517569..177518151-chr5:177543241..177543954,2	MCF-7	breast:
21	chr5:177502804..177503762-chr5:177548006..177548509,2	K562	blood:
22	chr5:177502572..177503748-chr5:177547578..177548501,4	MCF-7	breast:
23	chr5:177502561..177503526-chr5:177548549..177549317,2	MCF-7	breast:
24	chr5:177544302..177547027-chr5:177629506..177633017,3	K562	blood:
25	chr17:58153519..58156304-chr5:177540532..177542693,2	MCF-7	breast:
26	chr17:57921588..57924164-chr5:177545029..177548240,3	MCF-7	breast:
27	chr5:177543208..177543993-chr5:180022726..180023297,2	MCF-7	breast:
28	chr5:177540540..177542207-chr5:177659467..177661313,2	K562	blood:
29	chr5:177502921..177503789-chr5:177551262..177552086,2	MCF-7	breast:
30	chr17:57182979..57185311-chr5:177542879..177544763,2	MCF-7	breast:
31	chr5:177389362..177391423-chr5:177551819..177554278,2	MCF-7	breast:
32	chr5:177547450..177548550-chr5:177572692..177573728,4	MCF-7	breast:
33	chr5:177504894..177505463-chr5:177547963..177548508,2	MCF-7	breast:
34	chr5:177507498..177508323-chr5:177543092..177543988,3	MCF-7	breast:
35	chr5:177508700..177509231-chr5:177541426..177542142,2	MCF-7	breast:
36	chr11:62607697..62609963-chr5:177539195..177541814,2	MCF-7	breast:
37	chr5:177547641..177548167-chr5:177557851..177558419,2	MCF-7	breast:
38	chr5:177018435..177020960-chr5:177539226..177540753,2	MCF-7	breast:
39	chr5:177539791..177542194-chr5:177578689..177582162,4	K562	blood:
40	chr5:177508355..177509065-chr5:177543131..177544079,2	MCF-7	breast:
41	chr5:177526479..177529448-chr5:177545070..177546800,2	K562	blood:
42	chr5:177548762..177553216-chr5:177630602..177633012,4	MCF-7	breast:
43	chr5:177547044..177549748-chr5:177575234..177578369,3	K562	blood:
44	chr5:177543096..177543972-chr5:177550978..177551700,2	MCF-7	breast:
45	chr5:177025398..177027289-chr5:177540105..177542434,2	MCF-7	breast:
46	chr5:177541621..177546270-chr5:177630811..177632975,5	MCF-7	breast:
47	chr5:177539929..177541051-chr5:177551226..177551840,3	MCF-7	breast:
48	chr5:177547618..177548373-chr5:177572622..177573656,7	MCF-7	breast:
49	chr5:177532919..177536961-chr5:177537813..177541921,4	K562	blood:
50	chr5:177504647..177505631-chr5:177540688..177541193,2	MCF-7	breast:

No data

Variant related genes	Relation type
N4BP3	TF binding region
N4BP3	CpG island
ENSG00000145916	chromatin interactions
ENSG00000068097	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000108395	chromatin interactions
ENSG00000224738	chromatin interactions
ENSG00000145911	chromatin interactions
ENSG00000163116	chromatin interactions
ENSG00000145912	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000175309	chromatin interactions
ENSG00000184840	chromatin interactions
ENSG00000013563	chromatin interactions
ENSG00000027847	chromatin interactions

Extended variants
information (count: 728 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:728 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6601211	chr5:177535370-177535371	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375352437	chr5:177535398-177535399	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552684142	chr5:177535415-177535416	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs577747588	chr5:177535440-177535441	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs145433879	chr5:177535443-177535444	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs557314343	chr5:177535526-177535527	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs556856841	chr5:177535578-177535579	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs542464107	chr5:177535605-177535606	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs562163764	chr5:177535610-177535611	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs529363325	chr5:177535621-177535622	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs541557513	chr5:177535622-177535623	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs559307874	chr5:177535685-177535686	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs36113696	chr5:177535747-177535748	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs576713008	chr5:177535766-177535767	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs35707199	chr5:177535792-177535793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs149189389	chr5:177535796-177535797	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs551633056	chr5:177535876-177535877	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs536102841	chr5:177535877-177535878	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs146846798	chr5:177535878-177535879	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs553254175	chr5:177535942-177535943	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs549316585	chr5:177535962-177535963	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs190643357	chr5:177536027-177536028	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs555985935	chr5:177536041-177536042	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574508227	chr5:177536067-177536068	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs573157926	chr5:177536111-177536112	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs566796713	chr5:177536216-177536217	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs7380422	chr5:177536243-177536244	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs538651273	chr5:177536272-177536273	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs180939018	chr5:177536286-177536287	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs371586770	chr5:177536295-177536296	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs560112345	chr5:177536299-177536300	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs186991826	chr5:177536379-177536380	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs137992896	chr5:177536388-177536389	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs554459734	chr5:177536410-177536411	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs78530281	chr5:177536446-177536447	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs576726829	chr5:177536447-177536448	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs142038052	chr5:177536491-177536492	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs541148203	chr5:177536521-177536522	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs79293227	chr5:177536534-177536535	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs559445306	chr5:177536550-177536551	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs145890811	chr5:177536565-177536566	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs545697107	chr5:177536577-177536578	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs112483461	chr5:177536578-177536579	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs191073863	chr5:177536617-177536618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182858435	chr5:177536670-177536671	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs116536918	chr5:177536672-177536673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187490042	chr5:177536681-177536682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs190026390	chr5:177536687-177536688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs182866484	chr5:177536719-177536720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs148180569	chr5:177536743-177536744	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1110 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177531600-177535600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:177532000-177539800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:177532400-177535400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:177532400-177535400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:177532400-177535600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:177532400-177535800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:177532400-177539800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr5:177532400-177539800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr5:177532400-177539800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:177532800-177536600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:177533000-177535400	Enhancers	Esophagus	oesophagus
12	chr5:177533000-177536800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:177533200-177536600	Enhancers	Placenta	Placenta
14	chr5:177533400-177536600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:177533600-177536400	Enhancers	NHEK	skin
16	chr5:177533800-177536400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:177533800-177536600	Enhancers	HMEC	breast
18	chr5:177533800-177537400	Enhancers	Fetal Muscle Leg	muscle
19	chr5:177534000-177535400	Weak transcription	Spleen	Spleen
20	chr5:177534000-177536000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:177534000-177536600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr5:177534200-177535400	Weak transcription	Lung	lung
23	chr5:177534200-177535800	Weak transcription	Gastric	stomach
24	chr5:177534200-177536400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:177534400-177535400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr5:177534400-177539600	Weak transcription	GM12878-XiMat	blood
27	chr5:177534800-177535400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:177534800-177535400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:177534800-177535600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:177534800-177535600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:177534800-177535600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:177534800-177535600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr5:177534800-177535800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:177534800-177535800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:177534800-177536000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:177534800-177536000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:177534800-177536200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:177534800-177536400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:177535000-177535600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:177535000-177535600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr5:177535000-177535600	Weak transcription	Right Ventricle	heart
42	chr5:177535000-177536000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:177535000-177536000	Enhancers	Colonic Mucosa	Colon
44	chr5:177535000-177536600	Enhancers	Fetal Heart	heart
45	chr5:177535000-177536800	Enhancers	Primary B cells from cord blood	blood
46	chr5:177535200-177535800	Enhancers	Hela-S3	cervix
47	chr5:177535200-177536600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:177535200-177536600	Enhancers	Stomach Mucosa	stomach
49	chr5:177535400-177535800	Flanking Active TSS	Esophagus	oesophagus
50	chr5:177535400-177535800	Enhancers	Spleen	Spleen

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