Variant report

Variant	nsv1016744
Chromosome Location	chr6:13622143-13664028
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:13661929-13662252	K562	blood:	n/a	n/a
2	ARID3A	chr6:13663839-13664278	K562	blood:	n/a	n/a
3	ARID3A	chr6:13625131-13625430	HepG2	liver:	n/a	n/a
4	CBX3	chr6:13633578-13633942	K562	blood:	n/a	n/a
5	CBX3	chr6:13661827-13662388	K562	blood:	n/a	n/a
6	CCNT2	chr6:13651152-13651187	K562	blood:	n/a	n/a
7	CEBPB	chr6:13643417-13643729	K562	blood:	n/a	chr6:13643560-13643571
8	CEBPB	chr6:13636561-13636831	HepG2	liver:	n/a	n/a
9	CEBPB	chr6:13661965-13662349	K562	blood:	n/a	n/a
10	CEBPB	chr6:13641678-13641853	HepG2	liver:	n/a	chr6:13641794-13641807 chr6:13641794-13641807 chr6:13641795-13641806
11	CEBPB	chr6:13641618-13641954	K562	blood:	n/a	chr6:13641794-13641807 chr6:13641794-13641807 chr6:13641795-13641806
12	CEBPB	chr6:13641586-13641954	IMR90	lung:	n/a	chr6:13641794-13641807 chr6:13641794-13641807 chr6:13641795-13641806
13	CEBPB	chr6:13640951-13641139	K562	blood:	n/a	n/a
14	CEBPB	chr6:13643435-13643708	HepG2	liver:	n/a	chr6:13643560-13643571
15	CEBPB	chr6:13641685-13641889	A549	lung:	n/a	chr6:13641794-13641807 chr6:13641794-13641807 chr6:13641795-13641806
16	CEBPB	chr6:13643410-13643671	IMR90	lung:	n/a	chr6:13643560-13643571
17	CEBPB	chr6:13640904-13641190	IMR90	lung:	n/a	n/a
18	CEBPB	chr6:13636542-13636856	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr6:13622258-13622294	K562	blood:	n/a	n/a
20	CTCF	chr6:13624989-13625510	MCF-7	breast:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
21	CTCF	chr6:13625051-13625464	GM12878	blood:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
22	CTCF	chr6:13625180-13625351	LNCaP	prostate:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
23	CTCF	chr6:13625160-13625310	GM12869	blood:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
24	CTCF	chr6:13625071-13625447	H1-hESC	embryonic stem cell:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
25	CTCF	chr6:13625140-13625290	HRE	kidney:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
26	CTCF	chr6:13625094-13625424	Gliobla	brain:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
27	CTCF	chr6:13625063-13625341	GM10248	blood:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
28	CTCF	chr6:13625180-13625330	RPTEC	kidney:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
29	CTCF	chr6:13625500-13625650	WI-38	lung:	n/a	n/a
30	CTCF	chr6:13625220-13625370	AG09319	gingival:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
31	CTCF	chr6:13625115-13625334	GM19239	blood:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
32	CTCF	chr6:13625118-13625354	ProgFib	skin:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
33	CTCF	chr6:13625080-13625230	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr6:13625200-13625350	GM12864	blood:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
35	CTCF	chr6:13625180-13625330	AG10803	skin:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
36	CTCF	chr6:13624940-13625090	K562	blood:	n/a	n/a
37	CTCF	chr6:13625144-13625354	HepG2	liver:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
38	CTCF	chr6:13625057-13625392	K562	blood:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
39	CTCF	chr6:13625200-13625350	HPAF	blood vessel:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
40	CTCF	chr6:13625140-13625290	HRPEpiC	eye:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
41	CTCF	chr6:13625160-13625310	WI-38	lung:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
42	CTCF	chr6:13625200-13625350	GM12869	blood:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
43	CTCF	chr6:13625180-13625330	HBMEC	blood vessel:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
44	CTCF	chr6:13625200-13625350	AG10803	skin:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
45	CTCF	chr6:13625200-13625350	SK-N-SH_RA	brain:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
46	CTCF	chr6:13625180-13625330	GM12870	blood:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
47	CTCF	chr6:13625160-13625310	HCFaa	heart:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
48	CTCF	chr6:13625220-13625370	NHDF-neo	bronchial:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
49	CTCF	chr6:13625072-13625352	A549	lung:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275
50	CTCF	chr6:13625180-13625330	HVMF	connective:	n/a	chr6:13625261-13625274 chr6:13625259-13625277 chr6:13625254-13625275

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:13639938-13639988	LNCaP	prostate:	n/a
2	chr6:13639938-13639988	BE2_C	brain:	n/a
3	chr6:13639938-13639988	SK-N-SH_RA	brain:	n/a
4	chr6:13639938-13639988	HRPEpiC	eye:	n/a
5	chr6:13639938-13639988	HAEpiC	amniotic membrane:	n/a
6	chr6:13639938-13639988	HRCEpiC	kidney:	n/a
7	chr6:13639938-13639988	GM06990	blood:	n/a
8	chr6:13639938-13639988	PANC-1	pancreas:	n/a
9	chr6:13639938-13639988	CMK	blood:	n/a
10	chr6:13639938-13639988	AoSMC	blood vessel:	n/a
11	chr6:13639938-13639988	PrEC	prostate:	n/a
12	chr6:13639938-13639988	T-47D	breast:	n/a
13	chr6:13639938-13639988	MCF10A-Er-Src	breast:	n/a
14	chr6:13639938-13639988	MCF-7	breast:	n/a
15	chr6:13639938-13639988	HL-60	blood:	n/a
16	chr6:13639938-13639988	NH-A	brain:	n/a
17	chr6:13639938-13639988	ProgFib	skin:	n/a
18	chr6:13639938-13639988	Hepatocyte	liver:	n/a
19	chr6:13639938-13639988	HRE	kidney:	n/a
20	chr6:13639938-13639988	A549	lung:	n/a
21	chr6:13639938-13639988	SKMC	muscle:	n/a
22	chr6:13639938-13639988	NB4	blood:	n/a
23	chr6:13639938-13639988	NHBE	bronchial:	n/a
24	chr6:13639938-13639988	AG10803	skin:	n/a
25	chr6:13639938-13639988	IMR90	lung:	fetal
26	chr6:13639938-13639988	SK-N-MC	brain:	n/a
27	chr6:13639938-13639988	U87	brain:	n/a
28	chr6:13639938-13639988	SAEC	small airway:	n/a
29	chr6:13639938-13639988	SK-N-SH	brain:	n/a
30	chr6:13639938-13639988	HPAEpiC	pulmonary alveolar:	n/a
31	chr6:13639938-13639988	PFSK-1	brain:	n/a
32	chr6:13639938-13639988	H1-hESC	embryonic stem cell:	embryo
33	chr6:13639938-13639988	Caco-2	colon:	n/a
34	chr6:13639938-13639988	HUVEC	blood vessel:	n/a
35	chr6:13639938-13639988	BJ	skin:	n/a
36	chr6:13639938-13639988	Hela-S3	cervix:	n/a
37	chr6:13639938-13639988	GM19239	blood:	n/a
38	chr6:13639938-13639988	GM12892	blood:	n/a
39	chr6:13639938-13639988	NHDF-neo	bronchial:	n/a
40	chr6:13639938-13639988	NT2-D1	testis:	n/a
41	chr6:13639938-13639988	HEEpiC	esophagus:	n/a
42	chr6:13639938-13639988	GM12891	blood:	n/a
43	chr6:13639938-13639988	ovcar-3	ovarian:	n/a
44	chr6:13639938-13639988	AG09309	skin:	n/a
45	chr6:13639938-13639988	HepG2	liver:	n/a
46	chr6:13639938-13639988	AG04450	lung:	fetal
47	chr6:13639938-13639988	HCM	heart:	n/a
48	chr6:13639938-13639988	ECC-1	luminal epithelium:	n/a
49	chr6:13639938-13639988	K562	blood:	n/a
50	chr6:13639938-13639988	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:13654390..13656114-chr6:13661892..13663591,2	MCF-7	breast:
2	chr6:13654696..13656531-chr6:13723124..13724832,2	K562	blood:
3	chr6:13619203..13621025-chr6:13638291..13640853,2	K562	blood:
4	chr6:13649508..13651998-chr6:13682343..13685063,2	K562	blood:
5	chr6:13614016..13617291-chr6:13638337..13642167,4	K562	blood:
6	chr6:13624060..13626610-chr6:13660365..13663120,2	MCF-7	breast:
7	chr6:13624828..13628073-chr6:13628586..13632112,4	K562	blood:
8	chr6:13624828..13628073-chr6:13628586..13632112,4	K562	blood:
9	chr6:13573533..13576105-chr6:13657516..13659803,2	K562	blood:
10	chr6:13621845..13624012-chr6:13637610..13640298,2	MCF-7	breast:
11	chr6:13644681..13646353-chr6:13651574..13653545,2	K562	blood:
12	chr6:13573127..13576343-chr6:13624827..13627639,3	MCF-7	breast:
13	chr6:13634147..13636935-chr6:13665092..13667757,2	K562	blood:
14	chr6:13649255..13650817-chr6:13651728..13653387,2	K562	blood:
15	chr6:13651312..13653506-chr6:13655143..13656683,2	K562	blood:
16	chr6:13614062..13615646-chr6:13642570..13644514,2	K562	blood:
17	chr6:13624060..13626610-chr6:13660365..13663120,2	MCF-7	breast:
18	chr6:13635435..13638835-chr6:13664717..13667757,3	K562	blood:
19	chr6:13659347..13661218-chr6:13813529..13815165,2	K562	blood:
20	chr6:13573704..13575686-chr6:13623480..13626663,3	K562	blood:
21	chr6:13644681..13646353-chr6:13651574..13653545,2	K562	blood:
22	chr6:13622436..13626191-chr6:13709343..13710896,3	MCF-7	breast:
23	chr6:13633178..13635073-chr6:13648017..13650938,2	MCF-7	breast:
24	chr6:13643256..13646012-chr6:13673649..13676067,2	K562	blood:
25	chr6:13628211..13630270-chr6:13695494..13698366,2	K562	blood:
26	chr6:13622285..13628716-chr6:13632838..13638490,8	K562	blood:
27	chr6:13623729..13626567-chr6:13710463..13713385,3	MCF-7	breast:
28	chr6:13614145..13615918-chr6:13648363..13650300,2	K562	blood:
29	chr6:13622245..13624613-chr6:13641011..13644598,3	K562	blood:
30	chr6:13641812..13646740-chr6:13710495..13713683,5	K562	blood:
31	chr6:13651237..13655729-chr6:13659115..13661394,7	K562	blood:
32	chr6:13651312..13653506-chr6:13655143..13656683,2	K562	blood:
33	chr6:13644070..13647377-chr6:13677584..13680822,4	K562	blood:
34	chr6:13572897..13576165-chr6:13620913..13622919,3	K562	blood:
35	chr6:13615075..13617123-chr6:13630097..13632332,2	K562	blood:
36	chr6:13641445..13646183-chr6:13647166..13651436,6	K562	blood:
37	chr6:13653800..13655519-chr6:13709705..13714019,3	K562	blood:
38	chr6:13623977..13626863-chr6:13635237..13638133,2	K562	blood:
39	chr6:13639950..13644495-chr6:13710615..13714647,5	MCF-7	breast:
40	chr6:13626339..13628335-chr6:13647622..13649299,2	K562	blood:
41	chr6:13615829..13619201-chr6:13633909..13638104,5	K562	blood:
42	chr6:13615461..13617321-chr6:13644402..13646054,2	MCF-7	breast:
43	chr6:13657137..13658911-chr6:13667084..13669198,2	MCF-7	breast:
44	chr6:13647295..13649197-chr6:13661190..13662891,2	K562	blood:
45	chr6:13621813..13624606-chr6:13711538..13713160,2	MCF-7	breast:
46	chr6:13623977..13626863-chr6:13635237..13638133,2	K562	blood:
47	chr6:13633895..13638597-chr6:13710171..13713051,5	MCF-7	breast:
48	chr6:13658437..13687167-chr6:13707669..13717356,51	K562	blood:
49	chr6:13644488..13646083-chr6:13662452..13664721,2	K562	blood:
50	chr6:13638375..13640882-chr6:13640960..13643091,4	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RANBP9	hsa-miR-196a-5p	chr6:13622311-13622332

Variant related genes	Relation type
RANBP9	TF binding region
ENSG00000268059	TF binding region
RANBP9	CpG island
ENSG00000268059	CpG island
ENSG00000225921	chromatin interactions
ENSG00000252966	chromatin interactions
ENSG00000145990	chromatin interactions
ENSG00000237786	chromatin interactions
ENSG00000261071	chromatin interactions
ENSG00000010017	chromatin interactions
ENSG00000050393	chromatin interactions
ENSG00000187461	chromatin interactions
ENSG00000124523	chromatin interactions
ENSG00000268059	chromatin interactions

Extended variants
information (count: 1629 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1629 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556172955	chr6:13622175-13622176	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs569705557	chr6:13622192-13622193	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs556531957	chr6:13622283-13622284	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs538793199	chr6:13622370-13622371	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs559020705	chr6:13622418-13622419	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs61474580	chr6:13622431-13622432	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs35154980	chr6:13622438-13622439	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs572415603	chr6:13622464-13622465	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs192334218	chr6:13622553-13622554	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs115719968	chr6:13622567-13622568	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs201118974	chr6:13622591-13622592	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs184285677	chr6:13622613-13622614	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs375504162	chr6:13622627-13622628	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs562517476	chr6:13622646-13622647	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs200540747	chr6:13622667-13622668	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs544635680	chr6:13622715-13622716	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs112516735	chr6:13622721-13622722	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs369791365	chr6:13622727-13622728	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs199638648	chr6:13622741-13622742	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs367639789	chr6:13622785-13622786	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs547994951	chr6:13622789-13622790	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs567504334	chr6:13622818-13622819	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs79892677	chr6:13622863-13622864	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs111493376	chr6:13622878-13622879	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs187569492	chr6:13622879-13622880	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs569966961	chr6:13622915-13622916	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs142781534	chr6:13622918-13622919	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs564886925	chr6:13622936-13622937	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs534886382	chr6:13622942-13622943	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs78308742	chr6:13622969-13622970	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs566193078	chr6:13623021-13623022	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs193007970	chr6:13623062-13623063	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs184076689	chr6:13623083-13623084	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs558286184	chr6:13623091-13623092	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs56163379	chr6:13623097-13623098	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs146051705	chr6:13623133-13623134	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs556508216	chr6:13623149-13623150	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs3842123	chr6:13623152-13623153	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs138890676	chr6:13623207-13623208	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs545009836	chr6:13623237-13623238	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs552330875	chr6:13623244-13623245	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs564701889	chr6:13623251-13623252	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs541217723	chr6:13623266-13623267	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs12209803	chr6:13623324-13623325	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs373344420	chr6:13623333-13623334	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs375631826	chr6:13623348-13623349	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs189202182	chr6:13623354-13623355	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs530233507	chr6:13623362-13623363	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs79535130	chr6:13623372-13623373	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs565961938	chr6:13623393-13623394	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1263 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13616600-13624200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:13616600-13637400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:13617000-13622800	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr6:13617000-13628200	Strong transcription	Fetal Muscle Leg	muscle
5	chr6:13617000-13633000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr6:13617200-13622800	Strong transcription	Fetal Kidney	kidney
7	chr6:13617200-13623400	Strong transcription	Fetal Stomach	stomach
8	chr6:13617200-13623600	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr6:13617200-13623800	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr6:13617200-13624000	Strong transcription	Brain Anterior Caudate	brain
11	chr6:13617200-13624600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:13617200-13625000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:13617200-13626000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:13617200-13627200	Strong transcription	NH-A	brain
15	chr6:13617200-13627600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:13617200-13632800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr6:13617200-13632800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr6:13617200-13633800	Weak transcription	Stomach Mucosa	stomach
19	chr6:13617200-13634600	Strong transcription	Placenta	Placenta
20	chr6:13617200-13634800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:13617200-13634800	Strong transcription	Fetal Intestine Large	intestine
22	chr6:13617200-13638800	Weak transcription	Aorta	Aorta
23	chr6:13617400-13622200	Strong transcription	Right Ventricle	heart
24	chr6:13617400-13622800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:13617400-13622800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:13617400-13625400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:13617400-13625400	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:13617400-13625600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:13617400-13627600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr6:13617400-13627600	Strong transcription	HSMMtube	muscle
31	chr6:13617400-13630400	Strong transcription	Primary B cells from cord blood	blood
32	chr6:13617400-13636400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr6:13617600-13623000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:13617600-13624000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:13617600-13626000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:13617600-13626000	Strong transcription	NHEK	skin
37	chr6:13617600-13627000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:13617600-13627400	Strong transcription	Left Ventricle	heart
39	chr6:13617600-13627600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:13617600-13627800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:13617600-13632000	Strong transcription	Adipose Nuclei	Adipose
42	chr6:13617600-13632800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr6:13617600-13633000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:13617600-13634600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:13617600-13634800	Strong transcription	Primary T cells from cord blood	blood
46	chr6:13617600-13635400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr6:13617600-13642200	Strong transcription	Fetal Thymus	thymus
48	chr6:13617600-13642200	Strong transcription	HSMM	muscle
49	chr6:13617600-13642400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:13617800-13623400	Strong transcription	Ovary	ovary

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