Variant report

Variant	nsv572946
Chromosome Location	chr16:70694000-70740707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1897)
CpG islands
(count:2382)
Chromatin interactive
region (count:97)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:1897 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:70723501-70723726	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:70729555-70729873	K562	blood:	n/a	n/a
3	ATF2	chr16:70727915-70728403	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr16:70719875-70720111	HepG2	liver:	n/a	chr16:70720000-70720009 chr16:70719988-70720008
5	ATF3	chr16:70719798-70720136	K562	blood:	n/a	chr16:70720000-70720009 chr16:70719988-70720008
6	BACH1	chr16:70729711-70729940	K562	blood:	n/a	n/a
7	BACH1	chr16:70713819-70714151	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr16:70696002-70696021	K562	blood:	n/a	n/a
9	BACH1	chr16:70719910-70720474	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr16:70719312-70719513	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr16:70710538-70710648	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr16:70728018-70728457	H1-hESC	embryonic stem cell:	n/a	chr16:70728171-70728185
13	BCL3	chr16:70696017-70696559	K562	blood:	n/a	n/a
14	BCL3	chr16:70719867-70720618	A549	lung:	n/a	chr16:70720296-70720305 chr16:70720004-70720013 chr16:70720001-70720010 chr16:70720041-70720054
15	BCL3	chr16:70695304-70695694	A549	lung:	n/a	n/a
16	BCL3	chr16:70719910-70720275	GM12878	blood:	n/a	chr16:70720004-70720013 chr16:70720001-70720010 chr16:70720041-70720054
17	BCL3	chr16:70727687-70728702	A549	lung:	n/a	n/a
18	BHLHE40	chr16:70719828-70721453	HepG2	liver:	n/a	n/a
19	BHLHE40	chr16:70719789-70720182	K562	blood:	n/a	n/a
20	BHLHE40	chr16:70729308-70729987	K562	blood:	n/a	n/a
21	BHLHE40	chr16:70723501-70723740	HepG2	liver:	n/a	n/a
22	BHLHE40	chr16:70720928-70721497	K562	blood:	n/a	n/a
23	BRCA1	chr16:70723666-70723763	HepG2	liver:	n/a	n/a
24	BRCA1	chr16:70715668-70716034	HepG2	liver:	n/a	n/a
25	BRCA1	chr16:70716261-70716421	HepG2	liver:	n/a	n/a
26	BRCA1	chr16:70717199-70717278	HepG2	liver:	n/a	n/a
27	BRCA1	chr16:70719326-70719329	HepG2	liver:	n/a	n/a
28	BRCA1	chr16:70716747-70716841	HepG2	liver:	n/a	n/a
29	CBX3	chr16:70719896-70720161	K562	blood:	n/a	n/a
30	CBX3	chr16:70729269-70730023	K562	blood:	n/a	n/a
31	CBX3	chr16:70702761-70703016	K562	blood:	n/a	n/a
32	CCNT2	chr16:70719419-70720258	K562	blood:	n/a	n/a
33	CCNT2	chr16:70713996-70714229	K562	blood:	n/a	n/a
34	CCNT2	chr16:70729500-70730051	K562	blood:	n/a	chr16:70729780-70729800
35	CEBPB	chr16:70718830-70719030	K562	blood:	n/a	n/a
36	CEBPB	chr16:70725829-70726025	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr16:70722526-70722755	IMR90	lung:	n/a	chr16:70722661-70722672
38	CEBPB	chr16:70729629-70729968	K562	blood:	n/a	n/a
39	CEBPB	chr16:70702086-70702328	HepG2	liver:	n/a	n/a
40	CEBPB	chr16:70725709-70726188	IMR90	lung:	n/a	chr16:70726014-70726026
41	CEBPB	chr16:70710563-70710716	A549	lung:	n/a	chr16:70710700-70710713
42	CEBPB	chr16:70736952-70737572	IMR90	lung:	n/a	n/a
43	CEBPB	chr16:70715823-70716360	HepG2	liver:	n/a	chr16:70716103-70716115
44	CEBPB	chr16:70717157-70717360	HepG2	liver:	n/a	n/a
45	CEBPB	chr16:70715406-70716322	HepG2	liver:	n/a	chr16:70716103-70716115
46	CEBPB	chr16:70718756-70719015	IMR90	lung:	n/a	n/a
47	CEBPB	chr16:70723693-70723780	HepG2	liver:	n/a	n/a
48	CEBPB	chr16:70730765-70731305	MCF-7	breast:	n/a	n/a
49	CEBPB	chr16:70725922-70725973	HepG2	liver:	n/a	n/a
50	CEBPB	chr16:70729665-70729925	K562	blood:	n/a	n/a

(count:2382 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:70720149-70720199	T-47D	breast:	n/a
2	chr16:70720083-70720133	BJ	skin:	n/a
3	chr16:70694508-70694558	GM12892	blood:	n/a
4	chr16:70720149-70720199	T-47D	breast:	n/a
5	chr16:70720083-70720133	BJ	skin:	n/a
6	chr16:70694508-70694558	GM12892	blood:	n/a
7	chr16:70722454-70722504	SKMC	muscle:	n/a
8	chr16:70736032-70736082	MCF10A-Er-Src	breast:	n/a
9	chr16:70720149-70720199	SKMC	muscle:	n/a
10	chr16:70714606-70714656	CMK	blood:	n/a
11	chr16:70728001-70728051	PFSK-1	brain:	n/a
12	chr16:70720440-70720490	A549	lung:	n/a
13	chr16:70720083-70720133	Hela-S3	cervix:	n/a
14	chr16:70722454-70722504	GM06990	blood:	n/a
15	chr16:70698053-70698103	HMEC	breast:	n/a
16	chr16:70697712-70697762	LNCaP	prostate:	n/a
17	chr16:70709930-70709980	PANC-1	pancreas:	n/a
18	chr16:70733437-70733487	SK-N-MC	brain:	n/a
19	chr16:70720079-70720129	HCF	heart:	n/a
20	chr16:70698053-70698103	BE2_C	brain:	n/a
21	chr16:70694508-70694558	HEEpiC	esophagus:	n/a
22	chr16:70719115-70719165	A549	lung:	n/a
23	chr16:70698146-70698196	BJ	skin:	n/a
24	chr16:70720133-70720183	HEK293	kidney:	embryo
25	chr16:70720817-70720867	LNCaP	prostate:	n/a
26	chr16:70713203-70713253	NT2-D1	testis:	n/a
27	chr16:70733437-70733487	HRPEpiC	eye:	n/a
28	chr16:70713203-70713253	A549	lung:	n/a
29	chr16:70719667-70719717	BJ	skin:	n/a
30	chr16:70697933-70697983	Jurkat	blood:	n/a
31	chr16:70720133-70720183	ovcar-3	ovarian:	n/a
32	chr16:70697933-70697983	AG04450	lung:	fetal
33	chr16:70697712-70697762	GM12878	blood:	n/a
34	chr16:70721696-70721746	HAEpiC	amniotic membrane:	n/a
35	chr16:70713203-70713253	Hela-S3	cervix:	n/a
36	chr16:70720817-70720867	SK-N-MC	brain:	n/a
37	chr16:70720133-70720183	Hela-S3	cervix:	n/a
38	chr16:70719667-70719717	AG10803	skin:	n/a
39	chr16:70720083-70720133	HCT-116	colon:	n/a
40	chr16:70714378-70714428	AG04450	lung:	fetal
41	chr16:70733437-70733487	LNCaP	prostate:	n/a
42	chr16:70728001-70728051	NH-A	brain:	n/a
43	chr16:70736032-70736082	HRCEpiC	kidney:	n/a
44	chr16:70720083-70720133	T-47D	breast:	n/a
45	chr16:70696450-70696500	Hepatocyte	liver:	n/a
46	chr16:70700420-70700470	BJ	skin:	n/a
47	chr16:70713567-70713617	NH-A	brain:	n/a
48	chr16:70733832-70733882	HCF	heart:	n/a
49	chr16:70720314-70720364	Jurkat	blood:	n/a
50	chr16:70720314-70720364	HEK293	kidney:	embryo

(count:97 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:70739967..70742335-chr16:70770927..70772720,2	MCF-7	breast:
2	chr16:70709373..70712593-chr16:70717107..70721470,4	MCF-7	breast:
3	chr16:70695544..70698272-chr16:70698602..70701908,3	K562	blood:
4	chr16:70697692..70701444-chr16:70709589..70713231,3	MCF-7	breast:
5	chr16:70685129..70687949-chr16:70714245..70716905,2	K562	blood:
6	chr16:70696392..70700109-chr16:70707157..70709688,3	K562	blood:
7	chr16:70700082..70702033-chr16:70779098..70781687,2	MCF-7	breast:
8	chr16:70737871..70744107-chr16:70778676..70782524,8	MCF-7	breast:
9	chr16:70714005..70714508-chr16:70796535..70797094,2	K562	blood:
10	chr16:70700778..70704017-chr16:70704220..70706631,3	K562	blood:
11	chr16:70691222..70695511-chr16:70695866..70699459,4	MCF-7	breast:
12	chr16:70694540..70696978-chr16:70697055..70699897,3	K562	blood:
13	chr16:70412847..70415449-chr16:70713492..70715384,2	MCF-7	breast:
14	chr16:70739016..70741749-chr16:70743376..70745387,3	K562	blood:
15	chr16:70721359..70722001-chr16:70804625..70805130,2	NB4	blood:
16	chr16:70704267..70706050-chr16:70717985..70719949,2	MCF-7	breast:
17	chr16:70716977..70720923-chr16:70779925..70783515,4	K562	blood:
18	chr16:70728939..70732766-chr16:70778342..70782420,7	MCF-7	breast:
19	chr16:70557802..70559378-chr16:70727499..70729855,2	MCF-7	breast:
20	chr16:70720725..70722557-chr16:70763820..70766425,2	MCF-7	breast:
21	chr16:70716977..70719990-chr16:70779925..70783515,4	K562	blood:
22	chr16:70684913..70687861-chr16:70697213..70699784,2	MCF-7	breast:
23	chr16:70718149..70722046-chr16:70735012..70737866,4	K562	blood:
24	chr16:70696273..70698842-chr16:70700749..70702411,2	MCF-7	breast:
25	chr16:70717368..70719959-chr16:70834400..70837024,2	MCF-7	breast:
26	chr16:70735376..70737642-chr16:70737721..70740521,2	K562	blood:
27	chr16:70731211..70733556-chr16:70795711..70798621,2	MCF-7	breast:
28	chr16:70555634..70562342-chr16:70718026..70723686,6	MCF-7	breast:
29	chr16:70696392..70700109-chr16:70707157..70709688,3	K562	blood:
30	chr16:70414936..70416804-chr16:70716789..70719608,2	MCF-7	breast:
31	chr16:70557404..70559020-chr16:70695143..70697780,2	MCF-7	breast:
32	chr16:70737857..70741498-chr16:70742534..70745125,3	K562	blood:
33	chr16:70718434..70719938-chr16:70760026..70761921,2	K562	blood:
34	chr16:70704478..70706991-chr16:70709416..70711257,2	K562	blood:
35	chr16:70715424..70721545-chr16:70778213..70783786,16	MCF-7	breast:
36	chr16:70693638..70695882-chr16:70710184..70712237,2	K562	blood:
37	chr16:70709373..70712593-chr16:70717107..70721470,4	MCF-7	breast:
38	chr16:70704267..70706050-chr16:70717985..70719949,2	MCF-7	breast:
39	chr16:70706397..70707963-chr16:70716501..70718128,2	K562	blood:
40	chr16:70728125..70734937-chr16:70778355..70783574,11	MCF-7	breast:
41	chr16:69758592..69760994-chr16:70729394..70731021,2	K562	blood:
42	chr16:70710502..70716221-chr16:70726302..70731102,7	K562	blood:
43	chr16:70717596..70719954-chr16:70769240..70771432,3	K562	blood:
44	chr16:70730415..70732560-chr16:70741033..70742955,2	K562	blood:
45	chr16:70696392..70698736-chr16:70707157..70709688,2	K562	blood:
46	chr16:70708575..70710347-chr16:70756383..70757936,2	K562	blood:
47	chr16:70716559..70717332-chr16:70780665..70781229,2	MCF-7	breast:
48	chr16:70706397..70707963-chr16:70716501..70718128,2	K562	blood:
49	chr16:70695734..70697501-chr16:70719641..70721197,2	MCF-7	breast:
50	chr16:70739819..70742523-chr17:57918243..57919876,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTSS1L-1	chr16:70695093-70695583	NONHSAT143439

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	MTSS1L	hsa-miR-186-5p	chr16:70695404-70695428
2	MTSS1L	hsa-miR-93-5p	chr16:70697456-70697450
3	MTSS1L	hsa-miR-101-3p	chr16:70695120-70695113
4	MTSS1L	hsa-miR-186-5p	chr16:70695410-70695404
5	MTSS1L	hsa-miR-101-3p	chr16:70695114-70695139

Variant related genes	Relation type
MTSS1L	TF binding region
VAC14	TF binding region
ENSG00000268927	TF binding region
MTSS1L	CpG island
VAC14	CpG island
ENSG00000268927	CpG island
ENSG00000268927	chromatin interactions
ENSG00000260111	chromatin interactions
ENSG00000260156	chromatin interactions
ENSG00000262136	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000132613	chromatin interactions
ENSG00000262890	chromatin interactions
ENSG00000103051	chromatin interactions
ENSG00000181019	chromatin interactions
ENSG00000103043	chromatin interactions
ENSG00000189091	chromatin interactions
ENSG00000214353	chromatin interactions

Extended variants
information (count: 2275 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2275 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4985556	chr16:70694000-70694001	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs202122982	chr16:70694001-70694002	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs201784459	chr16:70694005-70694006	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs148286339	chr16:70694011-70694012	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200144613	chr16:70694012-70694013	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs532486484	chr16:70694020-70694021	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550608624	chr16:70694030-70694031	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs372998917	chr16:70694041-70694042	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs200444183	chr16:70694042-70694043	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs192356278	chr16:70694048-70694049	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs141513638	chr16:70694056-70694057	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs150579141	chr16:70694072-70694073	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112639369	chr16:70694073-70694074	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs144464320	chr16:70694076-70694077	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs551796755	chr16:70694086-70694087	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs570123541	chr16:70694087-70694088	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs370957526	chr16:70694097-70694098	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs375275661	chr16:70694119-70694120	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs537802994	chr16:70694135-70694136	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs530529839	chr16:70694201-70694202	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs575041676	chr16:70694218-70694219	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs374354537	chr16:70694278-70694279	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs7206831	chr16:70694294-70694295	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs146279999	chr16:70694323-70694324	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs554385220	chr16:70694325-70694326	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs572617602	chr16:70694327-70694328	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs113360715	chr16:70694351-70694352	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs376370922	chr16:70694365-70694366	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs564529049	chr16:70694371-70694372	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs576506594	chr16:70694372-70694373	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs543770227	chr16:70694403-70694404	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs2242125	chr16:70694444-70694445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs112379576	chr16:70694450-70694451	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs548134786	chr16:70694454-70694455	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs559908866	chr16:70694470-70694471	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs3179920	chr16:70694476-70694477	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs551859819	chr16:70694505-70694506	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs570185965	chr16:70694508-70694509	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs531224369	chr16:70694546-70694547	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs549734180	chr16:70694554-70694555	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs374629250	chr16:70694562-70694563	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs568688598	chr16:70694606-70694607	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs551726995	chr16:70694622-70694623	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs554444634	chr16:70694675-70694676	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs566283051	chr16:70694689-70694690	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs539991287	chr16:70694702-70694703	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs570226774	chr16:70694708-70694709	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs558303207	chr16:70694714-70694715	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs576468690	chr16:70694730-70694731	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs374846368	chr16:70694743-70694744	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD

Chromatin state (count:2491 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70683600-70697200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:70683600-70698600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:70684200-70697400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:70688200-70694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:70688200-70695000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:70688200-70695400	Weak transcription	Brain Germinal Matrix	brain
7	chr16:70688200-70695400	Weak transcription	Thymus	Thymus
8	chr16:70688200-70695600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:70688200-70695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:70688200-70696000	Strong transcription	Fetal Intestine Small	intestine
11	chr16:70688200-70696200	Weak transcription	Brain Hippocampus Middle	brain
12	chr16:70688200-70696400	Weak transcription	Brain Anterior Caudate	brain
13	chr16:70688200-70697200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr16:70688200-70698000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr16:70688200-70700400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr16:70688200-70701400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr16:70688200-70704800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr16:70688400-70695000	Weak transcription	Fetal Heart	heart
19	chr16:70688400-70695000	Weak transcription	Ovary	ovary
20	chr16:70688400-70695400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr16:70688400-70695400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr16:70688400-70695600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr16:70688400-70695600	Weak transcription	Placenta	Placenta
24	chr16:70688400-70695800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:70688400-70695800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr16:70688400-70696000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:70688400-70696000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr16:70688400-70696000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr16:70688400-70696000	Weak transcription	Osteobl	bone
30	chr16:70688400-70696200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr16:70688400-70696600	Weak transcription	Fetal Lung	lung
32	chr16:70688400-70697200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:70688400-70697200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:70688400-70697200	Weak transcription	Adipose Nuclei	Adipose
35	chr16:70688400-70697200	Weak transcription	Brain Substantia Nigra	brain
36	chr16:70688400-70697200	Weak transcription	Colonic Mucosa	Colon
37	chr16:70688400-70697200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr16:70688400-70697200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr16:70688400-70697400	Weak transcription	Dnd41	blood
40	chr16:70688400-70697800	Weak transcription	Brain Angular Gyrus	brain
41	chr16:70688400-70699000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr16:70688400-70700400	Weak transcription	HUVEC	blood vessel
43	chr16:70688400-70701800	Weak transcription	Right Atrium	heart
44	chr16:70688400-70702400	Weak transcription	Psoas Muscle	Psoas
45	chr16:70688400-70715000	Weak transcription	Stomach Mucosa	stomach
46	chr16:70688600-70694200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr16:70688600-70694400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr16:70688600-70695400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr16:70688600-70695400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:70688600-70695400	Weak transcription	Fetal Brain Female	brain

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