Variant report

Variant	nsv906889
Chromosome Location	chr16:70724001-70790831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2210)
CpG islands
(count:1221)
Chromatin interactive
region (count:166)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2210 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:70729555-70729873	K562	blood:	n/a	n/a
2	ARID3A	chr16:70780639-70781200	K562	blood:	n/a	n/a
3	ARID3A	chr16:70758177-70760063	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:70783430-70783434	HepG2	liver:	n/a	n/a
5	ARID3A	chr16:70779999-70781304	HepG2	liver:	n/a	n/a
6	ARID3A	chr16:70772338-70772610	HepG2	liver:	n/a	n/a
7	ATF1	chr16:70780603-70781205	K562	blood:	n/a	n/a
8	ATF2	chr16:70771333-70771911	GM12878	blood:	n/a	n/a
9	ATF2	chr16:70727915-70728403	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr16:70771328-70771985	GM12878	blood:	n/a	n/a
11	ATF3	chr16:70780385-70781032	A549	lung:	n/a	n/a
12	ATF3	chr16:70780446-70781042	A549	lung:	n/a	n/a
13	ATF3	chr16:70748940-70749471	A549	lung:	n/a	n/a
14	ATF3	chr16:70780538-70780970	K562	blood:	n/a	n/a
15	ATF3	chr16:70780580-70780931	HepG2	liver:	n/a	n/a
16	BACH1	chr16:70729711-70729940	K562	blood:	n/a	n/a
17	BACH1	chr16:70728018-70728457	H1-hESC	embryonic stem cell:	n/a	chr16:70728171-70728185
18	BACH1	chr16:70760373-70760459	K562	blood:	n/a	n/a
19	BATF	chr16:70771420-70771777	GM12878	blood:	n/a	n/a
20	BATF	chr16:70771501-70771754	GM12878	blood:	n/a	n/a
21	BCL11A	chr16:70771388-70771806	GM12878	blood:	n/a	chr16:70771552-70771565 chr16:70771479-70771488
22	BCL11A	chr16:70771343-70771810	GM12878	blood:	n/a	chr16:70771552-70771565 chr16:70771479-70771488
23	BCL3	chr16:70779717-70780260	A549	lung:	n/a	n/a
24	BCL3	chr16:70780065-70780317	GM12878	blood:	n/a	n/a
25	BCL3	chr16:70749067-70749450	GM12878	blood:	n/a	n/a
26	BCL3	chr16:70779908-70780451	A549	lung:	n/a	n/a
27	BCL3	chr16:70780437-70781102	A549	lung:	n/a	chr16:70780788-70780797 chr16:70780789-70780798
28	BCL3	chr16:70779960-70780438	GM12878	blood:	n/a	n/a
29	BCL3	chr16:70748867-70749435	A549	lung:	n/a	n/a
30	BCL3	chr16:70727687-70728702	A549	lung:	n/a	n/a
31	BHLHE40	chr16:70779958-70780994	K562	blood:	n/a	n/a
32	BHLHE40	chr16:70772413-70772528	K562	blood:	n/a	n/a
33	BHLHE40	chr16:70779907-70781278	HepG2	liver:	n/a	n/a
34	BHLHE40	chr16:70758173-70760016	HepG2	liver:	n/a	n/a
35	BHLHE40	chr16:70782202-70782206	K562	blood:	n/a	n/a
36	BHLHE40	chr16:70749012-70749400	A549	lung:	n/a	n/a
37	BHLHE40	chr16:70772347-70772605	HepG2	liver:	n/a	n/a
38	BHLHE40	chr16:70779996-70780319	A549	lung:	n/a	n/a
39	BHLHE40	chr16:70770952-70772027	GM12878	blood:	n/a	chr16:70771488-70771497 chr16:70771272-70771288
40	BHLHE40	chr16:70779983-70780216	HepG2	liver:	n/a	n/a
41	BHLHE40	chr16:70780559-70780876	HepG2	liver:	n/a	n/a
42	BHLHE40	chr16:70748994-70749336	K562	blood:	n/a	n/a
43	BHLHE40	chr16:70729308-70729987	K562	blood:	n/a	n/a
44	BRCA1	chr16:70740997-70741513	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr16:70758191-70759764	HepG2	liver:	n/a	n/a
46	BRCA1	chr16:70780022-70780866	HepG2	liver:	n/a	n/a
47	CBX3	chr16:70780080-70780511	K562	blood:	n/a	n/a
48	CBX3	chr16:70780513-70781040	K562	blood:	n/a	n/a
49	CBX3	chr16:70729269-70730023	K562	blood:	n/a	n/a
50	CCNT2	chr16:70729500-70730051	K562	blood:	n/a	chr16:70729780-70729800

(count:1221 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:70728001-70728051	NH-A	brain:	n/a
2	chr16:70728001-70728051	NH-A	brain:	n/a
3	chr16:70770604-70770654	HEK293	kidney:	embryo
4	chr16:70736032-70736082	HUVEC	blood vessel:	n/a
5	chr16:70728001-70728051	HL-60	blood:	n/a
6	chr16:70728001-70728051	NT2-D1	testis:	n/a
7	chr16:70749564-70749614	IMR90	lung:	fetal
8	chr16:70748321-70748371	SKMC	muscle:	n/a
9	chr16:70736032-70736082	GM12891	blood:	n/a
10	chr16:70733832-70733882	HMEC	breast:	n/a
11	chr16:70771142-70771192	AG09319	gingival:	n/a
12	chr16:70748321-70748371	SK-N-MC	brain:	n/a
13	chr16:70736032-70736082	H1-hESC	embryonic stem cell:	embryo
14	chr16:70748321-70748371	HepG2	liver:	n/a
15	chr16:70745992-70746042	GM06990	blood:	n/a
16	chr16:70737371-70737421	A549	lung:	n/a
17	chr16:70759994-70760044	Jurkat	blood:	n/a
18	chr16:70783744-70783794	HCF	heart:	n/a
19	chr16:70759914-70759964	MCF-7	breast:	n/a
20	chr16:70784519-70784569	Caco-2	colon:	n/a
21	chr16:70787597-70787647	AG10803	skin:	n/a
22	chr16:70760142-70760192	HAEpiC	amniotic membrane:	n/a
23	chr16:70783744-70783794	CMK	blood:	n/a
24	chr16:70733437-70733487	ProgFib	skin:	n/a
25	chr16:70728001-70728051	NB4	blood:	n/a
26	chr16:70745992-70746042	NHDF-neo	bronchial:	n/a
27	chr16:70733437-70733487	HEEpiC	esophagus:	n/a
28	chr16:70733832-70733882	HepG2	liver:	n/a
29	chr16:70770604-70770654	SK-N-MC	brain:	n/a
30	chr16:70759914-70759964	BE2_C	brain:	n/a
31	chr16:70733772-70733822	Caco-2	colon:	n/a
32	chr16:70733832-70733882	NH-A	brain:	n/a
33	chr16:70759095-70759145	SK-N-SH	brain:	n/a
34	chr16:70733234-70733284	HPAEpiC	pulmonary alveolar:	n/a
35	chr16:70787597-70787647	HNPCEpiC	eye:	n/a
36	chr16:70771142-70771192	ECC-1	luminal epithelium:	n/a
37	chr16:70728425-70728475	AG09309	skin:	n/a
38	chr16:70770604-70770654	BE2_C	brain:	n/a
39	chr16:70748321-70748371	PFSK-1	brain:	n/a
40	chr16:70787597-70787647	PFSK-1	brain:	n/a
41	chr16:70745992-70746042	HAEpiC	amniotic membrane:	n/a
42	chr16:70737371-70737421	BJ	skin:	n/a
43	chr16:70759914-70759964	Hela-S3	cervix:	n/a
44	chr16:70749564-70749614	HAEpiC	amniotic membrane:	n/a
45	chr16:70783744-70783794	HepG2	liver:	n/a
46	chr16:70733437-70733487	HCF	heart:	n/a
47	chr16:70733437-70733487	HCT-116	colon:	n/a
48	chr16:70770604-70770654	HCM	heart:	n/a
49	chr16:70771142-70771192	HCPEpiC	choroid plexus:	n/a
50	chr16:70745992-70746042	PANC-1	pancreas:	n/a

(count:166 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr16:70555851..70557474-chr16:70727939..70730719,2	MCF-7	breast:
2	chr16:70690657..70692376-chr16:70770726..70773209,2	MCF-7	breast:
3	chr16:70728939..70732766-chr16:70778342..70782420,7	MCF-7	breast:
4	chr16:70772901..70775899-chr16:70833943..70836522,3	K562	blood:
5	chr16:70745613..70748451-chr16:70833649..70836455,2	K562	blood:
6	chr16:70713079..70721608-chr16:70767367..70776352,14	MCF-7	breast:
7	chr16:70780242..70783791-chr16:70785979..70788934,3	K562	blood:
8	chr16:70735376..70737642-chr16:70737721..70740521,2	K562	blood:
9	chr16:70690639..70692190-chr16:70786277..70788238,2	MCF-7	breast:
10	chr16:70771729..70774154-chr16:70798370..70800004,2	MCF-7	breast:
11	chr16:70687934..70690062-chr16:70784015..70786102,2	K562	blood:
12	chr16:70731211..70733556-chr16:70795711..70798621,2	MCF-7	breast:
13	chr16:70747966..70750643-chr16:70785979..70788271,2	MCF-7	breast:
14	chr16:70718829..70721529-chr16:70784921..70786790,2	MCF-7	breast:
15	chr16:70731581..70732230-chr16:70771694..70772666,3	MCF-7	breast:
16	chr16:70717596..70719954-chr16:70769240..70771432,3	K562	blood:
17	chr16:70751340..70753059-chr16:70768605..70771567,2	MCF-7	breast:
18	chr16:70771954..70772860-chr16:70804324..70805624,4	MCF-7	breast:
19	chr16:70613262..70615698-chr16:70787061..70789499,2	K562	blood:
20	chr16:70773737..70776366-chr16:70784353..70786152,2	K562	blood:
21	chr16:70737004..70737719-chr16:70772011..70772709,2	MCF-7	breast:
22	chr16:70733046..70734873-chr16:70779967..70781686,2	MCF-7	breast:
23	chr16:70739819..70742523-chr17:57918243..57919876,2	MCF-7	breast:
24	chr16:70782914..70785498-chr16:70796849..70798570,2	K562	blood:
25	chr16:70729813..70732672-chr16:70787716..70789495,2	MCF-7	breast:
26	chr16:70748975..70750633-chr16:70770017..70771781,2	MCF-7	breast:
27	chr16:70719643..70722366-chr16:70763301..70764917,2	MCF-7	breast:
28	chr16:70763729..70766674-chr16:70767583..70772048,4	K562	blood:
29	chr16:70734375..70737351-chr16:70807793..70809854,2	K562	blood:
30	chr16:70725942..70727688-chr16:70759419..70762080,2	K562	blood:
31	chr16:70765832..70768076-chr16:70774273..70775782,2	MCF-7	breast:
32	chr16:70773737..70776366-chr16:70784353..70786152,2	K562	blood:
33	chr16:70769869..70777910-chr16:70778144..70784375,13	MCF-7	breast:
34	chr16:70728125..70734937-chr16:70778355..70783574,11	MCF-7	breast:
35	chr16:70767547..70769820-chr16:70770075..70772238,2	K562	blood:
36	chr16:70753099..70755239-chr16:70768073..70771716,3	MCF-7	breast:
37	chr16:70736848..70738799-chr16:70767007..70768655,2	MCF-7	breast:
38	chr16:70752517..70754649-chr16:70779164..70781135,2	MCF-7	breast:
39	chr16:70789320..70790990-chr16:70796401..70798461,2	K562	blood:
40	chr16:70719656..70721781-chr16:70748712..70752057,3	K562	blood:
41	chr16:70690342..70691295-chr16:70772056..70772920,4	MCF-7	breast:
42	chr16:70748104..70753433-chr16:70779056..70781695,7	MCF-7	breast:
43	chr16:70735376..70737642-chr16:70737721..70740521,2	K562	blood:
44	chr16:70777980..70780022-chr16:70780577..70783431,2	K562	blood:
45	chr16:70770493..70773338-chr16:70791778..70794267,2	MCF-7	breast:
46	chr16:70725942..70727688-chr16:70759419..70762080,2	K562	blood:
47	chr16:70732792..70734503-chr16:70772577..70775299,2	MCF-7	breast:
48	chr16:70760849..70763441-chr16:70769230..70771713,2	MCF-7	breast:
49	chr16:70690821..70691363-chr16:70772002..70772898,2	MCF-7	breast:
50	chr16:70761517..70763051-chr16:70766034..70768582,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL34-2	chr16:70789916-70789990	NONHSAT143445
2	lnc-IL34-2	chr16:70789001-70789152	ENSG00000214353.3
3	lnc-IL34-2	chr16:70789036-70789152	ENSG00000214353.3
4	lnc-IL34-2	chr16:70788863-70789152	NONHSAT143445
5	lnc-IL34-2	chr16:70788963-70789152	NONHSAT143446
6	lnc-IL34-2	chr16:70789916-70789990	ENSG00000214353.3
7	lnc-IL34-2	chr16:70789916-70789990	ENSG00000214353.3
8	lnc-IL34-2	chr16:70789916-70789990	NONHSAT143446

No data

Variant related genes	Relation type
MTSS1L	TF binding region
VAC14	TF binding region
VAC14-AS1	TF binding region
ENSG00000260156	TF binding region
MTSS1L	CpG island
VAC14	CpG island
VAC14-AS1	CpG island
ENSG00000260156	CpG island
ENSG00000262890	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000268927	chromatin interactions
ENSG00000103051	chromatin interactions
ENSG00000181019	chromatin interactions
ENSG00000103043	chromatin interactions
ENSG00000157368	chromatin interactions
ENSG00000260156	chromatin interactions
ENSG00000132613	chromatin interactions
ENSG00000262136	chromatin interactions
ENSG00000214353	chromatin interactions
ENSG00000163393	chromatin interactions
ENSG00000189091	chromatin interactions

Extended variants
information (count: 2934 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2934 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11648765	chr16:70724001-70724002	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs28421256	chr16:70724006-70724007	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs571525245	chr16:70724021-70724022	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs111230499	chr16:70724053-70724054	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs538497809	chr16:70724076-70724077	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs556757846	chr16:70724085-70724086	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs183324669	chr16:70724120-70724121	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs535975119	chr16:70724150-70724151	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs79512925	chr16:70724151-70724152	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs551443313	chr16:70724164-70724165	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs572796867	chr16:70724192-70724193	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs111903976	chr16:70724201-70724202	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs4985560	chr16:70724432-70724433	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs374807708	chr16:70724457-70724458	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs527749422	chr16:70724459-70724460	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs566520078	chr16:70724491-70724492	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs533757916	chr16:70724521-70724522	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs371349080	chr16:70724559-70724560	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs546849994	chr16:70724571-70724572	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs374876244	chr16:70724610-70724611	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs544892793	chr16:70724644-70724645	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs563092919	chr16:70724757-70724758	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs115754951	chr16:70724844-70724845	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs542372999	chr16:70724874-70724875	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs369295470	chr16:70724972-70724973	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs150390500	chr16:70725001-70725002	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs552541373	chr16:70725010-70725011	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs535428675	chr16:70725013-70725014	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs570727120	chr16:70725026-70725027	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs143897528	chr16:70725054-70725055	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs550444099	chr16:70725082-70725083	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs568737580	chr16:70725112-70725113	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs113929080	chr16:70725120-70725121	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs57682106	chr16:70725124-70725125	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs146600890	chr16:70725136-70725137	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs533605205	chr16:70725137-70725138	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs3826272	chr16:70725141-70725142	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs537870294	chr16:70725156-70725157	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs576875187	chr16:70725164-70725165	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs544957823	chr16:70725198-70725199	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs572517276	chr16:70725264-70725265	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs373894378	chr16:70725307-70725308	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs557297407	chr16:70725309-70725310	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs78557852	chr16:70725310-70725311	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs115021889	chr16:70725317-70725318	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs4985561	chr16:70725326-70725327	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs3837791	chr16:70725367-70725368	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs397841296	chr16:70725368-70725369	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs368297321	chr16:70725372-70725373	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs545941468	chr16:70725373-70725374	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	18923524	CNVD

Chromatin state (count:3681 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70719400-70727800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr16:70719400-70729200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:70719400-70729400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr16:70719800-70732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:70720000-70732200	Enhancers	Fetal Brain Male	brain
6	chr16:70720200-70728200	Enhancers	Fetal Heart	heart
7	chr16:70720400-70725400	Enhancers	Esophagus	oesophagus
8	chr16:70720400-70725400	Enhancers	Lung	lung
9	chr16:70720400-70727000	Enhancers	Colonic Mucosa	Colon
10	chr16:70720400-70729200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr16:70720400-70729600	Enhancers	Right Atrium	heart
12	chr16:70720400-70732400	Enhancers	Right Ventricle	heart
13	chr16:70720400-70733400	Enhancers	Left Ventricle	heart
14	chr16:70720400-70753200	Weak transcription	Primary B cells from cord blood	blood
15	chr16:70720600-70724400	Enhancers	Ovary	ovary
16	chr16:70720600-70726200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr16:70720600-70726800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr16:70720600-70728200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr16:70720600-70728600	Enhancers	Placenta	Placenta
20	chr16:70720600-70728800	Weak transcription	Primary T cells from cord blood	blood
21	chr16:70720600-70729000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr16:70720600-70729200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:70720600-70729600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr16:70720600-70729600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr16:70720600-70729800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr16:70720600-70730000	Enhancers	Psoas Muscle	Psoas
27	chr16:70720600-70731800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:70720800-70724400	Enhancers	Thymus	Thymus
29	chr16:70720800-70726600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr16:70720800-70727600	Enhancers	Brain Substantia Nigra	brain
31	chr16:70720800-70727600	Weak transcription	Dnd41	blood
32	chr16:70720800-70729800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr16:70720800-70730200	Enhancers	Adipose Nuclei	Adipose
34	chr16:70720800-70731800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr16:70720800-70732400	Genic enhancers	Fetal Stomach	stomach
36	chr16:70721000-70725400	Enhancers	NHLF	lung
37	chr16:70721000-70727200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr16:70721000-70728800	Enhancers	Fetal Muscle Trunk	muscle
39	chr16:70721000-70732400	Genic enhancers	Fetal Intestine Small	intestine
40	chr16:70721200-70724600	Enhancers	Fetal Thymus	thymus
41	chr16:70721200-70725800	Enhancers	Fetal Muscle Leg	muscle
42	chr16:70721200-70726400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr16:70721200-70727400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr16:70721200-70728000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr16:70721200-70728200	Enhancers	Fetal Lung	lung
46	chr16:70721200-70730000	Enhancers	Brain Anterior Caudate	brain
47	chr16:70721200-70730200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr16:70721200-70730200	Enhancers	NHDF-Ad	bronchial
49	chr16:70721400-70726200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr16:70721400-70728000	Weak transcription	K562	blood

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