Variant report

Variant	nsv960003
Chromosome Location	chr16:31540814-31561659
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	chr16:31547152-31547534	K562	blood:	n/a	n/a
2	BACH1	chr16:31541154-31541210	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr16:31541422-31541576	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr16:31546996-31547504	K562	blood:	n/a	chr16:31547290-31547311
5	CBX3	chr16:31551127-31551388	K562	blood:	n/a	n/a
6	CBX3	chr16:31551045-31551459	K562	blood:	n/a	n/a
7	CBX3	chr16:31554052-31554593	K562	blood:	n/a	n/a
8	CCNT2	chr16:31547097-31547403	K562	blood:	n/a	n/a
9	CEBPB	chr16:31546706-31546949	K562	blood:	n/a	n/a
10	CEBPD	chr16:31547037-31547439	K562	blood:	n/a	n/a
11	CEBPD	chr16:31546989-31547437	K562	blood:	n/a	n/a
12	CHD2	chr16:31542587-31542594	HepG2	liver:	n/a	n/a
13	CTCF	chr16:31544853-31544950	GM10248	blood:	n/a	n/a
14	CTCF	chr16:31541120-31541270	Caco-2	colon:	n/a	n/a
15	CTCF	chr16:31540940-31541090	BJ	skin:	n/a	n/a
16	CTCF	chr16:31550156-31550255	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr16:31540972-31541278	K562	blood:	n/a	n/a
18	CTCF	chr16:31555420-31555570	Caco-2	colon:	n/a	n/a
19	CTCF	chr16:31541018-31541054	K562	blood:	n/a	n/a
20	CTCF	chr16:31540980-31541130	K562	blood:	n/a	n/a
21	CTCF	chr16:31549013-31549065	Lung_OC	lung:	n/a	n/a
22	CTCF	chr16:31541060-31541210	HepG2	liver:	n/a	n/a
23	E2F6	chr16:31540927-31541182	K562	blood:	n/a	chr16:31541081-31541088 chr16:31541081-31541088 chr16:31541081-31541088
24	E2F6	chr16:31540776-31540911	K562	blood:	n/a	n/a
25	EGR1	chr16:31540701-31541162	K562	blood:	n/a	n/a
26	EGR1	chr16:31541309-31541568	K562	blood:	n/a	n/a
27	EGR1	chr16:31540922-31541144	K562	blood:	n/a	n/a
28	EP300	chr16:31547096-31547510	K562	blood:	n/a	n/a
29	EP300	chr16:31559888-31560000	K562	blood:	n/a	n/a
30	EP300	chr16:31547034-31547497	K562	blood:	n/a	n/a
31	FOXA1	chr16:31541562-31541885	HepG2	liver:	n/a	n/a
32	GATA1	chr16:31546580-31547602	PBDE	blood:	n/a	chr16:31547327-31547336
33	GATA1	chr16:31546908-31547708	K562	blood:	n/a	chr16:31547327-31547336
34	GATA2	chr16:31547058-31547298	SH-SY5Y	brain:	n/a	n/a
35	GATA2	chr16:31547005-31547451	K562	blood:	n/a	chr16:31547327-31547336
36	GATA3	chr16:31546989-31547524	MCF-7	breast:	n/a	chr16:31547327-31547336
37	GTF2F1	chr16:31541209-31541235	K562	blood:	n/a	n/a
38	GTF2F1	chr16:31541251-31541259	H1-hESC	embryonic stem cell:	n/a	n/a
39	HMGN3	chr16:31548223-31548423	K562	blood:	n/a	n/a
40	HNF4A	chr16:31543503-31543780	HepG2	liver:	n/a	chr16:31543723-31543735 chr16:31543578-31543593 chr16:31543723-31543736 chr16:31543579-31543592 chr16:31543701-31543716 chr16:31543703-31543715 chr16:31543723-31543735 chr16:31543580-31543593 chr16:31543703-31543716 chr16:31543702-31543716 chr16:31543718-31543740 chr16:31543580-31543592 chr16:31543701-31543716 chr16:31543578-31543593 chr16:31543701-31543709 chr16:31543578-31543593 chr16:31543580-31543592 chr16:31543580-31543592 chr16:31543703-31543715 chr16:31543701-31543716 chr16:31543703-31543715 chr16:31543722-31543736 chr16:31543703-31543716 chr16:31543700-31543718 chr16:31543701-31543716 chr16:31543702-31543716 chr16:31543578-31543593 chr16:31543702-31543715 chr16:31543580-31543592 chr16:31543577-31543595 chr16:31543580-31543593 chr16:31543703-31543716 chr16:31543703-31543715 chr16:31543723-31543736 chr16:31543720-31543738 chr16:31543579-31543593 chr16:31543580-31543593 chr16:31543702-31543710 chr16:31543698-31543720 chr16:31543701-31543716 chr16:31543702-31543714
41	HNF4A	chr16:31543525-31543827	HepG2	liver:	n/a	chr16:31543723-31543735 chr16:31543578-31543593 chr16:31543723-31543736 chr16:31543579-31543592 chr16:31543701-31543716 chr16:31543703-31543715 chr16:31543723-31543735 chr16:31543580-31543593 chr16:31543703-31543716 chr16:31543702-31543716 chr16:31543718-31543740 chr16:31543580-31543592 chr16:31543701-31543716 chr16:31543578-31543593 chr16:31543701-31543709 chr16:31543578-31543593 chr16:31543580-31543592 chr16:31543580-31543592 chr16:31543703-31543715 chr16:31543701-31543716 chr16:31543703-31543715 chr16:31543722-31543736 chr16:31543703-31543716 chr16:31543700-31543718 chr16:31543701-31543716 chr16:31543702-31543716 chr16:31543578-31543593 chr16:31543702-31543715 chr16:31543580-31543592 chr16:31543577-31543595 chr16:31543580-31543593 chr16:31543703-31543716 chr16:31543703-31543715 chr16:31543723-31543736 chr16:31543720-31543738 chr16:31543579-31543593 chr16:31543580-31543593 chr16:31543702-31543710 chr16:31543698-31543720 chr16:31543701-31543716 chr16:31543702-31543714
42	HNF4G	chr16:31543470-31543821	HepG2	liver:	n/a	chr16:31543723-31543735 chr16:31543723-31543736 chr16:31543579-31543592 chr16:31543701-31543716 chr16:31543703-31543715 chr16:31543723-31543735 chr16:31543580-31543593 chr16:31543703-31543716 chr16:31543702-31543716 chr16:31543718-31543740 chr16:31543580-31543592 chr16:31543701-31543716 chr16:31543578-31543593 chr16:31543701-31543709 chr16:31543578-31543593 chr16:31543580-31543592 chr16:31543580-31543592 chr16:31543703-31543715 chr16:31543701-31543716 chr16:31543703-31543715 chr16:31543722-31543736 chr16:31543703-31543716 chr16:31543700-31543718 chr16:31543701-31543716 chr16:31543702-31543716 chr16:31543578-31543593 chr16:31543702-31543715 chr16:31543580-31543592 chr16:31543577-31543595 chr16:31543580-31543593 chr16:31543703-31543716 chr16:31543703-31543715 chr16:31543723-31543736 chr16:31543720-31543738 chr16:31543579-31543593 chr16:31543580-31543593 chr16:31543702-31543710 chr16:31543698-31543720 chr16:31543701-31543716 chr16:31543702-31543714
43	IRF1	chr16:31547098-31547498	K562	blood:	n/a	n/a
44	IRF1	chr16:31542038-31542141	K562	blood:	n/a	n/a
45	JUND	chr16:31541023-31541068	K562	blood:	n/a	n/a
46	JUND	chr16:31547144-31547434	K562	blood:	n/a	n/a
47	KAP1	chr16:31551178-31551336	K562	blood:	n/a	n/a
48	KAP1	chr16:31554030-31554461	K562	blood:	n/a	n/a
49	MAFF	chr16:31541720-31542078	HepG2	liver:	n/a	n/a
50	MAFK	chr16:31541715-31542078	HepG2	liver:	n/a	chr16:31541886-31541901

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:31550823-31550873	NHBE	bronchial:	n/a
2	chr16:31550823-31550873	NHBE	bronchial:	n/a
3	chr16:31548698-31548748	NHDF-neo	bronchial:	n/a
4	chr16:31558017-31558067	NHDF-neo	bronchial:	n/a
5	chr16:31541116-31541166	BE2_C	brain:	n/a
6	chr16:31548908-31548958	ovcar-3	ovarian:	n/a
7	chr16:31540879-31540929	HRCEpiC	kidney:	n/a
8	chr16:31546355-31546405	BE2_C	brain:	n/a
9	chr16:31551613-31551663	BJ	skin:	n/a
10	chr16:31548640-31548690	HEEpiC	esophagus:	n/a
11	chr16:31541298-31541348	U87	brain:	n/a
12	chr16:31540879-31540929	BE2_C	brain:	n/a
13	chr16:31541298-31541348	HMEC	breast:	n/a
14	chr16:31558017-31558067	T-47D	breast:	n/a
15	chr16:31540879-31540929	HCF	heart:	n/a
16	chr16:31541116-31541166	HRPEpiC	eye:	n/a
17	chr16:31541116-31541166	HUVEC	blood vessel:	n/a
18	chr16:31551613-31551663	H1-hESC	embryonic stem cell:	embryo
19	chr16:31548640-31548690	HNPCEpiC	eye:	n/a
20	chr16:31550823-31550873	HMEC	breast:	n/a
21	chr16:31550823-31550873	Hepatocyte	liver:	n/a
22	chr16:31541298-31541348	HUVEC	blood vessel:	n/a
23	chr16:31550823-31550873	H1-hESC	embryonic stem cell:	embryo
24	chr16:31540879-31540929	HL-60	blood:	n/a
25	chr16:31548908-31548958	MCF10A-Er-Src	breast:	n/a
26	chr16:31541116-31541166	ovcar-3	ovarian:	n/a
27	chr16:31558017-31558067	GM12892	blood:	n/a
28	chr16:31550823-31550873	Caco-2	colon:	n/a
29	chr16:31551613-31551663	Hepatocyte	liver:	n/a
30	chr16:31551613-31551663	HAEpiC	amniotic membrane:	n/a
31	chr16:31558017-31558067	K562	blood:	n/a
32	chr16:31549141-31549191	Jurkat	blood:	n/a
33	chr16:31548756-31548806	HepG2	liver:	n/a
34	chr16:31551613-31551663	SKMC	muscle:	n/a
35	chr16:31548698-31548748	ProgFib	skin:	n/a
36	chr16:31548756-31548806	NH-A	brain:	n/a
37	chr16:31548908-31548958	BE2_C	brain:	n/a
38	chr16:31541116-31541166	HCF	heart:	n/a
39	chr16:31548908-31548958	AG09309	skin:	n/a
40	chr16:31550823-31550873	SAEC	small airway:	n/a
41	chr16:31546355-31546405	AG04449	skin:	fetal
42	chr16:31548698-31548748	SAEC	small airway:	n/a
43	chr16:31551613-31551663	AG04450	lung:	fetal
44	chr16:31546355-31546405	HCPEpiC	choroid plexus:	n/a
45	chr16:31541298-31541348	HNPCEpiC	eye:	n/a
46	chr16:31541116-31541166	GM12892	blood:	n/a
47	chr16:31548640-31548690	HAEpiC	amniotic membrane:	n/a
48	chr16:31541298-31541348	Caco-2	colon:	n/a
49	chr16:31541116-31541166	Hela-S3	cervix:	n/a
50	chr16:31540879-31540929	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31542180..31543844-chr16:31548477..31549987,2	K562	blood:
2	chr16:31539583..31542235-chr16:31544201..31546359,2	MCF-7	breast:
3	chr16:31539583..31542235-chr16:31544201..31546359,2	MCF-7	breast:
4	chr16:31518860..31520696-chr16:31547620..31550269,2	K562	blood:
5	chr16:31517850..31520614-chr16:31538452..31541283,3	K562	blood:
6	chr16:31465139..31468071-chr16:31552229..31554191,2	K562	blood:
7	chr16:31530119..31532090-chr16:31539372..31541784,2	MCF-7	breast:
8	chr16:31542180..31543844-chr16:31548477..31549987,2	K562	blood:
9	chr16:31509683..31512243-chr16:31553678..31556301,2	K562	blood:
10	chr16:31538973..31542338-chr16:31544451..31548039,3	K562	blood:
11	chr16:31537316..31539067-chr16:31539316..31542062,2	K562	blood:
12	chr16:31538973..31541189-chr16:31544451..31547284,2	K562	blood:
13	chr16:31517756..31521127-chr16:31538452..31541350,5	K562	blood:
14	chr16:31543866..31545433-chr16:31724291..31726086,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AHSP-1	chr16:31558126-31559058	NONHSAT141931
2	lnc-C16orf58-3	chr16:31560464-31560608	ENSG00000261475.2
3	lnc-C16orf58-3	chr16:31554160-31554190	NONHSAT141929
4	lnc-C16orf58-3	chr16:31560406-31560608	NONHSAT141932
5	lnc-C16orf58-2	chr16:31558019-31558558	ENSG00000261648.1

Variant related genes	Relation type
VN1R65P	TF binding region
VN1R64P	TF binding region
ENSG00000261648	TF binding region
VN1R65P	CpG island
VN1R64P	CpG island
ENSG00000261648	CpG island
ENSG00000260625	chromatin interactions
ENSG00000169877	chromatin interactions
ENSG00000140688	chromatin interactions
ENSG00000197302	chromatin interactions

Extended variants
information (count: 652 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:652 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370959222	chr16:31540877-31540878	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs554606657	chr16:31540880-31540881	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs202127336	chr16:31540881-31540882	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs566715103	chr16:31540897-31540898	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs60421565	chr16:31540955-31540956	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs558495742	chr16:31540959-31540960	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs57204609	chr16:31541133-31541134	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543931711	chr16:31541233-31541234	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs555838166	chr16:31541244-31541245	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs574733352	chr16:31541279-31541280	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs4468642	chr16:31541401-31541402	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs560623418	chr16:31541423-31541424	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs78092705	chr16:31541425-31541426	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs398100144	chr16:31541427-31541428	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs542185208	chr16:31541463-31541464	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs141672330	chr16:31541486-31541487	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs61183892	chr16:31541510-31541511	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs4587995	chr16:31541524-31541525	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs531713296	chr16:31541559-31541560	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560561158	chr16:31541609-31541610	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs58618301	chr16:31541625-31541626	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs111969772	chr16:31541646-31541647	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs116529267	chr16:31541651-31541652	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs540407882	chr16:31541655-31541656	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs182135538	chr16:31541664-31541665	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs35243862	chr16:31541701-31541702	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs78518084	chr16:31541706-31541707	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs76929896	chr16:31541723-31541724	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs187098988	chr16:31541765-31541766	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs74015550	chr16:31541776-31541777	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs561704885	chr16:31541792-31541793	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs537439884	chr16:31541855-31541856	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143805472	chr16:31541862-31541863	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12149682	chr16:31541865-31541866	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs374905848	chr16:31541870-31541871	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550559772	chr16:31541872-31541873	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192594126	chr16:31541931-31541932	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572531901	chr16:31541934-31541935	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546504228	chr16:31541945-31541946	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564764568	chr16:31541978-31541979	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185322429	chr16:31542020-31542021	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576544004	chr16:31542024-31542025	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543796969	chr16:31542161-31542162	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562187345	chr16:31542218-31542219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189806389	chr16:31542247-31542248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146863474	chr16:31542259-31542260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7201796	chr16:31542271-31542272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs527491911	chr16:31542318-31542319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552485617	chr16:31542360-31542361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570373703	chr16:31542373-31542374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Sezary syndrome	18413736	CNVD
Wilms tumour	21544195	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31539400-31541200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr16:31539400-31541600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr16:31539600-31541600	Bivalent/Poised TSS	Fetal Kidney	kidney
4	chr16:31540000-31541200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
5	chr16:31540000-31541400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr16:31540000-31541600	Active TSS	Colon Smooth Muscle	Colon
7	chr16:31540000-31541600	Enhancers	Gastric	stomach
8	chr16:31540000-31541800	Active TSS	Aorta	Aorta
9	chr16:31540200-31541200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
10	chr16:31540200-31541200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
11	chr16:31540200-31541200	Active TSS	Right Atrium	heart
12	chr16:31540200-31541200	Bivalent/Poised TSS	HSMM	muscle
13	chr16:31540200-31541400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr16:31540200-31541400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr16:31540200-31541400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:31540200-31541400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr16:31540200-31541400	Bivalent/Poised TSS	A549	lung
18	chr16:31540200-31541600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:31540200-31541600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:31540200-31541600	Bivalent/Poised TSS	Colonic Mucosa	Colon
21	chr16:31540200-31541800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr16:31540400-31541000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:31540400-31541000	Active TSS	Primary T cells from cord blood	blood
24	chr16:31540400-31541000	Bivalent/Poised TSS	Psoas Muscle	Psoas
25	chr16:31540400-31541200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:31540400-31541200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr16:31540400-31541200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:31540400-31541200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:31540400-31541200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr16:31540400-31541200	Bivalent/Poised TSS	Fetal Lung	lung
31	chr16:31540400-31541200	Active TSS	Ovary	ovary
32	chr16:31540400-31541200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
33	chr16:31540400-31541200	Active TSS	Right Ventricle	heart
34	chr16:31540400-31541400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr16:31540400-31541400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:31540400-31541400	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr16:31540400-31541600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr16:31540400-31541600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr16:31540400-31541600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr16:31540600-31541000	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
41	chr16:31540600-31541000	Bivalent/Poised TSS	Fetal Stomach	stomach
42	chr16:31540600-31541000	Bivalent/Poised TSS	Left Ventricle	heart
43	chr16:31540600-31541000	Active TSS	Lung	lung
44	chr16:31540600-31541000	Active TSS	Stomach Smooth Muscle	stomach
45	chr16:31540600-31541200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr16:31540600-31541200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr16:31540600-31541200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:31540600-31541200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
49	chr16:31540600-31541200	Active TSS	Pancreas	Pancrea
50	chr16:31540600-31541200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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