Variant report

Variant	nsv482137
Chromosome Location	chr1:161475205-161489359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:251)
CpG islands
(count:183)
Chromatin interactive
region (count:8)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:161476428-161477054	K562	blood:	n/a	n/a
2	ARID3A	chr1:161474978-161475366	K562	blood:	n/a	n/a
3	ATF1	chr1:161474900-161475448	K562	blood:	n/a	n/a
4	ATF2	chr1:161476344-161476795	GM12878	blood:	n/a	n/a
5	BATF	chr1:161475112-161475363	GM12878	blood:	n/a	n/a
6	BCL3	chr1:161476363-161476761	GM12878	blood:	n/a	n/a
7	BCLAF1	chr1:161476419-161476758	GM12878	blood:	n/a	n/a
8	BHLHE40	chr1:161476191-161476499	HepG2	liver:	n/a	n/a
9	BHLHE40	chr1:161476778-161476984	HepG2	liver:	n/a	n/a
10	BHLHE40	chr1:161476554-161476689	GM12878	blood:	n/a	n/a
11	BHLHE40	chr1:161475741-161477019	K562	blood:	n/a	n/a
12	BHLHE40	chr1:161475056-161475420	K562	blood:	n/a	n/a
13	CBX3	chr1:161474883-161475371	K562	blood:	n/a	n/a
14	CBX3	chr1:161476158-161476866	K562	blood:	n/a	n/a
15	CEBPB	chr1:161488702-161488708	K562	blood:	n/a	n/a
16	CEBPB	chr1:161476475-161476708	IMR90	lung:	n/a	n/a
17	CEBPB	chr1:161474983-161475469	K562	blood:	n/a	n/a
18	CEBPB	chr1:161476444-161476882	K562	blood:	n/a	n/a
19	CEBPB	chr1:161488532-161488734	A549	lung:	n/a	n/a
20	CEBPB	chr1:161488598-161488720	IMR90	lung:	n/a	n/a
21	CEBPB	chr1:161488528-161488724	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr1:161488521-161488729	HepG2	liver:	n/a	n/a
23	CHD2	chr1:161476524-161476723	K562	blood:	n/a	n/a
24	CTCF	chr1:161479908-161479999	GM20000	blood:	n/a	n/a
25	CTCF	chr1:161486777-161486864	GM13976	blood:	n/a	n/a
26	CUX1	chr1:161476439-161476601	K562	blood:	n/a	n/a
27	CUX1	chr1:161474950-161475749	K562	blood:	n/a	n/a
28	CUX1	chr1:161476598-161476696	GM12878	blood:	n/a	n/a
29	E2F4	chr1:161476477-161476734	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F6	chr1:161476306-161476587	K562	blood:	n/a	n/a
31	EBF1	chr1:161475035-161475420	GM12878	blood:	n/a	chr1:161475053-161475062
32	EBF1	chr1:161475884-161476137	GM12878	blood:	n/a	chr1:161476046-161476057
33	EGR1	chr1:161476345-161476656	K562	blood:	n/a	chr1:161476461-161476475
34	EGR1	chr1:161476282-161476645	K562	blood:	n/a	chr1:161476461-161476475
35	EGR1	chr1:161476374-161476551	GM12878	blood:	n/a	chr1:161476461-161476475
36	ELF1	chr1:161474988-161475334	K562	blood:	n/a	n/a
37	EP300	chr1:161476588-161476620	GM12878	blood:	n/a	n/a
38	EP300	chr1:161475123-161475228	K562	blood:	n/a	n/a
39	EP300	chr1:161476341-161476693	K562	blood:	n/a	n/a
40	EP300	chr1:161475071-161475261	GM12878	blood:	n/a	n/a
41	EP300	chr1:161474878-161475411	K562	blood:	n/a	chr1:161474997-161475011
42	EP300	chr1:161475224-161475321	GM12878	blood:	n/a	n/a
43	EP300	chr1:161476512-161476526	GM12878	blood:	n/a	n/a
44	FOS	chr1:161483767-161484228	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr1:161485381-161485536	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr1:161485360-161485560	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr1:161476336-161476881	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr1:161476377-161476690	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr1:161476335-161476771	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr1:161483871-161484163	MCF10A-Er-Src	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161475869-161475919	HUVEC	blood vessel:	n/a
2	chr1:161476548-161476598	GM12891	blood:	n/a
3	chr1:161476548-161476598	ovcar-3	ovarian:	n/a
4	chr1:161475869-161475919	Hela-S3	cervix:	n/a
5	chr1:161475240-161475290	HIPEpiC	eye:	n/a
6	chr1:161476548-161476598	SKMC	muscle:	n/a
7	chr1:161475869-161475919	T-47D	breast:	n/a
8	chr1:161475869-161475919	HCPEpiC	choroid plexus:	n/a
9	chr1:161475240-161475290	HEK293	kidney:	embryo
10	chr1:161476548-161476598	HCF	heart:	n/a
11	chr1:161476548-161476598	PFSK-1	brain:	n/a
12	chr1:161476548-161476598	Hela-S3	cervix:	n/a
13	chr1:161475240-161475290	NB4	blood:	n/a
14	chr1:161475869-161475919	HPAEpiC	pulmonary alveolar:	n/a
15	chr1:161475240-161475290	RPTEC	kidney:	n/a
16	chr1:161476548-161476598	GM19239	blood:	n/a
17	chr1:161475869-161475919	GM12878	blood:	n/a
18	chr1:161475869-161475919	AG10803	skin:	n/a
19	chr1:161475240-161475290	HRE	kidney:	n/a
20	chr1:161475869-161475919	Caco-2	colon:	n/a
21	chr1:161475240-161475290	GM06990	blood:	n/a
22	chr1:161476548-161476598	HRE	kidney:	n/a
23	chr1:161475869-161475919	RPTEC	kidney:	n/a
24	chr1:161475869-161475919	IMR90	lung:	fetal
25	chr1:161475240-161475290	PFSK-1	brain:	n/a
26	chr1:161475869-161475919	HNPCEpiC	eye:	n/a
27	chr1:161475869-161475919	HRE	kidney:	n/a
28	chr1:161476548-161476598	NB4	blood:	n/a
29	chr1:161476548-161476598	NHDF-neo	bronchial:	n/a
30	chr1:161475869-161475919	NT2-D1	testis:	n/a
31	chr1:161476548-161476598	HRPEpiC	eye:	n/a
32	chr1:161475869-161475919	CMK	blood:	n/a
33	chr1:161475869-161475919	SK-N-MC	brain:	n/a
34	chr1:161475240-161475290	HCF	heart:	n/a
35	chr1:161475869-161475919	ProgFib	skin:	n/a
36	chr1:161475240-161475290	IMR90	lung:	fetal
37	chr1:161475869-161475919	ovcar-3	ovarian:	n/a
38	chr1:161475240-161475290	Caco-2	colon:	n/a
39	chr1:161475240-161475290	H1-hESC	embryonic stem cell:	embryo
40	chr1:161475869-161475919	GM12891	blood:	n/a
41	chr1:161475240-161475290	AG04450	lung:	fetal
42	chr1:161475869-161475919	GM19239	blood:	n/a
43	chr1:161475240-161475290	HNPCEpiC	eye:	n/a
44	chr1:161476548-161476598	SK-N-MC	brain:	n/a
45	chr1:161475240-161475290	MCF10A-Er-Src	breast:	n/a
46	chr1:161475869-161475919	NH-A	brain:	n/a
47	chr1:161475240-161475290	HEEpiC	esophagus:	n/a
48	chr1:161475240-161475290	AG10803	skin:	n/a
49	chr1:161475240-161475290	HCPEpiC	choroid plexus:	n/a
50	chr1:161476548-161476598	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr1:161467205..161469170-chr1:161473282..161475208,2	MCF-7	breast:
2	chr1:161474965..161477021-chr1:161694558..161697249,2	K562	blood:
3	chr1:161463651..161465255-chr1:161480977..161482805,2	K562	blood:
4	chr1:161476098..161478578-chr1:161492224..161494274,2	K562	blood:
5	chr1:161479389..161480900-chr1:161482776..161484874,2	K562	blood:
6	chr1:161474965..161476524-chr1:161694397..161697249,2	K562	blood:
7	chr1:161473850..161477562-chr1:161478106..161481269,5	K562	blood:
8	chr1:161474486..161476716-chr1:161488154..161490644,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSPA6-3	chr1:161475243-161475797	NONHSAT007171
2	lnc-HSPA6-3	chr1:161475249-161475342	NONHSAT007172
3	lnc-HSPA6-2	chr1:161487765-161487927	NONHSAT007173
4	lnc-HSPA6-3	chr1:161475777-161476239	NONHSAT007172
5	lnc-HSPA6-2	chr1:161487765-161487927	NONHSAT007175
6	lnc-HSPA6-2	chr1:161483688-161483722	NONHSAT007173
7	lnc-HSPA6-2	chr1:161484410-161484664	NONHSAT007174
8	lnc-HSPA6-2	chr1:161483685-161483722	ENSG00000273112.1
9	lnc-HSPA6-3	chr1:161476127-161476158	NONHSAT007171
10	lnc-HSPA6-2	chr1:161487765-161488393	NONHSAT007174
11	lnc-HSPA6-2	chr1:161482966-161483035	ENSG00000273112.1
12	lnc-FCGR3A-2	chr1:161484981-161485120	l_142_chr1:161484980-161544979_76bGuttman_hES
13	lnc-HSPA6-2	chr1:161487765-161487927	ENSG00000273112.1

No data

Variant related genes	Relation type
HSPA6	TF binding region
FCGR2A	TF binding region
ENSG00000273112	TF binding region
HSPA6	CpG island
FCGR2A	CpG island
ENSG00000273112	CpG island
ENSG00000173110	chromatin interactions
ENSG00000143226	chromatin interactions
ENSG00000273112	chromatin interactions
ENSG00000162746	chromatin interactions

Extended variants
information (count: 720 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:720 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200771460	chr1:161475240-161475241	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs369444267	chr1:161475242-161475243	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575432232	chr1:161475245-161475246	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs577732390	chr1:161475281-161475282	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs376631122	chr1:161475286-161475287	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs141594049	chr1:161475287-161475288	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs557302212	chr1:161475297-161475298	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs573934607	chr1:161475327-161475328	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs112591151	chr1:161475336-161475337	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs559534771	chr1:161475353-161475354	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs113343829	chr1:161475373-161475374	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs188798727	chr1:161475384-161475385	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs374230075	chr1:161475391-161475392	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs565005790	chr1:161475395-161475396	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs530825369	chr1:161475410-161475411	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs550517994	chr1:161475419-161475420	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs563908162	chr1:161475429-161475430	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs567320431	chr1:161475446-161475447	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs530369256	chr1:161475468-161475469	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs140132884	chr1:161475485-161475486	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs112207154	chr1:161475526-161475527	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs538825991	chr1:161475532-161475533	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs557847840	chr1:161475547-161475548	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs56022911	chr1:161475552-161475553	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs544400219	chr1:161475609-161475610	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs571323548	chr1:161475715-161475716	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs201955318	chr1:161475732-161475733	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs532871509	chr1:161475737-161475738	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs10494360	chr1:161475750-161475751	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs573668650	chr1:161475802-161475803	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs370878367	chr1:161475823-161475824	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs542936582	chr1:161475839-161475840	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs145559293	chr1:161475869-161475870	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs549279616	chr1:161475870-161475871	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs546268519	chr1:161475872-161475873	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs544836673	chr1:161475873-161475874	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs56315079	chr1:161475875-161475876	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs530961520	chr1:161475877-161475878	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs544292945	chr1:161475929-161475930	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs147155882	chr1:161475936-161475937	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs530019674	chr1:161475951-161475952	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs113917870	chr1:161476002-161476003	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs567016590	chr1:161476018-161476019	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs532746668	chr1:161476024-161476025	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs552758142	chr1:161476038-161476039	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs569469949	chr1:161476058-161476059	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs537183410	chr1:161476061-161476062	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs111794137	chr1:161476065-161476066	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs371373895	chr1:161476073-161476074	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs374633719	chr1:161476077-161476078	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Coronary artery disease	20973705	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161470400-161475600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:161472000-161475400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:161474200-161476400	Weak transcription	Osteobl	bone
4	chr1:161474400-161475600	Active TSS	K562	blood
5	chr1:161474400-161477000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr1:161474400-161477600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:161474800-161476800	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:161475000-161475800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:161475000-161476400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr1:161475000-161476600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:161475000-161477000	Enhancers	GM12878-XiMat	blood
12	chr1:161475000-161477200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr1:161475200-161475400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
14	chr1:161475200-161475400	Active TSS	Pancreas	Pancrea
15	chr1:161475200-161475400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
16	chr1:161475200-161475600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:161475200-161475600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr1:161475200-161475800	Enhancers	HepG2	liver
19	chr1:161475200-161476000	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr1:161475200-161476200	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr1:161475200-161476200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
22	chr1:161475200-161476200	Active TSS	Placenta	Placenta
23	chr1:161475200-161476400	Active TSS	Duodenum Mucosa	Duodenum
24	chr1:161475200-161477000	Active TSS	Brain Substantia Nigra	brain
25	chr1:161475200-161477000	Enhancers	Lung	lung
26	chr1:161475200-161477400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:161475200-161477400	Active TSS	Brain Anterior Caudate	brain
28	chr1:161475200-161477400	Enhancers	Fetal Thymus	thymus
29	chr1:161475200-161477600	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:161475400-161475600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
31	chr1:161475400-161475800	Active TSS	Rectal Smooth Muscle	rectum
32	chr1:161475400-161476200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
33	chr1:161475400-161476200	Weak transcription	Pancreas	Pancrea
34	chr1:161475400-161477000	Enhancers	HUVEC	blood vessel
35	chr1:161475400-161477200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr1:161475400-161477400	Active TSS	Brain Hippocampus Middle	brain
37	chr1:161475400-161477600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr1:161475600-161475800	Bivalent/Poised TSS	Left Ventricle	heart
39	chr1:161475600-161475800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
40	chr1:161475600-161476000	Active TSS	Brain Angular Gyrus	brain
41	chr1:161475600-161476000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
42	chr1:161475600-161476000	Active TSS	Right Ventricle	heart
43	chr1:161475600-161476200	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr1:161475600-161476800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr1:161475600-161477000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:161475600-161477000	Active TSS	Brain Cingulate Gyrus	brain
47	chr1:161475600-161477400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:161475600-161477400	Transcr. at gene 5' and 3'	K562	blood
49	chr1:161475800-161476200	Active TSS	Colonic Mucosa	Colon
50	chr1:161475800-161476600	Active TSS	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links