Variant report

Variant	nsv1000352
Chromosome Location	chr1:113350929-113405903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:785)
CpG islands
(count:610)
Chromatin interactive
region (count:23)
LncRNA
region (count:47)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:785 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:113361609-113362080	K562	blood:	n/a	n/a
2	ARID3A	chr1:113351927-113352047	K562	blood:	n/a	n/a
3	ARID3A	chr1:113364601-113364621	K562	blood:	n/a	n/a
4	ATF1	chr1:113368934-113369127	K562	blood:	n/a	n/a
5	ATF1	chr1:113358180-113358321	K562	blood:	n/a	n/a
6	ATF1	chr1:113361455-113362260	K562	blood:	n/a	n/a
7	ATF2	chr1:113361688-113362329	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr1:113360354-113361101	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr1:113360312-113360981	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr1:113351798-113352310	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr1:113361668-113362112	K562	blood:	n/a	chr1:113361874-113361887 chr1:113361875-113361888 chr1:113361876-113361887 chr1:113361877-113361888 chr1:113361872-113361881 chr1:113361877-113361885 chr1:113361876-113361887 chr1:113361874-113361889
12	BACH1	chr1:113351802-113352124	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr1:113391962-113392548	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr1:113362178-113362187	K562	blood:	n/a	n/a
15	BATF	chr1:113387894-113388170	GM12878	blood:	n/a	chr1:113388042-113388053
16	BCL11A	chr1:113360520-113360968	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL11A	chr1:113360721-113360945	H1-hESC	embryonic stem cell:	n/a	n/a
18	BHLHE40	chr1:113351866-113352177	K562	blood:	n/a	n/a
19	BHLHE40	chr1:113361694-113362221	K562	blood:	n/a	n/a
20	BHLHE40	chr1:113351899-113352063	HepG2	liver:	n/a	n/a
21	BHLHE40	chr1:113351904-113352183	GM12878	blood:	n/a	n/a
22	BHLHE40	chr1:113383269-113383658	GM12878	blood:	n/a	n/a
23	BHLHE40	chr1:113368910-113369142	K562	blood:	n/a	n/a
24	BRCA1	chr1:113351900-113352197	H1-hESC	embryonic stem cell:	n/a	n/a
25	CBX3	chr1:113361628-113362302	K562	blood:	n/a	n/a
26	CCNT2	chr1:113361689-113362003	K562	blood:	n/a	n/a
27	CCNT2	chr1:113368847-113369134	K562	blood:	n/a	n/a
28	CEBPB	chr1:113386872-113387013	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr1:113360626-113361053	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr1:113394293-113394634	K562	blood:	n/a	n/a
31	CEBPB	chr1:113368884-113369057	K562	blood:	n/a	n/a
32	CEBPB	chr1:113383814-113384195	MCF-7	breast:	n/a	n/a
33	CEBPB	chr1:113397822-113398064	K562	blood:	n/a	chr1:113397958-113397969
34	CEBPB	chr1:113351848-113352149	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr1:113383779-113384209	MCF-7	breast:	n/a	n/a
36	CEBPB	chr1:113386784-113387058	K562	blood:	n/a	n/a
37	CEBPB	chr1:113394309-113394671	IMR90	lung:	n/a	n/a
38	CEBPB	chr1:113386881-113387074	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr1:113361725-113362045	K562	blood:	n/a	n/a
40	CEBPB	chr1:113397788-113398124	A549	lung:	n/a	chr1:113397958-113397969
41	CEBPB	chr1:113361699-113362183	IMR90	lung:	n/a	n/a
42	CEBPB	chr1:113361843-113361948	A549	lung:	n/a	n/a
43	CEBPB	chr1:113380987-113381014	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr1:113394303-113394797	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr1:113352086-113352100	K562	blood:	n/a	n/a
46	CEBPB	chr1:113361714-113362058	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr1:113394323-113394637	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr1:113368891-113369092	K562	blood:	n/a	n/a
49	CEBPB	chr1:113399996-113400299	K562	blood:	n/a	n/a
50	CEBPB	chr1:113361580-113362082	K562	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:113394877-113394927	AG04449	skin:	fetal
2	chr1:113393176-113393226	ProgFib	skin:	n/a
3	chr1:113393176-113393226	ovcar-3	ovarian:	n/a
4	chr1:113392116-113392166	NH-A	brain:	n/a
5	chr1:113392388-113392438	NHBE	bronchial:	n/a
6	chr1:113392617-113392667	U87	brain:	n/a
7	chr1:113392781-113392831	Jurkat	blood:	n/a
8	chr1:113392162-113392212	ECC-1	luminal epithelium:	n/a
9	chr1:113390019-113390069	T-47D	breast:	n/a
10	chr1:113393179-113393229	PrEC	prostate:	n/a
11	chr1:113392162-113392212	AG09309	skin:	n/a
12	chr1:113392781-113392831	LNCaP	prostate:	n/a
13	chr1:113394877-113394927	NHBE	bronchial:	n/a
14	chr1:113392116-113392166	BJ	skin:	n/a
15	chr1:113392781-113392831	HEEpiC	esophagus:	n/a
16	chr1:113392388-113392438	AG09319	gingival:	n/a
17	chr1:113393176-113393226	HEEpiC	esophagus:	n/a
18	chr1:113392116-113392166	GM06990	blood:	n/a
19	chr1:113392781-113392831	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:113392116-113392166	ProgFib	skin:	n/a
21	chr1:113393176-113393226	HNPCEpiC	eye:	n/a
22	chr1:113392388-113392438	HEEpiC	esophagus:	n/a
23	chr1:113393322-113393372	NHDF-neo	bronchial:	n/a
24	chr1:113392162-113392212	Hepatocyte	liver:	n/a
25	chr1:113392388-113392438	HepG2	liver:	n/a
26	chr1:113392116-113392166	PFSK-1	brain:	n/a
27	chr1:113392617-113392667	BE2_C	brain:	n/a
28	chr1:113393322-113393372	NB4	blood:	n/a
29	chr1:113390019-113390069	NB4	blood:	n/a
30	chr1:113392781-113392831	PFSK-1	brain:	n/a
31	chr1:113393322-113393372	T-47D	breast:	n/a
32	chr1:113393179-113393229	SAEC	small airway:	n/a
33	chr1:113392617-113392667	HNPCEpiC	eye:	n/a
34	chr1:113392162-113392212	SKMC	muscle:	n/a
35	chr1:113390019-113390069	RPTEC	kidney:	n/a
36	chr1:113394877-113394927	HNPCEpiC	eye:	n/a
37	chr1:113390019-113390069	GM12891	blood:	n/a
38	chr1:113392116-113392166	H1-hESC	embryonic stem cell:	embryo
39	chr1:113392162-113392212	MCF-7	breast:	n/a
40	chr1:113390019-113390069	GM19239	blood:	n/a
41	chr1:113393176-113393226	A549	lung:	n/a
42	chr1:113394877-113394927	SAEC	small airway:	n/a
43	chr1:113393322-113393372	AoSMC	blood vessel:	n/a
44	chr1:113392116-113392166	LNCaP	prostate:	n/a
45	chr1:113394877-113394927	GM19239	blood:	n/a
46	chr1:113392162-113392212	T-47D	breast:	n/a
47	chr1:113393179-113393229	NB4	blood:	n/a
48	chr1:113392162-113392212	NHDF-neo	bronchial:	n/a
49	chr1:113390019-113390069	AG09319	gingival:	n/a
50	chr1:113392162-113392212	AG04450	lung:	fetal

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113379016..113381976-chr1:113384140..113386902,2	MCF-7	breast:
2	chr1:113360437..113362050-chr1:113412669..113415625,2	K562	blood:
3	chr1:113258859..113259494-chr1:113351565..113352185,2	MCF-7	breast:
4	chr1:113393846..113396397-chr1:113410611..113412289,2	K562	blood:
5	chr1:113382661..113385204-chr1:113393197..113394858,2	MCF-7	breast:
6	chr1:113258681..113259438-chr1:113351567..113352234,2	MCF-7	breast:
7	chr1:113262194..113266688-chr1:113347880..113352224,5	MCF-7	breast:
8	chr1:113361966..113363872-chr1:113371616..113374347,2	K562	blood:
9	chr1:113351549..113352456-chr1:113584930..113585890,3	K562	blood:
10	chr1:113405858..113408757-chr1:113410736..113413457,2	K562	blood:
11	chr1:113256402..113259663-chr1:113350471..113353019,3	K562	blood:
12	chr1:113351562..113352325-chr1:113615161..113616117,3	MCF-7	breast:
13	chr1:113351564..113352512-chr1:113584963..113585860,4	MCF-7	breast:
14	chr1:113379016..113381976-chr1:113384140..113386902,2	MCF-7	breast:
15	chr1:113256920..113257653-chr1:113351799..113352468,2	MCF-7	breast:
16	chr1:113351744..113352435-chr1:113615333..113616324,3	K562	blood:
17	chr1:113351576..113352442-chr1:113423249..113424028,4	MCF-7	breast:
18	chr1:113350162..113352262-chr1:113614646..113616271,2	MCF-7	breast:
19	chr1:113361966..113363872-chr1:113371616..113374347,2	K562	blood:
20	chr1:113346242..113347922-chr1:113394008..113395856,2	MCF-7	breast:
21	chr1:113351443..113352326-chr1:113584981..113585924,5	MCF-7	breast:
22	chr1:113383663..113385223-chr1:113386866..113389078,2	MCF-7	breast:
23	chr1:113383663..113385223-chr1:113386866..113389078,2	MCF-7	breast:

(count:47 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC16A1-1	chr1:113391576-113391672	XLOC_000966
2	lnc-SLC16A1-1	chr1:113362912-113363160	ENSG00000215866.3
3	lnc-SLC16A1-1	chr1:113366275-113366376	XLOC_000966
4	lnc-SLC16A1-1	chr1:113383110-113383202	XLOC_000966
5	lnc-FAM19A3-5	chr1:113362647-113363601	NONHSAT005283
6	lnc-FAM19A3-2	chr1:113392698-113393049	XLOC_000348
7	lnc-SLC16A1-1	chr1:113392302-113392399	ENSG00000215866.3
8	lnc-SLC16A1-1	chr1:113383110-113383202	XLOC_000966
9	lnc-SLC16A1-1	chr1:113368135-113368380	XLOC_000966
10	lnc-SLC16A1-1	chr1:113392302-113392401	XLOC_000966
11	lnc-FAM19A3-7	chr1:113400759-113400763	NONHSAT005292
12	lnc-SLC16A1-1	chr1:113362912-113363160	XLOC_000966
13	lnc-SLC16A1-1	chr1:113371099-113371133	NONHSAT005284
14	lnc-SLC16A1-1	chr1:113362635-113363163	NONHSAT005282
15	lnc-FAM19A3-6	chr1:113377818-113377983	NONHSAT005288
16	lnc-FAM19A3-2	chr1:113392392-113393049	NONHSAT005289
17	lnc-SLC16A1-1	chr1:113392302-113392437	XLOC_000966
18	lnc-SLC16A1-1	chr1:113355832-113357984	ucscGeneNc_uc001ede_1
19	lnc-SLC16A1-1	chr1:113368135-113368294	XLOC_000966
20	lnc-SLC16A1-1	chr1:113392568-113392706	ucscGeneNc_uc001ede_1
21	lnc-SLC16A1-1	chr1:113366275-113366376	XLOC_000966
22	lnc-SLC16A1-1	chr1:113362792-113363160	XLOC_000966
23	lnc-SLC16A1-1	chr1:113368135-113368294	XLOC_000966
24	lnc-SLC16A1-1	chr1:113371099-113371133	XLOC_000966
25	lnc-SLC16A1-1	chr1:113368135-113368294	ENSG00000215866.3
26	lnc-SLC16A1-1	chr1:113366275-113366376	XLOC_000966
27	lnc-SLC16A1-1	chr1:113362796-113363163	XLOC_000966
28	lnc-SLC16A1-1	chr1:113383110-113383202	NONHSAT005284
29	lnc-FAM19A3-6	chr1:113352399-113352505	NONHSAT005281
30	lnc-FAM19A3-6	chr1:113390931-113391200	NONHSAT005288
31	lnc-FAM19A3-6	chr1:113390931-113391200	NONHSAT005281
32	lnc-SLC16A1-1	chr1:113366275-113366376	ENSG00000215866.3
33	lnc-SLC16A1-1	chr1:113392302-113393265	NONHSAT005284
34	lnc-SLC16A1-1	chr1:113362791-113363163	NONHSAT005284
35	lnc-FAM19A3-7	chr1:113399850-113401156	NONHSAT005291
36	lnc-SLC16A1-1	chr1:113366275-113366376	NONHSAT005284
37	lnc-FAM19A3-7	chr1:113400131-113400686	NONHSAT005292
38	lnc-SLC16A1-1	chr1:113368135-113368294	XLOC_000966
39	lnc-SLC16A1-1	chr1:113366275-113366376	XLOC_000966
40	lnc-SLC16A1-1	chr1:113383110-113383202	ENSG00000215866.3
41	lnc-SLC16A1-1	chr1:113368135-113368294	NONHSAT005284
42	lnc-SLC16A1-1	chr1:113368059-113368541	NONHSAT005282
43	lnc-SLC16A1-1	chr1:113391576-113391672	NONHSAT005284
44	lnc-FAM19A3-2	chr1:113392650-113393049	XLOC_000348
45	lnc-SLC16A1-1	chr1:113366275-113366435	NONHSAT005282
46	lnc-SLC16A1-1	chr1:113362878-113363160	XLOC_000966
47	lnc-SLC16A1-1	chr1:113392302-113393265	XLOC_000966

No data

Variant related genes	Relation type
ENSG00000224167	TF binding region
ENSG00000215866	TF binding region
ENSG00000224167	CpG island
ENSG00000215866	CpG island
ENSG00000261595	chromatin interactions
ENSG00000184599	chromatin interactions
ENSG00000198799	chromatin interactions
ENSG00000215866	chromatin interactions
ENSG00000155367	chromatin interactions
ENSG00000238198	chromatin interactions
SLC7A1	miRNA target sites
CDH12	miRNA target sites
NCOA7	miRNA target sites
NCOR2	miRNA target sites
NEK6	miRNA target sites
TUBB6	miRNA target sites
NCOR1	miRNA target sites
NR4A3	miRNA target sites
HAUS6	miRNA target sites
CREB3L2	miRNA target sites
CREB5	miRNA target sites
PPIF	miRNA target sites
CTDSPL	miRNA target sites

Extended variants
information (count: 2486 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2486 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4839265	chr1:113350929-113350930	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563741697	chr1:113350938-113350939	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs529381893	chr1:113350950-113350951	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs201418253	chr1:113350977-113350978	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs371715154	chr1:113350988-113350989	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs201402139	chr1:113350989-113350990	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs565736518	chr1:113351011-113351012	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs534861429	chr1:113351019-113351020	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs561079439	chr1:113351020-113351021	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs149820650	chr1:113351024-113351025	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs567280315	chr1:113351028-113351029	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs551223986	chr1:113351046-113351047	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs571214566	chr1:113351064-113351065	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs536622184	chr1:113351073-113351074	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs564409461	chr1:113351084-113351085	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs556554714	chr1:113351106-113351107	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs528411736	chr1:113351111-113351112	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs374623916	chr1:113351141-113351142	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs546889081	chr1:113351172-113351173	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs535945874	chr1:113351178-113351179	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs553077873	chr1:113351194-113351195	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs572538161	chr1:113351257-113351258	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs12724414	chr1:113351306-113351307	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs541652840	chr1:113351311-113351312	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs564720001	chr1:113351318-113351319	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs578254747	chr1:113351327-113351328	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs543803059	chr1:113351340-113351341	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs563655809	chr1:113351341-113351342	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs7520797	chr1:113351374-113351375	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs114733232	chr1:113351393-113351394	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs559809121	chr1:113351394-113351395	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs55787025	chr1:113351408-113351409	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551184814	chr1:113351508-113351509	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs571732470	chr1:113351537-113351538	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs139186760	chr1:113351580-113351581	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs188619383	chr1:113351620-113351621	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs141751303	chr1:113351628-113351629	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs539853589	chr1:113351632-113351633	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs551375186	chr1:113351634-113351635	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs567146664	chr1:113351657-113351658	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs536283919	chr1:113351661-113351662	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs182096175	chr1:113351725-113351726	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs59173613	chr1:113351762-113351763	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs566564286	chr1:113351770-113351771	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs535198566	chr1:113351826-113351827	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs568622077	chr1:113351854-113351855	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs578232956	chr1:113351870-113351871	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs71659376	chr1:113351897-113351898	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs115399432	chr1:113351911-113351912	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs150556365	chr1:113351925-113351926	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113337200-113351800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:113342000-113361800	Weak transcription	Right Atrium	heart
3	chr1:113347000-113352200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:113347200-113351600	Weak transcription	Stomach Mucosa	stomach
5	chr1:113347600-113351800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:113348200-113352000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:113348600-113352400	Enhancers	Placenta	Placenta
8	chr1:113348800-113351600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:113349000-113351000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:113349000-113351200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:113349000-113352000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:113349000-113352000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:113349200-113351800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:113349600-113351000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:113349600-113351000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:113350000-113351200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:113350200-113351200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:113350200-113352000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:113350200-113352200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:113350200-113352200	Enhancers	HSMMtube	muscle
21	chr1:113350400-113351600	Weak transcription	HMEC	breast
22	chr1:113350400-113351800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:113350400-113355600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:113350600-113351200	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr1:113350600-113351600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:113350600-113351600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:113350600-113351600	Weak transcription	NHEK	skin
28	chr1:113350600-113351800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:113350600-113351800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:113350600-113351800	Weak transcription	Psoas Muscle	Psoas
31	chr1:113350600-113352000	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:113350800-113351000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:113350800-113351000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr1:113350800-113351800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:113350800-113351800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:113350800-113351800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:113350800-113351800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:113350800-113352000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:113351000-113351400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:113351000-113351400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:113351000-113351400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:113351000-113351400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr1:113351000-113351800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:113351200-113351600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:113351200-113351600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:113351200-113351600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:113351200-113352400	Enhancers	Fetal Muscle Trunk	muscle
48	chr1:113351400-113351800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:113351400-113352200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr1:113351400-113352400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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