Variant report

Variant	nsv1055304
Chromosome Location	chr18:13671427-13777902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1319)
CpG islands
(count:1223)
Chromatin interactive
region (count:61)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:14)

(count:1319 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:13726473-13726853	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:13673721-13673835	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:13675910-13676580	HepG2	liver:	n/a	n/a
4	ARID3A	chr18:13725877-13726064	K562	blood:	n/a	n/a
5	ARID3A	chr18:13713752-13713804	HepG2	liver:	n/a	n/a
6	ARID3A	chr18:13680723-13680866	HepG2	liver:	n/a	n/a
7	ARID3A	chr18:13726502-13726755	K562	blood:	n/a	n/a
8	ARID3A	chr18:13675243-13675610	HepG2	liver:	n/a	n/a
9	ATF1	chr18:13726420-13726868	K562	blood:	n/a	n/a
10	ATF2	chr18:13726411-13726883	GM12878	blood:	n/a	chr18:13726660-13726671
11	ATF2	chr18:13726318-13726993	GM12878	blood:	n/a	chr18:13726660-13726671
12	ATF3	chr18:13726349-13726892	GM12878	blood:	n/a	chr18:13726450-13726458 chr18:13726658-13726671 chr18:13726660-13726671 chr18:13726661-13726669 chr18:13726660-13726671
13	ATF3	chr18:13726358-13726811	K562	blood:	n/a	chr18:13726450-13726458 chr18:13726658-13726671 chr18:13726660-13726671 chr18:13726661-13726669 chr18:13726660-13726671
14	ATF3	chr18:13726468-13726767	K562	blood:	n/a	chr18:13726658-13726671 chr18:13726660-13726671 chr18:13726661-13726669 chr18:13726660-13726671
15	ATF3	chr18:13726387-13726842	H1-hESC	embryonic stem cell:	n/a	chr18:13726450-13726458 chr18:13726658-13726671 chr18:13726660-13726671 chr18:13726661-13726669 chr18:13726660-13726671
16	ATF3	chr18:13726443-13726820	K562	blood:	n/a	chr18:13726450-13726458 chr18:13726658-13726671 chr18:13726660-13726671 chr18:13726661-13726669 chr18:13726660-13726671
17	ATF3	chr18:13726366-13726774	HepG2	liver:	n/a	chr18:13726450-13726458 chr18:13726658-13726671 chr18:13726660-13726671 chr18:13726661-13726669 chr18:13726660-13726671
18	ATF3	chr18:13726315-13726746	HepG2	liver:	n/a	chr18:13726450-13726458 chr18:13726658-13726671 chr18:13726660-13726671 chr18:13726661-13726669 chr18:13726660-13726671
19	ATF3	chr18:13726457-13726901	H1-hESC	embryonic stem cell:	n/a	chr18:13726658-13726671 chr18:13726660-13726671 chr18:13726661-13726669 chr18:13726660-13726671
20	ATF3	chr18:13726462-13726726	GM12878	blood:	n/a	chr18:13726658-13726671 chr18:13726660-13726671 chr18:13726661-13726669 chr18:13726660-13726671
21	BACH1	chr18:13727135-13727140	K562	blood:	n/a	n/a
22	BACH1	chr18:13726402-13726585	K562	blood:	n/a	n/a
23	BACH1	chr18:13671796-13671810	K562	blood:	n/a	n/a
24	BACH1	chr18:13726055-13727291	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr18:13758596-13758904	GM12878	blood:	n/a	n/a
26	BATF	chr18:13724200-13724480	GM12878	blood:	n/a	n/a
27	BATF	chr18:13726494-13726754	GM12878	blood:	n/a	n/a
28	BATF	chr18:13678514-13678866	GM12878	blood:	n/a	n/a
29	BCLAF1	chr18:13726277-13727042	GM12878	blood:	n/a	chr18:13726339-13726352 chr18:13726654-13726663 chr18:13726349-13726362 chr18:13726380-13726388 chr18:13726289-13726302 chr18:13726348-13726357 chr18:13726594-13726603 chr18:13726924-13726932 chr18:13726345-13726354
30	BHLHE40	chr18:13726500-13726745	A549	lung:	n/a	n/a
31	BHLHE40	chr18:13727115-13727332	GM12878	blood:	n/a	n/a
32	BHLHE40	chr18:13726110-13727260	HepG2	liver:	n/a	chr18:13726339-13726355
33	BHLHE40	chr18:13726172-13727019	K562	blood:	n/a	chr18:13726339-13726355
34	BHLHE40	chr18:13726244-13726903	GM12878	blood:	n/a	chr18:13726339-13726355
35	BRCA1	chr18:13726090-13726996	HepG2	liver:	n/a	n/a
36	BRCA1	chr18:13756438-13756457	HepG2	liver:	n/a	n/a
37	BRCA1	chr18:13726457-13726760	GM12878	blood:	n/a	n/a
38	BRCA1	chr18:13726139-13726185	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr18:13726474-13726821	H1-hESC	embryonic stem cell:	n/a	n/a
40	BRCA1	chr18:13726421-13726868	Hela-S3	cervix:	n/a	n/a
41	CBX3	chr18:13726407-13726901	K562	blood:	n/a	n/a
42	CBX3	chr18:13703843-13704301	HCT-116	colon:	n/a	n/a
43	CCNT2	chr18:13726122-13727132	K562	blood:	n/a	n/a
44	CEBPB	chr18:13726384-13727248	HepG2	liver:	n/a	n/a
45	CEBPB	chr18:13730166-13730366	K562	blood:	n/a	n/a
46	CEBPB	chr18:13711686-13711971	HepG2	liver:	n/a	chr18:13711791-13711802
47	CEBPB	chr18:13710411-13710844	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr18:13759057-13759357	IMR90	lung:	n/a	n/a
49	CEBPB	chr18:13706547-13706851	HepG2	liver:	n/a	chr18:13706704-13706715
50	CEBPB	chr18:13706640-13706854	Hela-S3	cervix:	n/a	chr18:13706704-13706715

(count:1223 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:13756072-13756122	SK-N-SH_RA	brain:	n/a
2	chr18:13726864-13726914	AG09319	gingival:	n/a
3	chr18:13725980-13726030	HCPEpiC	choroid plexus:	n/a
4	chr18:13756072-13756122	SK-N-SH_RA	brain:	n/a
5	chr18:13726864-13726914	AG09319	gingival:	n/a
6	chr18:13725980-13726030	HCPEpiC	choroid plexus:	n/a
7	chr18:13681026-13681076	GM19239	blood:	n/a
8	chr18:13726491-13726541	ovcar-3	ovarian:	n/a
9	chr18:13730665-13730715	HepG2	liver:	n/a
10	chr18:13722236-13722286	ProgFib	skin:	n/a
11	chr18:13763868-13763918	SKMC	muscle:	n/a
12	chr18:13726609-13726659	BJ	skin:	n/a
13	chr18:13726504-13726554	HNPCEpiC	eye:	n/a
14	chr18:13730665-13730715	HRE	kidney:	n/a
15	chr18:13726612-13726662	HepG2	liver:	n/a
16	chr18:13726506-13726556	SK-N-SH	brain:	n/a
17	chr18:13763868-13763918	ovcar-3	ovarian:	n/a
18	chr18:13726491-13726541	HEEpiC	esophagus:	n/a
19	chr18:13727230-13727280	SAEC	small airway:	n/a
20	chr18:13726491-13726541	SAEC	small airway:	n/a
21	chr18:13722236-13722286	AG04450	lung:	fetal
22	chr18:13730665-13730715	BE2_C	brain:	n/a
23	chr18:13725923-13725973	CMK	blood:	n/a
24	chr18:13725923-13725973	SK-N-SH	brain:	n/a
25	chr18:13727230-13727280	MCF-7	breast:	n/a
26	chr18:13726609-13726659	HRPEpiC	eye:	n/a
27	chr18:13726614-13726664	PANC-1	pancreas:	n/a
28	chr18:13763868-13763918	HNPCEpiC	eye:	n/a
29	chr18:13726497-13726547	PANC-1	pancreas:	n/a
30	chr18:13725923-13725973	SAEC	small airway:	n/a
31	chr18:13763868-13763918	SK-N-SH_RA	brain:	n/a
32	chr18:13725980-13726030	HRE	kidney:	n/a
33	chr18:13726614-13726664	GM12891	blood:	n/a
34	chr18:13763868-13763918	NH-A	brain:	n/a
35	chr18:13763868-13763918	PANC-1	pancreas:	n/a
36	chr18:13722236-13722286	IMR90	lung:	fetal
37	chr18:13727230-13727280	NH-A	brain:	n/a
38	chr18:13726614-13726664	Hepatocyte	liver:	n/a
39	chr18:13727230-13727280	GM06990	blood:	n/a
40	chr18:13763868-13763918	GM19239	blood:	n/a
41	chr18:13726497-13726547	AoSMC	blood vessel:	n/a
42	chr18:13726609-13726659	HEEpiC	esophagus:	n/a
43	chr18:13726491-13726541	HL-60	blood:	n/a
44	chr18:13756072-13756122	LNCaP	prostate:	n/a
45	chr18:13726504-13726554	NT2-D1	testis:	n/a
46	chr18:13681026-13681076	GM12891	blood:	n/a
47	chr18:13763868-13763918	ProgFib	skin:	n/a
48	chr18:13681026-13681076	RPTEC	kidney:	n/a
49	chr18:13726614-13726664	RPTEC	kidney:	n/a
50	chr18:13681026-13681076	HCF	heart:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr18:13722569..13728492-chr18:13728634..13733116,9	MCF-7	breast:
2	chr18:13710315..13714754-chr18:13718720..13723608,5	K562	blood:
3	chr18:13642263..13643971-chr18:13681320..13683879,2	K562	blood:
4	chr18:13742512..13744112-chr18:13750806..13753626,2	K562	blood:
5	chr18:13683098..13685254-chr18:13704320..13707298,2	K562	blood:
6	chr18:13755850..13757595-chr18:13759926..13762270,2	K562	blood:
7	chr18:13755826..13757836-chr18:13758500..13760869,2	MCF-7	breast:
8	chr18:13715573..13717316-chr18:13717978..13720268,2	MCF-7	breast:
9	chr18:13720818..13722709-chr18:13799190..13801067,2	MCF-7	breast:
10	chr18:13725660..13728261-chr18:13738636..13741621,2	K562	blood:
11	chr18:13713084..13715333-chr18:13723034..13724607,2	MCF-7	breast:
12	chr18:13725430..13729795-chr18:13738582..13741582,4	K562	blood:
13	chr18:13715573..13717316-chr18:13717978..13720268,2	MCF-7	breast:
14	chr18:13681432..13683538-chr18:13725267..13726820,2	MCF-7	breast:
15	chr18:13716302..13723768-chr18:13725017..13728135,7	MCF-7	breast:
16	chr18:13724492..13727369-chr18:13747129..13750067,3	K562	blood:
17	chr18:13747772..13749329-chr18:13755205..13757810,2	MCF-7	breast:
18	chr18:13742512..13744112-chr18:13750806..13753626,2	K562	blood:
19	chr18:13610222..13612819-chr18:13727330..13729411,2	MCF-7	breast:
20	chr18:13710315..13716033-chr18:13720055..13723608,8	K562	blood:
21	chr18:13717643..13720935-chr18:13721166..13724175,3	MCF-7	breast:
22	chr18:13724492..13727605-chr18:13746587..13748731,3	K562	blood:
23	chr18:13722569..13728492-chr18:13728634..13733116,9	MCF-7	breast:
24	chr18:13712758..13714918-chr18:13720338..13723114,2	MCF-7	breast:
25	chr18:13725100..13728801-chr18:13734439..13738381,8	K562	blood:
26	chr18:13725790..13728214-chr18:13734696..13736962,3	MCF-7	breast:
27	chr18:13743396..13745794-chr18:13773191..13775354,2	K562	blood:
28	chr18:13725100..13728481-chr18:13730872..13738381,7	K562	blood:
29	chr18:13755826..13757836-chr18:13758500..13760869,2	MCF-7	breast:
30	chr18:13735265..13737006-chr18:13738562..13740238,2	K562	blood:
31	chr18:13704783..13712220-chr18:13714006..13719261,7	K562	blood:
32	chr18:13715619..13722211-chr18:13722577..13727498,9	MCF-7	breast:
33	chr18:13732163..13734162-chr18:13738968..13741856,2	K562	blood:
34	chr18:13710315..13714754-chr18:13718720..13723608,5	K562	blood:
35	chr18:13541073..13543753-chr18:13725034..13728417,3	MCF-7	breast:
36	chr18:13709705..13711353-chr18:13726248..13728198,2	MCF-7	breast:
37	chr18:12882667..12884316-chr18:13724618..13726583,2	K562	blood:
38	chr18:13717643..13720935-chr18:13721166..13724175,3	MCF-7	breast:
39	chr18:13540374..13544453-chr18:13725222..13728165,6	MCF-7	breast:
40	chr18:13746385..13748103-chr18:13750449..13752681,2	K562	blood:
41	chr18:13670100..13673057-chr18:13723212..13725703,2	MCF-7	breast:
42	chr18:13694559..13697353-chr18:13725045..13726562,2	K562	blood:
43	chr18:13704713..13706610-chr18:13706839..13709049,2	K562	blood:
44	chr18:13746385..13748103-chr18:13750449..13752681,2	K562	blood:
45	chr18:13755850..13757595-chr18:13759926..13762270,2	K562	blood:
46	chr18:13704713..13706610-chr18:13706839..13709049,2	K562	blood:
47	chr18:13725100..13728481-chr18:13730872..13738381,7	K562	blood:
48	chr18:13725660..13728261-chr18:13738636..13741621,2	K562	blood:
49	chr18:13747772..13749329-chr18:13755205..13757810,2	MCF-7	breast:
50	chr18:13701883..13704880-chr18:13722633..13724467,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MC5R-4	chr18:13754113-13754146	NONHSAT058462
2	lnc-MC5R-2	chr18:13762300-13762436	NONHSAT058464
3	lnc-MC5R-4	chr18:13726704-13726728	NONHSAT058462
4	lnc-MC5R-4	chr18:13759941-13760207	NONHSAT058462
5	lnc-MC5R-2	chr18:13764111-13764554	NONHSAT058464
6	lnc-MC2R-3	chr18:13715099-13715367	NONHSAT058461

No data

(count:14 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RNMT	hsa-miR-30a-5p	chr18:13760318-13760325
2	RNMT	hsa-let-7b-5p	chr18:13764319-13764340
3	RNMT	hsa-miR-103a-3p	chr18:13760093-13760099
4	RNMT	hsa-let-7e-5p	chr18:13762971-13762978
5	RNMT	hsa-miR-103a-3p	chr18:13760542-13760563
6	RNMT	hsa-let-7e-5p	chr18:13764320-13764340
7	RNMT	hsa-let-7b-5p	chr18:13762971-13762978
8	RNMT	hsa-miR-1	chr18:13763210-13763231
9	RNMT	hsa-miR-16-5p	chr18:13763147-13763168
10	RNMT	hsa-let-7b-5p	chr18:13762957-13762978
11	RNMT	hsa-miR-206	chr18:13763210-13763231
12	RNMT	hsa-let-7e-5p	chr18:13762958-13762978
13	RNMT	hsa-miR-103a-3p	chr18:13760076-13760100
14	RNMT	hsa-miR-320a	chr18:13741664-13741683

Variant related genes	Relation type
RN7SL362P	TF binding region
FAM210A	TF binding region
RNMT	TF binding region
RN7SL362P	CpG island
FAM210A	CpG island
RNMT	CpG island
ENSG00000082153	chromatin interactions
ENSG00000177150	chromatin interactions
ENSG00000101654	chromatin interactions
ENSG00000242707	chromatin interactions
ENSG00000233223	chromatin interactions
ENSG00000168675	chromatin interactions
ENSG00000129255	chromatin interactions
ENSG00000263527	chromatin interactions
ENSG00000175354	chromatin interactions

Extended variants
information (count: 4201 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:4201 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138911419	chr18:13671442-13671443	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1787890	chr18:13671473-13671474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560471509	chr18:13671475-13671476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578187436	chr18:13671496-13671497	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548916468	chr18:13671499-13671500	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140660892	chr18:13671544-13671545	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542192331	chr18:13671580-13671581	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185179322	chr18:13671585-13671586	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570943550	chr18:13671591-13671592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189602700	chr18:13671603-13671604	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182579736	chr18:13671620-13671621	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573202481	chr18:13671633-13671634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560803884	chr18:13671647-13671648	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534359968	chr18:13671674-13671675	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372665969	chr18:13671685-13671686	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77822706	chr18:13671708-13671709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs80022661	chr18:13671710-13671711	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185295401	chr18:13671732-13671733	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574072884	chr18:13671742-13671743	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544416356	chr18:13671752-13671753	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563017268	chr18:13671753-13671754	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191580000	chr18:13671765-13671766	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545425053	chr18:13671781-13671782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560449790	chr18:13671805-13671806	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367724036	chr18:13671819-13671820	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369994519	chr18:13671824-13671825	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527625592	chr18:13671911-13671912	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77286877	chr18:13671918-13671919	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148120476	chr18:13671940-13671941	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2847146	chr18:13671947-13671948	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35591829	chr18:13671957-13671958	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141883375	chr18:13671964-13671965	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377498358	chr18:13671976-13671977	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369611940	chr18:13671977-13671978	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183840049	chr18:13672057-13672058	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76578337	chr18:13672065-13672066	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549576046	chr18:13672100-13672101	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144724362	chr18:13672114-13672115	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188331677	chr18:13672153-13672154	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546996765	chr18:13672189-13672190	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138594365	chr18:13672242-13672243	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540612656	chr18:13672351-13672352	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555915397	chr18:13672374-13672375	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116040882	chr18:13672407-13672408	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371096984	chr18:13672421-13672422	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375661816	chr18:13672498-13672499	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538456233	chr18:13672510-13672511	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559521076	chr18:13672555-13672556	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193289714	chr18:13672565-13672566	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578152450	chr18:13672574-13672575	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:2454 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13645600-13700200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr18:13645800-13682600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr18:13646000-13673600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr18:13648200-13680800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr18:13654200-13676600	Weak transcription	HMEC	breast
6	chr18:13654400-13688400	Weak transcription	Pancreas	Pancrea
7	chr18:13655600-13672800	Weak transcription	Fetal Brain Male	brain
8	chr18:13658600-13676800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:13658600-13676800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:13658600-13688800	Weak transcription	Esophagus	oesophagus
11	chr18:13660800-13682800	Weak transcription	NH-A	brain
12	chr18:13661000-13678600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr18:13661000-13678600	Weak transcription	HSMMtube	muscle
14	chr18:13661400-13676600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:13661400-13678200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr18:13661400-13678200	Weak transcription	Psoas Muscle	Psoas
17	chr18:13661600-13681600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr18:13662200-13678400	Weak transcription	Brain Hippocampus Middle	brain
19	chr18:13662200-13688200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:13663600-13671800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:13664000-13682200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr18:13664200-13676600	Weak transcription	Placenta	Placenta
23	chr18:13664600-13672200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:13664600-13681600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr18:13664800-13671600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:13664800-13672000	Strong transcription	Primary T cells from cord blood	blood
27	chr18:13664800-13683400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr18:13665000-13672800	Weak transcription	Adipose Nuclei	Adipose
29	chr18:13665200-13671800	Weak transcription	NHEK	skin
30	chr18:13665400-13673200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr18:13665400-13676400	Weak transcription	Fetal Intestine Small	intestine
32	chr18:13665600-13678800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr18:13665600-13688600	Weak transcription	NHLF	lung
34	chr18:13666400-13671800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr18:13666600-13683600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr18:13666800-13676600	Weak transcription	NHDF-Ad	bronchial
37	chr18:13666800-13684600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr18:13666800-13687600	Weak transcription	Right Ventricle	heart
39	chr18:13666800-13700200	Weak transcription	A549	lung
40	chr18:13667000-13672400	Weak transcription	HUVEC	blood vessel
41	chr18:13667000-13688200	Weak transcription	Osteobl	bone
42	chr18:13667200-13689200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr18:13667200-13694800	Weak transcription	Hela-S3	cervix
44	chr18:13667400-13672400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr18:13667400-13676800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr18:13667600-13681000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr18:13667800-13671600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr18:13667800-13672000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr18:13667800-13687200	Weak transcription	Ovary	ovary
50	chr18:13667800-13688600	Weak transcription	Primary T cells fromperipheralblood	blood

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