Variant report

Variant	nsv537841
Chromosome Location	chr5:104093971-104644095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1225)
CpG islands
(count:427)
Chromatin interactive
region (count:83)
LncRNA
region (count:34)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1225 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:104255114-104255149	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:104369169-104369636	K562	blood:	n/a	n/a
3	ARID3A	chr5:104574137-104574841	K562	blood:	n/a	n/a
4	ARID3A	chr5:104599139-104599705	K562	blood:	n/a	n/a
5	ARID3A	chr5:104565880-104566023	K562	blood:	n/a	n/a
6	ATF1	chr5:104475478-104475496	K562	blood:	n/a	n/a
7	ATF1	chr5:104599299-104599581	K562	blood:	n/a	n/a
8	ATF1	chr5:104566225-104566645	K562	blood:	n/a	n/a
9	ATF1	chr5:104373680-104373755	K562	blood:	n/a	n/a
10	ATF1	chr5:104370024-104370214	K562	blood:	n/a	n/a
11	BACH1	chr5:104541248-104541265	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr5:104223199-104223207	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL11A	chr5:104502865-104503067	H1-hESC	embryonic stem cell:	n/a	n/a
14	BHLHE40	chr5:104369418-104369675	K562	blood:	n/a	n/a
15	BRCA1	chr5:104325896-104325918	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr5:104393511-104393580	GM12878	blood:	n/a	n/a
17	BRCA1	chr5:104488401-104488414	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr5:104317800-104317805	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr5:104246667-104246983	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr5:104428357-104428592	K562	blood:	n/a	n/a
21	CBX3	chr5:104370642-104370939	K562	blood:	n/a	n/a
22	CBX3	chr5:104393083-104393385	K562	blood:	n/a	n/a
23	CBX3	chr5:104393078-104393434	K562	blood:	n/a	n/a
24	CCNT2	chr5:104306891-104307038	K562	blood:	n/a	n/a
25	CCNT2	chr5:104599218-104599525	K562	blood:	n/a	n/a
26	CCNT2	chr5:104370115-104370461	K562	blood:	n/a	n/a
27	CCNT2	chr5:104369421-104369754	K562	blood:	n/a	chr5:104369561-104369581
28	CCNT2	chr5:104566220-104566624	K562	blood:	n/a	n/a
29	CEBPB	chr5:104102501-104102787	A549	lung:	n/a	chr5:104102656-104102667
30	CEBPB	chr5:104136136-104136548	A549	lung:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
31	CEBPB	chr5:104195078-104195490	Hela-S3	cervix:	n/a	chr5:104195252-104195263
32	CEBPB	chr5:104373830-104373968	HepG2	liver:	n/a	n/a
33	CEBPB	chr5:104278321-104278989	MCF-7	breast:	n/a	n/a
34	CEBPB	chr5:104195099-104195433	H1-hESC	embryonic stem cell:	n/a	chr5:104195252-104195263
35	CEBPB	chr5:104613163-104613370	HepG2	liver:	n/a	n/a
36	CEBPB	chr5:104136032-104136689	MCF-7	breast:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
37	CEBPB	chr5:104423410-104423746	IMR90	lung:	n/a	chr5:104423566-104423577
38	CEBPB	chr5:104136181-104136567	HepG2	liver:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
39	CEBPB	chr5:104288117-104288374	HepG2	liver:	n/a	chr5:104288258-104288271 chr5:104288258-104288269
40	CEBPB	chr5:104391872-104392206	HepG2	liver:	n/a	chr5:104392017-104392026 chr5:104392042-104392059 chr5:104392015-104392026 chr5:104392045-104392056
41	CEBPB	chr5:104575759-104576055	K562	blood:	n/a	chr5:104575897-104575908 chr5:104575896-104575907
42	CEBPB	chr5:104423448-104423672	K562	blood:	n/a	chr5:104423566-104423577
43	CEBPB	chr5:104195064-104195524	A549	lung:	n/a	chr5:104195252-104195263
44	CEBPB	chr5:104136224-104136540	IMR90	lung:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
45	CEBPB	chr5:104195098-104195441	HepG2	liver:	n/a	chr5:104195252-104195263
46	CEBPB	chr5:104475581-104475765	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr5:104273290-104273692	Hela-S3	cervix:	n/a	chr5:104273426-104273439 chr5:104273423-104273440
48	CEBPB	chr5:104177422-104177540	K562	blood:	n/a	n/a
49	CEBPB	chr5:104278381-104278967	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr5:104136190-104136565	H1-hESC	embryonic stem cell:	n/a	chr5:104136365-104136376 chr5:104136380-104136391

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:104434827-104434877	IMR90	lung:	fetal
2	chr5:104435062-104435112	PANC-1	pancreas:	n/a
3	chr5:104434864-104434914	GM12892	blood:	n/a
4	chr5:104434864-104434914	HMEC	breast:	n/a
5	chr5:104435062-104435112	HUVEC	blood vessel:	n/a
6	chr5:104434864-104434914	NHDF-neo	bronchial:	n/a
7	chr5:104434864-104434914	U87	brain:	n/a
8	chr5:104434864-104434914	HNPCEpiC	eye:	n/a
9	chr5:104434827-104434877	Hela-S3	cervix:	n/a
10	chr5:104265747-104265797	HEK293	kidney:	embryo
11	chr5:104435608-104435658	HMEC	breast:	n/a
12	chr5:104434864-104434914	HRPEpiC	eye:	n/a
13	chr5:104345171-104345221	CMK	blood:	n/a
14	chr5:104265747-104265797	HCT-116	colon:	n/a
15	chr5:104433849-104433899	GM12878	blood:	n/a
16	chr5:104435608-104435658	HEEpiC	esophagus:	n/a
17	chr5:104345171-104345221	SK-N-SH	brain:	n/a
18	chr5:104434864-104434914	HRCEpiC	kidney:	n/a
19	chr5:104434864-104434914	BE2_C	brain:	n/a
20	chr5:104434827-104434877	SK-N-MC	brain:	n/a
21	chr5:104434864-104434914	ECC-1	luminal epithelium:	n/a
22	chr5:104433849-104433899	HL-60	blood:	n/a
23	chr5:104435608-104435658	Jurkat	blood:	n/a
24	chr5:104434864-104434914	HEK293	kidney:	embryo
25	chr5:104434864-104434914	HUVEC	blood vessel:	n/a
26	chr5:104435062-104435112	HAEpiC	amniotic membrane:	n/a
27	chr5:104434827-104434877	PANC-1	pancreas:	n/a
28	chr5:104435062-104435112	HIPEpiC	eye:	n/a
29	chr5:104435062-104435112	BJ	skin:	n/a
30	chr5:104435062-104435112	MCF-7	breast:	n/a
31	chr5:104265747-104265797	IMR90	lung:	fetal
32	chr5:104435062-104435112	AG10803	skin:	n/a
33	chr5:104435062-104435112	NT2-D1	testis:	n/a
34	chr5:104345171-104345221	HCM	heart:	n/a
35	chr5:104433849-104433899	HMEC	breast:	n/a
36	chr5:104345171-104345221	AoSMC	blood vessel:	n/a
37	chr5:104265747-104265797	BJ	skin:	n/a
38	chr5:104434827-104434877	HCT-116	colon:	n/a
39	chr5:104433849-104433899	NH-A	brain:	n/a
40	chr5:104434864-104434914	AG09309	skin:	n/a
41	chr5:104434827-104434877	NHBE	bronchial:	n/a
42	chr5:104433849-104433899	HAEpiC	amniotic membrane:	n/a
43	chr5:104434827-104434877	SK-N-SH	brain:	n/a
44	chr5:104433849-104433899	BJ	skin:	n/a
45	chr5:104435062-104435112	SAEC	small airway:	n/a
46	chr5:104435062-104435112	GM12892	blood:	n/a
47	chr5:104434827-104434877	BE2_C	brain:	n/a
48	chr5:104434864-104434914	HAEpiC	amniotic membrane:	n/a
49	chr5:104435608-104435658	ovcar-3	ovarian:	n/a
50	chr5:104434864-104434914	PFSK-1	brain:	n/a

(count:83 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:104540117..104542340-chr5:104543485..104546477,2	MCF-7	breast:
2	chr5:104296966..104298915-chr5:104301513..104303519,2	K562	blood:
3	chr5:104277822..104279427-chr5:104300449..104302157,2	MCF-7	breast:
4	chr5:104369743..104372595-chr5:104912590..104914639,2	K562	blood:
5	chr5:104545961..104548123-chr5:104549429..104551527,2	K562	blood:
6	chr5:104226367..104227906-chr5:104228376..104230821,2	MCF-7	breast:
7	chr5:104302225..104304920-chr5:104306783..104309637,2	MCF-7	breast:
8	chr5:104443161..104444832-chr5:104444978..104447101,2	MCF-7	breast:
9	chr5:104545106..104548123-chr5:104549429..104551527,3	K562	blood:
10	chr5:104245189..104247786-chr5:104277262..104279951,2	MCF-7	breast:
11	chr5:104423554..104425423-chr5:104426738..104428780,3	K562	blood:
12	chr5:104482838..104485793-chr5:104489379..104492370,3	MCF-7	breast:
13	chr5:104248370..104250240-chr5:104261197..104262793,2	MCF-7	breast:
14	chr5:104271936..104274851-chr5:104276428..104278480,3	MCF-7	breast:
15	chr5:104512964..104515332-chr5:104570864..104572424,2	K562	blood:
16	chr5:104482838..104485793-chr5:104489379..104492370,3	MCF-7	breast:
17	chr5:104234931..104236476-chr5:104238248..104241105,2	MCF-7	breast:
18	chr5:104271936..104274851-chr5:104276428..104278480,3	MCF-7	breast:
19	chr12:23105697..23106553-chr5:104539343..104540254,2	MCF-7	breast:
20	chr5:104308244..104309781-chr5:104310392..104313289,2	K562	blood:
21	chr5:104370391..104373072-chr5:104374539..104377725,3	K562	blood:
22	chr5:104528561..104530726-chr5:104532311..104534213,2	K562	blood:
23	chr19:12903711..12905991-chr5:104578289..104580216,2	MCF-7	breast:
24	chr5:104239889..104241844-chr5:104241951..104244541,2	MCF-7	breast:
25	chr5:104567163..104569932-chr5:104572220..104574679,2	MCF-7	breast:
26	chr5:104308244..104309781-chr5:104310392..104313289,2	K562	blood:
27	chr5:104551002..104553954-chr5:104571477..104574357,2	MCF-7	breast:
28	chr5:104239889..104241844-chr5:104241951..104244541,2	MCF-7	breast:
29	chr5:104528561..104530726-chr5:104532311..104534213,2	K562	blood:
30	chr5:104270441..104272983-chr5:104273696..104275223,2	K562	blood:
31	chr5:104227529..104229773-chr5:104240979..104242491,2	MCF-7	breast:
32	chr5:104551002..104553954-chr5:104571477..104574357,2	MCF-7	breast:
33	chr5:104565194..104566957-chr5:104571048..104573999,2	K562	blood:
34	chr5:104248370..104250240-chr5:104261197..104262793,2	MCF-7	breast:
35	chr5:104091669..104093962-chr5:104097846..104099466,2	MCF-7	breast:
36	chr5:104582906..104584797-chr5:104601356..104603170,2	K562	blood:
37	chr5:104604624..104606834-chr5:104613480..104615859,2	K562	blood:
38	chr5:104227529..104229773-chr5:104240979..104242491,2	MCF-7	breast:
39	chr5:104542507..104545042-chr5:104552566..104554250,2	K562	blood:
40	chr5:104223049..104225474-chr5:104235768..104238593,2	MCF-7	breast:
41	chr5:104370391..104373072-chr5:104374539..104377725,3	K562	blood:
42	chr5:104545961..104548123-chr5:104549429..104551527,2	K562	blood:
43	chr5:104586940..104589611-chr5:104727738..104729575,2	K562	blood:
44	chr5:104277822..104279427-chr5:104300449..104302157,2	MCF-7	breast:
45	chr5:104438251..104441149-chr5:104441695..104444269,2	K562	blood:
46	chr17:57939158..57941470-chr5:104246724..104248724,2	MCF-7	breast:
47	chr5:104454743..104457659-chr5:104458109..104460411,2	MCF-7	breast:
48	chr5:104369671..104371200-chr5:104727235..104729208,2	K562	blood:
49	chr5:104582906..104584797-chr5:104601356..104603170,2	K562	blood:
50	chr5:104564496..104566595-chr5:104574532..104577348,2	K562	blood:

(count:34 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-5	chr5:104098981-104099084	NONHSAT103082
2	lnc-C5orf30-3	chr5:104109342-104109441	ENSG00000253776
3	lnc-C5orf30-2	chr5:104098977-104099084	XLOC_004497
4	lnc-NUDT12-5	chr5:104109314-104109485	ENSG00000251574
5	lnc-NUDT12-7	chr5:104582013-104582067	NONHSAT103097
6	lnc-NUDT12-5	chr5:104109434-104109524	NONHSAT103081
7	lnc-C5orf30-3	chr5:104135007-104135473	ENSG00000253776
8	lnc-C5orf30-8	chr5:104435174-104435799	NONHSAT103096
9	lnc-NUDT12-5	chr5:104109314-104109524	NONHSAT103088
10	lnc-NUDT12-5	chr5:104098932-104099084	ENSG00000251574
11	lnc-NUDT12-5	chr5:104109314-104109397	ENSG00000251574
12	lnc-C5orf30-8	chr5:104435175-104435799	NR_000039
13	lnc-NUDT12-7	chr5:104308988-104309359	ENSG00000253584
14	lnc-NUDT12-5	chr5:104109314-104109492	ENSG00000251574
15	lnc-NUDT12-5	chr5:104109314-104109524	NONHSAT103082
16	lnc-NUDT12-5	chr5:104098981-104099084	NONHSAT103081
17	lnc-NUDT12-5	chr5:104109434-104109523	ENSG00000251574
18	lnc-NUDT12-6	chr5:104222559-104222676	ENSG00000251574
19	lnc-NUDT12-7	chr5:104344562-104344612	ENSG00000253584
20	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
21	lnc-NUDT12-13	chr5:104118423-104118445	l_2988_chr5:104103131-104137422_testes
22	lnc-NUDT12-6	chr5:104246363-104246434	ENSG00000251574
23	lnc-NUDT12-7	chr5:104315392-104315477	ENSG00000253584
24	lnc-NUDT12-13	chr5:104137254-104137422	l_2988_chr5:104103131-104137422_testes
25	lnc-NUDT12-7	chr5:104581998-104582065	ENSG00000253584
26	lnc-NUDT12-13	chr5:104103132-104103235	l_2988_chr5:104103131-104137422_testes
27	lnc-NUDT12-7	chr5:104344562-104344618	ENSG00000253584
28	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
29	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
30	lnc-NUDT12-5	chr5:104109314-104109361	ENSG00000251574
31	lnc-NUDT12-6	chr5:104222559-104222676	ENSG00000251574
32	lnc-NUDT12-7	chr5:104311375-104311586	ENSG00000253584
33	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
34	lnc-NUDT12-7	chr5:104253193-104253599	ENSG00000253584

No data

Variant related genes	Relation type
ENSG00000253776	TF binding region
RNU6-334P	TF binding region
ENSG00000253584	TF binding region
ENSG00000251574	TF binding region
RAB9BP1	TF binding region
ENSG00000253776	CpG island
RNU6-334P	CpG island
ENSG00000253584	CpG island
ENSG00000251574	CpG island
RAB9BP1	CpG island
ENSG00000251574	chromatin interactions
CREB3L2	miRNA target sites

Extended variants
information (count: 6193 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:6193 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386690730	chr5:104094036-104094037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545077712	chr5:104094047-104094048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs324344	chr5:104094050-104094051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186814405	chr5:104094073-104094074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs161642	chr5:104094081-104094082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs112105068	chr5:104094148-104094149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144449214	chr5:104094152-104094153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148159113	chr5:104094159-104094160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113915199	chr5:104094185-104094186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138415215	chr5:104094186-104094187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142010006	chr5:104094205-104094206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538660831	chr5:104094217-104094218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552245533	chr5:104094269-104094270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569059026	chr5:104094299-104094300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181877048	chr5:104094351-104094352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538149086	chr5:104094440-104094441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6887049	chr5:104094453-104094454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs161781	chr5:104094462-104094463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs324343	chr5:104094519-104094520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577461769	chr5:104094619-104094620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs324342	chr5:104094626-104094627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545062222	chr5:104094703-104094704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200620129	chr5:104094741-104094742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397764633	chr5:104094751-104094752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186436264	chr5:104094778-104094779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12163964	chr5:104094782-104094783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs189672424	chr5:104094784-104094785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561496817	chr5:104094804-104094805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530250453	chr5:104094817-104094818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200787137	chr5:104094837-104094838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547235279	chr5:104094882-104094883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62361869	chr5:104094884-104094885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs532370867	chr5:104094887-104094888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552183758	chr5:104094921-104094922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568996226	chr5:104094922-104094923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs324341	chr5:104094925-104094926	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs182699064	chr5:104094968-104094969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567407786	chr5:104094992-104094993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140911453	chr5:104095042-104095043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144852316	chr5:104095058-104095059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186412172	chr5:104095071-104095072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538614560	chr5:104095090-104095091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565420912	chr5:104095106-104095107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558618115	chr5:104095121-104095122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114615397	chr5:104095129-104095130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139996990	chr5:104095148-104095149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112172874	chr5:104095159-104095160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149976377	chr5:104095161-104095162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574970515	chr5:104095200-104095201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191254216	chr5:104095204-104095205	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104091400-104095000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:104095000-104095800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:104112400-104113000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:104112600-104113000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:104124800-104125400	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr5:104124800-104125400	Enhancers	Rectal Smooth Muscle	rectum
7	chr5:104124800-104125600	Enhancers	Fetal Lung	lung
8	chr5:104124800-104126400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:104126400-104130000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:104127800-104129000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:104128400-104129800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:104128600-104129000	Enhancers	Fetal Intestine Small	intestine
13	chr5:104128600-104129000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr5:104128600-104129200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr5:104128600-104129400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:104128600-104129400	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr5:104128600-104130000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr5:104128600-104130200	Enhancers	Fetal Intestine Large	intestine
19	chr5:104128800-104129200	Enhancers	NH-A	brain
20	chr5:104129000-104129400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr5:104129000-104129400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:104129200-104129400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
23	chr5:104129200-104130000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr5:104130000-104130200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr5:104130000-104130200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr5:104130000-104132000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:104136200-104136400	ZNF genes & repeats	Aorta	Aorta
28	chr5:104137600-104138400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr5:104150800-104151200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr5:104151200-104154800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr5:104157200-104157800	Enhancers	Fetal Intestine Large	intestine
32	chr5:104157200-104159600	Enhancers	Fetal Intestine Small	intestine
33	chr5:104173200-104173400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:104173200-104173400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:104173200-104173400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:104173200-104173400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr5:104173200-104173400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:104173200-104173400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr5:104173400-104179600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:104174800-104176200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr5:104175000-104175800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:104175000-104176200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:104175000-104177000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr5:104175000-104180000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:104175200-104175600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr5:104175200-104175600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:104175200-104175800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:104175200-104176200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr5:104175400-104176200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr5:104175600-104178600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links