Variant report

Variant	nsv510575
Chromosome Location	chr12:120303163-120437490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2233)
CpG islands
(count:1714)
Chromatin interactive
region (count:99)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2233 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:120378632-120379155	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:120426946-120426970	K562	blood:	n/a	n/a
3	ARID3A	chr12:120339836-120340277	K562	blood:	n/a	n/a
4	ARID3A	chr12:120436842-120437081	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:120426272-120426439	K562	blood:	n/a	n/a
6	ARID3A	chr12:120375926-120376099	K562	blood:	n/a	n/a
7	ARID3A	chr12:120315258-120315442	K562	blood:	n/a	n/a
8	ATF1	chr12:120332155-120332188	K562	blood:	n/a	n/a
9	ATF1	chr12:120315072-120315468	K562	blood:	n/a	n/a
10	ATF1	chr12:120372736-120372814	K562	blood:	n/a	n/a
11	ATF1	chr12:120339862-120340244	K562	blood:	n/a	n/a
12	ATF1	chr12:120345952-120346114	K562	blood:	n/a	n/a
13	ATF2	chr12:120339831-120340186	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF3	chr12:120378664-120379412	A549	lung:	n/a	n/a
15	ATF3	chr12:120378609-120379440	A549	lung:	n/a	n/a
16	BACH1	chr12:120393976-120394069	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr12:120427640-120427818	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr12:120426133-120427103	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr12:120426289-120426464	K562	blood:	n/a	n/a
20	BATF	chr12:120363172-120363430	GM12878	blood:	n/a	chr12:120363270-120363281 chr12:120363251-120363262
21	BATF	chr12:120428278-120428463	GM12878	blood:	n/a	n/a
22	BCL3	chr12:120339841-120340170	GM12878	blood:	n/a	chr12:120340045-120340058
23	BCL3	chr12:120378622-120379141	A549	lung:	n/a	n/a
24	BCL3	chr12:120339757-120340322	A549	lung:	n/a	chr12:120340045-120340058
25	BCL3	chr12:120378604-120379161	A549	lung:	n/a	n/a
26	BCL3	chr12:120339755-120340316	A549	lung:	n/a	chr12:120340045-120340058
27	BCLAF1	chr12:120426645-120426999	GM12878	blood:	n/a	chr12:120426812-120426825 chr12:120426755-120426768 chr12:120426814-120426827
28	BHLHE40	chr12:120339887-120340188	K562	blood:	n/a	n/a
29	BHLHE40	chr12:120372597-120372759	K562	blood:	n/a	n/a
30	BHLHE40	chr12:120307813-120307860	K562	blood:	n/a	n/a
31	BHLHE40	chr12:120375994-120376094	K562	blood:	n/a	n/a
32	BHLHE40	chr12:120426388-120427256	K562	blood:	n/a	chr12:120426819-120426835 chr12:120426595-120426611 chr12:120426812-120426828 chr12:120426992-120427008 chr12:120426807-120426823
33	BHLHE40	chr12:120426527-120427257	GM12878	blood:	n/a	chr12:120426819-120426835 chr12:120426595-120426611 chr12:120426812-120426828 chr12:120426992-120427008 chr12:120426807-120426823
34	BHLHE40	chr12:120315152-120315534	K562	blood:	n/a	n/a
35	BHLHE40	chr12:120427649-120427835	GM12878	blood:	n/a	n/a
36	BHLHE40	chr12:120375919-120376174	GM12878	blood:	n/a	n/a
37	BRCA1	chr12:120315408-120315575	GM12878	blood:	n/a	n/a
38	BRCA1	chr12:120314755-120314822	HepG2	liver:	n/a	n/a
39	BRCA1	chr12:120339806-120340206	Hela-S3	cervix:	n/a	n/a
40	BRCA1	chr12:120314495-120314498	GM12878	blood:	n/a	n/a
41	BRCA1	chr12:120426757-120426942	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr12:120315127-120315548	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr12:120315136-120315142	GM12878	blood:	n/a	n/a
44	CBX3	chr12:120378487-120379114	HCT-116	colon:	n/a	n/a
45	CBX3	chr12:120378624-120379099	HCT-116	colon:	n/a	n/a
46	CBX3	chr12:120315052-120315639	K562	blood:	n/a	n/a
47	CBX3	chr12:120394885-120395412	HCT-116	colon:	n/a	n/a
48	CBX3	chr12:120427610-120427871	K562	blood:	n/a	n/a
49	CCNT2	chr12:120427574-120427848	K562	blood:	n/a	n/a
50	CCNT2	chr12:120426485-120427334	K562	blood:	n/a	chr12:120426959-120426968 chr12:120426571-120426580

(count:1714 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120317798-120317848	NH-A	brain:	n/a
2	chr12:120426550-120426600	HAEpiC	amniotic membrane:	n/a
3	chr12:120426550-120426600	ovcar-3	ovarian:	n/a
4	chr12:120426618-120426668	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:120311375-120311425	MCF10A-Er-Src	breast:	n/a
6	chr12:120426550-120426600	Jurkat	blood:	n/a
7	chr12:120317798-120317848	NH-A	brain:	n/a
8	chr12:120426550-120426600	HAEpiC	amniotic membrane:	n/a
9	chr12:120426550-120426600	ovcar-3	ovarian:	n/a
10	chr12:120426618-120426668	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:120311375-120311425	MCF10A-Er-Src	breast:	n/a
12	chr12:120426550-120426600	Jurkat	blood:	n/a
13	chr12:120317798-120317848	GM12892	blood:	n/a
14	chr12:120428028-120428078	U87	brain:	n/a
15	chr12:120315133-120315183	H1-hESC	embryonic stem cell:	embryo
16	chr12:120311375-120311425	HEK293	kidney:	embryo
17	chr12:120426784-120426834	HRCEpiC	kidney:	n/a
18	chr12:120426529-120426579	U87	brain:	n/a
19	chr12:120426618-120426668	HUVEC	blood vessel:	n/a
20	chr12:120428065-120428115	GM06990	blood:	n/a
21	chr12:120315422-120315472	HCF	heart:	n/a
22	chr12:120427178-120427228	AG04450	lung:	fetal
23	chr12:120428028-120428078	NHDF-neo	bronchial:	n/a
24	chr12:120426784-120426834	GM06990	blood:	n/a
25	chr12:120315129-120315179	NHDF-neo	bronchial:	n/a
26	chr12:120315669-120315719	HEK293	kidney:	embryo
27	chr12:120427182-120427232	ovcar-3	ovarian:	n/a
28	chr12:120427178-120427228	PFSK-1	brain:	n/a
29	chr12:120315129-120315179	HUVEC	blood vessel:	n/a
30	chr12:120315283-120315333	BE2_C	brain:	n/a
31	chr12:120315368-120315418	GM19239	blood:	n/a
32	chr12:120315129-120315179	HCM	heart:	n/a
33	chr12:120313949-120313999	GM06990	blood:	n/a
34	chr12:120315422-120315472	HL-60	blood:	n/a
35	chr12:120426529-120426579	AG04449	skin:	fetal
36	chr12:120426618-120426668	CMK	blood:	n/a
37	chr12:120315422-120315472	GM12878	blood:	n/a
38	chr12:120315422-120315472	GM06990	blood:	n/a
39	chr12:120428313-120428363	NT2-D1	testis:	n/a
40	chr12:120315144-120315194	IMR90	lung:	fetal
41	chr12:120426550-120426600	H1-hESC	embryonic stem cell:	embryo
42	chr12:120427178-120427228	CMK	blood:	n/a
43	chr12:120315669-120315719	AG09319	gingival:	n/a
44	chr12:120315085-120315135	AG09309	skin:	n/a
45	chr12:120315669-120315719	NHBE	bronchial:	n/a
46	chr12:120427178-120427228	HRPEpiC	eye:	n/a
47	chr12:120428065-120428115	HRE	kidney:	n/a
48	chr12:120313949-120313999	AG09319	gingival:	n/a
49	chr12:120314898-120314948	Hela-S3	cervix:	n/a
50	chr12:120307689-120307739	RPTEC	kidney:	n/a

(count:99 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:120313729..120318058-chr12:120425281..120428238,3	K562	blood:
2	chr12:120410929..120415600-chr12:120416913..120420697,4	MCF-7	breast:
3	chr12:120313415..120316416-chr17:41464359..41467641,4	K562	blood:
4	chr12:120306038..120308979-chr12:120311898..120314369,2	MCF-7	breast:
5	chr12:120294026..120296847-chr12:120307965..120310392,2	MCF-7	breast:
6	chr12:120395843..120397395-chr12:120398275..120401201,2	MCF-7	breast:
7	chr12:120347765..120349996-chr12:120352909..120355244,2	MCF-7	breast:
8	chr12:120218749..120219300-chr12:120339736..120340392,2	MCF-7	breast:
9	chr12:120376864..120378472-chr12:120729322..120731288,2	MCF-7	breast:
10	chr12:120425977..120426934-chr12:120517209..120518213,3	MCF-7	breast:
11	chr12:120414941..120417051-chr12:120419035..120420939,2	MCF-7	breast:
12	chr12:120314676..120315263-chr13:27998496..27999030,2	NB4	blood:
13	chr12:120347489..120349545-chr12:120637491..120639908,2	MCF-7	breast:
14	chr12:120375794..120377491-chr12:120554770..120557327,2	MCF-7	breast:
15	chr12:120367405..120370394-chr12:120371016..120373201,2	K562	blood:
16	chr12:120367405..120370394-chr12:120371016..120373201,2	K562	blood:
17	chr12:120427745..120429727-chr12:120729725..120731576,2	MCF-7	breast:
18	chr12:120302511..120304719-chr12:120314276..120316054,2	MCF-7	breast:
19	chr12:120420153..120423656-chr12:120424541..120427660,4	MCF-7	breast:
20	chr12:120311757..120313490-chr12:120315922..120318216,2	K562	blood:
21	chr12:120429597..120431218-chr12:120438007..120440188,2	MCF-7	breast:
22	chr12:120426002..120427624-chr12:120517341..120518989,2	MCF-7	breast:
23	chr12:120339915..120340470-chr20:52195293..52195889,2	MCF-7	breast:
24	chr12:120425735..120427312-chr12:120553344..120556119,2	MCF-7	breast:
25	chr12:120378947..120381276-chr12:120381985..120383684,2	MCF-7	breast:
26	chr12:120378840..120380961-chr12:120385159..120388054,2	MCF-7	breast:
27	chr12:120331860..120334916-chr12:120338712..120341359,3	K562	blood:
28	chr12:120302350..120306271-chr12:120306775..120309464,5	K562	blood:
29	chr12:120298087..120299763-chr12:120301664..120303346,2	MCF-7	breast:
30	chr12:120419275..120421989-chr12:120429002..120431271,2	K562	blood:
31	chr12:120314625..120315526-chr14:55517585..55518582,2	Hela-S3	cervix:
32	chr12:120227935..120229478-chr12:120338440..120341071,2	K562	blood:
33	chr12:120313416..120316416-chr17:41464359..41467641,4	K562	blood:
34	chr12:120427220..120428828-chr12:120429667..120432120,2	MCF-7	breast:
35	chr12:120087186..120087732-chr12:120375949..120376907,2	K562	blood:
36	chr12:120419275..120421989-chr12:120429002..120431271,2	K562	blood:
37	chr12:120410929..120415600-chr12:120416913..120420697,4	MCF-7	breast:
38	chr12:120424652..120426403-chr12:120728776..120730834,2	MCF-7	breast:
39	chr12:120331860..120334916-chr12:120338712..120341359,3	K562	blood:
40	chr12:120302681..120304881-chr12:120306791..120311781,4	MCF-7	breast:
41	chr12:120271067..120273765-chr12:120347314..120349886,2	K562	blood:
42	chr12:120340057..120342640-chr12:120728214..120730004,2	K562	blood:
43	chr12:120413777..120415664-chr12:120421623..120425591,4	MCF-7	breast:
44	chr12:120332998..120334916-chr12:120338712..120340934,2	K562	blood:
45	chr12:120432888..120433671-chr12:120524512..120525195,2	MCF-7	breast:
46	chr12:120132592..120133485-chr12:120339505..120340183,2	MCF-7	breast:
47	chr12:120311757..120313490-chr12:120315922..120318216,2	K562	blood:
48	chr12:120424699..120427677-chr12:120728453..120732318,6	K562	blood:
49	chr12:120430661..120432265-chr12:120435208..120438105,2	K562	blood:
50	chr12:120424138..120428272-chr12:120728453..120731316,5	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC64-3	chr12:120351754-120351991	expRegAs_chr12_11307_+
2	lnc-CCDC64-2	chr12:120412822-120412950	NONHSAT031098
3	lnc-CCDC64-2	chr12:120377270-120377404	NONHSAT031098

No data

Variant related genes	Relation type
RPL35AP30	TF binding region
CCDC64	TF binding region
CIT	TF binding region
RPL35AP30	CpG island
CCDC64	CpG island
CIT	CpG island
ENSG00000122034	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000176915	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000260035	chromatin interactions
ENSG00000138606	chromatin interactions
ENSG00000267549	chromatin interactions
ENSG00000131848	chromatin interactions
ENSG00000168175	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000226729	chromatin interactions
ENSG00000122966	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000135127	chromatin interactions
ENSG00000111737	chromatin interactions
ENSG00000255857	chromatin interactions

Extended variants
information (count: 3193 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3193 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536441363	chr12:120303186-120303187	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs184374440	chr12:120303233-120303234	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187217065	chr12:120303325-120303326	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117170377	chr12:120303381-120303382	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34356195	chr12:120303395-120303396	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142768524	chr12:120303440-120303441	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540727296	chr12:120303495-120303496	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568714499	chr12:120303546-120303547	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570678844	chr12:120303557-120303558	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561037109	chr12:120303564-120303565	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs1179085	chr12:120303627-120303628	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543230730	chr12:120303664-120303665	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11366591	chr12:120303669-120303670	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563193643	chr12:120303674-120303675	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78202366	chr12:120303687-120303688	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs61945772	chr12:120303689-120303690	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11064944	chr12:120303703-120303704	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146075937	chr12:120303724-120303725	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112437124	chr12:120303778-120303779	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs184751335	chr12:120303784-120303785	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs115787469	chr12:120303800-120303801	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189518932	chr12:120303801-120303802	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567725691	chr12:120303819-120303820	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs181000179	chr12:120303820-120303821	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549530434	chr12:120304020-120304021	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569633586	chr12:120304034-120304035	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183760956	chr12:120304036-120304037	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558137922	chr12:120304073-120304074	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571985223	chr12:120304123-120304124	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs142239176	chr12:120304212-120304213	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554404251	chr12:120304283-120304284	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539388012	chr12:120304376-120304377	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs571011665	chr12:120304379-120304380	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs151217116	chr12:120304386-120304387	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs11615663	chr12:120304433-120304434	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs539950965	chr12:120304512-120304513	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563025723	chr12:120304537-120304538	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs189617159	chr12:120304550-120304551	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545756860	chr12:120304595-120304596	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200470436	chr12:120304614-120304615	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181793314	chr12:120304620-120304621	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs56218289	chr12:120304623-120304624	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs527711710	chr12:120304624-120304625	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547753211	chr12:120304675-120304676	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs34666177	chr12:120304704-120304705	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186104090	chr12:120304780-120304781	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530106652	chr12:120304941-120304942	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190521969	chr12:120304984-120304985	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569469091	chr12:120304997-120304998	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139159900	chr12:120305022-120305023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1493 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:120254800-120314600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120256600-120304000	Weak transcription	Fetal Heart	heart
4	chr12:120259200-120311800	Strong transcription	Dnd41	blood
5	chr12:120270400-120314200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:120272000-120303600	Weak transcription	Fetal Lung	lung
7	chr12:120272200-120306800	Weak transcription	HSMM	muscle
8	chr12:120273200-120309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:120274800-120306200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:120276000-120307000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:120277000-120307200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:120277000-120314400	Weak transcription	Spleen	Spleen
13	chr12:120277200-120314600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:120277600-120303800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:120278400-120313800	Weak transcription	Brain Germinal Matrix	brain
16	chr12:120278600-120313800	Weak transcription	Fetal Brain Female	brain
17	chr12:120279600-120303800	Weak transcription	Fetal Intestine Large	intestine
18	chr12:120279800-120314200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:120279800-120314400	Weak transcription	Primary B cells from cord blood	blood
20	chr12:120280200-120304400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:120281200-120304400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:120281400-120306400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:120286000-120314400	Weak transcription	Placenta	Placenta
24	chr12:120286200-120305600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:120286400-120303600	Weak transcription	NH-A	brain
26	chr12:120286600-120307000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:120289400-120305200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:120289400-120305600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:120289400-120307600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:120289800-120304600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:120290000-120313800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:120290400-120303800	Weak transcription	HMEC	breast
33	chr12:120293400-120313600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:120293600-120313600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:120294800-120304000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:120294800-120314200	Weak transcription	Primary T cells from cord blood	blood
37	chr12:120295200-120314200	Weak transcription	Fetal Kidney	kidney
38	chr12:120295600-120303800	Weak transcription	HUVEC	blood vessel
39	chr12:120295600-120305200	Weak transcription	HepG2	liver
40	chr12:120296000-120304200	Weak transcription	NHLF	lung
41	chr12:120296000-120310400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:120296200-120303800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:120296200-120303800	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:120297400-120312200	Strong transcription	Fetal Stomach	stomach
45	chr12:120299200-120313400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:120299400-120312600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:120299400-120313600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:120299800-120303800	Weak transcription	K562	blood
49	chr12:120300800-120311400	Strong transcription	Thymus	Thymus
50	chr12:120300800-120312400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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