Variant report

Variant	nsv872574
Chromosome Location	chr1:180146385-180177266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:802)
CpG islands
(count:854)
Chromatin interactive
region (count:88)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:802 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:180148047-180148334	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:180150216-180150516	K562	blood:	n/a	n/a
3	ATF3	chr1:180147943-180148199	K562	blood:	n/a	n/a
4	BHLHE40	chr1:180147875-180148291	GM12878	blood:	n/a	n/a
5	BHLHE40	chr1:180148786-180148874	K562	blood:	n/a	n/a
6	BHLHE40	chr1:180147983-180148260	K562	blood:	n/a	n/a
7	BHLHE40	chr1:180163938-180164285	K562	blood:	n/a	n/a
8	BHLHE40	chr1:180157355-180158219	K562	blood:	n/a	n/a
9	BHLHE40	chr1:180157245-180157730	HepG2	liver:	n/a	n/a
10	BHLHE40	chr1:180150356-180150566	K562	blood:	n/a	n/a
11	BRCA1	chr1:180157382-180157663	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr1:180163932-180164282	K562	blood:	n/a	n/a
13	CCNT2	chr1:180165896-180166063	K562	blood:	n/a	n/a
14	CCNT2	chr1:180152002-180152161	K562	blood:	n/a	n/a
15	CEBPB	chr1:180162028-180162181	K562	blood:	n/a	n/a
16	CEBPB	chr1:180157372-180157602	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr1:180148008-180148283	K562	blood:	n/a	n/a
18	CHD1	chr1:180147864-180148497	IMR90	lung:	n/a	n/a
19	CHD2	chr1:180151277-180151355	HepG2	liver:	n/a	n/a
20	CHD2	chr1:180157402-180157711	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr1:180148033-180148317	K562	blood:	n/a	n/a
22	CHD2	chr1:180163925-180163956	K562	blood:	n/a	n/a
23	CHD2	chr1:180157347-180157621	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr1:180148080-180148230	HRE	kidney:	n/a	chr1:180148150-180148159 chr1:180148144-180148162
25	CTCF	chr1:180148100-180148250	AG10803	skin:	n/a	chr1:180148150-180148159 chr1:180148144-180148162
26	CTCF	chr1:180150260-180150410	HVMF	connective:	n/a	n/a
27	CTCF	chr1:180150208-180150516	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr1:180157460-180157610	BE2_C	brain:	n/a	chr1:180157495-180157511
29	CTCF	chr1:180148080-180148230	GM12871	blood:	n/a	chr1:180148150-180148159 chr1:180148144-180148162
30	CTCF	chr1:180160500-180160650	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr1:180148080-180148230	A549	lung:	n/a	chr1:180148150-180148159 chr1:180148144-180148162
32	CTCF	chr1:180148029-180148288	ProgFib	skin:	n/a	chr1:180148150-180148159 chr1:180148144-180148162 chr1:180148246-180148254
33	CTCF	chr1:180157400-180157550	GM12870	blood:	n/a	chr1:180157495-180157511
34	CTCF	chr1:180148042-180148286	GM20000	blood:	n/a	chr1:180148150-180148159 chr1:180148144-180148162 chr1:180148246-180148254
35	CTCF	chr1:180157420-180157570	HepG2	liver:	n/a	chr1:180157495-180157511
36	CTCF	chr1:180157310-180157810	HCT-116	colon:	n/a	chr1:180157389-180157397 chr1:180157495-180157511
37	CTCF	chr1:180150360-180150504	A549	lung:	n/a	n/a
38	CTCF	chr1:180157420-180157570	SAEC	small airway:	n/a	chr1:180157495-180157511
39	CTCF	chr1:180157400-180157550	GM12864	blood:	n/a	chr1:180157495-180157511
40	CTCF	chr1:180150140-180150718	HCT-116	colon:	n/a	n/a
41	CTCF	chr1:180150340-180150490	AG04449	skin:	n/a	n/a
42	CTCF	chr1:180157400-180157550	GM12875	blood:	n/a	chr1:180157495-180157511
43	CTCF	chr1:180150280-180150430	GM12878	blood:	n/a	n/a
44	CTCF	chr1:180148001-180148322	K562	blood:	n/a	chr1:180148150-180148159 chr1:180148144-180148162 chr1:180148246-180148254
45	CTCF	chr1:180150319-180150525	GM12878	blood:	n/a	n/a
46	CTCF	chr1:180149140-180149290	GM12873	blood:	n/a	n/a
47	CTCF	chr1:180157400-180157550	GM12878	blood:	n/a	chr1:180157495-180157511
48	CTCF	chr1:180148021-180148295	LNCaP	prostate:	n/a	chr1:180148150-180148159 chr1:180148144-180148162 chr1:180148246-180148254
49	CTCF	chr1:180157400-180157550	NB4	blood:	n/a	chr1:180157495-180157511
50	CTCF	chr1:180150340-180150490	HRE	kidney:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:180166190-180166240	IMR90	lung:	fetal
2	chr1:180167084-180167134	K562	blood:	n/a
3	chr1:180167084-180167134	T-47D	breast:	n/a
4	chr1:180161452-180161502	SK-N-SH_RA	brain:	n/a
5	chr1:180166674-180166724	LNCaP	prostate:	n/a
6	chr1:180166190-180166240	GM06990	blood:	n/a
7	chr1:180165936-180165986	Hepatocyte	liver:	n/a
8	chr1:180153485-180153535	GM19239	blood:	n/a
9	chr1:180170249-180170299	SKMC	muscle:	n/a
10	chr1:180165936-180165986	HRE	kidney:	n/a
11	chr1:180168167-180168217	ovcar-3	ovarian:	n/a
12	chr1:180167084-180167134	GM12891	blood:	n/a
13	chr1:180167084-180167134	A549	lung:	n/a
14	chr1:180166190-180166240	HRCEpiC	kidney:	n/a
15	chr1:180168109-180168159	PrEC	prostate:	n/a
16	chr1:180150424-180150474	HEEpiC	esophagus:	n/a
17	chr1:180165648-180165698	HCT-116	colon:	n/a
18	chr1:180168109-180168159	HL-60	blood:	n/a
19	chr1:180166674-180166724	HCPEpiC	choroid plexus:	n/a
20	chr1:180165648-180165698	GM06990	blood:	n/a
21	chr1:180167117-180167167	AG09309	skin:	n/a
22	chr1:180167084-180167134	HCM	heart:	n/a
23	chr1:180161452-180161502	U87	brain:	n/a
24	chr1:180165648-180165698	GM12891	blood:	n/a
25	chr1:180168167-180168217	AoSMC	blood vessel:	n/a
26	chr1:180148192-180148242	HRPEpiC	eye:	n/a
27	chr1:180168109-180168159	H1-hESC	embryonic stem cell:	embryo
28	chr1:180168109-180168159	NHBE	bronchial:	n/a
29	chr1:180167084-180167134	SKMC	muscle:	n/a
30	chr1:180148192-180148242	SAEC	small airway:	n/a
31	chr1:180161452-180161502	Jurkat	blood:	n/a
32	chr1:180168109-180168159	AG09309	skin:	n/a
33	chr1:180168167-180168217	MCF-7	breast:	n/a
34	chr1:180170249-180170299	HCM	heart:	n/a
35	chr1:180153485-180153535	AoSMC	blood vessel:	n/a
36	chr1:180170249-180170299	T-47D	breast:	n/a
37	chr1:180167084-180167134	BE2_C	brain:	n/a
38	chr1:180153485-180153535	HUVEC	blood vessel:	n/a
39	chr1:180161452-180161502	SKMC	muscle:	n/a
40	chr1:180166190-180166240	HCT-116	colon:	n/a
41	chr1:180153485-180153535	RPTEC	kidney:	n/a
42	chr1:180166674-180166724	HCM	heart:	n/a
43	chr1:180170249-180170299	H1-hESC	embryonic stem cell:	embryo
44	chr1:180150424-180150474	HMEC	breast:	n/a
45	chr1:180153485-180153535	IMR90	lung:	fetal
46	chr1:180167084-180167134	HRCEpiC	kidney:	n/a
47	chr1:180165648-180165698	SK-N-MC	brain:	n/a
48	chr1:180157401-180157451	GM19239	blood:	n/a
49	chr1:180161452-180161502	PrEC	prostate:	n/a
50	chr1:180161452-180161502	HCM	heart:	n/a

(count:88 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:180169524..180172441-chr1:180177261..180179017,2	K562	blood:
2	chr1:180160033..180161907-chr1:180449286..180451690,2	MCF-7	breast:
3	chr1:180150202..180151825-chr1:180157652..180159202,2	MCF-7	breast:
4	chr1:180176787..180178486-chr1:180178566..180180351,2	MCF-7	breast:
5	chr1:180168188..180170857-chr1:180191541..180193929,2	MCF-7	breast:
6	chr1:180165121..180168883-chr1:180170132..180173645,4	MCF-7	breast:
7	chr1:180135428..180138250-chr1:180150894..180153157,2	MCF-7	breast:
8	chr1:180163252..180165050-chr1:180165265..180167767,3	K562	blood:
9	chr1:179997743..179998695-chr1:180147682..180148528,2	MCF-7	breast:
10	chr1:180157851..180159409-chr1:180159735..180161240,2	K562	blood:
11	chr1:180151242..180153585-chr1:180154166..180155979,2	MCF-7	breast:
12	chr1:180161313..180163848-chr1:180192967..180194620,2	MCF-7	breast:
13	chr1:180157396..180157988-chr1:180200314..180201082,2	MCF-7	breast:
14	chr1:180170458..180172735-chr1:180177820..180180724,2	MCF-7	breast:
15	chr1:180169524..180172441-chr1:180177261..180179017,2	K562	blood:
16	chr1:180155464..180157247-chr1:180221856..180223365,2	K562	blood:
17	chr1:180152753..180155932-chr1:180156941..180161376,5	K562	blood:
18	chr1:180160617..180162181-chr1:180163324..180165275,2	K562	blood:
19	chr1:180169625..180171387-chr1:180199131..180202801,3	MCF-7	breast:
20	chr1:180157564..180158553-chr1:180385566..180386276,2	MCF-7	breast:
21	chr1:180155367..180159115-chr1:180198321..180200996,3	MCF-7	breast:
22	chr1:180123298..180125650-chr1:180161810..180164469,2	MCF-7	breast:
23	chr1:180147709..180148394-chr1:180157374..180157997,3	K562	blood:
24	chr1:180152753..180155932-chr1:180156941..180161376,5	K562	blood:
25	chr1:180157909..180159726-chr1:180159740..180161747,2	K562	blood:
26	chr1:180141348..180142981-chr1:180147285..180149900,2	K562	blood:
27	chr1:180156740..180157798-chr1:180384923..180385820,3	MCF-7	breast:
28	chr1:179785444..179788071-chr1:180162529..180164673,3	K562	blood:
29	chr1:180140473..180142026-chr1:180171007..180172965,2	K562	blood:
30	chr1:180176758..180178917-chr1:180204448..180206971,2	K562	blood:
31	chr1:180150579..180151151-chr1:180199152..180199958,2	MCF-7	breast:
32	chr1:180143979..180145920-chr1:180152234..180155000,2	MCF-7	breast:
33	chr1:180157990..180162959-chr1:180199986..180202950,5	MCF-7	breast:
34	chr1:179675217..179676117-chr1:180147747..180148637,4	K562	blood:
35	chr1:180168163..180169800-chr1:180187556..180189433,2	MCF-7	breast:
36	chr1:180159949..180162056-chr1:180168756..180171575,2	K562	blood:
37	chr1:180157037..180158401-chr1:180451224..180451939,3	K562	blood:
38	chr1:180160617..180162181-chr1:180163324..180165275,2	K562	blood:
39	chr1:180155164..180157473-chr1:180197827..180200176,2	MCF-7	breast:
40	chr1:180148066..180148643-chr1:180218157..180219119,2	K562	blood:
41	chr1:179845546..179848475-chr1:180147931..180149968,2	MCF-7	breast:
42	chr1:180167194..180169146-chr1:180469710..180471466,2	MCF-7	breast:
43	chr1:180143081..180144984-chr1:180146665..180148775,2	K562	blood:
44	chr1:180168358..180171024-chr1:180177173..180179017,2	K562	blood:
45	chr1:180168358..180171024-chr1:180177173..180179017,2	K562	blood:
46	chr1:179844647..179846808-chr1:180163421..180165631,2	K562	blood:
47	chr1:180150202..180151825-chr1:180157652..180159202,2	MCF-7	breast:
48	chr1:179922612..179925589-chr1:180145470..180148078,2	MCF-7	breast:
49	chr1:180152760..180154935-chr1:180161699..180163252,2	K562	blood:
50	chr1:180161207..180162897-chr1:180165029..180166628,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACBD6-2	chr1:180166485-180167167	ENSG00000247866
2	lnc-LHX4-1	chr1:180167144-180169859	NONHSAT008249
3	lnc-ACBD6-2	chr1:180150090-180151749	ENSG00000247866

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	QSOX1	hsa-miR-124-3p	chr1:180166871-180166877
2	QSOX1	hsa-miR-124-3p	chr1:180167079-180167099

Variant related genes	Relation type
QSOX1	TF binding region
QSOX1	CpG island
ENSG00000260360	chromatin interactions
ENSG00000135847	chromatin interactions
ENSG00000121454	chromatin interactions
ENSG00000116260	chromatin interactions
ENSG00000135837	chromatin interactions
ENSG00000229407	chromatin interactions
ENSG00000169905	chromatin interactions
PHLPP2	miRNA target sites

Extended variants
information (count: 1396 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1396 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12408294	chr1:180146385-180146386	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34390948	chr1:180146386-180146387	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs76809086	chr1:180146403-180146404	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs75034307	chr1:180146405-180146406	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566198413	chr1:180146409-180146410	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs151068041	chr1:180146419-180146420	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs373289649	chr1:180146422-180146423	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554923838	chr1:180146427-180146428	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568547479	chr1:180146428-180146429	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs61811815	chr1:180146484-180146485	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557682918	chr1:180146493-180146494	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs546820730	chr1:180146514-180146515	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs577471462	chr1:180146533-180146534	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs370635525	chr1:180146534-180146535	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs143589175	chr1:180146547-180146548	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs553311643	chr1:180146597-180146598	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs3767182	chr1:180146614-180146615	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs1148810	chr1:180146625-180146626	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs12406041	chr1:180146632-180146633	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562307266	chr1:180146692-180146693	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs79584554	chr1:180146700-180146701	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs188259090	chr1:180146702-180146703	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs1148809	chr1:180146716-180146717	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs1148808	chr1:180146769-180146770	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs544281397	chr1:180146789-180146790	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs564367399	chr1:180146822-180146823	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs146800725	chr1:180146845-180146846	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs546748547	chr1:180146867-180146868	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs34232359	chr1:180146875-180146876	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs181138796	chr1:180146889-180146890	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs528940369	chr1:180146927-180146928	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs16855378	chr1:180146929-180146930	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs112946740	chr1:180146943-180146944	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs529490278	chr1:180146973-180146974	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs374038893	chr1:180146985-180146986	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs371547003	chr1:180146994-180146995	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs386637232	chr1:180147005-180147006	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs3841815	chr1:180147018-180147019	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs72081449	chr1:180147019-180147020	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs56191139	chr1:180147020-180147021	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs200320543	chr1:180147022-180147023	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs397715771	chr1:180147030-180147031	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs577868107	chr1:180147075-180147076	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545273574	chr1:180147121-180147122	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs112480511	chr1:180147128-180147129	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs185629761	chr1:180147177-180147178	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs191828100	chr1:180147191-180147192	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs539772653	chr1:180147197-180147198	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs145323931	chr1:180147213-180147214	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs573514714	chr1:180147272-180147273	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD

Chromatin state (count:769 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180124800-180151000	Weak transcription	Aorta	Aorta
2	chr1:180125200-180150400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:180125600-180159200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:180126000-180151000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:180126000-180151400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:180126200-180152400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:180126400-180153800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:180133400-180153200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:180133800-180152800	Weak transcription	Primary B cells from cord blood	blood
10	chr1:180134000-180167600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:180134400-180168800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:180135000-180169000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:180136200-180167200	Weak transcription	Dnd41	blood
14	chr1:180137200-180148800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:180137200-180153200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:180137200-180155400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:180137400-180157800	Weak transcription	HSMMtube	muscle
18	chr1:180137600-180151200	Weak transcription	Thymus	Thymus
19	chr1:180137600-180153000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:180137800-180148600	Weak transcription	HUVEC	blood vessel
21	chr1:180137800-180150400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:180137800-180151000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:180137800-180153000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:180137800-180159200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:180138000-180148200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:180138000-180148200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:180138000-180151400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:180138000-180151400	Weak transcription	A549	lung
29	chr1:180138000-180153000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:180138200-180153000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr1:180138200-180154200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:180138200-180158000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:180138200-180172800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:180138800-180157600	Weak transcription	K562	blood
35	chr1:180139000-180151600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:180139200-180148200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:180139200-180151400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:180139800-180147800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:180139800-180151000	Weak transcription	Colonic Mucosa	Colon
40	chr1:180140200-180151000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:180140200-180167200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:180141200-180148800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:180142600-180157800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:180142800-180146400	Enhancers	Right Atrium	heart
45	chr1:180142800-180147000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:180143000-180146600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:180143200-180148200	Weak transcription	HSMM	muscle
48	chr1:180143200-180153000	Weak transcription	Brain Angular Gyrus	brain
49	chr1:180143400-180148000	Weak transcription	NHEK	skin
50	chr1:180143400-180148800	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links