Variant report

Variant	nsv537937
Chromosome Location	chr5:164563093-164852655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:164715567-164715708	K562	blood:	n/a	n/a
2	ATF1	chr5:164694025-164694205	K562	blood:	n/a	n/a
3	BACH1	chr5:164659859-164660056	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr5:164636046-164636049	K562	blood:	n/a	n/a
5	CEBPB	chr5:164583837-164584144	HepG2	liver:	n/a	chr5:164583977-164583988 chr5:164583977-164583990
6	CEBPB	chr5:164653099-164653442	IMR90	lung:	n/a	n/a
7	CEBPB	chr5:164653123-164653378	HepG2	liver:	n/a	n/a
8	CEBPB	chr5:164802293-164802493	HepG2	liver:	n/a	n/a
9	CEBPB	chr5:164789503-164789777	IMR90	lung:	n/a	chr5:164789670-164789683 chr5:164789670-164789683 chr5:164789671-164789682
10	CEBPB	chr5:164802294-164802610	IMR90	lung:	n/a	n/a
11	CEBPB	chr5:164661832-164662015	K562	blood:	n/a	n/a
12	CEBPB	chr5:164832456-164832677	IMR90	lung:	n/a	chr5:164832540-164832551
13	CEBPB	chr5:164599207-164599352	H1-hESC	embryonic stem cell:	n/a	chr5:164599282-164599295
14	CEBPB	chr5:164604001-164604242	HepG2	liver:	n/a	chr5:164604087-164604098
15	CEBPB	chr5:164702617-164702877	HepG2	liver:	n/a	chr5:164702740-164702751
16	CEBPB	chr5:164732106-164732417	HepG2	liver:	n/a	chr5:164732265-164732278 chr5:164732267-164732276 chr5:164732267-164732276 chr5:164732265-164732276 chr5:164732267-164732276 chr5:164732380-164732393 chr5:164732382-164732393 chr5:164732267-164732276
17	CEBPB	chr5:164752974-164753175	HepG2	liver:	n/a	chr5:164753022-164753033
18	CEBPB	chr5:164832470-164832699	HepG2	liver:	n/a	chr5:164832540-164832551
19	CEBPB	chr5:164768330-164768420	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr5:164744121-164744203	A549	lung:	n/a	n/a
21	CEBPB	chr5:164732133-164732416	IMR90	lung:	n/a	chr5:164732265-164732278 chr5:164732267-164732276 chr5:164732267-164732276 chr5:164732265-164732276 chr5:164732267-164732276 chr5:164732380-164732393 chr5:164732382-164732393 chr5:164732267-164732276
22	CEBPB	chr5:164789547-164789785	Hela-S3	cervix:	n/a	chr5:164789670-164789683 chr5:164789670-164789683 chr5:164789671-164789682
23	CEBPB	chr5:164789502-164789779	HepG2	liver:	n/a	chr5:164789670-164789683 chr5:164789670-164789683 chr5:164789671-164789682
24	CEBPB	chr5:164653131-164653304	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr5:164732129-164732420	A549	lung:	n/a	chr5:164732265-164732278 chr5:164732267-164732276 chr5:164732267-164732276 chr5:164732265-164732276 chr5:164732267-164732276 chr5:164732380-164732393 chr5:164732382-164732393 chr5:164732267-164732276
26	CEBPB	chr5:164583824-164584142	IMR90	lung:	n/a	chr5:164583977-164583988 chr5:164583977-164583990
27	CEBPB	chr5:164789633-164789692	K562	blood:	n/a	chr5:164789670-164789683 chr5:164789670-164789683 chr5:164789671-164789682
28	CEBPB	chr5:164753010-164753210	K562	blood:	n/a	chr5:164753022-164753033
29	CEBPB	chr5:164583850-164584104	A549	lung:	n/a	chr5:164583977-164583988 chr5:164583977-164583990
30	CEBPB	chr5:164736288-164736505	A549	lung:	n/a	chr5:164736331-164736342 chr5:164736331-164736340
31	CHD1	chr5:164567265-164567311	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr5:164635960-164636110	GM12864	blood:	n/a	n/a
33	CTCF	chr5:164679160-164679310	HMEC	breast:	n/a	n/a
34	CTCF	chr5:164636260-164636410	GM12867	blood:	n/a	chr5:164636312-164636330 chr5:164636313-164636329 chr5:164636307-164636328
35	CTCF	chr5:164654600-164654750	RPTEC	kidney:	n/a	n/a
36	CTCF	chr5:164588340-164588490	GM12878	blood:	n/a	n/a
37	CTCF	chr5:164636260-164636410	GM12871	blood:	n/a	chr5:164636312-164636330 chr5:164636313-164636329 chr5:164636307-164636328
38	CTCF	chr5:164636253-164636429	GM10248	blood:	n/a	chr5:164636312-164636330 chr5:164636313-164636329 chr5:164636307-164636328
39	CTCF	chr5:164636260-164636410	AG04449	skin:	n/a	chr5:164636312-164636330 chr5:164636313-164636329 chr5:164636307-164636328
40	CTCF	chr5:164654602-164654804	T-47D	breast:	n/a	n/a
41	CTCF	chr5:164636280-164636430	BE2_C	brain:	n/a	chr5:164636312-164636330 chr5:164636313-164636329 chr5:164636307-164636328
42	CTCF	chr5:164678060-164678210	HAc	cerebellar:	n/a	n/a
43	CTCF	chr5:164588320-164588470	GM12870	blood:	n/a	n/a
44	CTCF	chr5:164654620-164654770	HPF	lung:	n/a	n/a
45	CTCF	chr5:164741513-164741604	MCF-7	breast:	n/a	n/a
46	CTCF	chr5:164588320-164588470	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr5:164588400-164588550	GM12864	blood:	n/a	n/a
48	CTCF	chr5:164805363-164805421	GM20000	blood:	n/a	n/a
49	CTCF	chr5:164636220-164636370	GM12865	blood:	n/a	chr5:164636312-164636330 chr5:164636313-164636329 chr5:164636307-164636328
50	CTCF	chr5:164588280-164588430	HEK293	kidney:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:164685724-164685774	ECC-1	luminal epithelium:	n/a
2	chr5:164768524-164768574	HEK293	kidney:	embryo
3	chr5:164633441-164633491	SK-N-SH_RA	brain:	n/a
4	chr5:164633441-164633491	NHDF-neo	bronchial:	n/a
5	chr5:164576826-164576876	GM12892	blood:	n/a
6	chr5:164576826-164576876	MCF-7	breast:	n/a
7	chr5:164658718-164658768	Caco-2	colon:	n/a
8	chr5:164768524-164768574	SAEC	small airway:	n/a
9	chr5:164658718-164658768	HL-60	blood:	n/a
10	chr5:164768524-164768574	HMEC	breast:	n/a
11	chr5:164633441-164633491	AG04449	skin:	fetal
12	chr5:164633441-164633491	PrEC	prostate:	n/a
13	chr5:164576826-164576876	HEEpiC	esophagus:	n/a
14	chr5:164768524-164768574	NH-A	brain:	n/a
15	chr5:164633441-164633491	HepG2	liver:	n/a
16	chr5:164633441-164633491	AG09319	gingival:	n/a
17	chr5:164633441-164633491	SK-N-MC	brain:	n/a
18	chr5:164658718-164658768	H1-hESC	embryonic stem cell:	embryo
19	chr5:164633441-164633491	HIPEpiC	eye:	n/a
20	chr5:164658718-164658768	HEEpiC	esophagus:	n/a
21	chr5:164658718-164658768	Jurkat	blood:	n/a
22	chr5:164576826-164576876	HepG2	liver:	n/a
23	chr5:164685724-164685774	BE2_C	brain:	n/a
24	chr5:164768524-164768574	AG04449	skin:	fetal
25	chr5:164768524-164768574	HAEpiC	amniotic membrane:	n/a
26	chr5:164685724-164685774	BJ	skin:	n/a
27	chr5:164768524-164768574	HPAEpiC	pulmonary alveolar:	n/a
28	chr5:164685724-164685774	HIPEpiC	eye:	n/a
29	chr5:164658718-164658768	PFSK-1	brain:	n/a
30	chr5:164768524-164768574	AG09309	skin:	n/a
31	chr5:164658718-164658768	AG04449	skin:	fetal
32	chr5:164768524-164768574	BJ	skin:	n/a
33	chr5:164576826-164576876	Hela-S3	cervix:	n/a
34	chr5:164576826-164576876	NHBE	bronchial:	n/a
35	chr5:164768524-164768574	IMR90	lung:	fetal
36	chr5:164768524-164768574	HEEpiC	esophagus:	n/a
37	chr5:164768524-164768574	NHBE	bronchial:	n/a
38	chr5:164633441-164633491	Hela-S3	cervix:	n/a
39	chr5:164576826-164576876	AG04450	lung:	fetal
40	chr5:164658718-164658768	HEK293	kidney:	embryo
41	chr5:164768524-164768574	NB4	blood:	n/a
42	chr5:164658718-164658768	HIPEpiC	eye:	n/a
43	chr5:164576826-164576876	Jurkat	blood:	n/a
44	chr5:164633441-164633491	SK-N-SH	brain:	n/a
45	chr5:164685724-164685774	HCF	heart:	n/a
46	chr5:164576826-164576876	AG10803	skin:	n/a
47	chr5:164658718-164658768	AoSMC	blood vessel:	n/a
48	chr5:164768524-164768574	PrEC	prostate:	n/a
49	chr5:164685724-164685774	HUVEC	blood vessel:	n/a
50	chr5:164768524-164768574	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:164845730..164847624-chr5:164851644..164853366,2	K562	blood:
2	chr5:164845730..164847624-chr5:164851644..164853366,2	K562	blood:
3	chr11:61740001..61742365-chr5:164664309..164666584,2	MCF-7	breast:
4	chr5:164385320..164386035-chr5:164636288..164637074,2	MCF-7	breast:
5	chr5:164456273..164457115-chr5:164635699..164636841,5	MCF-7	breast:
6	chr5:164598235..164600768-chr5:164600882..164603643,2	MCF-7	breast:
7	chr5:164598235..164600768-chr5:164600882..164603643,2	MCF-7	breast:
8	chr5:164654170..164654780-chr5:166671406..166672031,2	MCF-7	breast:
9	chr5:164456280..164457191-chr5:164635732..164636716,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDCD2-6	chr5:164668635-164668941	XLOC_005071
2	lnc-NUDCD2-6	chr5:164667468-164667535	NONHSAT104949
3	lnc-NUDCD2-6	chr5:164670198-164670359	NONHSAT104949
4	lnc-NUDCD2-11	chr5:164598082-164598146	l_3052_chr5:164595188-164600866_testes
5	lnc-NUDCD2-6	chr5:164668251-164668274	XLOC_005071
6	lnc-NUDCD2-6	chr5:164662759-164662798	XLOC_005071
7	lnc-NUDCD2-6	chr5:164665486-164665568	NONHSAT104949
8	lnc-NUDCD2-6	chr5:164667587-164667763	NONHSAT104952
9	lnc-NUDCD2-6	chr5:164667468-164667535	ENSG00000254066
10	lnc-ODZ2-2	chr5:164776036-164776056	ENSG00000253693.1
11	lnc-NUDCD2-6	chr5:164667468-164667535	NONHSAT104947
12	lnc-NUDCD2-6	chr5:164667468-164667763	ENSG00000254066
13	lnc-NUDCD2-6	chr5:164668512-164668831	NONHSAT104952
14	lnc-NUDCD2-6	chr5:164667678-164667766	ENSG00000254066
15	lnc-NUDCD2-6	chr5:164667678-164667763	XLOC_005071
16	lnc-NUDCD2-6	chr5:164667678-164667763	XLOC_005071
17	lnc-MAT2B-3	chr5:164598384-164598649	ENSG00000241956.5
18	lnc-NUDCD2-6	chr5:164668635-164668758	ENSG00000254066
19	lnc-MAT2B-3	chr5:164598384-164598619	ENSG00000241956.5
20	lnc-NUDCD2-6	chr5:164648580-164649026	NONHSAT104947
21	lnc-NUDCD2-6	chr5:164667468-164667535	XLOC_005071
22	lnc-MAT2B-3	chr5:164598384-164598619	ENSG00000241956.5
23	lnc-NUDCD2-6	chr5:164667468-164667535	XLOC_005071
24	lnc-NUDCD2-6	chr5:164668635-164668831	NONHSAT104947
25	lnc-NUDCD2-11	chr5:164595189-164595376	l_3052_chr5:164595188-164600866_testes
26	lnc-NUDCD2-11	chr5:164601213-164601399	l_3052_chr5:164595188-164600866_testes
27	lnc-NUDCD2-6	chr5:164647583-164649026	ENSG00000254066
28	lnc-NUDCD2-6	chr5:164667678-164667763	NONHSAT104947
29	lnc-NUDCD2-11	chr5:164600044-164600113	l_3052_chr5:164595188-164600866_testes
30	lnc-NUDCD2-6	chr5:164670198-164670359	NONHSAT104947
31	lnc-NUDCD2-6	chr5:164667678-164667763	NONHSAT104949
32	lnc-NUDCD2-6	chr5:164668635-164668812	XLOC_005071
33	lnc-NUDCD2-12	chr5:164702819-164703173	NONHSAT104954
34	lnc-NUDCD2-6	chr5:164670198-164670359	NONHSAT104952
35	lnc-NUDCD2-6	chr5:164665489-164665568	ENSG00000254066
36	lnc-NUDCD2-11	chr5:164600256-164600866	l_3052_chr5:164595188-164600866_testes
37	lnc-NUDCD2-6	chr5:164665555-164665568	XLOC_005071
38	lnc-NUDCD2-6	chr5:164668635-164668831	NONHSAT104949
39	lnc-NUDCD2-6	chr5:164668635-164668941	XLOC_005071

Variant related genes	Relation type
ENSG00000253693	TF binding region
ENSG00000254066	TF binding region
ENSG00000253693	CpG island
ENSG00000254066	CpG island

Extended variants
information (count: 6882 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:6882 , 50 per page) page: 1 2 3 4 5 6 7 ... 138

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191478917	chr5:164563122-164563123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564365171	chr5:164563172-164563173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528377277	chr5:164563179-164563180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372164462	chr5:164563198-164563199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184119984	chr5:164563200-164563201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568179282	chr5:164563262-164563263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374533393	chr5:164563298-164563299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140231548	chr5:164563300-164563301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369657033	chr5:164563301-164563302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs137914086	chr5:164563306-164563307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537040721	chr5:164563356-164563357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187012773	chr5:164563358-164563359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571079994	chr5:164563391-164563392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574369819	chr5:164563432-164563433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535031682	chr5:164563439-164563440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149407900	chr5:164563449-164563450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535694814	chr5:164563450-164563451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189862582	chr5:164563469-164563470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563792487	chr5:164563499-164563500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143748420	chr5:164563516-164563517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182288250	chr5:164563535-164563536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367650995	chr5:164563645-164563646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557081209	chr5:164563697-164563698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575421050	chr5:164563709-164563710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531158084	chr5:164563724-164563725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545736639	chr5:164563813-164563814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563946313	chr5:164563920-164563921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372894878	chr5:164563926-164563927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6556809	chr5:164563948-164563949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542705231	chr5:164563970-164563971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148134350	chr5:164564003-164564004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560775945	chr5:164564047-164564048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529050709	chr5:164564049-164564050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572258041	chr5:164564101-164564102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200510863	chr5:164564113-164564114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187324639	chr5:164564115-164564116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199693394	chr5:164564132-164564133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563404018	chr5:164564141-164564142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7728866	chr5:164564145-164564146	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs79065015	chr5:164564146-164564147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183551568	chr5:164564147-164564148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570739448	chr5:164564153-164564154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535043585	chr5:164564170-164564171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546971957	chr5:164564179-164564180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188744185	chr5:164564183-164564184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575965109	chr5:164564235-164564236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115861862	chr5:164564256-164564257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142026579	chr5:164564304-164564305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575381852	chr5:164564328-164564329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372970144	chr5:164564332-164564333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	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
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:164557800-164565000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:164557800-164570800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:164558000-164564800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:164558200-164564800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:164558200-164565000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:164562200-164563200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:164562200-164564800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:164562600-164563800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:164562800-164564400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:164562800-164565200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:164563000-164564000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:164563000-164564800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:164563000-164564800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:164563200-164564400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:164563800-164565200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:164564000-164564200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr5:164564000-164568400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:164564200-164564400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr5:164564200-164566200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:164564400-164565000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:164564400-164566000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr5:164564400-164566800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:164564800-164565000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:164564800-164565000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:164564800-164565200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:164564800-164565400	Enhancers	Fetal Lung	lung
27	chr5:164564800-164566200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:164564800-164567600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:164564800-164568000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:164565000-164565200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:164565000-164565200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:164565000-164565400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:164565000-164565600	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr5:164565000-164567200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:164565000-164567400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:164565200-164565400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr5:164565200-164565400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:164565200-164565400	Enhancers	Fetal Brain Female	brain
39	chr5:164565200-164565400	Active TSS	Ovary	ovary
40	chr5:164565200-164565600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr5:164565200-164565600	Active TSS	Brain Angular Gyrus	brain
42	chr5:164565200-164565600	Enhancers	Brain Germinal Matrix	brain
43	chr5:164565200-164565600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr5:164565200-164565800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:164565200-164565800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:164565200-164565800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:164565200-164565800	Active TSS	NH-A	brain
48	chr5:164565200-164570800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:164565400-164565600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr5:164565400-164565600	Flanking Active TSS	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links