Variant report

Variant	nsv563852
Chromosome Location	chr14:22205447-22344160
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	ARID3A	chr14:22314485-22314711	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:22236446-22236646	K562	blood:	n/a	n/a
3	BACH1	chr14:22239915-22240160	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr14:22336665-22336765	GM12878	blood:	n/a	n/a
5	BHLHE40	chr14:22236428-22236693	K562	blood:	n/a	n/a
6	BHLHE40	chr14:22236359-22236692	GM12878	blood:	n/a	n/a
7	BHLHE40	chr14:22328457-22328580	HepG2	liver:	n/a	n/a
8	BRCA1	chr14:22320309-22320440	HepG2	liver:	n/a	n/a
9	CBX3	chr14:22314483-22314815	HCT-116	colon:	n/a	n/a
10	CEBPB	chr14:22220415-22220731	HepG2	liver:	n/a	n/a
11	CEBPB	chr14:22331641-22331879	A549	lung:	n/a	chr14:22331764-22331775
12	CEBPB	chr14:22331741-22331789	K562	blood:	n/a	chr14:22331764-22331775
13	CEBPB	chr14:22249065-22249134	HepG2	liver:	n/a	n/a
14	CEBPB	chr14:22220403-22220709	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr14:22314496-22314592	A549	lung:	n/a	n/a
16	CEBPB	chr14:22249926-22250066	HepG2	liver:	n/a	n/a
17	CEBPB	chr14:22335185-22335344	IMR90	lung:	n/a	n/a
18	CEBPB	chr14:22270575-22270843	HepG2	liver:	n/a	chr14:22270690-22270701
19	CEBPB	chr14:22331634-22331889	IMR90	lung:	n/a	chr14:22331764-22331775
20	CEBPB	chr14:22278968-22279088	HepG2	liver:	n/a	chr14:22279034-22279045
21	CEBPB	chr14:22331605-22331904	HepG2	liver:	n/a	chr14:22331764-22331775
22	CHD2	chr14:22320385-22320589	GM12878	blood:	n/a	n/a
23	CTCF	chr14:22236440-22236590	BJ	skin:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
24	CTCF	chr14:22328420-22328570	HBMEC	blood vessel:	n/a	chr14:22328468-22328489 chr14:22328466-22328484 chr14:22328469-22328478 chr14:22328467-22328483 chr14:22328469-22328482
25	CTCF	chr14:22217200-22217350	GM12874	blood:	n/a	chr14:22217275-22217296 chr14:22217274-22217290 chr14:22217276-22217289 chr14:22217273-22217291
26	CTCF	chr14:22217240-22217390	HEK293	kidney:	n/a	chr14:22217275-22217296 chr14:22217274-22217290 chr14:22217276-22217289 chr14:22217273-22217291
27	CTCF	chr14:22314511-22314793	H1-hESC	embryonic stem cell:	n/a	chr14:22314635-22314656 chr14:22314703-22314716 chr14:22314633-22314651 chr14:22314636-22314645 chr14:22314638-22314648
28	CTCF	chr14:22320297-22320572	LNCaP	prostate:	n/a	chr14:22320434-22320452 chr14:22320435-22320451 chr14:22320436-22320457
29	CTCF	chr14:22328391-22328542	A549	lung:	n/a	chr14:22328468-22328489 chr14:22328466-22328484 chr14:22328469-22328478 chr14:22328467-22328483 chr14:22328469-22328482
30	CTCF	chr14:22320360-22320510	Hela-S3	cervix:	n/a	chr14:22320434-22320452 chr14:22320435-22320451 chr14:22320436-22320457
31	CTCF	chr14:22236440-22236590	HUVEC	blood vessel:	n/a	chr14:22236543-22236561 chr14:22236544-22236560 chr14:22236545-22236566
32	CTCF	chr14:22320380-22320530	NB4	blood:	n/a	chr14:22320434-22320452 chr14:22320435-22320451 chr14:22320436-22320457
33	CTCF	chr14:22265300-22265450	HMF	breast:	n/a	n/a
34	CTCF	chr14:22320360-22320510	AG04450	lung:	n/a	chr14:22320434-22320452 chr14:22320435-22320451 chr14:22320436-22320457
35	CTCF	chr14:22328460-22328610	HVMF	connective:	n/a	chr14:22328468-22328489 chr14:22328466-22328484 chr14:22328469-22328478 chr14:22328467-22328483 chr14:22328469-22328482
36	CTCF	chr14:22293360-22293510	GM12875	blood:	n/a	chr14:22293481-22293499 chr14:22293483-22293504
37	CTCF	chr14:22314520-22314670	RPTEC	kidney:	n/a	chr14:22314635-22314656 chr14:22314633-22314651 chr14:22314636-22314645 chr14:22314638-22314648
38	CTCF	chr14:22314180-22314330	NHEK	skin:	n/a	n/a
39	CTCF	chr14:22309046-22309203	MCF-7	breast:	n/a	chr14:22309094-22309110 chr14:22309095-22309116 chr14:22309093-22309111
40	CTCF	chr14:22314500-22314650	GM06990	blood:	n/a	chr14:22314636-22314645 chr14:22314638-22314648
41	CTCF	chr14:22314508-22314786	Hela-S3	cervix:	n/a	chr14:22314635-22314656 chr14:22314703-22314716 chr14:22314633-22314651 chr14:22314636-22314645 chr14:22314638-22314648
42	CTCF	chr14:22293420-22293570	GM12872	blood:	n/a	chr14:22293481-22293499 chr14:22293515-22293523 chr14:22293483-22293504
43	CTCF	chr14:22336760-22336910	HBMEC	blood vessel:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
44	CTCF	chr14:22336662-22336976	MCF-7	breast:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
45	CTCF	chr14:22314500-22314650	BE2_C	brain:	n/a	chr14:22314636-22314645 chr14:22314638-22314648
46	CTCF	chr14:22217120-22217270	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr14:22336760-22336910	GM12866	blood:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
48	CTCF	chr14:22309000-22309150	HRE	kidney:	n/a	chr14:22309094-22309110 chr14:22309095-22309116 chr14:22309093-22309111
49	CTCF	chr14:22314836-22314986	GM12891	blood:	n/a	n/a
50	CTCF	chr14:22320340-22320490	GM12865	blood:	n/a	chr14:22320434-22320452 chr14:22320435-22320451 chr14:22320436-22320457

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:22265369-22265419	HCPEpiC	choroid plexus:	n/a
2	chr14:22265369-22265419	HCPEpiC	choroid plexus:	n/a
3	chr14:22314416-22314466	HIPEpiC	eye:	n/a
4	chr14:22279816-22279866	AoSMC	blood vessel:	n/a
5	chr14:22314416-22314466	AG09319	gingival:	n/a
6	chr14:22314416-22314466	T-47D	breast:	n/a
7	chr14:22314958-22315008	Hela-S3	cervix:	n/a
8	chr14:22217085-22217135	NB4	blood:	n/a
9	chr14:22314540-22314590	PFSK-1	brain:	n/a
10	chr14:22236598-22236648	HRCEpiC	kidney:	n/a
11	chr14:22309073-22309123	AG09309	skin:	n/a
12	chr14:22336403-22336453	Hela-S3	cervix:	n/a
13	chr14:22265369-22265419	NHDF-neo	bronchial:	n/a
14	chr14:22216296-22216346	MCF10A-Er-Src	breast:	n/a
15	chr14:22265369-22265419	BE2_C	brain:	n/a
16	chr14:22292347-22292397	GM06990	blood:	n/a
17	chr14:22236519-22236569	H1-hESC	embryonic stem cell:	embryo
18	chr14:22320101-22320151	PrEC	prostate:	n/a
19	chr14:22315066-22315116	GM12892	blood:	n/a
20	chr14:22314416-22314466	AoSMC	blood vessel:	n/a
21	chr14:22314682-22314732	Caco-2	colon:	n/a
22	chr14:22314958-22315008	HEEpiC	esophagus:	n/a
23	chr14:22216296-22216346	NHBE	bronchial:	n/a
24	chr14:22314958-22315008	HRE	kidney:	n/a
25	chr14:22315066-22315116	RPTEC	kidney:	n/a
26	chr14:22320101-22320151	MCF10A-Er-Src	breast:	n/a
27	chr14:22236519-22236569	GM12891	blood:	n/a
28	chr14:22314682-22314732	H1-hESC	embryonic stem cell:	embryo
29	chr14:22314958-22315008	GM12891	blood:	n/a
30	chr14:22336403-22336453	SK-N-SH	brain:	n/a
31	chr14:22314416-22314466	HMEC	breast:	n/a
32	chr14:22309073-22309123	HEK293	kidney:	embryo
33	chr14:22216296-22216346	HNPCEpiC	eye:	n/a
34	chr14:22314958-22315008	LNCaP	prostate:	n/a
35	chr14:22315066-22315116	SK-N-SH	brain:	n/a
36	chr14:22241537-22241587	K562	blood:	n/a
37	chr14:22315066-22315116	HMEC	breast:	n/a
38	chr14:22309073-22309123	PANC-1	pancreas:	n/a
39	chr14:22279816-22279866	AG04450	lung:	fetal
40	chr14:22309073-22309123	HAEpiC	amniotic membrane:	n/a
41	chr14:22292347-22292397	IMR90	lung:	fetal
42	chr14:22218494-22218544	Hepatocyte	liver:	n/a
43	chr14:22279816-22279866	ECC-1	luminal epithelium:	n/a
44	chr14:22216296-22216346	HCF	heart:	n/a
45	chr14:22314682-22314732	HepG2	liver:	n/a
46	chr14:22218494-22218544	HL-60	blood:	n/a
47	chr14:22320101-22320151	AG04450	lung:	fetal
48	chr14:22320101-22320151	HEK293	kidney:	embryo
49	chr14:22236519-22236569	SAEC	small airway:	n/a
50	chr14:22292347-22292397	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:22256716..22259521-chr14:22263376..22264997,2	MCF-7	breast:
2	chr14:22310665..22312480-chr14:22315447..22317872,2	MCF-7	breast:
3	chr14:22319960..22320506-chr14:22370012..22371430,7	MCF-7	breast:
4	chr14:22314728..22316376-chr14:22332070..22334330,2	MCF-7	breast:
5	chr14:22238003..22239945-chr14:22252615..22254697,2	MCF-7	breast:
6	chr14:22264815..22265316-chr14:22293406..22294027,2	MCF-7	breast:
7	chr14:22217192..22217714-chr14:22336654..22337322,2	MCF-7	breast:
8	chr14:22217192..22217714-chr14:22336654..22337322,2	MCF-7	breast:
9	chr14:22295303..22297076-chr14:22298582..22300710,2	K562	blood:
10	chr14:22314728..22316376-chr14:22332070..22334330,2	MCF-7	breast:
11	chr14:22327903..22328851-chr14:22336403..22337266,2	MCF-7	breast:
12	chr14:22238003..22239945-chr14:22252615..22254697,2	MCF-7	breast:
13	chr14:22310665..22312480-chr14:22315447..22317872,2	MCF-7	breast:
14	chr14:22236090..22236721-chr14:22293035..22293909,3	MCF-7	breast:
15	chr14:22293105..22294016-chr14:22319903..22320481,2	MCF-7	breast:
16	chr14:22295303..22297076-chr14:22298582..22300710,2	K562	blood:
17	chr12:122491977..122492787-chr14:22328270..22328892,2	MCF-7	breast:
18	chr14:22256716..22259521-chr14:22263376..22264997,2	MCF-7	breast:
19	chr14:22202912..22203435-chr14:22216852..22217387,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4E2-2	chr14:22297692-22297743	NONHSAT035707
2	lnc-AE000662.92.1-10	chr14:22337290-22337543	NONHSAT035709
3	lnc-AE000662.92.1-10	chr14:22237068-22237313	NONHSAT035705
4	lnc-OR10G2-5	chr14:22320548-22320780	NONHSAT035708
5	lnc-OR4E2-2	chr14:22297937-22298223	NONHSAT035707
6	lnc-OR10G2-5	chr14:22320890-22321003	NONHSAT035708

Variant related genes	Relation type
TRAV8-2	TF binding region
RPL4P1	TF binding region
TRAV6	TF binding region
TRAV8-1	TF binding region
ENSG00000222776	TF binding region
TRAV13-1	TF binding region
TRAV7	TF binding region
TRAV10	TF binding region
TRAV11	TF binding region
TRAV5	TF binding region
TRAV9-1	TF binding region
TRAV12-1	TF binding region
TRAV8-3	TF binding region
TRAV8-2	CpG island
RPL4P1	CpG island
TRAV6	CpG island
TRAV8-1	CpG island
ENSG00000222776	CpG island
TRAV13-1	CpG island
TRAV7	CpG island
TRAV10	CpG island
TRAV11	CpG island
TRAV5	CpG island
TRAV9-1	CpG island
TRAV12-1	CpG island
TRAV8-3	CpG island
ENSG00000211788	chromatin interactions
ENSG00000211779	chromatin interactions
ENSG00000256379	chromatin interactions
ENSG00000211784	chromatin interactions

Extended variants
information (count: 3509 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:3509 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3817625	chr14:22205447-22205448	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571948596	chr14:22205463-22205464	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs191263185	chr14:22205471-22205472	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs540310472	chr14:22205481-22205482	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs564386244	chr14:22205484-22205485	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs561782236	chr14:22205492-22205493	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs533295279	chr14:22205579-22205580	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs55950514	chr14:22205603-22205604	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs77613355	chr14:22205607-22205608	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550512242	chr14:22205615-22205616	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs529350187	chr14:22205616-22205617	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs549214806	chr14:22205653-22205654	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs114865486	chr14:22205763-22205764	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528494113	chr14:22205767-22205768	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs551393664	chr14:22205866-22205867	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs149635235	chr14:22205869-22205870	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571585136	chr14:22205878-22205879	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs537393049	chr14:22205879-22205880	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs77722379	chr14:22205940-22205941	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs558277984	chr14:22205986-22205987	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs567772208	chr14:22206048-22206049	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs573248097	chr14:22206058-22206059	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs555190889	chr14:22206088-22206089	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs541256624	chr14:22206129-22206130	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs571972284	chr14:22206134-22206135	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs534579277	chr14:22206178-22206179	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs557834649	chr14:22206201-22206202	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs577992097	chr14:22206204-22206205	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs74035042	chr14:22206239-22206240	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563429925	chr14:22206260-22206261	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs138464925	chr14:22206313-22206314	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs373501377	chr14:22206369-22206370	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs543075511	chr14:22206401-22206402	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs140947119	chr14:22206408-22206409	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs528612675	chr14:22206439-22206440	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs75770763	chr14:22206496-22206497	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs183024264	chr14:22206548-22206549	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs564976718	chr14:22206550-22206551	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs531066058	chr14:22206551-22206552	Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs550865629	chr14:22206623-22206624	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs567819877	chr14:22206634-22206635	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs536460606	chr14:22206635-22206636	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs150184694	chr14:22206639-22206640	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs112216138	chr14:22206682-22206683	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs187766434	chr14:22206707-22206708	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs138815987	chr14:22206708-22206709	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs113079509	chr14:22206710-22206711	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs149365335	chr14:22206715-22206716	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs144733001	chr14:22206746-22206747	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs574480052	chr14:22206756-22206757	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Breast cancer	21364760	CNVD
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Barrett''s syndrome	19417022	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lysinuric protein intolerance	18716612	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22188400-22209600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:22203400-22205600	Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr14:22203800-22205800	Active TSS	Primary T cells from cord blood	blood
4	chr14:22204000-22205800	Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr14:22204000-22206200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr14:22204000-22207000	Active TSS	Fetal Thymus	thymus
7	chr14:22204000-22208200	Active TSS	Thymus	Thymus
8	chr14:22205400-22206600	Active TSS	Primary T cells fromperipheralblood	blood
9	chr14:22205600-22206000	Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr14:22205600-22208800	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
11	chr14:22205800-22206000	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
12	chr14:22205800-22207400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
13	chr14:22206000-22206400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr14:22206200-22208000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr14:22206400-22206600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
16	chr14:22206600-22206800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr14:22206600-22207000	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
18	chr14:22207000-22207200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr14:22207000-22211200	Active TSS	Primary T cells fromperipheralblood	blood
20	chr14:22208000-22208200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr14:22208000-22209000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr14:22208200-22208400	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr14:22208200-22209400	Active TSS	Primary T cells from cord blood	blood
24	chr14:22208400-22208600	Bivalent/Poised TSS	Fetal Thymus	thymus
25	chr14:22208600-22209400	Active TSS	Fetal Thymus	thymus
26	chr14:22209000-22210200	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr14:22209400-22210600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
28	chr14:22209400-22211200	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
29	chr14:22209600-22211200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr14:22209800-22210200	Bivalent/Poised TSS	Fetal Thymus	thymus
31	chr14:22210000-22211200	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
32	chr14:22217000-22217200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
33	chr14:22217000-22217600	Enhancers	Brain Substantia Nigra	brain
34	chr14:22217200-22217400	Enhancers	Primary B cells from peripheral blood	blood
35	chr14:22217200-22217400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:22217200-22217400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:22217200-22217400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:22217200-22217400	Active TSS	Brain Anterior Caudate	brain
39	chr14:22217200-22217600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
40	chr14:22217200-22217600	Enhancers	HepG2	liver
41	chr14:22217200-22217800	Active TSS	Primary T cells from cord blood	blood
42	chr14:22217400-22217600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr14:22217400-22217600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr14:22217400-22217600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr14:22217400-22217600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr14:22217400-22217600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:22217400-22217600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr14:22217400-22217600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:22217400-22217600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:22217400-22217600	Flanking Active TSS	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links