Variant report

Variant	nsv879225
Chromosome Location	chr4:69283419-69403394
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	chr4:69364158-69364549	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:69386831-69387059	HepG2	liver:	n/a	n/a
3	BACH1	chr4:69318318-69318341	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr4:69316907-69317183	H1-hESC	embryonic stem cell:	n/a	chr4:69317106-69317120
5	BATF	chr4:69364212-69364472	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:69364150-69364589	GM12878	blood:	n/a	n/a
7	BHLHE40	chr4:69305163-69305286	GM12878	blood:	n/a	n/a
8	CCNT2	chr4:69328625-69328750	K562	blood:	n/a	n/a
9	CEBPB	chr4:69300055-69300288	A549	lung:	n/a	chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300188-69300199 chr4:69300190-69300199 chr4:69300190-69300201 chr4:69300190-69300199 chr4:69300188-69300201
10	CEBPB	chr4:69321591-69322194	MCF-7	breast:	n/a	n/a
11	CEBPB	chr4:69300033-69300365	HepG2	liver:	n/a	chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300188-69300199 chr4:69300190-69300199 chr4:69300190-69300201 chr4:69300190-69300199 chr4:69300188-69300201
12	CEBPB	chr4:69300021-69300356	K562	blood:	n/a	chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300188-69300199 chr4:69300190-69300199 chr4:69300190-69300201 chr4:69300190-69300199 chr4:69300188-69300201
13	CEBPB	chr4:69321712-69322175	MCF-7	breast:	n/a	n/a
14	CEBPB	chr4:69310875-69311174	IMR90	lung:	n/a	chr4:69310996-69311009 chr4:69310996-69311009 chr4:69310996-69311007
15	CEBPB	chr4:69300028-69300381	IMR90	lung:	n/a	chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300188-69300199 chr4:69300190-69300199 chr4:69300190-69300201 chr4:69300190-69300199 chr4:69300188-69300201
16	CEBPB	chr4:69300096-69300253	H1-hESC	embryonic stem cell:	n/a	chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300188-69300199 chr4:69300190-69300199 chr4:69300190-69300201 chr4:69300190-69300199 chr4:69300188-69300201
17	CEBPB	chr4:69327525-69327817	MCF-7	breast:	n/a	n/a
18	CEBPB	chr4:69308568-69308582	HepG2	liver:	n/a	n/a
19	CEBPB	chr4:69325378-69325503	K562	blood:	n/a	n/a
20	CEBPB	chr4:69312976-69313282	MCF-7	breast:	n/a	n/a
21	CTCF	chr4:69364260-69364410	GM12871	blood:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
22	CTCF	chr4:69364243-69364424	GM19240	blood:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
23	CTCF	chr4:69364200-69364442	Hela-S3	cervix:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
24	CTCF	chr4:69364181-69364411	K562	blood:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
25	CTCF	chr4:69364300-69364450	SAEC	small airway:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
26	CTCF	chr4:69364201-69364452	Gliobla	brain:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
27	CTCF	chr4:69364217-69364434	HepG2	liver:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
28	CTCF	chr4:69364320-69364470	HCM	heart:	n/a	n/a
29	CTCF	chr4:69364300-69364360	GM19238	blood:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
30	CTCF	chr4:69369249-69369482	HepG2	liver:	n/a	n/a
31	CTCF	chr4:69364280-69364430	GM12873	blood:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
32	CTCF	chr4:69364300-69364450	GM12867	blood:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
33	CTCF	chr4:69364131-69364550	IMR90	lung:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
34	CTCF	chr4:69364240-69364390	HMF	breast:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
35	CTCF	chr4:69364220-69364370	AG04450	lung:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
36	CTCF	chr4:69364144-69364498	T-47D	breast:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
37	CTCF	chr4:69369297-69369439	MCF-7	breast:	n/a	n/a
38	CTCF	chr4:69364240-69364390	HPF	lung:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
39	CTCF	chr4:69364260-69364410	BE2_C	brain:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
40	CTCF	chr4:69364226-69364420	MCF-7	breast:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
41	CTCF	chr4:69364240-69364390	HRE	kidney:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
42	CTCF	chr4:69364200-69364350	GM12870	blood:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
43	CTCF	chr4:69370560-69370710	MCF-7	breast:	n/a	n/a
44	CTCF	chr4:69364240-69364390	HBMEC	blood vessel:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
45	CTCF	chr4:69364240-69364390	GM12878	blood:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
46	CTCF	chr4:69364260-69364410	GM12865	blood:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
47	CTCF	chr4:69364240-69364390	NHLF	lung:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
48	CTCF	chr4:69364220-69364370	MCF-7	breast:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
49	CTCF	chr4:69364220-69364370	GM12866	blood:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
50	CTCF	chr4:69364155-69364475	Spleen_OC	spleen:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:69355121-69355171	PFSK-1	brain:	n/a
2	chr4:69312514-69312564	AoSMC	blood vessel:	n/a
3	chr4:69355121-69355171	CMK	blood:	n/a
4	chr4:69381368-69381418	HRCEpiC	kidney:	n/a
5	chr4:69312104-69312154	HRPEpiC	eye:	n/a
6	chr4:69312104-69312154	GM12891	blood:	n/a
7	chr4:69355121-69355171	GM06990	blood:	n/a
8	chr4:69381368-69381418	PrEC	prostate:	n/a
9	chr4:69313197-69313247	SKMC	muscle:	n/a
10	chr4:69381368-69381418	BJ	skin:	n/a
11	chr4:69312104-69312154	GM12892	blood:	n/a
12	chr4:69312514-69312564	HMEC	breast:	n/a
13	chr4:69381368-69381418	CMK	blood:	n/a
14	chr4:69340916-69340966	Caco-2	colon:	n/a
15	chr4:69355121-69355171	GM12891	blood:	n/a
16	chr4:69312104-69312154	BJ	skin:	n/a
17	chr4:69340916-69340966	AoSMC	blood vessel:	n/a
18	chr4:69312514-69312564	SK-N-MC	brain:	n/a
19	chr4:69355121-69355171	NB4	blood:	n/a
20	chr4:69340916-69340966	NT2-D1	testis:	n/a
21	chr4:69313197-69313247	GM12891	blood:	n/a
22	chr4:69312514-69312564	HCF	heart:	n/a
23	chr4:69313197-69313247	CMK	blood:	n/a
24	chr4:69312514-69312564	HEK293	kidney:	embryo
25	chr4:69355121-69355171	HRPEpiC	eye:	n/a
26	chr4:69381368-69381418	HNPCEpiC	eye:	n/a
27	chr4:69313197-69313247	GM19239	blood:	n/a
28	chr4:69355121-69355171	HNPCEpiC	eye:	n/a
29	chr4:69381368-69381418	NT2-D1	testis:	n/a
30	chr4:69312514-69312564	PANC-1	pancreas:	n/a
31	chr4:69312514-69312564	BE2_C	brain:	n/a
32	chr4:69312104-69312154	SAEC	small airway:	n/a
33	chr4:69355121-69355171	K562	blood:	n/a
34	chr4:69381368-69381418	PFSK-1	brain:	n/a
35	chr4:69381368-69381418	K562	blood:	n/a
36	chr4:69312104-69312154	HEK293	kidney:	embryo
37	chr4:69313197-69313247	HEK293	kidney:	embryo
38	chr4:69340916-69340966	HEK293	kidney:	embryo
39	chr4:69312104-69312154	AG10803	skin:	n/a
40	chr4:69355121-69355171	AG09319	gingival:	n/a
41	chr4:69312104-69312154	PrEC	prostate:	n/a
42	chr4:69381368-69381418	SKMC	muscle:	n/a
43	chr4:69355121-69355171	HAEpiC	amniotic membrane:	n/a
44	chr4:69313197-69313247	A549	lung:	n/a
45	chr4:69340916-69340966	HMEC	breast:	n/a
46	chr4:69355121-69355171	Hepatocyte	liver:	n/a
47	chr4:69381368-69381418	Hepatocyte	liver:	n/a
48	chr4:69340916-69340966	PFSK-1	brain:	n/a
49	chr4:69312514-69312564	HAEpiC	amniotic membrane:	n/a
50	chr4:69381368-69381418	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:69293251..69295177-chr4:69318009..69319544,2	K562	blood:
2	chr4:69308561..69313812-chr4:69314832..69320961,6	K562	blood:
3	chr4:69330018..69331837-chr4:69335427..69337976,2	MCF-7	breast:
4	chr4:69293251..69295177-chr4:69318009..69319544,2	K562	blood:
5	chr4:69235222..69236888-chr4:69330787..69333108,2	MCF-7	breast:
6	chr4:69330018..69331837-chr4:69335427..69337976,2	MCF-7	breast:
7	chr4:68794694..68797024-chr4:69366841..69368465,2	MCF-7	breast:
8	chr4:69319066..69321050-chr4:69325892..69327547,2	MCF-7	breast:
9	chr4:69363348..69364328-chr4:69890914..69891634,2	MCF-7	breast:
10	chr4:69314066..69315762-chr4:69317720..69319307,2	K562	blood:
11	chr4:69215797..69217317-chr4:69361139..69363891,2	MCF-7	breast:
12	chr4:69211043..69213753-chr4:69341284..69343236,2	K562	blood:
13	chr4:68794156..68795825-chr4:69317354..69319516,2	MCF-7	breast:
14	chr4:69314066..69315762-chr4:69317720..69319307,2	K562	blood:
15	chr4:69326187..69328959-chr4:69331153..69333884,3	MCF-7	breast:
16	chr4:69317417..69319881-chr4:69327468..69329389,2	MCF-7	breast:
17	chr4:69362843..69365661-chr4:69770776..69774163,4	MCF-7	breast:
18	chr4:69311298..69314792-chr4:69316366..69319525,5	MCF-7	breast:
19	chr4:69375140..69375898-chr4:69492301..69492816,2	MCF-7	breast:
20	chr4:69313083..69315969-chr4:69334821..69336429,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2B17-1	chr4:69382627-69383365	NONHSAT096733
2	lnc-UGT2B17-1	chr4:69375159-69375392	NONHSAT096733

Variant related genes	Relation type
TMPRSS11E	TF binding region
UGT2B29P	TF binding region
TMPRSS11E	CpG island
UGT2B29P	CpG island
ENSG00000087128	chromatin interactions
ENSG00000083896	chromatin interactions
ENSG00000272626	chromatin interactions
ENSG00000249985	chromatin interactions

Extended variants
information (count: 3684 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:3684 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4860943	chr4:69283419-69283420	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529464111	chr4:69283437-69283438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4860296	chr4:69283448-69283449	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569541872	chr4:69283465-69283466	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570077814	chr4:69283478-69283479	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151266041	chr4:69283487-69283488	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532786209	chr4:69283499-69283500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549641008	chr4:69283541-69283542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62317495	chr4:69283542-69283543	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs4860297	chr4:69283566-69283567	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs146546175	chr4:69283598-69283599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141471314	chr4:69283609-69283610	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150267146	chr4:69283610-69283611	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4860944	chr4:69283661-69283662	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183515880	chr4:69283719-69283720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576279773	chr4:69283779-69283780	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149396304	chr4:69283791-69283792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571960509	chr4:69283854-69283855	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143087069	chr4:69283903-69283904	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148209217	chr4:69283958-69283959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200155540	chr4:69283997-69283998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529404484	chr4:69284004-69284005	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542803089	chr4:69284008-69284009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142698810	chr4:69284063-69284064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188101752	chr4:69284066-69284067	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551820350	chr4:69284184-69284185	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558301084	chr4:69284190-69284191	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181016223	chr4:69284219-69284220	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541709368	chr4:69284262-69284263	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147364136	chr4:69284266-69284267	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567773349	chr4:69284281-69284282	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375903965	chr4:69284289-69284290	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199748801	chr4:69284292-69284293	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536786923	chr4:69284298-69284299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139441736	chr4:69284373-69284374	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143763488	chr4:69284406-69284407	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575389187	chr4:69284425-69284426	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538888936	chr4:69284445-69284446	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369185419	chr4:69284448-69284449	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558598905	chr4:69284522-69284523	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557675130	chr4:69284524-69284525	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186331523	chr4:69284525-69284526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554184015	chr4:69284550-69284551	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574190883	chr4:69284559-69284560	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543180403	chr4:69284568-69284569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62317496	chr4:69284575-69284576	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543306068	chr4:69284589-69284590	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58500579	chr4:69284599-69284600	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs545655118	chr4:69284613-69284614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191577447	chr4:69284628-69284629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Alcoholism	21790672	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69276400-69283600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr4:69276800-69284600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:69280000-69286000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:69280800-69289600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:69283400-69288000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr4:69283400-69288000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr4:69283600-69284200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr4:69284200-69285000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:69284600-69287000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr4:69284600-69288000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:69285000-69287800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr4:69285000-69288000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr4:69285400-69286800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr4:69285600-69286000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:69286000-69286400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:69286000-69286400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:69286000-69287400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
18	chr4:69287000-69288000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:69288000-69291600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:69291600-69292400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:69292000-69292200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:69292800-69293200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:69293000-69295800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:69295600-69296000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:69295800-69296600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:69295800-69296600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:69296000-69296400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr4:69296000-69296400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:69296000-69296600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:69296400-69300400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:69296400-69300600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:69296600-69312000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:69298200-69298800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr4:69298800-69300400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:69299400-69299600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:69299400-69299800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:69299800-69300200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:69300200-69303400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:69300400-69301000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr4:69300400-69301800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr4:69300400-69302800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr4:69300400-69303400	Enhancers	Primary T cells from cord blood	blood
43	chr4:69300400-69303400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr4:69300400-69303400	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr4:69300600-69300800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:69300600-69300800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:69300600-69301000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:69300600-69302600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr4:69300600-69302800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr4:69300600-69303400	Enhancers	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links