Variant report

Variant	nsv874843
Chromosome Location	chr2:111966947-112023328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:561)
CpG islands
(count:733)
Chromatin interactive
region (count:20)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:112004323-112004568	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:111985482-111985682	HepG2	liver:	n/a	n/a
3	ATF2	chr2:111976732-111977417	GM12878	blood:	n/a	n/a
4	ATF2	chr2:111976722-111977394	GM12878	blood:	n/a	n/a
5	ATF2	chr2:111966356-111967056	GM12878	blood:	n/a	n/a
6	ATF2	chr2:111966420-111967152	GM12878	blood:	n/a	n/a
7	BACH1	chr2:111985385-111985570	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr2:111976643-111977458	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr2:111976766-111977266	GM12878	blood:	n/a	n/a
10	BATF	chr2:111976763-111977305	GM12878	blood:	n/a	n/a
11	BCL11A	chr2:111966602-111967040	GM12878	blood:	n/a	n/a
12	BCL11A	chr2:111966505-111967051	GM12878	blood:	n/a	n/a
13	BCL11A	chr2:111976780-111977280	GM12878	blood:	n/a	chr2:111976963-111976972
14	BCL11A	chr2:111976755-111977325	GM12878	blood:	n/a	chr2:111976963-111976972
15	BCLAF1	chr2:111966426-111967083	GM12878	blood:	n/a	n/a
16	BCLAF1	chr2:111976654-111977381	GM12878	blood:	n/a	chr2:111976963-111976972
17	BCLAF1	chr2:111966608-111967179	GM12878	blood:	n/a	n/a
18	BCLAF1	chr2:111976717-111977322	GM12878	blood:	n/a	chr2:111976963-111976972
19	BHLHE40	chr2:111966256-111967171	GM12878	blood:	n/a	n/a
20	BHLHE40	chr2:111984552-111984877	GM12878	blood:	n/a	n/a
21	BHLHE40	chr2:111996677-111997031	GM12878	blood:	n/a	n/a
22	BHLHE40	chr2:111976773-111977653	GM12878	blood:	n/a	n/a
23	BHLHE40	chr2:112004162-112004599	HepG2	liver:	n/a	n/a
24	BHLHE40	chr2:111997453-111997600	K562	blood:	n/a	n/a
25	BRCA1	chr2:112004146-112004370	HepG2	liver:	n/a	n/a
26	BRCA1	chr2:111984085-111984202	GM12878	blood:	n/a	n/a
27	CBX3	chr2:111973841-111974159	K562	blood:	n/a	n/a
28	CBX3	chr2:111973772-111974204	K562	blood:	n/a	n/a
29	CBX3	chr2:111971474-111971821	K562	blood:	n/a	n/a
30	CBX3	chr2:111971516-111971832	HCT-116	colon:	n/a	n/a
31	CBX3	chr2:111971469-111971782	K562	blood:	n/a	n/a
32	CBX3	chr2:111973087-111973532	K562	blood:	n/a	n/a
33	CEBPB	chr2:111984891-111985207	HepG2	liver:	n/a	n/a
34	CEBPB	chr2:111992919-111992977	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr2:111966631-111966990	GM12878	blood:	n/a	n/a
36	CEBPB	chr2:111984734-111985112	K562	blood:	n/a	n/a
37	CEBPB	chr2:111984653-111985208	IMR90	lung:	n/a	n/a
38	CEBPB	chr2:111984910-111985206	A549	lung:	n/a	n/a
39	CEBPB	chr2:111992845-111993133	HepG2	liver:	n/a	chr2:111992986-111992999 chr2:111992987-111992998 chr2:111992986-111992997
40	CHD2	chr2:111996692-111997000	GM12878	blood:	n/a	n/a
41	CHD2	chr2:112004066-112004248	HepG2	liver:	n/a	n/a
42	CHD2	chr2:111976868-111977067	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr2:111966333-111967157	GM12878	blood:	n/a	n/a
44	CHD2	chr2:111976815-111977623	GM12878	blood:	n/a	n/a
45	CREB1	chr2:111976727-111977734	GM12878	blood:	n/a	n/a
46	CREB1	chr2:111976797-111977450	GM12878	blood:	n/a	n/a
47	CREB1	chr2:111966576-111967086	GM12878	blood:	n/a	n/a
48	CTCF	chr2:111984147-111984225	H1-hESC	embryonic stem cell:	n/a	chr2:111984199-111984207
49	CTCF	chr2:111989200-111989350	GM12874	blood:	n/a	n/a
50	CTCF	chr2:111989248-111989397	GM12878	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:111982156-111982206	NHBE	bronchial:	n/a
2	chr2:111982156-111982206	NHBE	bronchial:	n/a
3	chr2:111981120-111981170	LNCaP	prostate:	n/a
4	chr2:111982509-111982559	SK-N-MC	brain:	n/a
5	chr2:111982296-111982346	ovcar-3	ovarian:	n/a
6	chr2:111982296-111982346	T-47D	breast:	n/a
7	chr2:111979398-111979448	HCM	heart:	n/a
8	chr2:111977269-111977319	Caco-2	colon:	n/a
9	chr2:111985725-111985775	MCF-7	breast:	n/a
10	chr2:111985725-111985775	GM12891	blood:	n/a
11	chr2:111979319-111979369	A549	lung:	n/a
12	chr2:111982509-111982559	PrEC	prostate:	n/a
13	chr2:111996275-111996325	PrEC	prostate:	n/a
14	chr2:111977269-111977319	SK-N-MC	brain:	n/a
15	chr2:111980326-111980376	HPAEpiC	pulmonary alveolar:	n/a
16	chr2:111981120-111981170	AoSMC	blood vessel:	n/a
17	chr2:111985725-111985775	HUVEC	blood vessel:	n/a
18	chr2:111982156-111982206	PrEC	prostate:	n/a
19	chr2:111981120-111981170	HCM	heart:	n/a
20	chr2:111996275-111996325	AG04449	skin:	fetal
21	chr2:111996799-111996849	NHDF-neo	bronchial:	n/a
22	chr2:111996799-111996849	HNPCEpiC	eye:	n/a
23	chr2:111982156-111982206	BE2_C	brain:	n/a
24	chr2:111982296-111982346	A549	lung:	n/a
25	chr2:111981120-111981170	HL-60	blood:	n/a
26	chr2:111982296-111982346	MCF10A-Er-Src	breast:	n/a
27	chr2:111982296-111982346	SK-N-SH	brain:	n/a
28	chr2:111996799-111996849	K562	blood:	n/a
29	chr2:111979398-111979448	SKMC	muscle:	n/a
30	chr2:111980833-111980883	BJ	skin:	n/a
31	chr2:111979319-111979369	GM06990	blood:	n/a
32	chr2:111982296-111982346	ECC-1	luminal epithelium:	n/a
33	chr2:111980326-111980376	HepG2	liver:	n/a
34	chr2:111981120-111981170	HPAEpiC	pulmonary alveolar:	n/a
35	chr2:111996799-111996849	Jurkat	blood:	n/a
36	chr2:111980833-111980883	PrEC	prostate:	n/a
37	chr2:111977269-111977319	SK-N-SH	brain:	n/a
38	chr2:111982509-111982559	NB4	blood:	n/a
39	chr2:111996799-111996849	SK-N-SH	brain:	n/a
40	chr2:111980833-111980883	AG04449	skin:	fetal
41	chr2:111985725-111985775	HCF	heart:	n/a
42	chr2:111982156-111982206	HCM	heart:	n/a
43	chr2:111996275-111996325	HCT-116	colon:	n/a
44	chr2:111996799-111996849	GM12891	blood:	n/a
45	chr2:111982509-111982559	RPTEC	kidney:	n/a
46	chr2:111996799-111996849	NH-A	brain:	n/a
47	chr2:111982509-111982559	HRCEpiC	kidney:	n/a
48	chr2:111981120-111981170	Jurkat	blood:	n/a
49	chr2:111996799-111996849	HCF	heart:	n/a
50	chr2:111980326-111980376	Jurkat	blood:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:111875880..111877905-chr2:111996338..111997967,2	K562	blood:
2	chr2:111992422..111994041-chr2:111997666..112000118,2	MCF-7	breast:
3	chr2:111996763..111999930-chr2:112002314..112005967,4	K562	blood:
4	chr2:111978052..111980710-chr2:111981576..111984099,2	K562	blood:
5	chr2:111992422..111994041-chr2:111997666..112000118,2	MCF-7	breast:
6	chr2:111985051..111989984-chr2:111990013..111994177,5	K562	blood:
7	chr2:111963419..111965229-chr2:111965718..111968351,2	MCF-7	breast:
8	chr2:111990659..111992469-chr2:111994265..111996457,2	K562	blood:
9	chr2:111985051..111989984-chr2:111990013..111994177,5	K562	blood:
10	chr2:111964415..111966724-chr2:111984975..111986739,2	MCF-7	breast:
11	chr2:111978052..111980710-chr2:111981576..111984099,2	K562	blood:
12	chr2:111982529..111984257-chr2:111985770..111989287,4	K562	blood:
13	chr2:111990659..111992469-chr2:111994265..111996457,2	K562	blood:
14	chr2:111982529..111984257-chr2:111985770..111989287,4	K562	blood:
15	chr2:111996763..111999930-chr2:112002314..112005967,4	K562	blood:
16	chr2:111970999..111973382-chr2:112004350..112006635,2	MCF-7	breast:
17	chr2:111879591..111882516-chr2:111991132..111993086,2	MCF-7	breast:
18	chr2:111876826..111879311-chr2:111966028..111968773,2	K562	blood:
19	chr2:111943401..111945501-chr2:111991303..111993728,2	K562	blood:
20	chr2:111970999..111973382-chr2:112004350..112006635,2	MCF-7	breast:

(count:20 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC108463.1-3	chr2:112005007-112005135	ENSG00000172965.6
2	lnc-AC108463.1-3	chr2:111994581-111996624	ENSG00000172965.10
3	lnc-AC108463.1-3	chr2:112005725-112005818	ENSG00000172965.6
4	lnc-AC108463.1-3	chr2:112005725-112005818	NONHSAT073622
5	lnc-AC108463.1-3	chr2:111997401-111997573	ENSG00000172965.6
6	lnc-AC108463.1-3	chr2:111991205-111991316	ENSG00000172965.10
7	lnc-AC108463.1-3	chr2:112005725-112005822	NONHSAT073620
8	lnc-BCL2L11-2	chr2:112022860-112023040	XLOC_001624
9	lnc-AC108463.1-3	chr2:111968605-111968859	NONHSAT073625
10	lnc-AC108463.1-3	chr2:111968933-111969134	ucscGeneNc_uc002thf_2
11	lnc-AC108463.1-3	chr2:112005725-112005818	ENSG00000172965.6
12	lnc-AC108463.1-3	chr2:111991205-111991316	ENSG00000172965.6
13	lnc-AC108463.1-3	chr2:111991205-111991316	NONHSAT073620
14	lnc-AC108463.1-3	chr2:112004962-112005137	NONHSAT073620
15	lnc-AC108463.1-3	chr2:111997379-111997573	NONHSAT073620
16	lnc-AC108463.1-3	chr2:111997379-111997573	ENSG00000172965.6
17	lnc-BCL2L11-6	chr2:111984672-111985038	NONHSAT073621
18	lnc-AC108463.1-3	chr2:111996296-111996630	ENSG00000172965.6
19	lnc-AC108463.1-3	chr2:111968572-111970053	ENSG00000271590.1
20	lnc-AC108463.1-3	chr2:111991205-111991316	NONHSAT073622

No data

Variant related genes	Relation type
MIR4435-1HG	TF binding region
ENSG00000229118	TF binding region
ENSG00000227992	TF binding region
ENSG00000271590	TF binding region
MIR4435-1HG	CpG island
ENSG00000229118	CpG island
ENSG00000227992	CpG island
ENSG00000271590	CpG island
ENSG00000153094	chromatin interactions
ENSG00000172965	chromatin interactions
ENSG00000227992	chromatin interactions
KLHL24	miRNA target sites

Extended variants
information (count: 1928 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1928 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10864954	chr2:111966947-111966948	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182169629	chr2:111967021-111967022	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs188004730	chr2:111967076-111967077	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs141696113	chr2:111967089-111967090	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs550795267	chr2:111967187-111967188	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs192472100	chr2:111967197-111967198	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs76990871	chr2:111967230-111967231	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs183829391	chr2:111967262-111967263	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs188376113	chr2:111967339-111967340	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs535835649	chr2:111967369-111967370	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200630691	chr2:111967382-111967383	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201759575	chr2:111967385-111967386	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555689119	chr2:111967462-111967463	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs79113466	chr2:111967464-111967465	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs193021136	chr2:111967504-111967505	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs184821967	chr2:111967562-111967563	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs145452159	chr2:111967626-111967627	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs573800714	chr2:111967666-111967667	Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs542484815	chr2:111967800-111967801	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs546537368	chr2:111967831-111967832	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs559381661	chr2:111967832-111967833	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs572790241	chr2:111967848-111967849	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs541842113	chr2:111967876-111967877	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs75839108	chr2:111967950-111967951	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs530832067	chr2:111968106-111968107	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs188428088	chr2:111968142-111968143	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs147656339	chr2:111968149-111968150	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs191381108	chr2:111968175-111968176	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs546820747	chr2:111968208-111968209	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs573413323	chr2:111968220-111968221	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs545513263	chr2:111968241-111968242	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs183571125	chr2:111968249-111968250	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs189481893	chr2:111968255-111968256	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs1949138	chr2:111968261-111968262	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560065437	chr2:111968267-111968268	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs140942585	chr2:111968268-111968269	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs182092742	chr2:111968280-111968281	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs538169483	chr2:111968348-111968349	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs558007157	chr2:111968373-111968374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs578134295	chr2:111968374-111968375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534394174	chr2:111968410-111968411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376940216	chr2:111968436-111968437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138101816	chr2:111968452-111968453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572894470	chr2:111968540-111968541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs201882665	chr2:111968572-111968573	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs187196938	chr2:111968581-111968582	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs561680952	chr2:111968591-111968592	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs544913896	chr2:111968666-111968667	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs575281821	chr2:111968688-111968689	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs190021589	chr2:111968719-111968720	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111950200-111969600	Weak transcription	Dnd41	blood
2	chr2:111952200-111974800	Weak transcription	Aorta	Aorta
3	chr2:111953000-111968000	Weak transcription	K562	blood
4	chr2:111954800-112006800	Weak transcription	HUVEC	blood vessel
5	chr2:111957200-111972400	Weak transcription	NHLF	lung
6	chr2:111958000-111974400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:111958400-111967600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:111958400-111968600	Weak transcription	HepG2	liver
9	chr2:111958400-111972000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:111958400-111974200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:111962600-111974400	Weak transcription	Left Ventricle	heart
12	chr2:111964800-111967800	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:111965600-111967600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:111966000-111967200	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:111966200-111967000	Enhancers	Osteobl	bone
16	chr2:111966200-111967200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:111966200-111967200	Enhancers	NH-A	brain
18	chr2:111966200-111969400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:111966200-111971800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:111966200-111974400	Weak transcription	Lung	lung
21	chr2:111966400-111967000	Enhancers	HMEC	breast
22	chr2:111966400-111967000	Enhancers	NHEK	skin
23	chr2:111966400-111967200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:111966400-111967200	Enhancers	HSMM	muscle
25	chr2:111966400-111968600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:111966400-111970600	Weak transcription	NHDF-Ad	bronchial
27	chr2:111966400-111974200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:111966600-111967000	Enhancers	GM12878-XiMat	blood
29	chr2:111966600-111967200	Enhancers	HSMMtube	muscle
30	chr2:111966600-111974400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:111966800-111967200	Enhancers	Primary T cells from cord blood	blood
32	chr2:111966800-111967200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:111967000-111967800	Flanking Active TSS	GM12878-XiMat	blood
34	chr2:111967200-111971400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:111967200-111971800	Weak transcription	HSMMtube	muscle
36	chr2:111967200-111972800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:111967200-111976400	Weak transcription	NH-A	brain
38	chr2:111967800-111968000	Enhancers	GM12878-XiMat	blood
39	chr2:111969200-111969400	Weak transcription	HSMM	muscle
40	chr2:111969400-111969600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:111970600-111973000	ZNF genes & repeats	Dnd41	blood
42	chr2:111971200-111975200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:111971400-111972000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
44	chr2:111971800-111972400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:111971800-111972400	ZNF genes & repeats	HSMMtube	muscle
46	chr2:111971800-111973000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:111972000-111973000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr2:111972000-111977000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:111972200-111972600	ZNF genes & repeats	HSMM	muscle
50	chr2:111972200-111973000	ZNF genes & repeats	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links