Variant report

Variant	nsv8857
Chromosome Location	chr1:224359943-224383023
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:952)
CpG islands
(count:916)
Chromatin interactive
region (count:36)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:952 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:224370678-224370878	K562	blood:	n/a	n/a
2	ATF2	chr1:224369919-224370719	GM12878	blood:	n/a	n/a
3	ATF2	chr1:224369862-224370874	GM12878	blood:	n/a	n/a
4	ATF2	chr1:224373703-224374218	GM12878	blood:	n/a	n/a
5	BACH1	chr1:224370214-224370728	K562	blood:	n/a	n/a
6	BACH1	chr1:224370306-224371929	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr1:224369963-224370712	GM12878	blood:	n/a	n/a
8	BATF	chr1:224373899-224374125	GM12878	blood:	n/a	n/a
9	BATF	chr1:224376071-224376459	GM12878	blood:	n/a	n/a
10	BATF	chr1:224376110-224376478	GM12878	blood:	n/a	n/a
11	BATF	chr1:224370076-224370519	GM12878	blood:	n/a	n/a
12	BATF	chr1:224373901-224374178	GM12878	blood:	n/a	n/a
13	BCL11A	chr1:224370003-224370737	GM12878	blood:	n/a	n/a
14	BCL11A	chr1:224369967-224370768	GM12878	blood:	n/a	n/a
15	BCL3	chr1:224371074-224371639	GM12878	blood:	n/a	chr1:224371255-224371268 chr1:224371297-224371310
16	BCL3	chr1:224369930-224370579	GM12878	blood:	n/a	n/a
17	BCLAF1	chr1:224369956-224372041	GM12878	blood:	n/a	chr1:224371651-224371664 chr1:224371255-224371268 chr1:224371297-224371310
18	BCLAF1	chr1:224373796-224374272	GM12878	blood:	n/a	chr1:224374024-224374033
19	BCLAF1	chr1:224369960-224371269	GM12878	blood:	n/a	chr1:224371255-224371268
20	BHLHE40	chr1:224371875-224372584	GM12878	blood:	n/a	n/a
21	BHLHE40	chr1:224370463-224370951	HepG2	liver:	n/a	n/a
22	BHLHE40	chr1:224370137-224371481	K562	blood:	n/a	chr1:224370983-224370999
23	BHLHE40	chr1:224371767-224372551	K562	blood:	n/a	n/a
24	BHLHE40	chr1:224371755-224372263	HepG2	liver:	n/a	n/a
25	BHLHE40	chr1:224369908-224371618	GM12878	blood:	n/a	chr1:224370983-224370999
26	BRCA1	chr1:224371019-224371126	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr1:224370933-224371138	HepG2	liver:	n/a	n/a
28	BRCA1	chr1:224370964-224371400	GM12878	blood:	n/a	n/a
29	BRCA1	chr1:224370463-224370681	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr1:224370466-224371145	Hela-S3	cervix:	n/a	n/a
31	CBX3	chr1:224370423-224371512	K562	blood:	n/a	n/a
32	CCNT2	chr1:224380995-224381180	K562	blood:	n/a	n/a
33	CCNT2	chr1:224370566-224371782	K562	blood:	n/a	n/a
34	CEBPB	chr1:224370226-224370400	HepG2	liver:	n/a	chr1:224370338-224370349
35	CEBPB	chr1:224370153-224370522	A549	lung:	n/a	chr1:224370338-224370349
36	CEBPB	chr1:224370154-224370540	A549	lung:	n/a	chr1:224370338-224370349
37	CEBPB	chr1:224370126-224370582	ECC-1	luminal epithelium:	n/a	chr1:224370338-224370349
38	CEBPB	chr1:224370194-224370451	HepG2	liver:	n/a	chr1:224370338-224370349
39	CEBPB	chr1:224370049-224370512	GM12878	blood:	n/a	chr1:224370338-224370349
40	CEBPB	chr1:224370033-224370942	A549	lung:	n/a	chr1:224370338-224370349
41	CEBPB	chr1:224370165-224370548	H1-hESC	embryonic stem cell:	n/a	chr1:224370338-224370349
42	CEBPB	chr1:224371714-224372115	K562	blood:	n/a	n/a
43	CEBPB	chr1:224370119-224370560	ECC-1	luminal epithelium:	n/a	chr1:224370338-224370349
44	CEBPB	chr1:224370154-224370768	HepG2	liver:	n/a	chr1:224370338-224370349
45	CEBPB	chr1:224370129-224370544	MCF-7	breast:	n/a	chr1:224370338-224370349
46	CEBPB	chr1:224370163-224370693	IMR90	lung:	n/a	chr1:224370338-224370349
47	CEBPB	chr1:224370148-224370494	K562	blood:	n/a	chr1:224370338-224370349
48	CEBPB	chr1:224369918-224370907	GM12878	blood:	n/a	chr1:224370338-224370349
49	CEBPB	chr1:224370070-224370626	K562	blood:	n/a	chr1:224370338-224370349
50	CEBPB	chr1:224370142-224370542	K562	blood:	n/a	chr1:224370338-224370349

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:224370322-224370372	SKMC	muscle:	n/a
2	chr1:224370322-224370372	SKMC	muscle:	n/a
3	chr1:224370155-224370205	AG09309	skin:	n/a
4	chr1:224363449-224363499	HRE	kidney:	n/a
5	chr1:224372558-224372608	Jurkat	blood:	n/a
6	chr1:224372558-224372608	HRE	kidney:	n/a
7	chr1:224370616-224370666	H1-hESC	embryonic stem cell:	embryo
8	chr1:224368143-224368193	HAEpiC	amniotic membrane:	n/a
9	chr1:224371490-224371540	HL-60	blood:	n/a
10	chr1:224363494-224363544	Jurkat	blood:	n/a
11	chr1:224370909-224370959	ovcar-3	ovarian:	n/a
12	chr1:224371627-224371677	CMK	blood:	n/a
13	chr1:224370322-224370372	HCT-116	colon:	n/a
14	chr1:224370155-224370205	ProgFib	skin:	n/a
15	chr1:224363494-224363544	MCF10A-Er-Src	breast:	n/a
16	chr1:224370909-224370959	AG09319	gingival:	n/a
17	chr1:224372558-224372608	K562	blood:	n/a
18	chr1:224363494-224363544	HNPCEpiC	eye:	n/a
19	chr1:224370586-224370636	HMEC	breast:	n/a
20	chr1:224371608-224371658	HL-60	blood:	n/a
21	chr1:224371029-224371079	GM12891	blood:	n/a
22	chr1:224370909-224370959	AG04449	skin:	fetal
23	chr1:224371490-224371540	Hela-S3	cervix:	n/a
24	chr1:224370909-224370959	HRCEpiC	kidney:	n/a
25	chr1:224371490-224371540	RPTEC	kidney:	n/a
26	chr1:224368143-224368193	HMEC	breast:	n/a
27	chr1:224370586-224370636	NHBE	bronchial:	n/a
28	chr1:224371490-224371540	HRE	kidney:	n/a
29	chr1:224371029-224371079	HAEpiC	amniotic membrane:	n/a
30	chr1:224370909-224370959	HAEpiC	amniotic membrane:	n/a
31	chr1:224363575-224363625	GM12892	blood:	n/a
32	chr1:224363494-224363544	ProgFib	skin:	n/a
33	chr1:224371608-224371658	HMEC	breast:	n/a
34	chr1:224371627-224371677	SK-N-MC	brain:	n/a
35	chr1:224370322-224370372	NHDF-neo	bronchial:	n/a
36	chr1:224371608-224371658	GM12891	blood:	n/a
37	chr1:224370586-224370636	K562	blood:	n/a
38	chr1:224363575-224363625	SK-N-SH_RA	brain:	n/a
39	chr1:224363449-224363499	GM19239	blood:	n/a
40	chr1:224372558-224372608	Hela-S3	cervix:	n/a
41	chr1:224370616-224370666	AoSMC	blood vessel:	n/a
42	chr1:224363494-224363544	Hela-S3	cervix:	n/a
43	chr1:224370155-224370205	SK-N-SH_RA	brain:	n/a
44	chr1:224370909-224370959	SAEC	small airway:	n/a
45	chr1:224370616-224370666	HRE	kidney:	n/a
46	chr1:224370909-224370959	MCF-7	breast:	n/a
47	chr1:224371029-224371079	HEEpiC	esophagus:	n/a
48	chr1:224371627-224371677	A549	lung:	n/a
49	chr1:224371029-224371079	HPAEpiC	pulmonary alveolar:	n/a
50	chr1:224370155-224370205	AoSMC	blood vessel:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224372056..224374246-chr1:224379708..224382000,2	MCF-7	breast:
2	chr1:224379393..224381215-chr1:224390955..224393182,2	K562	blood:
3	chr1:224376992..224377644-chrX:125292998..125293831,2	MCF-7	breast:
4	chr1:224374669..224377400-chr1:224391823..224393961,2	K562	blood:
5	chr1:224300672..224304210-chr1:224370293..224374026,4	K562	blood:
6	chr1:224372056..224374246-chr1:224379708..224382000,2	MCF-7	breast:
7	chr1:224369887..224372532-chr1:224544188..224545968,2	K562	blood:
8	chr1:224360308..224362774-chr1:224371769..224373334,2	K562	blood:
9	chr1:224365921..224368193-chr1:224369712..224372520,2	MCF-7	breast:
10	chr1:224360308..224362774-chr1:224371769..224373334,2	K562	blood:
11	chr1:155903882..155904544-chr1:224370613..224371319,2	NB4	blood:
12	chr1:224300829..224303053-chr1:224369472..224372249,3	K562	blood:
13	chr1:224301888..224304582-chr1:224366795..224368300,2	MCF-7	breast:
14	chr1:224368636..224372565-chr1:224373050..224376148,4	MCF-7	breast:
15	chr1:224365921..224368193-chr1:224369712..224372520,2	MCF-7	breast:
16	chr1:224370946..224371512-chr11:10830037..10830673,2	Hela-S3	cervix:
17	chr1:224370494..224371298-chr14:65380984..65381699,2	NB4	blood:
18	chr1:224363073..224364083-chr8:102217577..102218188,4	MCF-7	breast:
19	chr1:224370762..224371562-chr8:8859801..8860395,2	NB4	blood:
20	chr1:224364638..224368268-chr1:224368914..224372684,7	K562	blood:
21	chr1:224362050..224363556-chr8:102216788..102219070,2	MCF-7	breast:
22	chr1:224369367..224372466-chr1:224374660..224377497,3	MCF-7	breast:
23	chr1:224376961..224379372-chr1:224517838..224520632,2	K562	blood:
24	chr1:224371208..224373580-chr1:224396360..224399111,2	K562	blood:
25	chr1:224370476..224371389-chr19:10764924..10765537,2	NB4	blood:
26	chr1:224301633..224304176-chr1:224369181..224370763,2	MCF-7	breast:
27	chr1:224364638..224368268-chr1:224368914..224372684,7	K562	blood:
28	chr1:224370373..224370972-chr20:62205307..62205990,2	HCT-116	colon:
29	chr1:224301824..224303982-chr1:224364171..224366941,2	K562	blood:
30	chr1:224370348..224372775-chr1:224619496..224622200,4	K562	blood:
31	chr1:11968032..11968606-chr1:224370512..224371497,2	Hela-S3	cervix:
32	chr1:224370849..224371381-chr19:55897316..55897888,2	NB4	blood:
33	chr1:224370348..224372410-chr1:224620146..224621939,2	K562	blood:
34	chr1:224359001..224360594-chr1:224368834..224371786,3	K562	blood:
35	chr1:224363055..224364051-chr8:102217454..102218022,3	MCF-7	breast:
36	chr1:224365629..224367265-chr1:224369608..224372554,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NVL-6	chr1:224363178-224363408	NONHSAT009776

No data

Variant related genes	Relation type
ENSG00000236773	TF binding region
ENSG00000201898	TF binding region
DEGS1	TF binding region
ENSG00000236773	CpG island
ENSG00000201898	CpG island
DEGS1	CpG island
ENSG00000143748	chromatin interactions
ENSG00000162923	chromatin interactions
ENSG00000129351	chromatin interactions
ENSG00000143771	chromatin interactions
ENSG00000232628	chromatin interactions
ENSG00000143756	chromatin interactions
ENSG00000130589	chromatin interactions
ENSG00000104626	chromatin interactions
ENSG00000110321	chromatin interactions
ENSG00000108107	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000258289	chromatin interactions
ENSG00000132680	chromatin interactions
ENSG00000143753	chromatin interactions
ENSG00000125954	chromatin interactions
ENSG00000201898	chromatin interactions
ENSG00000120963	chromatin interactions

Extended variants
information (count: 867 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:867 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375228039	chr1:224359966-224359967	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534382467	chr1:224359996-224359997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149631937	chr1:224359997-224359998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567863938	chr1:224360002-224360003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563959868	chr1:224360054-224360055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs202056157	chr1:224360056-224360057	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200019646	chr1:224360060-224360061	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538307649	chr1:224360064-224360065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144381783	chr1:224360070-224360071	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577948459	chr1:224360097-224360098	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369077264	chr1:224360112-224360113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530187633	chr1:224360125-224360126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548305003	chr1:224360130-224360131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538691077	chr1:224360132-224360133	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111968686	chr1:224360134-224360135	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6657195	chr1:224360141-224360142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573098391	chr1:224360160-224360161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs140196480	chr1:224360167-224360168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561502840	chr1:224360215-224360216	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566890434	chr1:224360239-224360240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200956027	chr1:224360240-224360241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564590796	chr1:224360268-224360269	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143797206	chr1:224360303-224360304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375452104	chr1:224360351-224360352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs532928119	chr1:224360352-224360353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544719472	chr1:224360353-224360354	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528501035	chr1:224360362-224360363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551815580	chr1:224360366-224360367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs190315173	chr1:224360417-224360418	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs181485627	chr1:224360422-224360423	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs2051106	chr1:224360447-224360448	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs114286254	chr1:224360473-224360474	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs548363506	chr1:224360499-224360500	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs146377655	chr1:224360560-224360561	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs531970709	chr1:224360628-224360629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186536870	chr1:224360655-224360656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561849893	chr1:224360658-224360659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527667059	chr1:224360662-224360663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571687072	chr1:224360691-224360692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2051105	chr1:224360700-224360701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs368254626	chr1:224360729-224360730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549594924	chr1:224360743-224360744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142117231	chr1:224360760-224360761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10916414	chr1:224360772-224360773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs189388850	chr1:224360891-224360892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10916415	chr1:224360892-224360893	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs16844819	chr1:224360933-224360934	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs181075286	chr1:224360999-224361000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544115631	chr1:224361018-224361019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185287117	chr1:224361055-224361056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1229 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:224339200-224363200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:224345400-224363400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:224345600-224363400	Weak transcription	Ovary	ovary
5	chr1:224346400-224370000	Weak transcription	Esophagus	oesophagus
6	chr1:224346600-224363200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:224346600-224363200	Weak transcription	Fetal Stomach	stomach
8	chr1:224346600-224363400	Weak transcription	Right Ventricle	heart
9	chr1:224346600-224363400	Weak transcription	Spleen	Spleen
10	chr1:224357000-224363200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:224357200-224363200	Weak transcription	Brain Substantia Nigra	brain
12	chr1:224357200-224363400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:224357800-224363200	Weak transcription	HUVEC	blood vessel
14	chr1:224358000-224363200	Weak transcription	Adipose Nuclei	Adipose
15	chr1:224358200-224363400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:224358400-224363400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:224358600-224361200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:224358600-224362600	Weak transcription	Fetal Thymus	thymus
19	chr1:224358600-224363000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:224358600-224363000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:224358600-224363200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:224358600-224363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:224358600-224363200	Weak transcription	HMEC	breast
24	chr1:224358600-224363400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:224358600-224363400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:224359000-224360600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr1:224359000-224360800	Weak transcription	NHEK	skin
28	chr1:224359000-224361400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:224359000-224363200	Weak transcription	Placenta	Placenta
30	chr1:224359000-224363400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:224359000-224363400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:224359000-224369200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:224359000-224369200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:224359000-224370200	Weak transcription	Small Intestine	intestine
35	chr1:224359200-224363200	Weak transcription	Primary B cells from cord blood	blood
36	chr1:224359200-224363400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr1:224359200-224363400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:224360600-224363200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:224360800-224362000	Enhancers	NHEK	skin
40	chr1:224361200-224361800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:224361400-224363200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:224361800-224363200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:224362000-224362400	Weak transcription	NHEK	skin
44	chr1:224362400-224363200	Enhancers	NHEK	skin
45	chr1:224362600-224363800	Enhancers	Fetal Thymus	thymus
46	chr1:224362800-224369600	Weak transcription	Fetal Intestine Small	intestine
47	chr1:224363000-224363200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:224363000-224363200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
49	chr1:224363000-224363200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:224363000-224363200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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