Variant report

Variant	nsv526301
Chromosome Location	chr2:113451498-113495785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1623)
CpG islands
(count:305)
Chromatin interactive
region (count:145)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1623 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:113470816-113471130	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:113484298-113484482	K562	blood:	n/a	n/a
3	ARID3A	chr2:113463802-113464251	K562	blood:	n/a	n/a
4	ARID3A	chr2:113482543-113482710	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:113482567-113482699	K562	blood:	n/a	n/a
6	ARID3A	chr2:113470854-113471064	K562	blood:	n/a	n/a
7	ARID3A	chr2:113485587-113485959	K562	blood:	n/a	n/a
8	ARID3A	chr2:113484256-113484623	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:113459570-113459885	HepG2	liver:	n/a	n/a
10	ATF1	chr2:113476270-113476404	K562	blood:	n/a	n/a
11	ATF1	chr2:113470769-113471122	K562	blood:	n/a	n/a
12	ATF1	chr2:113485537-113485999	K562	blood:	n/a	n/a
13	ATF1	chr2:113463778-113464170	K562	blood:	n/a	n/a
14	ATF2	chr2:113464925-113466306	GM12878	blood:	n/a	n/a
15	ATF2	chr2:113465819-113466214	GM12878	blood:	n/a	n/a
16	ATF2	chr2:113459374-113459856	GM12878	blood:	n/a	n/a
17	ATF2	chr2:113484070-113484674	GM12878	blood:	n/a	n/a
18	ATF3	chr2:113463768-113464205	K562	blood:	n/a	n/a
19	BACH1	chr2:113463829-113464161	K562	blood:	n/a	n/a
20	BACH1	chr2:113484298-113484553	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr2:113484287-113484572	GM12878	blood:	n/a	n/a
22	BATF	chr2:113465673-113466208	GM12878	blood:	n/a	n/a
23	BATF	chr2:113459529-113459890	GM12878	blood:	n/a	chr2:113459704-113459715
24	BATF	chr2:113465787-113466148	GM12878	blood:	n/a	n/a
25	BATF	chr2:113483426-113483701	GM12878	blood:	n/a	chr2:113483567-113483578 chr2:113483568-113483578
26	BATF	chr2:113459144-113459468	GM12878	blood:	n/a	n/a
27	BATF	chr2:113483428-113483798	GM12878	blood:	n/a	chr2:113483567-113483578 chr2:113483568-113483578
28	BATF	chr2:113463811-113464122	GM12878	blood:	n/a	n/a
29	BCL11A	chr2:113465750-113466193	GM12878	blood:	n/a	n/a
30	BCL11A	chr2:113463860-113464116	GM12878	blood:	n/a	chr2:113464000-113464007
31	BCL11A	chr2:113465826-113466133	GM12878	blood:	n/a	n/a
32	BCL11A	chr2:113459454-113459797	GM12878	blood:	n/a	n/a
33	BCL3	chr2:113465813-113466182	GM12878	blood:	n/a	n/a
34	BCL3	chr2:113483384-113483839	GM12878	blood:	n/a	n/a
35	BCLAF1	chr2:113463707-113464241	GM12878	blood:	n/a	chr2:113464000-113464007
36	BCLAF1	chr2:113465627-113466276	GM12878	blood:	n/a	n/a
37	BCLAF1	chr2:113463694-113464236	K562	blood:	n/a	chr2:113464000-113464007
38	BCLAF1	chr2:113484212-113484684	GM12878	blood:	n/a	n/a
39	BCLAF1	chr2:113484194-113484679	GM12878	blood:	n/a	n/a
40	BHLHE40	chr2:113483385-113484660	GM12878	blood:	n/a	chr2:113483667-113483680
41	BHLHE40	chr2:113483533-113483755	K562	blood:	n/a	chr2:113483667-113483680
42	BHLHE40	chr2:113463529-113464298	K562	blood:	n/a	n/a
43	BHLHE40	chr2:113465642-113466217	GM12878	blood:	n/a	n/a
44	BHLHE40	chr2:113456638-113457073	GM12878	blood:	n/a	n/a
45	BHLHE40	chr2:113470441-113471106	K562	blood:	n/a	n/a
46	BHLHE40	chr2:113459318-113459829	GM12878	blood:	n/a	n/a
47	BHLHE40	chr2:113482477-113482564	GM12878	blood:	n/a	n/a
48	BHLHE40	chr2:113482327-113482732	K562	blood:	n/a	n/a
49	BHLHE40	chr2:113484261-113484644	HepG2	liver:	n/a	n/a
50	BHLHE40	chr2:113483441-113483918	HepG2	liver:	n/a	chr2:113483667-113483680

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:113465072-113465122	HIPEpiC	eye:	n/a
2	chr2:113483728-113483778	HCM	heart:	n/a
3	chr2:113465072-113465122	Hela-S3	cervix:	n/a
4	chr2:113486498-113486548	HRCEpiC	kidney:	n/a
5	chr2:113470704-113470754	SAEC	small airway:	n/a
6	chr2:113483728-113483778	PFSK-1	brain:	n/a
7	chr2:113464048-113464098	NH-A	brain:	n/a
8	chr2:113465072-113465122	Caco-2	colon:	n/a
9	chr2:113464048-113464098	HepG2	liver:	n/a
10	chr2:113465072-113465122	AG10803	skin:	n/a
11	chr2:113465072-113465122	GM06990	blood:	n/a
12	chr2:113464048-113464098	GM12891	blood:	n/a
13	chr2:113465072-113465122	HCPEpiC	choroid plexus:	n/a
14	chr2:113483728-113483778	BE2_C	brain:	n/a
15	chr2:113483728-113483778	HMEC	breast:	n/a
16	chr2:113470704-113470754	U87	brain:	n/a
17	chr2:113465072-113465122	AG04449	skin:	fetal
18	chr2:113470704-113470754	K562	blood:	n/a
19	chr2:113465072-113465122	HepG2	liver:	n/a
20	chr2:113486498-113486548	HUVEC	blood vessel:	n/a
21	chr2:113470704-113470754	GM12891	blood:	n/a
22	chr2:113470704-113470754	Hepatocyte	liver:	n/a
23	chr2:113464048-113464098	AG04449	skin:	fetal
24	chr2:113483728-113483778	MCF10A-Er-Src	breast:	n/a
25	chr2:113470704-113470754	NB4	blood:	n/a
26	chr2:113465072-113465122	K562	blood:	n/a
27	chr2:113464048-113464098	HRCEpiC	kidney:	n/a
28	chr2:113470704-113470754	NH-A	brain:	n/a
29	chr2:113486498-113486548	HIPEpiC	eye:	n/a
30	chr2:113486498-113486548	AG04449	skin:	fetal
31	chr2:113464048-113464098	Jurkat	blood:	n/a
32	chr2:113464048-113464098	K562	blood:	n/a
33	chr2:113483728-113483778	HPAEpiC	pulmonary alveolar:	n/a
34	chr2:113464048-113464098	GM19239	blood:	n/a
35	chr2:113465072-113465122	HUVEC	blood vessel:	n/a
36	chr2:113486498-113486548	GM12891	blood:	n/a
37	chr2:113464048-113464098	MCF10A-Er-Src	breast:	n/a
38	chr2:113465072-113465122	ECC-1	luminal epithelium:	n/a
39	chr2:113464048-113464098	U87	brain:	n/a
40	chr2:113486498-113486548	PrEC	prostate:	n/a
41	chr2:113465072-113465122	HRCEpiC	kidney:	n/a
42	chr2:113483728-113483778	BJ	skin:	n/a
43	chr2:113470704-113470754	ProgFib	skin:	n/a
44	chr2:113465072-113465122	NH-A	brain:	n/a
45	chr2:113465072-113465122	HL-60	blood:	n/a
46	chr2:113465072-113465122	SK-N-SH_RA	brain:	n/a
47	chr2:113470704-113470754	PANC-1	pancreas:	n/a
48	chr2:113486498-113486548	HL-60	blood:	n/a
49	chr2:113464048-113464098	SAEC	small airway:	n/a
50	chr2:113486498-113486548	SAEC	small airway:	n/a

(count:145 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:113465999..113468016-chr2:113469384..113470949,2	K562	blood:
2	chr2:113490480..113492391-chr2:113497209..113499304,2	MCF-7	breast:
3	chr2:113458404..113460724-chr2:113468297..113470571,2	K562	blood:
4	chr2:113444435..113446825-chr2:113447700..113452009,3	MCF-7	breast:
5	chr2:113403381..113406309-chr2:113461047..113462788,2	K562	blood:
6	chr2:113340714..113343330-chr2:113462470..113465365,2	K562	blood:
7	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
8	chr2:113423910..113425934-chr2:113475592..113478150,2	K562	blood:
9	chr2:113389533..113392236-chr2:113492953..113495168,2	K562	blood:
10	chr2:113414501..113417087-chr2:113468688..113471406,2	K562	blood:
11	chr2:113401688..113406035-chr2:113480430..113485744,11	MCF-7	breast:
12	chr2:113407931..113409765-chr2:113463471..113465338,2	K562	blood:
13	chr2:113380065..113382456-chr2:113480700..113483703,3	MCF-7	breast:
14	chr2:113339955..113341936-chr2:113481777..113484601,3	MCF-7	breast:
15	chr2:113414879..113416797-chr2:113454427..113457223,2	K562	blood:
16	chr2:113450086..113451690-chr2:113470849..113472489,2	K562	blood:
17	chr2:113338256..113339919-chr2:113484252..113486585,3	MCF-7	breast:
18	chr2:113448136..113451389-chr2:113461614..113465494,4	K562	blood:
19	chr2:113357797..113359633-chr2:113475754..113478612,2	K562	blood:
20	chr2:113397350..113406961-chr2:113434420..113455729,52	K562	blood:
21	chr2:113480533..113482697-chr2:113482909..113484492,2	K562	blood:
22	chr2:113461776..113469381-chr2:113473397..113480932,10	K562	blood:
23	chr2:113444971..113447243-chr2:113449701..113451945,3	K562	blood:
24	chr2:113401698..113404474-chr2:113451513..113454636,3	MCF-7	breast:
25	chr2:113453857..113455888-chr2:113460947..113463917,2	K562	blood:
26	chr2:113471766..113473686-chr2:113477982..113479580,2	MCF-7	breast:
27	chr2:113462523..113464029-chr2:113482070..113484503,2	MCF-7	breast:
28	chr2:113470986..113471535-chr2:113484133..113484894,2	K562	blood:
29	chr2:113482871..113484637-chr2:113485555..113488424,2	K562	blood:
30	chr2:113446769..113452405-chr2:113453017..113461667,12	K562	blood:
31	chr2:113420288..113422863-chr2:113448665..113451519,3	MCF-7	breast:
32	chr2:113297047..113302352-chr2:113483159..113487384,5	K562	blood:
33	chr2:113458059..113460940-chr2:113462365..113464957,4	K562	blood:
34	chr2:113357362..113358295-chr2:113483923..113484596,5	MCF-7	breast:
35	chr2:113470986..113471535-chr2:113484133..113484894,2	K562	blood:
36	chr2:113384187..113384849-chr2:113482175..113483114,3	MCF-7	breast:
37	chr2:113478980..113481125-chr2:113482565..113484434,2	MCF-7	breast:
38	chr2:113456909..113459689-chr2:113463239..113465215,3	K562	blood:
39	chr2:113402591..113403420-chr2:113483970..113484957,3	K562	blood:
40	chr2:113450142..113452191-chr2:113453793..113456655,2	K562	blood:
41	chr2:113448245..113450207-chr2:113454665..113457286,2	MCF-7	breast:
42	chr2:113401472..113405460-chr2:113462823..113466044,10	K562	blood:
43	chr2:113450415..113452081-chr2:113453116..113455723,2	MCF-7	breast:
44	chr2:113462767..113464610-chr2:113470290..113471852,2	K562	blood:
45	chr2:113402071..113405083-chr2:113489239..113491182,3	K562	blood:
46	chr2:113299836..113301714-chr2:113487045..113489440,2	MCF-7	breast:
47	chr2:113456909..113459689-chr2:113463239..113465215,3	K562	blood:
48	chr2:113450415..113452081-chr2:113453116..113455723,2	MCF-7	breast:
49	chr2:113475474..113478098-chr2:113481097..113483249,3	MCF-7	breast:
50	chr2:113462767..113464610-chr2:113470290..113471852,2	K562	blood:

No data

Variant related genes	Relation type
NT5DC4	TF binding region
NT5DC4	CpG island
ENSG00000169607	chromatin interactions
ENSG00000237753	chromatin interactions
ENSG00000243389	chromatin interactions
ENSG00000125611	chromatin interactions
ENSG00000144136	chromatin interactions
ENSG00000114999	chromatin interactions
ENSG00000153208	chromatin interactions
ENSG00000125630	chromatin interactions
ENSG00000144130	chromatin interactions

Extended variants
information (count: 1928 )
Associated
traits (count: 69 )

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	rs6746908	chr2:113451498-113451499	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555201673	chr2:113451578-113451579	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs11444068	chr2:113451601-113451602	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs66792356	chr2:113451602-113451603	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs74506542	chr2:113451619-113451620	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs147882365	chr2:113451633-113451634	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs78497235	chr2:113451647-113451648	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs374935604	chr2:113451662-113451663	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs193105202	chr2:113451663-113451664	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs184302325	chr2:113451673-113451674	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs139829179	chr2:113451686-113451687	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs528259075	chr2:113451687-113451688	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs9308677	chr2:113451747-113451748	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs187660890	chr2:113451748-113451749	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs9308678	chr2:113451761-113451762	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs541838781	chr2:113451763-113451764	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs192767107	chr2:113451798-113451799	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs183940677	chr2:113451806-113451807	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs549932581	chr2:113451807-113451808	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs188718412	chr2:113451821-113451822	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs181551498	chr2:113451844-113451845	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs10432600	chr2:113451878-113451879	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs145621797	chr2:113451892-113451893	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs386649247	chr2:113451894-113451895	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs57133190	chr2:113451896-113451897	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs568712521	chr2:113451899-113451900	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs556762937	chr2:113451902-113451903	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs373969667	chr2:113451903-113451904	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs61300217	chr2:113451904-113451905	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs576980121	chr2:113451907-113451908	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs551370311	chr2:113451969-113451970	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs576721341	chr2:113451990-113451991	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs553016981	chr2:113452096-113452097	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs374205186	chr2:113452106-113452107	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs148887734	chr2:113452113-113452114	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs113085730	chr2:113452119-113452120	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs562405556	chr2:113452185-113452186	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs184356017	chr2:113452209-113452210	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs79055296	chr2:113452215-113452216	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs543399124	chr2:113452257-113452258	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs190478360	chr2:113452290-113452291	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs367789232	chr2:113452291-113452292	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs60560326	chr2:113452304-113452305	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs182189983	chr2:113452327-113452328	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs552415553	chr2:113452339-113452340	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs386649248	chr2:113452346-113452347	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs549410277	chr2:113452347-113452348	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559460634	chr2:113452357-113452358	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs528222009	chr2:113452360-113452361	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs114327221	chr2:113452366-113452367	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113448200-113451600	Enhancers	Primary T cells fromperipheralblood	blood
2	chr2:113448200-113452200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:113448400-113451600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:113448400-113451600	Enhancers	K562	blood
5	chr2:113449000-113451600	Enhancers	Hela-S3	cervix
6	chr2:113449200-113456800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:113449600-113452200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:113450200-113452000	Enhancers	Spleen	Spleen
9	chr2:113450800-113451600	Enhancers	GM12878-XiMat	blood
10	chr2:113450800-113451600	Enhancers	HMEC	breast
11	chr2:113450800-113451800	Enhancers	Dnd41	blood
12	chr2:113450800-113456000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:113450800-113456200	Weak transcription	Primary B cells from cord blood	blood
14	chr2:113451000-113455000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:113451000-113455000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:113451200-113456400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:113451400-113454800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:113451400-113455000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:113451400-113455400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:113451600-113452200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr2:113451600-113454400	Weak transcription	K562	blood
22	chr2:113451600-113455400	Weak transcription	GM12878-XiMat	blood
23	chr2:113451800-113462800	Weak transcription	Dnd41	blood
24	chr2:113452200-113452400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr2:113452200-113454600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:113454400-113455000	Enhancers	K562	blood
27	chr2:113454600-113458200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:113454800-113460600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:113455000-113455400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:113455000-113456000	Weak transcription	K562	blood
31	chr2:113455000-113458000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:113455000-113458200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:113455400-113456000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr2:113455400-113457600	Enhancers	GM12878-XiMat	blood
35	chr2:113456000-113456200	Enhancers	K562	blood
36	chr2:113456000-113457800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr2:113456000-113460000	Enhancers	Primary hematopoietic stem cells	blood
38	chr2:113456200-113456600	Weak transcription	K562	blood
39	chr2:113456200-113459400	Enhancers	Primary B cells from cord blood	blood
40	chr2:113456400-113457400	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr2:113456400-113460200	Enhancers	Primary B cells from peripheral blood	blood
42	chr2:113456600-113460000	Enhancers	K562	blood
43	chr2:113456800-113459000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:113457200-113458600	Enhancers	Adipose Nuclei	Adipose
45	chr2:113457400-113457800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr2:113457400-113457800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:113457400-113458800	Enhancers	Fetal Lung	lung
48	chr2:113457600-113458600	Flanking Active TSS	GM12878-XiMat	blood
49	chr2:113457600-113458800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:113457800-113458200	Enhancers	Monocytes-CD14+_RO01746	blood

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