Variant report

Variant	nsv1001432
Chromosome Location	chr2:97591069-97671395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1394)
CpG islands
(count:1100)
Chromatin interactive
region (count:163)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1394 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:97596367-97596657	K562	blood:	n/a	n/a
2	ARID3A	chr2:97616979-97617234	K562	blood:	n/a	n/a
3	ARID3A	chr2:97616949-97617173	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:97609031-97609228	K562	blood:	n/a	n/a
5	ARID3A	chr2:97626247-97626524	HepG2	liver:	n/a	n/a
6	ATF2	chr2:97628201-97628549	GM12878	blood:	n/a	n/a
7	ATF2	chr2:97619855-97620550	GM12878	blood:	n/a	n/a
8	BACH1	chr2:97616755-97617176	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr2:97643257-97643537	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr2:97620197-97620581	GM12878	blood:	n/a	n/a
11	BATF	chr2:97619898-97620936	GM12878	blood:	n/a	n/a
12	BCLAF1	chr2:97626129-97626531	GM12878	blood:	n/a	n/a
13	BHLHE40	chr2:97616950-97617235	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:97632546-97632657	K562	blood:	n/a	n/a
15	BHLHE40	chr2:97652345-97652458	K562	blood:	n/a	n/a
16	BHLHE40	chr2:97626100-97626511	HepG2	liver:	n/a	chr2:97626310-97626326
17	BHLHE40	chr2:97612189-97612222	K562	blood:	n/a	n/a
18	BHLHE40	chr2:97625503-97625830	K562	blood:	n/a	chr2:97625661-97625670 chr2:97625658-97625671 chr2:97625660-97625669 chr2:97625660-97625669
19	BHLHE40	chr2:97595061-97595145	K562	blood:	n/a	n/a
20	BHLHE40	chr2:97619795-97619801	K562	blood:	n/a	n/a
21	BHLHE40	chr2:97616758-97617264	K562	blood:	n/a	n/a
22	BHLHE40	chr2:97626137-97626500	GM12878	blood:	n/a	chr2:97626310-97626326
23	BHLHE40	chr2:97594072-97594262	K562	blood:	n/a	n/a
24	BHLHE40	chr2:97616862-97617250	HepG2	liver:	n/a	n/a
25	BHLHE40	chr2:97633734-97634071	K562	blood:	n/a	n/a
26	BHLHE40	chr2:97593633-97593757	K562	blood:	n/a	n/a
27	BHLHE40	chr2:97626089-97626536	K562	blood:	n/a	chr2:97626310-97626326
28	BHLHE40	chr2:97619992-97620538	GM12878	blood:	n/a	n/a
29	BRCA1	chr2:97659412-97659454	GM12878	blood:	n/a	n/a
30	BRCA1	chr2:97616844-97617109	GM12878	blood:	n/a	n/a
31	BRCA1	chr2:97612563-97612635	HepG2	liver:	n/a	n/a
32	BRCA1	chr2:97620001-97620408	GM12878	blood:	n/a	n/a
33	BRCA1	chr2:97626106-97626408	HepG2	liver:	n/a	n/a
34	BRCA1	chr2:97616982-97617415	HepG2	liver:	n/a	n/a
35	CCNT2	chr2:97596404-97596987	K562	blood:	n/a	n/a
36	CCNT2	chr2:97616972-97617228	K562	blood:	n/a	n/a
37	CCNT2	chr2:97626165-97626433	K562	blood:	n/a	n/a
38	CEBPB	chr2:97643711-97643923	A549	lung:	n/a	n/a
39	CEBPB	chr2:97626170-97626445	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr2:97619128-97619431	K562	blood:	n/a	n/a
41	CEBPB	chr2:97619207-97619407	HepG2	liver:	n/a	n/a
42	CEBPB	chr2:97596370-97596638	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr2:97596337-97596608	K562	blood:	n/a	n/a
44	CEBPB	chr2:97617152-97617180	K562	blood:	n/a	n/a
45	CEBPB	chr2:97619123-97619416	IMR90	lung:	n/a	n/a
46	CEBPB	chr2:97643679-97643973	IMR90	lung:	n/a	n/a
47	CEBPB	chr2:97631401-97631515	K562	blood:	n/a	n/a
48	CEBPB	chr2:97607672-97607756	HepG2	liver:	n/a	n/a
49	CEBPB	chr2:97595020-97595368	K562	blood:	n/a	n/a
50	CHD1	chr2:97625691-97626599	IMR90	lung:	n/a	n/a

(count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:97650711-97650761	GM06990	blood:	n/a
2	chr2:97651503-97651553	MCF-7	breast:	n/a
3	chr2:97650711-97650761	GM06990	blood:	n/a
4	chr2:97651503-97651553	MCF-7	breast:	n/a
5	chr2:97653560-97653610	MCF10A-Er-Src	breast:	n/a
6	chr2:97655388-97655438	AG09319	gingival:	n/a
7	chr2:97652440-97652490	MCF10A-Er-Src	breast:	n/a
8	chr2:97651611-97651661	GM12892	blood:	n/a
9	chr2:97655388-97655438	K562	blood:	n/a
10	chr2:97652806-97652856	HepG2	liver:	n/a
11	chr2:97599787-97599837	SKMC	muscle:	n/a
12	chr2:97655388-97655438	HRE	kidney:	n/a
13	chr2:97617061-97617111	HAEpiC	amniotic membrane:	n/a
14	chr2:97653250-97653300	K562	blood:	n/a
15	chr2:97651765-97651815	ProgFib	skin:	n/a
16	chr2:97617061-97617111	NHBE	bronchial:	n/a
17	chr2:97652489-97652539	SKMC	muscle:	n/a
18	chr2:97652806-97652856	SK-N-SH	brain:	n/a
19	chr2:97651611-97651661	PrEC	prostate:	n/a
20	chr2:97652249-97652299	AoSMC	blood vessel:	n/a
21	chr2:97651503-97651553	NH-A	brain:	n/a
22	chr2:97652249-97652299	BE2_C	brain:	n/a
23	chr2:97652489-97652539	HNPCEpiC	eye:	n/a
24	chr2:97651503-97651553	Hela-S3	cervix:	n/a
25	chr2:97652129-97652179	AG04449	skin:	fetal
26	chr2:97653560-97653610	U87	brain:	n/a
27	chr2:97652440-97652490	AG04450	lung:	fetal
28	chr2:97652129-97652179	HPAEpiC	pulmonary alveolar:	n/a
29	chr2:97655388-97655438	NT2-D1	testis:	n/a
30	chr2:97618624-97618674	Caco-2	colon:	n/a
31	chr2:97652489-97652539	HRE	kidney:	n/a
32	chr2:97617061-97617111	GM12878	blood:	n/a
33	chr2:97618624-97618674	SKMC	muscle:	n/a
34	chr2:97652489-97652539	HepG2	liver:	n/a
35	chr2:97652249-97652299	ovcar-3	ovarian:	n/a
36	chr2:97652129-97652179	GM12891	blood:	n/a
37	chr2:97652129-97652179	NHBE	bronchial:	n/a
38	chr2:97650711-97650761	U87	brain:	n/a
39	chr2:97652249-97652299	AG04449	skin:	fetal
40	chr2:97652129-97652179	AoSMC	blood vessel:	n/a
41	chr2:97655388-97655438	MCF-7	breast:	n/a
42	chr2:97651765-97651815	AG04449	skin:	fetal
43	chr2:97618137-97618187	HNPCEpiC	eye:	n/a
44	chr2:97652440-97652490	RPTEC	kidney:	n/a
45	chr2:97652806-97652856	HUVEC	blood vessel:	n/a
46	chr2:97652440-97652490	HepG2	liver:	n/a
47	chr2:97652249-97652299	SAEC	small airway:	n/a
48	chr2:97651611-97651661	HEEpiC	esophagus:	n/a
49	chr2:97651611-97651661	MCF-7	breast:	n/a
50	chr2:97651503-97651553	HUVEC	blood vessel:	n/a

(count:163 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr2:97523162..97525107-chr2:97625067..97626676,25	MCF-7	breast:
2	chr2:97481579..97482495-chr2:97650048..97650628,3	MCF-7	breast:
3	chr2:97601087..97602762-chr2:97605805..97607767,2	K562	blood:
4	chr2:97630118..97631004-chr2:97725358..97726177,2	MCF-7	breast:
5	chr2:97490026..97490966-chr2:97616219..97617186,2	MCF-7	breast:
6	chr2:97524495..97526579-chr2:97610763..97613644,2	K562	blood:
7	chr2:97558219..97561795-chr2:97617145..97620359,3	K562	blood:
8	chr2:97595378..97599170-chr2:97599205..97602080,3	K562	blood:
9	chr2:97632347..97633971-chr2:97643638..97646130,2	MCF-7	breast:
10	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
11	chr2:97426031..97428759-chr2:97617125..97619977,2	MCF-7	breast:
12	chr2:97481522..97482261-chr2:97650059..97650610,3	MCF-7	breast:
13	chr2:97587678..97590009-chr2:97592465..97595347,2	K562	blood:
14	chr2:97623151..97625255-chr2:97629201..97631510,2	MCF-7	breast:
15	chr2:97593280..97593975-chr2:97616667..97617312,2	MCF-7	breast:
16	chr2:97533874..97536783-chr2:97631835..97634576,3	MCF-7	breast:
17	chr2:97524151..97525975-chr2:97600172..97602714,2	K562	blood:
18	chr2:97591472..97593317-chr2:97596171..97598868,2	MCF-7	breast:
19	chr2:97481713..97482226-chr2:97650010..97650560,2	MCF-7	breast:
20	chr2:97623724..97626251-chr2:97633605..97636499,4	K562	blood:
21	chr2:97536159..97540837-chr2:97622900..97627821,5	K562	blood:
22	chr2:97584997..97587138-chr2:97589413..97591489,2	MCF-7	breast:
23	chr2:97590809..97593385-chr2:97597939..97599860,2	MCF-7	breast:
24	chr2:97480920..97483303-chr2:97630288..97633149,2	MCF-7	breast:
25	chr2:97591472..97593317-chr2:97596171..97598868,2	MCF-7	breast:
26	chr2:97534288..97535347-chr2:97616704..97617840,3	MCF-7	breast:
27	chr2:97480657..97482301-chr2:97648745..97651504,3	MCF-7	breast:
28	chr2:97588776..97591371-chr2:97597850..97600657,3	MCF-7	breast:
29	chr2:97534744..97537184-chr2:97615647..97618608,4	K562	blood:
30	chr2:97497731..97500526-chr2:97610997..97613941,2	MCF-7	breast:
31	chr2:97621466..97624037-chr2:97629014..97631871,2	K562	blood:
32	chr2:97523891..97526324-chr2:97628583..97631770,4	MCF-7	breast:
33	chr2:97636377..97638575-chr2:97641382..97642951,2	K562	blood:
34	chr2:97219791..97220688-chr2:97625661..97626293,2	K562	blood:
35	chr2:97583053..97586967-chr2:97591903..97594857,4	MCF-7	breast:
36	chr2:97623151..97625255-chr2:97629201..97631510,2	MCF-7	breast:
37	chr2:97523449..97525572-chr2:97625486..97626805,16	K562	blood:
38	chr2:97593614..97595477-chr2:97599029..97600763,2	MCF-7	breast:
39	chr2:97589310..97591841-chr2:97591978..97596020,4	MCF-7	breast:
40	chr2:97072774..97073298-chr2:97625820..97626695,2	K562	blood:
41	chr2:97500023..97502292-chr2:97598667..97600575,2	MCF-7	breast:
42	chr2:97618220..97618797-chr2:97630393..97631020,2	MCF-7	breast:
43	chr2:97584545..97587294-chr2:97599771..97602609,2	MCF-7	breast:
44	chr2:97617405..97618002-chr2:97630419..97631215,2	MCF-7	breast:
45	chr2:97596756..97599401-chr2:97603450..97605798,2	K562	blood:
46	chr2:97593459..97594414-chr2:97625887..97626638,2	MCF-7	breast:
47	chr2:97534095..97535276-chr2:97625908..97626793,3	MCF-7	breast:
48	chr2:97556750..97558871-chr2:97588696..97591655,2	MCF-7	breast:
49	chr2:97631877..97635109-chr2:97650329..97653813,3	MCF-7	breast:
50	chr2:97302399..97305389-chr2:97622198..97624620,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNNM3-1	chr2:97589781-97591573	ENSG00000246515
2	lnc-CNNM3-1	chr2:97589781-97591574	NONHSAT072593

No data

Variant related genes	Relation type
FAM178B	TF binding region
ENSG00000238760	TF binding region
RNA5SP101	TF binding region
FAM178B	CpG island
ENSG00000238760	CpG island
RNA5SP101	CpG island
ENSG00000204670	chromatin interactions
ENSG00000114982	chromatin interactions
ENSG00000213337	chromatin interactions
ENSG00000158158	chromatin interactions
ENSG00000168758	chromatin interactions
ENSG00000252845	chromatin interactions
ENSG00000168754	chromatin interactions
ENSG00000168763	chromatin interactions
ENSG00000163126	chromatin interactions
CSNK1G1	miRNA target sites

Extended variants
information (count: 2564 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2564 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561318022	chr2:97591076-97591077	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs574935869	chr2:97591111-97591112	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs374721267	chr2:97591116-97591117	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs558996365	chr2:97591124-97591125	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs72942938	chr2:97591131-97591132	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs140125052	chr2:97591165-97591166	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs553266631	chr2:97591177-97591178	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs183477952	chr2:97591218-97591219	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs550792436	chr2:97591237-97591238	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs185916990	chr2:97591301-97591302	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs577674048	chr2:97591307-97591308	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs76474270	chr2:97591359-97591360	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs547136197	chr2:97591407-97591408	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs566935814	chr2:97591451-97591452	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs539064303	chr2:97591456-97591457	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs558990634	chr2:97591463-97591464	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs569576609	chr2:97591464-97591465	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs191921332	chr2:97591520-97591521	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs544739782	chr2:97591607-97591608	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs143951863	chr2:97591620-97591621	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs182963378	chr2:97591657-97591658	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs57993098	chr2:97591658-97591659	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs3903548	chr2:97591670-97591671	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs369202533	chr2:97591680-97591681	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs544651139	chr2:97591681-97591682	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs117939996	chr2:97591689-97591690	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs530482661	chr2:97591691-97591692	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs544179682	chr2:97591702-97591703	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs374392139	chr2:97591716-97591717	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs561207036	chr2:97591753-97591754	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs571294491	chr2:97591755-97591756	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs574940122	chr2:97591761-97591762	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs373030035	chr2:97591773-97591774	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs529928767	chr2:97591788-97591789	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs546797032	chr2:97591837-97591838	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs567019818	chr2:97591866-97591867	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs542192003	chr2:97591902-97591903	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs72942941	chr2:97591904-97591905	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371165018	chr2:97591915-97591916	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs560880290	chr2:97591955-97591956	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs528338077	chr2:97591970-97591971	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs368071196	chr2:97591971-97591972	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs569161076	chr2:97591988-97591989	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs58447335	chr2:97591997-97591998	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs201187658	chr2:97592039-97592040	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs554979771	chr2:97592061-97592062	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs57397886	chr2:97592123-97592124	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs72942943	chr2:97592153-97592154	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553941366	chr2:97592217-97592218	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs572642218	chr2:97592253-97592254	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Medulloblastoma	20607354	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1427 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97582600-97593000	Weak transcription	Right Atrium	heart
2	chr2:97587000-97592200	Weak transcription	Brain Germinal Matrix	brain
3	chr2:97589400-97593800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:97589600-97591200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr2:97589600-97591200	Enhancers	Fetal Heart	heart
6	chr2:97589600-97591400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr2:97589600-97591600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr2:97589600-97593200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:97589800-97591200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr2:97589800-97591200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr2:97589800-97591200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr2:97589800-97591200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr2:97589800-97591400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:97589800-97595200	Enhancers	Fetal Brain Male	brain
15	chr2:97590000-97591600	Enhancers	K562	blood
16	chr2:97590000-97592200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:97590200-97591400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:97590400-97592800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:97590400-97593200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:97590600-97591200	Enhancers	Fetal Stomach	stomach
21	chr2:97590600-97591200	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:97590600-97591600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:97590600-97592200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:97590600-97592200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:97590600-97593600	Enhancers	Brain Angular Gyrus	brain
26	chr2:97590800-97591200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:97590800-97591200	Enhancers	Fetal Thymus	thymus
28	chr2:97590800-97592800	Enhancers	Colon Smooth Muscle	Colon
29	chr2:97590800-97592800	Weak transcription	Spleen	Spleen
30	chr2:97590800-97593200	Weak transcription	Fetal Lung	lung
31	chr2:97591000-97591400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:97591000-97591400	Enhancers	Brain Substantia Nigra	brain
33	chr2:97591000-97591400	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:97591000-97591600	Enhancers	Primary T cells from cord blood	blood
35	chr2:97591000-97591600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:97591000-97591600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr2:97591000-97591600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:97591000-97591600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:97591000-97592400	Enhancers	Brain Anterior Caudate	brain
40	chr2:97591000-97592400	Weak transcription	Fetal Brain Female	brain
41	chr2:97591000-97592800	Enhancers	Brain Hippocampus Middle	brain
42	chr2:97591000-97593200	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:97591000-97593200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:97591200-97591600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr2:97591200-97591600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr2:97591200-97591600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr2:97591200-97591800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:97591200-97592000	Enhancers	Primary T cells fromperipheralblood	blood
49	chr2:97591200-97592400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:97591200-97592800	Weak transcription	Fetal Heart	heart

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