Variant report

Variant	nsv1002375
Chromosome Location	chr3:53822319-53872753
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:517)
CpG islands
(count:1040)
Chromatin interactive
region (count:35)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr3:53850518-53850789	GM12878	blood:	n/a	n/a
2	BCL3	chr3:53832194-53832489	GM12878	blood:	n/a	n/a
3	BCL3	chr3:53832200-53832481	GM12878	blood:	n/a	n/a
4	BHLHE40	chr3:53827434-53827500	K562	blood:	n/a	chr3:53827438-53827447 chr3:53827438-53827447 chr3:53827439-53827448
5	BHLHE40	chr3:53840974-53841053	GM12878	blood:	n/a	n/a
6	BHLHE40	chr3:53832306-53832468	K562	blood:	n/a	n/a
7	BHLHE40	chr3:53839195-53839556	GM12878	blood:	n/a	chr3:53839342-53839363 chr3:53839346-53839359
8	BRCA1	chr3:53836759-53836763	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr3:53852292-53852425	HepG2	liver:	n/a	n/a
10	CEBPB	chr3:53828657-53828912	IMR90	lung:	n/a	n/a
11	CEBPB	chr3:53823016-53823597	A549	lung:	n/a	n/a
12	CEBPB	chr3:53822069-53822404	HepG2	liver:	n/a	chr3:53822251-53822262
13	CHD2	chr3:53845847-53845978	HepG2	liver:	n/a	n/a
14	CHD2	chr3:53851341-53851397	HepG2	liver:	n/a	n/a
15	CHD2	chr3:53849305-53849342	HepG2	liver:	n/a	n/a
16	CREB1	chr3:53828576-53829085	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr3:53846580-53846730	GM12872	blood:	n/a	n/a
18	CTCF	chr3:53868400-53868550	AG10803	skin:	n/a	n/a
19	CTCF	chr3:53857562-53857861	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr3:53857600-53857750	HepG2	liver:	n/a	n/a
21	CTCF	chr3:53857620-53857770	HEK293	kidney:	n/a	n/a
22	CTCF	chr3:53840674-53840763	Gliobla	brain:	n/a	chr3:53840714-53840727
23	CTCF	chr3:53846465-53846759	GM12878	blood:	n/a	n/a
24	CTCF	chr3:53867100-53867250	HepG2	liver:	n/a	chr3:53867218-53867231
25	CTCF	chr3:53837740-53837890	GM12873	blood:	n/a	chr3:53837814-53837823
26	CTCF	chr3:53846520-53846670	GM12875	blood:	n/a	n/a
27	CTCF	chr3:53857700-53857850	GM12875	blood:	n/a	n/a
28	CTCF	chr3:53846569-53846666	GM13977	blood:	n/a	n/a
29	CTCF	chr3:53830320-53830470	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr3:53847402-53847596	K562	blood:	n/a	n/a
31	CTCF	chr3:53846460-53846610	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr3:53856720-53856870	GM12865	blood:	n/a	chr3:53856856-53856865 chr3:53856725-53856738
33	CTCF	chr3:53846595-53846680	GM12892	blood:	n/a	n/a
34	CTCF	chr3:53868420-53868570	HEK293	kidney:	n/a	n/a
35	CTCF	chr3:53833580-53833730	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr3:53861004-53861005	GM10248	blood:	n/a	n/a
37	CTCF	chr3:53840680-53840830	AG09309	skin:	n/a	chr3:53840714-53840727
38	CTCF	chr3:53840620-53840770	AG09319	gingival:	n/a	chr3:53840714-53840727
39	CTCF	chr3:53846560-53846710	GM12866	blood:	n/a	n/a
40	CTCF	chr3:53857700-53857850	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr3:53846528-53846672	GM12878	blood:	n/a	n/a
42	CTCF	chr3:53846546-53846672	GM20000	blood:	n/a	n/a
43	CTCF	chr3:53837940-53838090	NHDF-neo	bronchial:	n/a	chr3:53838017-53838030
44	CTCF	chr3:53839875-53839934	GM19239	blood:	n/a	n/a
45	CTCF	chr3:53823620-53823770	NHEK	skin:	n/a	n/a
46	CTCF	chr3:53837660-53837810	HepG2	liver:	n/a	chr3:53837674-53837687
47	CTCF	chr3:53840567-53840892	IMR90	lung:	n/a	chr3:53840861-53840869 chr3:53840714-53840727
48	CTCF	chr3:53837740-53837890	AG10803	skin:	n/a	chr3:53837814-53837823
49	CTCF	chr3:53868380-53868530	GM12873	blood:	n/a	n/a
50	CTCF	chr3:53837720-53837870	GM12872	blood:	n/a	chr3:53837814-53837823

(count:1040 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:53860720-53860770	HPAEpiC	pulmonary alveolar:	n/a
2	chr3:53845930-53845980	HRE	kidney:	n/a
3	chr3:53860720-53860770	HL-60	blood:	n/a
4	chr3:53860720-53860770	HPAEpiC	pulmonary alveolar:	n/a
5	chr3:53845930-53845980	HRE	kidney:	n/a
6	chr3:53860720-53860770	HL-60	blood:	n/a
7	chr3:53844172-53844222	H1-hESC	embryonic stem cell:	embryo
8	chr3:53855929-53855979	HUVEC	blood vessel:	n/a
9	chr3:53860720-53860770	HCT-116	colon:	n/a
10	chr3:53857445-53857495	HepG2	liver:	n/a
11	chr3:53855125-53855175	IMR90	lung:	fetal
12	chr3:53845287-53845337	BE2_C	brain:	n/a
13	chr3:53860720-53860770	ProgFib	skin:	n/a
14	chr3:53855929-53855979	NH-A	brain:	n/a
15	chr3:53843939-53843989	SAEC	small airway:	n/a
16	chr3:53857939-53857989	H1-hESC	embryonic stem cell:	embryo
17	chr3:53857876-53857926	K562	blood:	n/a
18	chr3:53855125-53855175	AG09309	skin:	n/a
19	chr3:53857989-53858039	AG10803	skin:	n/a
20	chr3:53857698-53857748	NH-A	brain:	n/a
21	chr3:53845287-53845337	HCM	heart:	n/a
22	chr3:53845287-53845337	NHDF-neo	bronchial:	n/a
23	chr3:53845930-53845980	NHBE	bronchial:	n/a
24	chr3:53843939-53843989	HL-60	blood:	n/a
25	chr3:53857989-53858039	T-47D	breast:	n/a
26	chr3:53857953-53858003	HRPEpiC	eye:	n/a
27	chr3:53845287-53845337	ovcar-3	ovarian:	n/a
28	chr3:53857445-53857495	CMK	blood:	n/a
29	chr3:53845287-53845337	GM06990	blood:	n/a
30	chr3:53857939-53857989	GM06990	blood:	n/a
31	chr3:53850724-53850774	HRPEpiC	eye:	n/a
32	chr3:53855125-53855175	HAEpiC	amniotic membrane:	n/a
33	chr3:53857953-53858003	PrEC	prostate:	n/a
34	chr3:53857698-53857748	AoSMC	blood vessel:	n/a
35	chr3:53860720-53860770	HNPCEpiC	eye:	n/a
36	chr3:53860720-53860770	HUVEC	blood vessel:	n/a
37	chr3:53845930-53845980	NT2-D1	testis:	n/a
38	chr3:53857445-53857495	MCF10A-Er-Src	breast:	n/a
39	chr3:53839610-53839660	BJ	skin:	n/a
40	chr3:53839610-53839660	AG09319	gingival:	n/a
41	chr3:53844068-53844118	GM12878	blood:	n/a
42	chr3:53843939-53843989	HCM	heart:	n/a
43	chr3:53844068-53844118	HEK293	kidney:	embryo
44	chr3:53857445-53857495	NHDF-neo	bronchial:	n/a
45	chr3:53845930-53845980	LNCaP	prostate:	n/a
46	chr3:53857876-53857926	HEK293	kidney:	embryo
47	chr3:53857989-53858039	LNCaP	prostate:	n/a
48	chr3:53857876-53857926	HCM	heart:	n/a
49	chr3:53855125-53855175	LNCaP	prostate:	n/a
50	chr3:53857698-53857748	NHBE	bronchial:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:103124630..103126130-chr3:53844188..53847168,2	K562	blood:
2	chr3:53827199..53830305-chr3:53832365..53836212,3	MCF-7	breast:
3	chr3:53844168..53845668-chr3:73159088..73161601,2	K562	blood:
4	chr3:53859983..53863659-chr3:53876929..53880341,3	MCF-7	breast:
5	chr3:53825519..53828140-chr3:53828616..53831592,4	K562	blood:
6	chr11:62607628..62610723-chr3:53844168..53845688,3	K562	blood:
7	chr3:53815441..53817589-chr3:53822941..53824697,2	K562	blood:
8	chr3:53844168..53847188-chr3:73158624..73161592,4	K562	blood:
9	chr3:53846376..53848488-chr3:53854187..53856200,2	MCF-7	breast:
10	chr3:53853872..53855809-chr3:53924023..53926528,2	K562	blood:
11	chr17:41464201..41466333-chr3:53844168..53847168,4	K562	blood:
12	chr3:53866511..53869792-chr3:53878002..53881981,4	MCF-7	breast:
13	chr3:53849527..53851449-chr3:53878802..53881652,2	MCF-7	breast:
14	chr1:160082467..160082984-chr3:53845168..53845688,2	MCF-7	breast:
15	chr11:62609137..62610648-chr3:53844188..53845688,2	MCF-7	breast:
16	chr3:53841128..53843687-chr3:53845515..53847366,2	K562	blood:
17	chr17:41399053..41400665-chr3:53844168..53845688,2	MCF-7	breast:
18	chr3:53841487..53843004-chr3:53876631..53879451,2	MCF-7	breast:
19	chr3:53866125..53868465-chr3:53874787..53877078,2	K562	blood:
20	chr3:53844590..53847374-chr3:53851329..53853049,2	K562	blood:
21	chr3:53827661..53829202-chr3:53830415..53833221,2	MCF-7	breast:
22	chr3:53865722..53867529-chr3:53870209..53872321,2	MCF-7	breast:
23	chr3:53846376..53848488-chr3:53854187..53856200,2	MCF-7	breast:
24	chr3:53826568..53829356-chr3:53836868..53838582,2	K562	blood:
25	chr3:53844590..53847374-chr3:53851329..53853049,2	K562	blood:
26	chr3:53871494..53874275-chr3:53875042..53877358,2	MCF-7	breast:
27	chr3:53857432..53859908-chr3:53878977..53881329,3	MCF-7	breast:
28	chr3:53865722..53867529-chr3:53870209..53872321,2	MCF-7	breast:
29	chr1:160082464..160083987-chr3:53844168..53845688,2	K562	blood:
30	chr17:41465368..41466186-chr3:53845668..53846168,2	NB4	blood:
31	chr3:53841128..53843687-chr3:53845515..53847366,2	K562	blood:
32	chr11:62609135..62609723-chr3:53845168..53845688,6	HCT-116	colon:
33	chr3:53826568..53829356-chr3:53836868..53838582,2	K562	blood:
34	chr3:53826640..53828312-chr3:53828616..53830435,2	K562	blood:
35	chr17:41398908..41400636-chr3:53845668..53847188,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHDH-1	chr3:53831791-53832046	ENSG00000271916.1
2	lnc-ACTR8-3	chr3:53868060-53870643	ncRnaDb_ncrna_FR081823_1

No data

Variant related genes	Relation type
CACNA1D	TF binding region
ENSG00000271916	TF binding region
CACNA1D	CpG island
ENSG00000271916	CpG island
ENSG00000016391	chromatin interactions
ENSG00000222414	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000271916	chromatin interactions
ENSG00000113811	chromatin interactions
ENSG00000157388	chromatin interactions
ENSG00000056736	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000188825	chromatin interactions

Extended variants
information (count: 2103 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2103 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3774598	chr3:53822319-53822320	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527772336	chr3:53822335-53822336	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552683347	chr3:53822342-53822343	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564113792	chr3:53822358-53822359	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3774599	chr3:53822368-53822369	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74912129	chr3:53822373-53822374	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373578949	chr3:53822389-53822390	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186959960	chr3:53822416-53822417	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7652251	chr3:53822467-53822468	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549176151	chr3:53822525-53822526	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568930369	chr3:53822535-53822536	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542059069	chr3:53822543-53822544	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531974986	chr3:53822582-53822583	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370611450	chr3:53822600-53822601	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192669807	chr3:53822610-53822611	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183107642	chr3:53822647-53822648	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577653457	chr3:53822657-53822658	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112082630	chr3:53822696-53822697	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35382499	chr3:53822715-53822716	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550414137	chr3:53822720-53822721	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573981388	chr3:53822742-53822743	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3774600	chr3:53822762-53822763	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563122240	chr3:53822790-53822791	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576515375	chr3:53822846-53822847	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138806896	chr3:53822892-53822893	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3774601	chr3:53822893-53822894	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs61616709	chr3:53822913-53822914	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs71617779	chr3:53822937-53822938	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565709808	chr3:53822961-53822962	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113929115	chr3:53822993-53822994	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560155572	chr3:53823047-53823048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374635470	chr3:53823060-53823061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3774602	chr3:53823098-53823099	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs548959346	chr3:53823107-53823108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569041810	chr3:53823136-53823137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141476836	chr3:53823168-53823169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3774603	chr3:53823236-53823237	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs137930627	chr3:53823246-53823247	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575819065	chr3:53823255-53823256	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533969221	chr3:53823298-53823299	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562356306	chr3:53823348-53823349	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6775991	chr3:53823372-53823373	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536958018	chr3:53823376-53823377	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573548143	chr3:53823379-53823380	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187993735	chr3:53823387-53823388	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536821613	chr3:53823430-53823431	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555145177	chr3:53823466-53823467	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576618920	chr3:53823512-53823513	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35472605	chr3:53823572-53823573	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545270053	chr3:53823601-53823602	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:737 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53807600-53829800	Weak transcription	Brain Angular Gyrus	brain
2	chr3:53808200-53827800	Strong transcription	Fetal Intestine Small	intestine
3	chr3:53808800-53830200	Weak transcription	Pancreas	Pancrea
4	chr3:53809400-53824400	Strong transcription	Fetal Intestine Large	intestine
5	chr3:53811400-53838600	Weak transcription	Spleen	Spleen
6	chr3:53811600-53843600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:53815200-53829000	Weak transcription	Brain Anterior Caudate	brain
8	chr3:53815200-53829400	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:53815400-53829800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:53816600-53822800	Strong transcription	Fetal Lung	lung
11	chr3:53818200-53826800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:53819600-53830000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:53821600-53822800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:53822000-53822400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:53822200-53822800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:53822400-53822800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:53822400-53823000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:53822600-53822800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:53822800-53823200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr3:53822800-53823400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:53822800-53828200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:53822800-53828800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr3:53822800-53832000	Weak transcription	Fetal Lung	lung
24	chr3:53823000-53823600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:53823200-53823800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr3:53823400-53824000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr3:53823600-53823800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:53823800-53832200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr3:53824000-53828800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:53824400-53827600	Enhancers	Fetal Thymus	thymus
31	chr3:53824400-53832000	Weak transcription	Fetal Intestine Large	intestine
32	chr3:53825600-53825800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr3:53825600-53826000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:53825800-53828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr3:53826000-53828800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:53826800-53827200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:53827000-53827200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:53827000-53827200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:53827200-53828800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:53827200-53830200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:53827800-53832200	Weak transcription	Fetal Intestine Small	intestine
42	chr3:53828000-53830400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:53828200-53829800	Enhancers	NHDF-Ad	bronchial
44	chr3:53828200-53830200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:53828200-53830400	Enhancers	HMEC	breast
46	chr3:53828200-53830600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:53828200-53830600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:53828200-53830600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:53828400-53829200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr3:53828400-53829400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links