Variant report

Variant	nsv470544
Chromosome Location	chr20:23424638-23569400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:960)
CpG islands
(count:2139)
Chromatin interactive
region (count:34)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:960 , 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	chr20:23550890-23551138	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:23426293-23426601	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:23566494-23567822	HepG2	liver:	n/a	n/a
4	ARID3A	chr20:23488216-23488283	HepG2	liver:	n/a	n/a
5	ATF2	chr20:23513756-23514081	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr20:23507823-23507979	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr20:23440154-23440332	GM12878	blood:	n/a	chr20:23440243-23440254
8	BATF	chr20:23495900-23496255	GM12878	blood:	n/a	n/a
9	BATF	chr20:23511849-23512071	GM12878	blood:	n/a	n/a
10	BATF	chr20:23478200-23478493	GM12878	blood:	n/a	n/a
11	BATF	chr20:23509691-23510055	GM12878	blood:	n/a	chr20:23509889-23509900 chr20:23509906-23509917
12	BATF	chr20:23495915-23496215	GM12878	blood:	n/a	n/a
13	BCL11A	chr20:23513851-23514075	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL11A	chr20:23513761-23514166	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL3	chr20:23506840-23507065	GM12878	blood:	n/a	n/a
16	BCL3	chr20:23425339-23425976	GM12878	blood:	n/a	n/a
17	BCL3	chr20:23425378-23425971	GM12878	blood:	n/a	n/a
18	BCL3	chr20:23456780-23457368	GM12878	blood:	n/a	n/a
19	BCL3	chr20:23516024-23516292	GM12878	blood:	n/a	n/a
20	BCL3	chr20:23456839-23457441	GM12878	blood:	n/a	n/a
21	BHLHE40	chr20:23426259-23426863	HepG2	liver:	n/a	n/a
22	BHLHE40	chr20:23426616-23426748	K562	blood:	n/a	n/a
23	BHLHE40	chr20:23427237-23427550	HepG2	liver:	n/a	n/a
24	BHLHE40	chr20:23427279-23427535	GM12878	blood:	n/a	n/a
25	BHLHE40	chr20:23567164-23567983	HepG2	liver:	n/a	n/a
26	BHLHE40	chr20:23427304-23427533	K562	blood:	n/a	n/a
27	BRCA1	chr20:23454055-23454315	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr20:23510630-23510647	GM12878	blood:	n/a	n/a
29	BRCA1	chr20:23566711-23566753	HepG2	liver:	n/a	n/a
30	BRCA1	chr20:23523709-23523728	GM12878	blood:	n/a	n/a
31	CEBPB	chr20:23538255-23538343	HepG2	liver:	n/a	n/a
32	CEBPB	chr20:23567530-23568012	HepG2	liver:	n/a	n/a
33	CEBPB	chr20:23495956-23496320	MCF-7	breast:	n/a	n/a
34	CEBPB	chr20:23427310-23427618	HepG2	liver:	n/a	n/a
35	CEBPB	chr20:23550852-23551260	HepG2	liver:	n/a	chr20:23551082-23551095 chr20:23551055-23551066 chr20:23551055-23551066
36	CEBPB	chr20:23427290-23427623	K562	blood:	n/a	n/a
37	CEBPB	chr20:23473560-23473660	HepG2	liver:	n/a	chr20:23473570-23473581 chr20:23473570-23473583 chr20:23473570-23473583
38	CEBPB	chr20:23425753-23426005	HepG2	liver:	n/a	chr20:23425924-23425935
39	CEBPB	chr20:23474055-23474238	HepG2	liver:	n/a	chr20:23474176-23474187
40	CEBPB	chr20:23474028-23474386	MCF-7	breast:	n/a	chr20:23474176-23474187
41	CEBPB	chr20:23427329-23427625	A549	lung:	n/a	n/a
42	CEBPB	chr20:23523481-23523817	A549	lung:	n/a	chr20:23523648-23523659 chr20:23523647-23523658 chr20:23523649-23523658
43	CEBPB	chr20:23550852-23551205	MCF-7	breast:	n/a	chr20:23551082-23551095 chr20:23551055-23551066 chr20:23551055-23551066
44	CEBPB	chr20:23427356-23427527	HepG2	liver:	n/a	n/a
45	CEBPB	chr20:23489894-23490054	HepG2	liver:	n/a	n/a
46	CEBPB	chr20:23498469-23498679	A549	lung:	n/a	chr20:23498501-23498510 chr20:23498499-23498512 chr20:23498500-23498511
47	CEBPB	chr20:23471614-23471730	HepG2	liver:	n/a	n/a
48	CEBPB	chr20:23427308-23427620	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr20:23425743-23426489	IMR90	lung:	n/a	chr20:23425924-23425935
50	CEBPB	chr20:23515699-23515853	HepG2	liver:	n/a	n/a

(count:2139 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23498993-23499043	HUVEC	blood vessel:	n/a
2	chr20:23499697-23499747	MCF10A-Er-Src	breast:	n/a
3	chr20:23471711-23471761	IMR90	lung:	fetal
4	chr20:23500381-23500431	PrEC	prostate:	n/a
5	chr20:23498993-23499043	HUVEC	blood vessel:	n/a
6	chr20:23499697-23499747	MCF10A-Er-Src	breast:	n/a
7	chr20:23471711-23471761	IMR90	lung:	fetal
8	chr20:23500381-23500431	PrEC	prostate:	n/a
9	chr20:23472484-23472534	AG09319	gingival:	n/a
10	chr20:23498941-23498991	HRPEpiC	eye:	n/a
11	chr20:23470274-23470324	A549	lung:	n/a
12	chr20:23472171-23472221	HNPCEpiC	eye:	n/a
13	chr20:23471969-23472019	MCF10A-Er-Src	breast:	n/a
14	chr20:23471969-23472019	HCF	heart:	n/a
15	chr20:23433503-23433553	AG09309	skin:	n/a
16	chr20:23550632-23550682	RPTEC	kidney:	n/a
17	chr20:23471693-23471743	PrEC	prostate:	n/a
18	chr20:23472171-23472221	SK-N-SH	brain:	n/a
19	chr20:23550446-23550496	HIPEpiC	eye:	n/a
20	chr20:23550668-23550718	HEEpiC	esophagus:	n/a
21	chr20:23498937-23498987	HIPEpiC	eye:	n/a
22	chr20:23433608-23433658	ovcar-3	ovarian:	n/a
23	chr20:23549455-23549505	HCPEpiC	choroid plexus:	n/a
24	chr20:23434244-23434294	Caco-2	colon:	n/a
25	chr20:23470274-23470324	AG09319	gingival:	n/a
26	chr20:23472484-23472534	Caco-2	colon:	n/a
27	chr20:23550632-23550682	HRPEpiC	eye:	n/a
28	chr20:23434244-23434294	CMK	blood:	n/a
29	chr20:23498937-23498987	IMR90	lung:	fetal
30	chr20:23471627-23471677	Hela-S3	cervix:	n/a
31	chr20:23470461-23470511	HCF	heart:	n/a
32	chr20:23550632-23550682	HCM	heart:	n/a
33	chr20:23500381-23500431	PANC-1	pancreas:	n/a
34	chr20:23498937-23498987	Caco-2	colon:	n/a
35	chr20:23549106-23549156	HMEC	breast:	n/a
36	chr20:23550446-23550496	NB4	blood:	n/a
37	chr20:23498937-23498987	BE2_C	brain:	n/a
38	chr20:23470461-23470511	NHBE	bronchial:	n/a
39	chr20:23499644-23499694	SAEC	small airway:	n/a
40	chr20:23498941-23498991	PFSK-1	brain:	n/a
41	chr20:23550668-23550718	AG04449	skin:	fetal
42	chr20:23545539-23545589	Hela-S3	cervix:	n/a
43	chr20:23471693-23471743	Jurkat	blood:	n/a
44	chr20:23472171-23472221	Hela-S3	cervix:	n/a
45	chr20:23434279-23434329	HCM	heart:	n/a
46	chr20:23471711-23471761	HNPCEpiC	eye:	n/a
47	chr20:23434244-23434294	HMEC	breast:	n/a
48	chr20:23550446-23550496	ECC-1	luminal epithelium:	n/a
49	chr20:23471693-23471743	NB4	blood:	n/a
50	chr20:23549467-23549517	IMR90	lung:	fetal

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23494582..23497425-chr20:23497787..23500282,2	MCF-7	breast:
2	chr20:23460080..23462432-chr20:23464977..23467863,2	K562	blood:
3	chr20:23482103..23484253-chr20:23488282..23490217,2	MCF-7	breast:
4	chr20:23435629..23437264-chr20:23438674..23441153,2	MCF-7	breast:
5	chr20:23428863..23430535-chr20:23433558..23435826,2	K562	blood:
6	chr20:23568486..23570139-chr9:92478980..92480480,2	MCF-7	breast:
7	chr20:23461901..23463918-chr20:23618342..23620994,2	MCF-7	breast:
8	chr20:23426981..23427599-chr20:23487754..23488340,2	MCF-7	breast:
9	chr20:23427640..23430149-chr20:23434541..23436355,2	MCF-7	breast:
10	chr20:23429806..23432217-chr20:23436004..23438997,2	K562	blood:
11	chr20:23495614..23498073-chr20:23499354..23501428,2	MCF-7	breast:
12	chr20:23340941..23343437-chr20:23505184..23507656,2	MCF-7	breast:
13	chr20:23422166..23423021-chr20:23565222..23566039,3	MCF-7	breast:
14	chr20:23329684..23331925-chr20:23566520..23568100,2	MCF-7	breast:
15	chr20:23430353..23432292-chr20:23432999..23435596,2	MCF-7	breast:
16	chr20:23562870..23565685-chr20:23566645..23569407,3	K562	blood:
17	chr20:23428863..23430535-chr20:23433558..23435826,2	K562	blood:
18	chr20:23435629..23437264-chr20:23438674..23441153,2	MCF-7	breast:
19	chr20:23486686..23489080-chr20:23489324..23491431,2	MCF-7	breast:
20	chr20:23459835..23462068-chr20:23463876..23466517,2	MCF-7	breast:
21	chr20:23330412..23330928-chr20:23426987..23427635,2	MCF-7	breast:
22	chr20:23422153..23424654-chr20:23586384..23588911,4	MCF-7	breast:
23	chr20:23482103..23484253-chr20:23488282..23490217,2	MCF-7	breast:
24	chr20:23547114..23549526-chr20:23565217..23567174,2	MCF-7	breast:
25	chr20:23426981..23427599-chr20:23487754..23488340,2	MCF-7	breast:
26	chr20:23434496..23436579-chr20:23437423..23440853,3	K562	blood:
27	chr20:23427640..23430149-chr20:23434541..23436355,2	MCF-7	breast:
28	chr20:23454015..23456705-chr20:23459387..23462774,3	MCF-7	breast:
29	chr20:23460080..23462432-chr20:23464977..23467863,2	K562	blood:
30	chr20:23459835..23462068-chr20:23463876..23466517,2	MCF-7	breast:
31	chr20:23342324..23344912-chr20:23496142..23497648,2	MCF-7	breast:
32	chr20:23330602..23332708-chr20:23549852..23552530,2	MCF-7	breast:
33	chr20:23486686..23489080-chr20:23489324..23491431,2	MCF-7	breast:
34	chr20:23426997..23427916-chr20:23586801..23588394,7	MCF-7	breast:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CST8-1	chr20:23487412-23487749	XLOC_013490
2	lnc-CST8-2	chr20:23499763-23500121	NONHSAT079074
3	lnc-CST8-1	chr20:23484643-23484689	XLOC_013490
4	lnc-CST8-1	chr20:23487412-23487716	NONHSAT079064
5	lnc-CST9LP1-2	chr20:23498840-23499170	NONHSAT079070
6	lnc-CST8-1	chr20:23484350-23484430	XLOC_013490
7	lnc-CST9LP1-1	chr20:23497521-23498706	ENSG00000260202.1
8	lnc-CST8-2	chr20:23514835-23514945	NONHSAT079074
9	lnc-CST9LP1-2	chr20:23499254-23499667	XLOC_013694
10	lnc-CST8-2	chr20:23517371-23517422	NONHSAT079074
11	lnc-CST9LP1-2	chr20:23499253-23499667	NONHSAT079070
12	lnc-CST9LP1-2	chr20:23495374-23495498	XLOC_013694
13	lnc-CST8-1	chr20:23484642-23484689	NONHSAT079066
14	lnc-CST8-1	chr20:23487411-23487749	NONHSAT079066
15	lnc-CST9LP1-2	chr20:23498841-23499170	XLOC_013694
16	lnc-CST9LP1-2	chr20:23499254-23499661	XLOC_013694
17	lnc-CST8-1	chr20:23487412-23487749	XLOC_013490
18	lnc-CST8-1	chr20:23484305-23484689	NONHSAT079064

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CST9L	hsa-miR-132-3p	chr20:23545479-23545501

Variant related genes	Relation type
ENSG00000200208	TF binding region
ENSG00000260202	TF binding region
CST9LP1	TF binding region
CST8	TF binding region
CST13P	TF binding region
ENSG00000204658	TF binding region
CST11	TF binding region
CST9L	TF binding region
CST12P	TF binding region
ENSG00000200208	CpG island
ENSG00000260202	CpG island
CST9LP1	CpG island
CST8	CpG island
CST13P	CpG island
ENSG00000204658	CpG island
CST11	CpG island
CST9L	CpG island
CST12P	CpG island
ENSG00000226344	chromatin interactions
ENSG00000204663	chromatin interactions
ENSG00000125831	chromatin interactions
ENSG00000260202	chromatin interactions
ENSG00000173335	chromatin interactions
ENSG00000204658	chromatin interactions
ENSG00000125812	chromatin interactions
ENSG00000101435	chromatin interactions
ENSG00000132661	chromatin interactions
ENSG00000200208	chromatin interactions
ENSG00000101439	chromatin interactions
ENSG00000234832	chromatin interactions
LPGAT1	miRNA target sites

Extended variants
information (count: 6330 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:6330 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3746737	chr20:23424638-23424639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs151114691	chr20:23424644-23424645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140956112	chr20:23424657-23424658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12625959	chr20:23424660-23424661	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs200792247	chr20:23424681-23424682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78807201	chr20:23424683-23424684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538567116	chr20:23424697-23424698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368644310	chr20:23424719-23424720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111691560	chr20:23424741-23424742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373969183	chr20:23424786-23424787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558674168	chr20:23424818-23424819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575110917	chr20:23424853-23424854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544034978	chr20:23424862-23424863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201044143	chr20:23424867-23424868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6083127	chr20:23424886-23424887	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs186867315	chr20:23424930-23424931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191348636	chr20:23424934-23424935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372347562	chr20:23424936-23424937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559901118	chr20:23424937-23424938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75444711	chr20:23424956-23424957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12624341	chr20:23425000-23425001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs546201523	chr20:23425008-23425009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6048798	chr20:23425053-23425054	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531925565	chr20:23425059-23425060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548829770	chr20:23425116-23425117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559002611	chr20:23425138-23425139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2277765	chr20:23425163-23425164	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2277766	chr20:23425184-23425185	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs57896475	chr20:23425264-23425265	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs538899863	chr20:23425341-23425342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372307650	chr20:23425359-23425360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558553741	chr20:23425380-23425381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200735623	chr20:23425419-23425420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199762402	chr20:23425420-23425421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145690451	chr20:23425440-23425441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142364630	chr20:23425447-23425448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs267605857	chr20:23425458-23425459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76182203	chr20:23425489-23425490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201842574	chr20:23425496-23425497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374708502	chr20:23425528-23425529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113992260	chr20:23425533-23425534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372757441	chr20:23425543-23425544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370062495	chr20:23425548-23425549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146845502	chr20:23425559-23425560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373376903	chr20:23425579-23425580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182800490	chr20:23425630-23425631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576856502	chr20:23425631-23425632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542434353	chr20:23425647-23425648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139725510	chr20:23425660-23425661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535107480	chr20:23425680-23425681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23417200-23434800	Weak transcription	Gastric	stomach
2	chr20:23417800-23441000	Weak transcription	Right Atrium	heart
3	chr20:23421200-23427200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr20:23422400-23426400	Enhancers	Fetal Thymus	thymus
5	chr20:23423000-23432200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr20:23423200-23426000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr20:23423400-23426000	Weak transcription	NHDF-Ad	bronchial
8	chr20:23423600-23426400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:23423800-23426800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr20:23423800-23432200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:23425000-23426200	Enhancers	HSMMtube	muscle
12	chr20:23425600-23426800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:23425600-23427000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:23426000-23426800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr20:23426000-23426800	Enhancers	NHDF-Ad	bronchial
16	chr20:23426000-23426800	Enhancers	NHLF	lung
17	chr20:23426000-23426800	Enhancers	Osteobl	bone
18	chr20:23426000-23427000	Enhancers	NHEK	skin
19	chr20:23426000-23427200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr20:23426000-23427400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr20:23426000-23427600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr20:23426000-23427600	Enhancers	HMEC	breast
23	chr20:23426000-23427600	Enhancers	NH-A	brain
24	chr20:23426200-23426800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr20:23426200-23427000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr20:23426200-23427600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr20:23426200-23427800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr20:23426400-23427000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr20:23426400-23427400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr20:23426400-23427400	Enhancers	HepG2	liver
31	chr20:23426400-23427400	Enhancers	HSMM	muscle
32	chr20:23426400-23427600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr20:23426400-23427600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr20:23426400-23427600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr20:23426400-23429600	Weak transcription	Fetal Thymus	thymus
36	chr20:23426800-23427200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr20:23427200-23427400	Enhancers	Brain Anterior Caudate	brain
38	chr20:23427200-23427400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr20:23427200-23427800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr20:23427200-23427800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr20:23427600-23429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr20:23427800-23428800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr20:23427800-23431600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr20:23429600-23431200	Enhancers	Fetal Thymus	thymus
45	chr20:23429800-23430000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr20:23429800-23430400	Enhancers	GM12878-XiMat	blood
47	chr20:23429800-23430600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr20:23429800-23430600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr20:23429800-23430600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr20:23429800-23430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links