Variant report

Variant	nsv587730
Chromosome Location	chr21:45619367-45627976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:591)
CpG islands
(count:549)
Chromatin interactive
region (count:25)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr21:45627754-45628197	K562	blood:	n/a	n/a
2	ATF1	chr21:45622503-45622974	K562	blood:	n/a	n/a
3	ATF2	chr21:45626343-45627633	GM12878	blood:	n/a	n/a
4	ATF2	chr21:45626321-45628146	GM12878	blood:	n/a	n/a
5	ATF3	chr21:45622485-45622869	K562	blood:	n/a	n/a
6	ATF3	chr21:45627837-45628247	K562	blood:	n/a	n/a
7	BATF	chr21:45623272-45623610	GM12878	blood:	n/a	n/a
8	BATF	chr21:45626310-45627816	GM12878	blood:	n/a	chr21:45627643-45627653
9	BCL11A	chr21:45626541-45627764	GM12878	blood:	n/a	chr21:45627372-45627381
10	BCL11A	chr21:45626591-45627579	GM12878	blood:	n/a	chr21:45627372-45627381
11	BCL3	chr21:45626610-45627534	GM12878	blood:	n/a	chr21:45627372-45627381
12	BCLAF1	chr21:45626458-45628055	GM12878	blood:	n/a	chr21:45627372-45627381
13	BCLAF1	chr21:45626329-45628360	GM12878	blood:	n/a	chr21:45627372-45627381
14	BHLHE40	chr21:45625372-45625609	K562	blood:	n/a	n/a
15	BHLHE40	chr21:45622180-45622754	K562	blood:	n/a	chr21:45622610-45622626
16	BHLHE40	chr21:45627566-45628378	K562	blood:	n/a	n/a
17	BHLHE40	chr21:45626173-45628119	GM12878	blood:	n/a	chr21:45626334-45626350
18	BRCA1	chr21:45626876-45627237	GM12878	blood:	n/a	n/a
19	CCNT2	chr21:45626872-45627117	K562	blood:	n/a	n/a
20	CCNT2	chr21:45622415-45622989	K562	blood:	n/a	n/a
21	CCNT2	chr21:45627659-45628192	K562	blood:	n/a	n/a
22	CCNT2	chr21:45625404-45625479	K562	blood:	n/a	n/a
23	CEBPB	chr21:45622529-45622896	H1-hESC	embryonic stem cell:	n/a	chr21:45622707-45622718
24	CEBPB	chr21:45622516-45622927	Hela-S3	cervix:	n/a	chr21:45622707-45622718
25	CEBPB	chr21:45622518-45622870	K562	blood:	n/a	chr21:45622707-45622718
26	CEBPB	chr21:45626282-45626882	MCF-7	breast:	n/a	chr21:45626598-45626609
27	CEBPB	chr21:45622535-45622877	HepG2	liver:	n/a	chr21:45622707-45622718
28	CEBPB	chr21:45622427-45623040	MCF-7	breast:	n/a	chr21:45622707-45622718
29	CEBPB	chr21:45624691-45624988	H1-hESC	embryonic stem cell:	n/a	chr21:45624810-45624821 chr21:45624807-45624824
30	CEBPB	chr21:45627914-45628489	IMR90	lung:	n/a	n/a
31	CEBPB	chr21:45619441-45619519	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr21:45626522-45626695	K562	blood:	n/a	chr21:45626598-45626609
33	CEBPB	chr21:45624685-45624878	K562	blood:	n/a	chr21:45624810-45624821 chr21:45624807-45624824
34	CEBPB	chr21:45626470-45626769	Hela-S3	cervix:	n/a	chr21:45626598-45626609
35	CEBPB	chr21:45622525-45622899	K562	blood:	n/a	chr21:45622707-45622718
36	CEBPB	chr21:45622544-45622829	K562	blood:	n/a	chr21:45622707-45622718
37	CEBPB	chr21:45626550-45626764	K562	blood:	n/a	chr21:45626598-45626609
38	CEBPB	chr21:45627260-45627583	GM12878	blood:	n/a	n/a
39	CEBPB	chr21:45626140-45627182	MCF-7	breast:	n/a	chr21:45626598-45626609
40	CEBPB	chr21:45627524-45628287	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr21:45622519-45622908	IMR90	lung:	n/a	chr21:45622707-45622718
42	CEBPB	chr21:45626321-45628270	GM12878	blood:	n/a	chr21:45626598-45626609
43	CEBPB	chr21:45626474-45626673	HepG2	liver:	n/a	chr21:45626598-45626609
44	CEBPB	chr21:45622637-45622757	HepG2	liver:	n/a	chr21:45622707-45622718
45	CEBPB	chr21:45622576-45622838	A549	lung:	n/a	chr21:45622707-45622718
46	CEBPB	chr21:45622344-45623035	MCF-7	breast:	n/a	chr21:45622707-45622718
47	CEBPB	chr21:45626129-45626773	IMR90	lung:	n/a	chr21:45626598-45626609
48	CEBPB	chr21:45624746-45624931	HepG2	liver:	n/a	chr21:45624810-45624821 chr21:45624807-45624824
49	CEBPD	chr21:45625350-45625686	K562	blood:	n/a	n/a
50	CHD1	chr21:45626187-45628235	GM12878	blood:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45622373-45622423	GM19239	blood:	n/a
2	chr21:45622493-45622543	HCPEpiC	choroid plexus:	n/a
3	chr21:45622096-45622146	SK-N-SH	brain:	n/a
4	chr21:45622373-45622423	PFSK-1	brain:	n/a
5	chr21:45623005-45623055	GM12891	blood:	n/a
6	chr21:45622373-45622423	HCT-116	colon:	n/a
7	chr21:45622122-45622172	NH-A	brain:	n/a
8	chr21:45622493-45622543	GM19239	blood:	n/a
9	chr21:45622122-45622172	HIPEpiC	eye:	n/a
10	chr21:45624178-45624228	HCM	heart:	n/a
11	chr21:45622096-45622146	RPTEC	kidney:	n/a
12	chr21:45622373-45622423	AG10803	skin:	n/a
13	chr21:45622096-45622146	IMR90	lung:	fetal
14	chr21:45622219-45622269	SAEC	small airway:	n/a
15	chr21:45622219-45622269	AG04449	skin:	fetal
16	chr21:45622493-45622543	HEK293	kidney:	embryo
17	chr21:45623005-45623055	HRE	kidney:	n/a
18	chr21:45622493-45622543	IMR90	lung:	fetal
19	chr21:45626491-45626541	AG09309	skin:	n/a
20	chr21:45622096-45622146	Hela-S3	cervix:	n/a
21	chr21:45622122-45622172	AG09319	gingival:	n/a
22	chr21:45622373-45622423	LNCaP	prostate:	n/a
23	chr21:45619449-45619499	AoSMC	blood vessel:	n/a
24	chr21:45622219-45622269	LNCaP	prostate:	n/a
25	chr21:45622096-45622146	PrEC	prostate:	n/a
26	chr21:45624178-45624228	NHDF-neo	bronchial:	n/a
27	chr21:45624178-45624228	HPAEpiC	pulmonary alveolar:	n/a
28	chr21:45622122-45622172	HCPEpiC	choroid plexus:	n/a
29	chr21:45624178-45624228	ECC-1	luminal epithelium:	n/a
30	chr21:45619449-45619499	GM12878	blood:	n/a
31	chr21:45622096-45622146	AoSMC	blood vessel:	n/a
32	chr21:45624178-45624228	AG09319	gingival:	n/a
33	chr21:45622096-45622146	BJ	skin:	n/a
34	chr21:45622122-45622172	AG04449	skin:	fetal
35	chr21:45622122-45622172	HPAEpiC	pulmonary alveolar:	n/a
36	chr21:45622373-45622423	ECC-1	luminal epithelium:	n/a
37	chr21:45624178-45624228	HAEpiC	amniotic membrane:	n/a
38	chr21:45626491-45626541	PANC-1	pancreas:	n/a
39	chr21:45622122-45622172	NB4	blood:	n/a
40	chr21:45622122-45622172	GM12891	blood:	n/a
41	chr21:45624178-45624228	ProgFib	skin:	n/a
42	chr21:45619449-45619499	HRCEpiC	kidney:	n/a
43	chr21:45624178-45624228	HMEC	breast:	n/a
44	chr21:45624178-45624228	SAEC	small airway:	n/a
45	chr21:45622219-45622269	HEK293	kidney:	embryo
46	chr21:45624178-45624228	HCPEpiC	choroid plexus:	n/a
47	chr21:45619449-45619499	HAEpiC	amniotic membrane:	n/a
48	chr21:45623005-45623055	IMR90	lung:	fetal
49	chr21:45624178-45624228	HCF	heart:	n/a
50	chr21:45623005-45623055	AG04450	lung:	fetal

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45621565..45624005-chr21:45712576..45714212,3	MCF-7	breast:
2	chr21:45624595..45626687-chr21:45758161..45760406,2	MCF-7	breast:
3	chr21:45620311..45631567-chr21:45651002..45670824,52	MCF-7	breast:
4	chr21:45577492..45580364-chr21:45620942..45622616,2	K562	blood:
5	chr21:45620341..45625358-chr21:45718389..45721509,5	MCF-7	breast:
6	chr21:45621014..45626357-chr21:45626432..45630019,5	K562	blood:
7	chr21:45612993..45620081-chr21:45620303..45625017,17	MCF-7	breast:
8	chr21:45622629..45624491-chr21:45663848..45665509,2	MCF-7	breast:
9	chr21:45622485..45624278-chr21:45668242..45670471,2	MCF-7	breast:
10	chr21:45621411..45624934-chr21:45718058..45721352,4	MCF-7	breast:
11	chr21:45555886..45558409-chr21:45626511..45629056,2	MCF-7	breast:
12	chr21:45621014..45624737-chr21:45625090..45629806,7	K562	blood:
13	chr21:45625593..45629065-chr21:45717787..45720760,5	MCF-7	breast:
14	chr21:45588739..45594310-chr21:45621185..45624296,6	MCF-7	breast:
15	chr21:45593462..45595365-chr21:45624116..45626605,2	K562	blood:
16	chr21:45590531..45598113-chr21:45625237..45630055,9	MCF-7	breast:
17	chr21:45621014..45626357-chr21:45626432..45630019,5	K562	blood:
18	chr21:45619816..45631884-chr21:45656529..45663802,30	MCF-7	breast:
19	chr21:45552930..45554458-chr21:45622046..45624839,2	MCF-7	breast:
20	chr21:45613209..45613813-chr21:45623826..45624382,2	NB4	blood:
21	chr21:45580625..45582180-chr21:45622469..45623971,2	MCF-7	breast:
22	chr21:45620857..45623394-chr21:45709649..45711804,3	MCF-7	breast:
23	chr21:45621786..45624650-chr21:45632661..45635247,3	MCF-7	breast:
24	chr21:45621014..45624737-chr21:45625090..45629806,7	K562	blood:
25	chr2:85664771..85665446-chr21:45627770..45628304,2	Hela-S3	cervix:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ICOSLG-2	chr21:45619132-45620582	XLOC_014114
2	lnc-ICOSLG-7	chr21:45622544-45622770	NONHSAT082495
3	lnc-ICOSLG-1	chr21:45621679-45621840	NONHSAT082494
4	lnc-ICOSLG-1	chr21:45627086-45627280	NONHSAT082494
5	lnc-ICOSLG-2	chr21:45620693-45621216	XLOC_014114
6	lnc-ICOSLG-1	chr21:45626412-45626714	NONHSAT082494
7	lnc-ICOSLG-1	chr21:45626408-45626673	XLOC_014115
8	lnc-C21orf33-2	chr21:45621173-45621840	XLOC_013967
9	lnc-ICOSLG-1	chr21:45627086-45627282	XLOC_014115
10	lnc-C21orf33-2	chr21:45622449-45622579	XLOC_013967
11	lnc-ICOSLG-7	chr21:45623876-45623967	NONHSAT082495

No data

Variant related genes	Relation type
ENSG00000232124	TF binding region
ENSG00000232698	TF binding region
ENSG00000232124	CpG island
ENSG00000232698	CpG island
ENSG00000267913	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000160224	chromatin interactions
ENSG00000232124	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000232010	chromatin interactions
ENSG00000160223	chromatin interactions
ENSG00000237604	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000232698	chromatin interactions
ENSG00000225331	chromatin interactions
ENSG00000232969	chromatin interactions
PDPR	miRNA target sites
PDPK1	miRNA target sites

Extended variants
information (count: 415 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12483372	chr21:45619367-45619368	Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529208153	chr21:45619395-45619396	Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs553442652	chr21:45619415-45619416	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs114550110	chr21:45619420-45619421	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs374002388	chr21:45619430-45619431	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs114638073	chr21:45619433-45619434	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs548869514	chr21:45619444-45619445	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs372351934	chr21:45619475-45619476	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs566552566	chr21:45619482-45619483	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs534416211	chr21:45619504-45619505	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs73907113	chr21:45619519-45619520	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs13050639	chr21:45619607-45619608	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs577476320	chr21:45619624-45619625	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs538202918	chr21:45619628-45619629	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs186446766	chr21:45619646-45619647	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs569530423	chr21:45619679-45619680	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs574527308	chr21:45619685-45619686	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs541799778	chr21:45619699-45619700	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs189728052	chr21:45619807-45619808	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs572171017	chr21:45619899-45619900	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs374210128	chr21:45619938-45619939	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs140472655	chr21:45619958-45619959	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs532335018	chr21:45619973-45619974	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs370816887	chr21:45619979-45619980	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs180921134	chr21:45619983-45619984	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs562758707	chr21:45620079-45620080	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs199541916	chr21:45620082-45620083	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs62228209	chr21:45620087-45620088	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552063411	chr21:45620130-45620131	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs575362347	chr21:45620158-45620159	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs548181247	chr21:45620185-45620186	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs550332520	chr21:45620209-45620210	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs58161475	chr21:45620223-45620224	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs55893906	chr21:45620265-45620266	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs527356298	chr21:45620269-45620270	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs552742786	chr21:45620357-45620358	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs570996897	chr21:45620367-45620368	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs138252341	chr21:45620382-45620383	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs200211056	chr21:45620422-45620423	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs186282455	chr21:45620452-45620453	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs77437029	chr21:45620476-45620477	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs568385430	chr21:45620535-45620536	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs554249561	chr21:45620636-45620637	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs553706424	chr21:45620642-45620643	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs149620322	chr21:45620701-45620702	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs546029672	chr21:45620706-45620707	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs558224957	chr21:45620727-45620728	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs577001658	chr21:45620765-45620766	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs544376364	chr21:45620773-45620774	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs562793073	chr21:45620792-45620793	Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Down syndrome	21154855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45614800-45622400	Weak transcription	Pancreas	Pancrea
2	chr21:45615000-45623200	Weak transcription	Brain Hippocampus Middle	brain
3	chr21:45615400-45622200	Weak transcription	Fetal Lung	lung
4	chr21:45616600-45619400	Weak transcription	Stomach Mucosa	stomach
5	chr21:45616600-45622000	Weak transcription	Lung	lung
6	chr21:45616600-45622200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:45616600-45622200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr21:45616800-45621600	Weak transcription	Esophagus	oesophagus
9	chr21:45616800-45622000	Weak transcription	Left Ventricle	heart
10	chr21:45616800-45622200	Weak transcription	Fetal Intestine Small	intestine
11	chr21:45616800-45622200	Weak transcription	Spleen	Spleen
12	chr21:45616800-45626600	Weak transcription	Thymus	Thymus
13	chr21:45617000-45622400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr21:45617000-45626000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr21:45617200-45619400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:45617200-45622200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr21:45617200-45622600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:45617200-45623200	Weak transcription	GM12878-XiMat	blood
19	chr21:45617200-45624000	Weak transcription	Gastric	stomach
20	chr21:45617200-45626200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr21:45617400-45622400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr21:45617400-45622400	Weak transcription	Right Atrium	heart
23	chr21:45617400-45622600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr21:45617400-45622600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr21:45617400-45622600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr21:45617400-45622600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:45617400-45624200	Weak transcription	Brain Substantia Nigra	brain
28	chr21:45617400-45624200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr21:45617400-45626000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr21:45617600-45622000	Weak transcription	Right Ventricle	heart
31	chr21:45617600-45622200	Weak transcription	Primary B cells from cord blood	blood
32	chr21:45617600-45622200	Weak transcription	K562	blood
33	chr21:45617600-45622400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr21:45618000-45622000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr21:45618000-45622000	Weak transcription	Fetal Muscle Leg	muscle
36	chr21:45619400-45619800	Enhancers	Stomach Mucosa	stomach
37	chr21:45619400-45620000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr21:45619600-45620000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr21:45619800-45620000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr21:45619800-45623400	Weak transcription	Stomach Mucosa	stomach
41	chr21:45620000-45622000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr21:45620000-45623600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr21:45620200-45622000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr21:45620400-45622800	Weak transcription	Brain Anterior Caudate	brain
45	chr21:45621200-45622200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr21:45621400-45622200	Enhancers	Placenta	Placenta
47	chr21:45621600-45623000	Enhancers	Esophagus	oesophagus
48	chr21:45622000-45622200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr21:45622000-45622200	Enhancers	Left Ventricle	heart
50	chr21:45622000-45622200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links