Variant report

Variant	nsv470908
Chromosome Location	chr21:46298869-46335580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1587)
CpG islands
(count:1404)
Chromatin interactive
region (count:106)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1587 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46298661-46299094	K562	blood:	n/a	n/a
2	ARID3A	chr21:46300347-46300358	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:46333102-46333134	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:46334088-46334336	HepG2	liver:	n/a	n/a
5	ARID3A	chr21:46331640-46331849	HepG2	liver:	n/a	n/a
6	ARID3A	chr21:46332421-46332738	HepG2	liver:	n/a	n/a
7	ARID3A	chr21:46333619-46333797	HepG2	liver:	n/a	n/a
8	ARID3A	chr21:46300751-46301158	K562	blood:	n/a	n/a
9	ARID3A	chr21:46300636-46301447	HepG2	liver:	n/a	n/a
10	ARID3A	chr21:46297883-46299174	HepG2	liver:	n/a	n/a
11	ATF1	chr21:46300774-46301448	K562	blood:	n/a	n/a
12	ATF1	chr21:46298620-46299000	K562	blood:	n/a	n/a
13	ATF3	chr21:46298541-46298990	K562	blood:	n/a	n/a
14	ATF3	chr21:46334050-46334331	HepG2	liver:	n/a	n/a
15	BACH1	chr21:46312701-46312873	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr21:46315890-46316152	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr21:46300846-46301135	GM12878	blood:	n/a	n/a
18	BATF	chr21:46300837-46301167	GM12878	blood:	n/a	n/a
19	BATF	chr21:46312714-46312963	GM12878	blood:	n/a	n/a
20	BCL11A	chr21:46332684-46333082	GM12878	blood:	n/a	n/a
21	BCL3	chr21:46321595-46322933	GM12878	blood:	n/a	n/a
22	BCL3	chr21:46315804-46316235	GM12878	blood:	n/a	n/a
23	BCL3	chr21:46324107-46324985	GM12878	blood:	n/a	n/a
24	BCL3	chr21:46315730-46316197	GM12878	blood:	n/a	n/a
25	BCL3	chr21:46321587-46322853	GM12878	blood:	n/a	n/a
26	BCL3	chr21:46317916-46318300	GM12878	blood:	n/a	n/a
27	BCL3	chr21:46324078-46325023	GM12878	blood:	n/a	n/a
28	BCL3	chr21:46317960-46318245	GM12878	blood:	n/a	n/a
29	BCLAF1	chr21:46331438-46331924	GM12878	blood:	n/a	n/a
30	BCLAF1	chr21:46334048-46334431	GM12878	blood:	n/a	chr21:46334249-46334258
31	BCLAF1	chr21:46312610-46313056	GM12878	blood:	n/a	n/a
32	BHLHE40	chr21:46317514-46317845	K562	blood:	n/a	n/a
33	BHLHE40	chr21:46301208-46301371	HepG2	liver:	n/a	n/a
34	BHLHE40	chr21:46300746-46301524	GM12878	blood:	n/a	n/a
35	BHLHE40	chr21:46332555-46333227	HepG2	liver:	n/a	n/a
36	BHLHE40	chr21:46327969-46328178	GM12878	blood:	n/a	n/a
37	BHLHE40	chr21:46298667-46298985	K562	blood:	n/a	n/a
38	BHLHE40	chr21:46312736-46313013	HepG2	liver:	n/a	n/a
39	BHLHE40	chr21:46331558-46331865	K562	blood:	n/a	chr21:46331692-46331708
40	BHLHE40	chr21:46333161-46333721	HepG2	liver:	n/a	n/a
41	BHLHE40	chr21:46312714-46313005	GM12878	blood:	n/a	n/a
42	BHLHE40	chr21:46318751-46319005	K562	blood:	n/a	chr21:46318868-46318881 chr21:46318871-46318880 chr21:46318864-46318885 chr21:46318870-46318879 chr21:46318870-46318879
43	BHLHE40	chr21:46331063-46331127	K562	blood:	n/a	n/a
44	BHLHE40	chr21:46331094-46331150	GM12878	blood:	n/a	n/a
45	BHLHE40	chr21:46321460-46321632	K562	blood:	n/a	n/a
46	BHLHE40	chr21:46300830-46301330	K562	blood:	n/a	n/a
47	BHLHE40	chr21:46332512-46332826	HepG2	liver:	n/a	n/a
48	BHLHE40	chr21:46320535-46320773	K562	blood:	n/a	n/a
49	BHLHE40	chr21:46330150-46330669	HepG2	liver:	n/a	chr21:46330478-46330487 chr21:46330478-46330487
50	BHLHE40	chr21:46330425-46330604	K562	blood:	n/a	chr21:46330478-46330487 chr21:46330478-46330487

(count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46309899-46309949	HCPEpiC	choroid plexus:	n/a
2	chr21:46309899-46309949	HCPEpiC	choroid plexus:	n/a
3	chr21:46332181-46332231	H1-hESC	embryonic stem cell:	embryo
4	chr21:46332181-46332231	HCPEpiC	choroid plexus:	n/a
5	chr21:46306224-46306274	GM12892	blood:	n/a
6	chr21:46306688-46306738	SAEC	small airway:	n/a
7	chr21:46303258-46303308	NT2-D1	testis:	n/a
8	chr21:46321585-46321635	SK-N-SH	brain:	n/a
9	chr21:46321415-46321465	HIPEpiC	eye:	n/a
10	chr21:46321415-46321465	PANC-1	pancreas:	n/a
11	chr21:46306688-46306738	SK-N-SH_RA	brain:	n/a
12	chr21:46306224-46306274	HAEpiC	amniotic membrane:	n/a
13	chr21:46322934-46322984	HRPEpiC	eye:	n/a
14	chr21:46309899-46309949	HEK293	kidney:	embryo
15	chr21:46325853-46325903	GM12892	blood:	n/a
16	chr21:46321585-46321635	ECC-1	luminal epithelium:	n/a
17	chr21:46323812-46323862	GM06990	blood:	n/a
18	chr21:46321529-46321579	T-47D	breast:	n/a
19	chr21:46327720-46327770	GM12892	blood:	n/a
20	chr21:46323665-46323715	NH-A	brain:	n/a
21	chr21:46334192-46334242	AG10803	skin:	n/a
22	chr21:46321585-46321635	BJ	skin:	n/a
23	chr21:46306794-46306844	HCT-116	colon:	n/a
24	chr21:46308308-46308358	SAEC	small airway:	n/a
25	chr21:46334214-46334264	AoSMC	blood vessel:	n/a
26	chr21:46334322-46334372	RPTEC	kidney:	n/a
27	chr21:46320816-46320866	IMR90	lung:	fetal
28	chr21:46323812-46323862	BE2_C	brain:	n/a
29	chr21:46327720-46327770	ProgFib	skin:	n/a
30	chr21:46303258-46303308	LNCaP	prostate:	n/a
31	chr21:46321585-46321635	MCF10A-Er-Src	breast:	n/a
32	chr21:46323665-46323715	ECC-1	luminal epithelium:	n/a
33	chr21:46306224-46306274	AoSMC	blood vessel:	n/a
34	chr21:46309899-46309949	HCM	heart:	n/a
35	chr21:46332181-46332231	Jurkat	blood:	n/a
36	chr21:46325853-46325903	Jurkat	blood:	n/a
37	chr21:46317913-46317963	SK-N-SH	brain:	n/a
38	chr21:46323924-46323974	SK-N-MC	brain:	n/a
39	chr21:46321529-46321579	RPTEC	kidney:	n/a
40	chr21:46334192-46334242	HEK293	kidney:	embryo
41	chr21:46321529-46321579	Caco-2	colon:	n/a
42	chr21:46323924-46323974	NB4	blood:	n/a
43	chr21:46320816-46320866	H1-hESC	embryonic stem cell:	embryo
44	chr21:46323812-46323862	HCPEpiC	choroid plexus:	n/a
45	chr21:46323812-46323862	A549	lung:	n/a
46	chr21:46320816-46320866	NT2-D1	testis:	n/a
47	chr21:46322934-46322984	AG09309	skin:	n/a
48	chr21:46323665-46323715	H1-hESC	embryonic stem cell:	embryo
49	chr21:46323812-46323862	AG09309	skin:	n/a
50	chr21:46306794-46306844	HCM	heart:	n/a

(count:106 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr21:46320135..46322797-chr21:46323413..46327575,5	K562	blood:
2	chr21:46300718..46303390-chr21:46325614..46327160,2	MCF-7	breast:
3	chr21:46300926..46303863-chr21:46305072..46307882,3	K562	blood:
4	chr21:46291446..46293976-chr21:46322203..46327064,4	MCF-7	breast:
5	chr21:46324305..46327726-chr21:46329311..46331639,4	K562	blood:
6	chr21:46222437..46224776-chr21:46325031..46327973,2	K562	blood:
7	chr21:46316977..46318505-chr21:46320167..46321939,2	K562	blood:
8	chr21:46296897..46299873-chr21:46358375..46361456,3	K562	blood:
9	chr21:46218715..46222663-chr21:46327180..46329613,3	K562	blood:
10	chr21:46221113..46222920-chr21:46311601..46314491,2	K562	blood:
11	chr21:46298053..46300206-chr21:46304270..46306029,2	K562	blood:
12	chr21:46236519..46238760-chr21:46309714..46312621,3	MCF-7	breast:
13	chr21:46317185..46319970-chr21:46346756..46348344,2	K562	blood:
14	chr21:46220726..46223224-chr21:46328113..46331561,4	K562	blood:
15	chr21:46312546..46313391-chr21:46369370..46370376,3	MCF-7	breast:
16	chr21:46312550..46313330-chr21:46347677..46348204,2	MCF-7	breast:
17	chr21:46274218..46276249-chr21:46318911..46322162,3	K562	blood:
18	chr21:46319170..46322090-chr21:46324172..46325775,2	K562	blood:
19	chr21:46325898..46328647-chr21:46340477..46342252,2	K562	blood:
20	chr21:46236362..46238915-chr21:46304111..46306677,3	MCF-7	breast:
21	chr21:46292609..46295460-chr21:46295899..46299289,8	K562	blood:
22	chr21:46292144..46295711-chr21:46299536..46302276,5	K562	blood:
23	chr21:46221117..46221708-chr21:46331474..46331998,2	MCF-7	breast:
24	chr21:46312763..46313309-chr21:46347485..46348262,2	MCF-7	breast:
25	chr21:46238172..46240580-chr21:46333314..46335686,2	K562	blood:
26	chr21:46298853..46300793-chr21:46302963..46305695,2	MCF-7	breast:
27	chr21:46324936..46326723-chr21:46329311..46331474,3	K562	blood:
28	chr21:46285482..46288366-chr21:46310550..46312529,2	K562	blood:
29	chr21:46308445..46311760-chr21:46312994..46317779,5	MCF-7	breast:
30	chr21:46255862..46258104-chr21:46297344..46299707,2	K562	blood:
31	chr21:46300926..46303863-chr21:46305072..46307882,3	K562	blood:
32	chr21:46235995..46238519-chr21:46334920..46337119,2	MCF-7	breast:
33	chr21:46312837..46313337-chr21:46556640..46557461,2	MCF-7	breast:
34	chr21:46297404..46300174-chr21:46309190..46311154,2	MCF-7	breast:
35	chr21:46316977..46318505-chr21:46320167..46321939,2	K562	blood:
36	chr21:46292064..46297590-chr21:46299437..46304733,9	MCF-7	breast:
37	chr21:46223417..46225728-chr21:46304439..46306955,2	K562	blood:
38	chr21:46318143..46320481-chr21:46398627..46400161,2	MCF-7	breast:
39	chr21:46218603..46223147-chr21:46334757..46337645,5	MCF-7	breast:
40	chr21:46298853..46300793-chr21:46302963..46305695,2	MCF-7	breast:
41	chr21:46302013..46304883-chr21:46310101..46313045,3	K562	blood:
42	chr21:46312407..46313298-chr21:46370668..46371408,2	MCF-7	breast:
43	chr21:46299899..46304790-chr21:46308846..46313230,4	K562	blood:
44	chr21:46297060..46299984-chr21:46306627..46308180,2	MCF-7	breast:
45	chr21:46314850..46316608-chr21:46322131..46323890,2	K562	blood:
46	chr21:46220554..46223722-chr21:46306934..46310028,3	MCF-7	breast:
47	chr21:46311571..46315571-chr21:46316327..46319914,4	K562	blood:
48	chr21:46298053..46300206-chr21:46304270..46306029,2	K562	blood:
49	chr21:46318344..46319977-chr21:46333551..46335219,2	K562	blood:
50	chr21:46305916..46307497-chr21:46310208..46311979,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf67-8	chr21:46330236-46330700	NONHSAT082894
2	lnc-C21orf67-8	chr21:46330199-46330603	NONHSAT082893
3	lnc-FAM207A-4	chr21:46300858-46300934	NONHSAT082891
4	lnc-C21orf67-8	chr21:46327902-46328097	NONHSAT082892
5	lnc-C21orf67-8	chr21:46329235-46329406	NONHSAT082893
6	lnc-C21orf67-8	chr21:46330199-46330287	NONHSAT082892
7	lnc-C21orf67-8	chr21:46330515-46330656	NONHSAT082892
8	lnc-FAM207A-4	chr21:46301632-46301909	NONHSAT082891

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ITGB2	hsa-miR-335-5p	chr21:46306199-46306221

Variant related genes	Relation type
ITGB2	TF binding region
ITGB2	CpG island
ENSG00000183255	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000272825	chromatin interactions
ENSG00000227039	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000160255	chromatin interactions
ENSG00000183250	chromatin interactions
ENSG00000160256	chromatin interactions

Extended variants
information (count: 2092 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2092 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs235305	chr21:46298869-46298870	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562824845	chr21:46298931-46298932	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs377394997	chr21:46298956-46298957	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs548370156	chr21:46299042-46299043	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs370397141	chr21:46299059-46299060	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs545129401	chr21:46299085-46299086	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs558251132	chr21:46299100-46299101	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs548033541	chr21:46299115-46299116	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs187076306	chr21:46299136-46299137	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs190521982	chr21:46299242-46299243	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs235306	chr21:46299257-46299258	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79543170	chr21:46299261-46299262	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs569170650	chr21:46299274-46299275	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs536492739	chr21:46299285-46299286	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs183443753	chr21:46299287-46299288	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs572976221	chr21:46299288-46299289	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs533623216	chr21:46299320-46299321	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs114467393	chr21:46299352-46299353	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs576798653	chr21:46299362-46299363	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs544171024	chr21:46299403-46299404	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs568826314	chr21:46299430-46299431	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs562887927	chr21:46299431-46299432	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs574781024	chr21:46299482-46299483	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs542026675	chr21:46299489-46299490	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs560287536	chr21:46299503-46299504	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs527802801	chr21:46299560-46299561	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs148714251	chr21:46299564-46299565	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs570096509	chr21:46299617-46299618	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs73374558	chr21:46299629-46299630	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566692983	chr21:46299837-46299838	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs531656124	chr21:46299838-46299839	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs78124772	chr21:46299842-46299843	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs34552233	chr21:46299849-46299850	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569186290	chr21:46299850-46299851	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs536505042	chr21:46299899-46299900	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs548426098	chr21:46299909-46299910	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs566512110	chr21:46299917-46299918	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs115225837	chr21:46299954-46299955	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs2838723	chr21:46299966-46299967	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs142250422	chr21:46299975-46299976	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs151248132	chr21:46299988-46299989	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs537486656	chr21:46300000-46300001	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs572098480	chr21:46300021-46300022	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs555697194	chr21:46300054-46300055	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs115349166	chr21:46300085-46300086	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs60220267	chr21:46300134-46300135	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554030868	chr21:46300214-46300215	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs147066158	chr21:46300284-46300285	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs546375492	chr21:46300395-46300396	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs187722465	chr21:46300404-46300405	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:1244 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46294800-46300600	Weak transcription	Fetal Kidney	kidney
2	chr21:46295200-46299600	Weak transcription	Brain Substantia Nigra	brain
3	chr21:46295200-46300200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:46295200-46301200	Weak transcription	Pancreas	Pancrea
5	chr21:46295200-46301400	Weak transcription	Lung	lung
6	chr21:46295200-46302600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:46295200-46304200	Weak transcription	Esophagus	oesophagus
8	chr21:46295400-46300600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr21:46295600-46299600	Weak transcription	Brain Hippocampus Middle	brain
10	chr21:46295600-46299800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr21:46295600-46299800	Weak transcription	HSMMtube	muscle
12	chr21:46295600-46300200	Weak transcription	NH-A	brain
13	chr21:46295600-46300400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:46295600-46300600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr21:46295600-46300800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:46295600-46300800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr21:46295600-46338800	Weak transcription	Right Atrium	heart
18	chr21:46295800-46299600	Weak transcription	Primary T cells from cord blood	blood
19	chr21:46295800-46300600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr21:46295800-46300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr21:46295800-46301200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr21:46295800-46301400	Weak transcription	Brain Anterior Caudate	brain
23	chr21:46295800-46303600	Enhancers	Primary B cells from cord blood	blood
24	chr21:46296000-46299400	Enhancers	Fetal Intestine Small	intestine
25	chr21:46296000-46299600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr21:46296000-46299800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr21:46296000-46299800	Weak transcription	Fetal Thymus	thymus
28	chr21:46296000-46300000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr21:46296000-46300000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr21:46296000-46300000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr21:46296000-46300000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr21:46296000-46300000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr21:46296000-46300000	Weak transcription	HSMM	muscle
34	chr21:46296000-46300200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr21:46296000-46300200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr21:46296000-46300200	Weak transcription	HMEC	breast
37	chr21:46296000-46300200	Weak transcription	Osteobl	bone
38	chr21:46296000-46300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr21:46296000-46300400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr21:46296000-46301000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr21:46296000-46301000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr21:46296000-46301000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr21:46296000-46301600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr21:46296000-46301600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr21:46296000-46303800	Enhancers	Primary hematopoietic stem cells	blood
46	chr21:46296000-46304600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr21:46296000-46307400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr21:46296200-46300200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr21:46296400-46300200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr21:46296400-46300800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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