Variant report

Variant	nsv984523
Chromosome Location	chr21:46765735-46792268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1212)
CpG islands
(count:734)
Chromatin interactive
region (count:74)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1212 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46785650-46786008	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:46776579-46777069	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:46783885-46784282	K562	blood:	n/a	n/a
4	ARID3A	chr21:46774893-46775210	K562	blood:	n/a	n/a
5	ARID3A	chr21:46783915-46784326	HepG2	liver:	n/a	n/a
6	ARID3A	chr21:46780061-46780529	K562	blood:	n/a	n/a
7	ATF1	chr21:46770199-46770839	K562	blood:	n/a	n/a
8	ATF1	chr21:46790515-46790769	K562	blood:	n/a	n/a
9	ATF2	chr21:46785668-46786074	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr21:46785716-46786063	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr21:46786865-46787077	K562	blood:	n/a	n/a
12	ATF3	chr21:46783763-46784370	A549	lung:	n/a	n/a
13	ATF3	chr21:46783894-46784312	K562	blood:	n/a	n/a
14	ATF3	chr21:46783852-46784400	K562	blood:	n/a	n/a
15	ATF3	chr21:46790525-46790742	K562	blood:	n/a	n/a
16	ATF3	chr21:46786673-46786999	A549	lung:	n/a	n/a
17	ATF3	chr21:46783847-46784335	A549	lung:	n/a	n/a
18	BACH1	chr21:46766930-46767217	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr21:46783793-46784400	K562	blood:	n/a	chr21:46784189-46784203
20	BACH1	chr21:46776316-46776660	K562	blood:	n/a	n/a
21	BACH1	chr21:46780220-46780449	K562	blood:	n/a	n/a
22	BACH1	chr21:46785602-46786027	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr21:46767460-46767593	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr21:46783853-46784291	H1-hESC	embryonic stem cell:	n/a	chr21:46784189-46784203
25	BATF	chr21:46783766-46784349	GM12878	blood:	n/a	chr21:46784062-46784073
26	BATF	chr21:46783813-46784229	GM12878	blood:	n/a	chr21:46784062-46784073
27	BCL3	chr21:46783807-46784411	A549	lung:	n/a	n/a
28	BCL3	chr21:46783810-46784408	A549	lung:	n/a	n/a
29	BHLHE40	chr21:46790632-46790726	HepG2	liver:	n/a	n/a
30	BHLHE40	chr21:46790489-46790867	K562	blood:	n/a	n/a
31	BHLHE40	chr21:46769437-46770021	K562	blood:	n/a	n/a
32	BHLHE40	chr21:46786818-46787044	K562	blood:	n/a	n/a
33	BHLHE40	chr21:46783905-46784153	GM12878	blood:	n/a	n/a
34	BHLHE40	chr21:46783835-46784347	K562	blood:	n/a	n/a
35	BHLHE40	chr21:46783873-46784208	HepG2	liver:	n/a	n/a
36	BHLHE40	chr21:46785382-46786091	HepG2	liver:	n/a	n/a
37	BHLHE40	chr21:46786875-46787311	HepG2	liver:	n/a	n/a
38	BHLHE40	chr21:46776319-46776777	K562	blood:	n/a	n/a
39	BHLHE40	chr21:46780087-46780507	K562	blood:	n/a	n/a
40	BHLHE40	chr21:46781635-46781851	K562	blood:	n/a	n/a
41	BHLHE40	chr21:46779543-46779555	K562	blood:	n/a	n/a
42	BHLHE40	chr21:46785676-46786044	HepG2	liver:	n/a	n/a
43	BHLHE40	chr21:46776435-46777034	HepG2	liver:	n/a	n/a
44	BHLHE40	chr21:46769385-46769692	HepG2	liver:	n/a	n/a
45	BRCA1	chr21:46783935-46784480	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr21:46776296-46776452	H1-hESC	embryonic stem cell:	n/a	n/a
47	BRCA1	chr21:46776564-46776663	HepG2	liver:	n/a	n/a
48	CBX3	chr21:46780123-46780448	K562	blood:	n/a	n/a
49	CBX3	chr21:46783767-46784381	K562	blood:	n/a	n/a
50	CBX3	chr21:46780021-46780544	K562	blood:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46785181-46785231	HPAEpiC	pulmonary alveolar:	n/a
2	chr21:46786040-46786090	NH-A	brain:	n/a
3	chr21:46785181-46785231	HPAEpiC	pulmonary alveolar:	n/a
4	chr21:46786040-46786090	NH-A	brain:	n/a
5	chr21:46785334-46785384	NH-A	brain:	n/a
6	chr21:46785334-46785384	RPTEC	kidney:	n/a
7	chr21:46785181-46785231	NH-A	brain:	n/a
8	chr21:46785181-46785231	HEEpiC	esophagus:	n/a
9	chr21:46765797-46765847	GM19239	blood:	n/a
10	chr21:46782485-46782535	HRE	kidney:	n/a
11	chr21:46786040-46786090	HIPEpiC	eye:	n/a
12	chr21:46768057-46768107	HEK293	kidney:	embryo
13	chr21:46787813-46787863	AG10803	skin:	n/a
14	chr21:46785338-46785388	NH-A	brain:	n/a
15	chr21:46786040-46786090	HEK293	kidney:	embryo
16	chr21:46785338-46785388	Hela-S3	cervix:	n/a
17	chr21:46765797-46765847	SK-N-SH	brain:	n/a
18	chr21:46784677-46784727	HepG2	liver:	n/a
19	chr21:46784677-46784727	HEEpiC	esophagus:	n/a
20	chr21:46768124-46768174	NHDF-neo	bronchial:	n/a
21	chr21:46785334-46785384	HMEC	breast:	n/a
22	chr21:46787125-46787175	A549	lung:	n/a
23	chr21:46786040-46786090	PrEC	prostate:	n/a
24	chr21:46785338-46785388	A549	lung:	n/a
25	chr21:46768124-46768174	HCT-116	colon:	n/a
26	chr21:46787813-46787863	RPTEC	kidney:	n/a
27	chr21:46787813-46787863	SK-N-SH_RA	brain:	n/a
28	chr21:46787125-46787175	GM19239	blood:	n/a
29	chr21:46787813-46787863	T-47D	breast:	n/a
30	chr21:46784677-46784727	MCF-7	breast:	n/a
31	chr21:46786040-46786090	ProgFib	skin:	n/a
32	chr21:46786040-46786090	PFSK-1	brain:	n/a
33	chr21:46787125-46787175	HCF	heart:	n/a
34	chr21:46784677-46784727	H1-hESC	embryonic stem cell:	embryo
35	chr21:46768124-46768174	ProgFib	skin:	n/a
36	chr21:46787125-46787175	H1-hESC	embryonic stem cell:	embryo
37	chr21:46786040-46786090	AG10803	skin:	n/a
38	chr21:46785334-46785384	AG04450	lung:	fetal
39	chr21:46768057-46768107	RPTEC	kidney:	n/a
40	chr21:46786040-46786090	MCF-7	breast:	n/a
41	chr21:46766039-46766089	NT2-D1	testis:	n/a
42	chr21:46785338-46785388	PrEC	prostate:	n/a
43	chr21:46782485-46782535	AG09319	gingival:	n/a
44	chr21:46782485-46782535	AoSMC	blood vessel:	n/a
45	chr21:46786040-46786090	SK-N-SH_RA	brain:	n/a
46	chr21:46786040-46786090	BE2_C	brain:	n/a
47	chr21:46765797-46765847	NH-A	brain:	n/a
48	chr21:46768057-46768107	MCF10A-Er-Src	breast:	n/a
49	chr21:46768124-46768174	BJ	skin:	n/a
50	chr21:46782485-46782535	AG04450	lung:	fetal

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:46771176..46771696-chr3:12045692..12046262,2	HCT-116	colon:
2	chr21:46786827..46788871-chr21:46799843..46802359,2	MCF-7	breast:
3	chr21:46746835..46750946-chr21:46781455..46788105,6	MCF-7	breast:
4	chr21:46728395..46729331-chr21:46774690..46775582,2	MCF-7	breast:
5	chr21:46757130..46759236-chr21:46775572..46778258,3	MCF-7	breast:
6	chr21:46784146..46786612-chr21:46790428..46792332,2	MCF-7	breast:
7	chr21:46783643..46786140-chr21:46787333..46790982,4	K562	blood:
8	chr21:46785990..46788391-chr21:46792580..46795385,3	MCF-7	breast:
9	chr21:46784229..46786140-chr21:46789029..46792011,2	K562	blood:
10	chr21:46784146..46786612-chr21:46790428..46792332,2	MCF-7	breast:
11	chr21:46768124..46769911-chr21:46771066..46772776,2	K562	blood:
12	chr21:46775506..46777131-chr21:46825203..46827487,2	MCF-7	breast:
13	chr21:46770665..46773273-chr21:46776700..46781234,4	K562	blood:
14	chr21:46776624..46778577-chr21:46780085..46782852,2	K562	blood:
15	chr21:46742554..46754172-chr21:46763183..46779385,43	MCF-7	breast:
16	chr21:46744513..46752092-chr21:46770815..46780844,15	MCF-7	breast:
17	chr21:46781128..46784018-chr21:46789950..46792808,3	K562	blood:
18	chr21:46749860..46750789-chr21:46772424..46773305,4	MCF-7	breast:
19	chr21:46783218..46786077-chr21:46800000..46803414,3	MCF-7	breast:
20	chr21:46791477..46793096-chr21:46835221..46836872,2	MCF-7	breast:
21	chr21:46772479..46773324-chr21:46806372..46806978,2	MCF-7	breast:
22	chr21:46715805..46717314-chr21:46768759..46770492,2	MCF-7	breast:
23	chr21:46783643..46786140-chr21:46787333..46790982,4	K562	blood:
24	chr21:46790662..46792245-chr21:47062716..47064489,2	MCF-7	breast:
25	chr21:46786699..46788442-chr21:46824585..46826326,2	MCF-7	breast:
26	chr21:46782180..46784120-chr21:46832061..46834580,2	K562	blood:
27	chr21:46782569..46785690-chr21:46824180..46826670,3	K562	blood:
28	chr21:46745857..46751691-chr21:46790037..46794864,6	MCF-7	breast:
29	chr21:46754054..46755589-chr21:46777595..46779473,2	MCF-7	breast:
30	chr21:46775998..46776826-chr21:46859030..46859669,2	K562	blood:
31	chr21:46711496..46712142-chr21:46775912..46776862,2	K562	blood:
32	chr21:46752189..46754424-chr21:46782594..46785593,2	K562	blood:
33	chr21:46778713..46781646-chr21:46784300..46787104,2	K562	blood:
34	chr21:46779194..46779940-chr21:46859138..46859922,3	K562	blood:
35	chr21:46708303..46710406-chr21:46781608..46784032,2	MCF-7	breast:
36	chr21:46758944..46763732-chr21:46767753..46771974,7	MCF-7	breast:
37	chr21:46780359..46782550-chr21:46847058..46849982,2	K562	blood:
38	chr21:46737653..46759617-chr21:46790778..46832239,260	MCF-7	breast:
39	chr21:46781128..46784018-chr21:46789950..46792808,3	K562	blood:
40	chr21:46785319..46787728-chr3:128509220..128510852,2	MCF-7	breast:
41	chr21:46766033..46768501-chr21:46778494..46780631,3	K562	blood:
42	chr21:46782194..46784995-chr21:46847516..46849065,2	MCF-7	breast:
43	chr21:46768124..46769911-chr21:46771066..46772776,2	K562	blood:
44	chr21:46778968..46780820-chr21:46781164..46783505,2	K562	blood:
45	chr21:46782569..46785159-chr21:46825170..46827160,3	K562	blood:
46	chr21:46777989..46780944-chr21:46829447..46831781,3	K562	blood:
47	chr21:46766033..46768320-chr21:46778494..46780631,2	K562	blood:
48	chr21:46754621..46757685-chr21:46766945..46770660,3	MCF-7	breast:
49	chr21:46787383..46789005-chr21:46801740..46804579,2	K562	blood:
50	chr21:46760818..46763456-chr21:46782505..46784572,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL18A1-1	chr21:46791774-46791842	XLOC_013984
2	lnc-COL18A1-1	chr21:46790863-46791158	XLOC_013984
3	lnc-COL18A1-2	chr21:46773280-46773433	XLOC_013983
4	lnc-COL18A1-2	chr21:46767517-46767603	XLOC_013983

No data

Variant related genes	Relation type
LINC00316	TF binding region
LINC00316	CpG island
ENSG00000237664	chromatin interactions
ENSG00000183570	chromatin interactions
ENSG00000182871	chromatin interactions
ENSG00000223768	chromatin interactions
ENSG00000228355	chromatin interactions
ENSG00000229382	chromatin interactions
ENSG00000157152	chromatin interactions
ENSG00000224574	chromatin interactions
SH3BP5	miRNA target sites
SH3BGRL3	miRNA target sites

Extended variants
information (count: 1399 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1399 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552298227	chr21:46765743-46765744	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs570931744	chr21:46765747-46765748	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11701431	chr21:46765756-46765757	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs11701496	chr21:46765757-46765758	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs529603988	chr21:46765771-46765772	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs56316734	chr21:46765786-46765787	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs552839324	chr21:46765814-46765815	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs560547918	chr21:46765815-46765816	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs8132817	chr21:46765829-46765830	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs9979145	chr21:46765831-46765832	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs62214447	chr21:46765844-46765845	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs111788901	chr21:46765855-46765856	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376961275	chr21:46765887-46765888	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs11701323	chr21:46765945-46765946	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs8134495	chr21:46765959-46765960	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs11701481	chr21:46765971-46765972	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs550122593	chr21:46765980-46765981	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs201049332	chr21:46765981-46765982	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs568708354	chr21:46765988-46765989	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535776158	chr21:46765989-46765990	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs28515152	chr21:46766003-46766004	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs367933081	chr21:46766018-46766019	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs8133072	chr21:46766030-46766031	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553760650	chr21:46766037-46766038	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs199556470	chr21:46766047-46766048	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200384560	chr21:46766060-46766061	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs111267420	chr21:46766061-46766062	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs188493512	chr21:46766102-46766103	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs539519119	chr21:46766117-46766118	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs148540722	chr21:46766128-46766129	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs576073516	chr21:46766140-46766141	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs77966230	chr21:46766157-46766158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs71185149	chr21:46766173-46766174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555278660	chr21:46766206-46766207	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113183596	chr21:46766234-46766235	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532587100	chr21:46766235-46766236	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540969336	chr21:46766239-46766240	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552769777	chr21:46766278-46766279	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560109211	chr21:46766283-46766284	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs527706197	chr21:46766298-46766299	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs145416605	chr21:46766314-46766315	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs564566737	chr21:46766406-46766407	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531734253	chr21:46766416-46766417	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs113391001	chr21:46766434-46766435	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568568764	chr21:46766435-46766436	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs193080699	chr21:46766451-46766452	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548139244	chr21:46766484-46766485	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs142494828	chr21:46766493-46766494	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539405498	chr21:46766494-46766495	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs551112561	chr21:46766496-46766497	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
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
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
Breast cancer	17142309	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
Acute myeloid leukemia	17237825	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Lung cancer	21203850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:784 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46750400-46770200	Weak transcription	Gastric	stomach
2	chr21:46751600-46769800	Weak transcription	Fetal Heart	heart
3	chr21:46757200-46767400	Weak transcription	Right Ventricle	heart
4	chr21:46761600-46767000	Weak transcription	Spleen	Spleen
5	chr21:46761800-46768600	Weak transcription	Esophagus	oesophagus
6	chr21:46764600-46766200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:46764800-46767600	Weak transcription	Right Atrium	heart
8	chr21:46765000-46767200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr21:46765000-46767600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:46765000-46770000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr21:46765200-46767200	Weak transcription	NHDF-Ad	bronchial
12	chr21:46766200-46766400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:46766200-46766400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr21:46766400-46766800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:46766400-46767200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr21:46766800-46767200	Weak transcription	Adipose Nuclei	Adipose
17	chr21:46766800-46767600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr21:46766800-46767800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:46766800-46767800	Enhancers	A549	lung
20	chr21:46766800-46768000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:46767000-46767200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:46767000-46767200	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr21:46767000-46767400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:46767000-46767800	Bivalent Enhancer	HMEC	breast
25	chr21:46767000-46768000	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr21:46767000-46768800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr21:46767000-46768800	Enhancers	Spleen	Spleen
28	chr21:46767200-46767400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr21:46767200-46767400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
30	chr21:46767200-46767600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr21:46767200-46767600	Bivalent Enhancer	NHEK	skin
32	chr21:46767200-46767800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr21:46767200-46767800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr21:46767200-46768000	Enhancers	Stomach Smooth Muscle	stomach
35	chr21:46767200-46768800	Bivalent Enhancer	Fetal Stomach	stomach
36	chr21:46767200-46770000	Enhancers	NHDF-Ad	bronchial
37	chr21:46767200-46770200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr21:46767200-46774000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr21:46767400-46767600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr21:46767400-46767600	Enhancers	Brain Angular Gyrus	brain
41	chr21:46767400-46767600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
42	chr21:46767400-46767800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
43	chr21:46767400-46768000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr21:46767400-46768000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr21:46767400-46769800	Enhancers	Adipose Nuclei	Adipose
46	chr21:46767400-46770200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr21:46767400-46772000	Enhancers	Right Ventricle	heart
48	chr21:46767600-46767800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr21:46767600-46767800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
50	chr21:46767600-46767800	Bivalent Enhancer	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links