Variant report

Variant	nsv1057643
Chromosome Location	chr21:47953820-48056600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1096)
CpG islands
(count:1955)
Chromatin interactive
region (count:140)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1096 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr21:48054800-48055606	GM12878	blood:	n/a	n/a
2	ATF2	chr21:48028361-48029224	GM12878	blood:	n/a	n/a
3	ATF3	chr21:48055257-48055907	A549	lung:	n/a	chr21:48055268-48055277
4	ATF3	chr21:48055226-48055739	K562	blood:	n/a	chr21:48055237-48055245 chr21:48055268-48055277
5	ATF3	chr21:48055269-48055855	K562	blood:	n/a	n/a
6	ATF3	chr21:48055269-48055747	A549	lung:	n/a	n/a
7	ATF3	chr21:48017955-48018252	K562	blood:	n/a	chr21:48018068-48018088
8	ATF3	chr21:48054937-48055231	K562	blood:	n/a	n/a
9	BACH1	chr21:47971730-47971895	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr21:48028436-48029053	GM12878	blood:	n/a	n/a
11	BATF	chr21:48028473-48028947	GM12878	blood:	n/a	n/a
12	BCLAF1	chr21:48054738-48055175	GM12878	blood:	n/a	n/a
13	BCLAF1	chr21:48028466-48029094	GM12878	blood:	n/a	n/a
14	BCLAF1	chr21:48025984-48026402	GM12878	blood:	n/a	n/a
15	BHLHE40	chr21:47983229-47983425	K562	blood:	n/a	n/a
16	BHLHE40	chr21:47979787-47979972	HepG2	liver:	n/a	n/a
17	BHLHE40	chr21:47984475-47984548	K562	blood:	n/a	n/a
18	BHLHE40	chr21:47974833-47975086	K562	blood:	n/a	n/a
19	BHLHE40	chr21:47979309-47979386	GM12878	blood:	n/a	n/a
20	BRCA1	chr21:47968213-47968319	GM12878	blood:	n/a	n/a
21	CBX3	chr21:48017920-48018249	K562	blood:	n/a	n/a
22	CBX3	chr21:48017809-48018333	K562	blood:	n/a	n/a
23	CBX3	chr21:48014212-48014536	K562	blood:	n/a	n/a
24	CBX3	chr21:48054356-48056106	K562	blood:	n/a	n/a
25	CEBPB	chr21:48047658-48048067	K562	blood:	n/a	n/a
26	CEBPB	chr21:47989029-47989304	A549	lung:	n/a	n/a
27	CEBPB	chr21:47988938-47989373	IMR90	lung:	n/a	n/a
28	CEBPB	chr21:48047791-48047968	K562	blood:	n/a	n/a
29	CEBPB	chr21:48020264-48020558	K562	blood:	n/a	n/a
30	CEBPB	chr21:47989027-47989372	HepG2	liver:	n/a	n/a
31	CEBPB	chr21:47959732-47959987	K562	blood:	n/a	n/a
32	CEBPD	chr21:48054859-48055913	K562	blood:	n/a	n/a
33	CEBPD	chr21:48055110-48055815	HepG2	liver:	n/a	n/a
34	CREB1	chr21:48054800-48055327	ECC-1	luminal epithelium:	n/a	n/a
35	CREB1	chr21:48054806-48056067	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr21:48054804-48055837	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr21:48054978-48055140	A549	lung:	n/a	n/a
38	CREB1	chr21:48054940-48056118	A549	lung:	n/a	n/a
39	CREB1	chr21:48054788-48056180	GM12878	blood:	n/a	n/a
40	CREB1	chr21:48054844-48055240	ECC-1	luminal epithelium:	n/a	n/a
41	CREB1	chr21:48054821-48056265	HepG2	liver:	n/a	n/a
42	CREB1	chr21:48054848-48056254	K562	blood:	n/a	n/a
43	CTCF	chr21:48055011-48055187	SK-N-SH_RA	brain:	n/a	chr21:48055091-48055107
44	CTCF	chr21:48054960-48055110	HA-sp	spinal cord:	n/a	chr21:48055091-48055107
45	CTCF	chr21:48054980-48055130	HepG2	liver:	n/a	chr21:48055091-48055107
46	CTCF	chr21:48054980-48055130	GM12872	blood:	n/a	chr21:48055091-48055107
47	CTCF	chr21:48055011-48055169	NHEK	skin:	n/a	chr21:48055091-48055107
48	CTCF	chr21:48055860-48056010	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr21:48054980-48055130	Hela-S3	cervix:	n/a	chr21:48055091-48055107
50	CTCF	chr21:47971642-47971799	GM10248	blood:	n/a	n/a

(count:1955 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:48019296-48019346	Jurkat	blood:	n/a
2	chr21:48018790-48018840	HCPEpiC	choroid plexus:	n/a
3	chr21:48054563-48054613	NT2-D1	testis:	n/a
4	chr21:48019296-48019346	Jurkat	blood:	n/a
5	chr21:48018790-48018840	HCPEpiC	choroid plexus:	n/a
6	chr21:48054563-48054613	NT2-D1	testis:	n/a
7	chr21:48021941-48021991	A549	lung:	n/a
8	chr21:48017232-48017282	CMK	blood:	n/a
9	chr21:47987607-47987657	AG04450	lung:	fetal
10	chr21:48055893-48055943	HCM	heart:	n/a
11	chr21:48017232-48017282	GM12892	blood:	n/a
12	chr21:48018790-48018840	HPAEpiC	pulmonary alveolar:	n/a
13	chr21:48024683-48024733	AG04450	lung:	fetal
14	chr21:48055338-48055388	A549	lung:	n/a
15	chr21:48055224-48055274	CMK	blood:	n/a
16	chr21:48026181-48026231	HAEpiC	amniotic membrane:	n/a
17	chr21:48018632-48018682	IMR90	lung:	fetal
18	chr21:48022339-48022389	HRE	kidney:	n/a
19	chr21:48018632-48018682	HL-60	blood:	n/a
20	chr21:48026043-48026093	HUVEC	blood vessel:	n/a
21	chr21:48055212-48055262	HUVEC	blood vessel:	n/a
22	chr21:48052757-48052807	HAEpiC	amniotic membrane:	n/a
23	chr21:48055224-48055274	AG10803	skin:	n/a
24	chr21:48026298-48026348	GM19239	blood:	n/a
25	chr21:48025155-48025205	K562	blood:	n/a
26	chr21:48026043-48026093	AG09319	gingival:	n/a
27	chr21:48025155-48025205	HEEpiC	esophagus:	n/a
28	chr21:48025155-48025205	HIPEpiC	eye:	n/a
29	chr21:48019296-48019346	ECC-1	luminal epithelium:	n/a
30	chr21:48055519-48055569	AoSMC	blood vessel:	n/a
31	chr21:47966967-47967017	SAEC	small airway:	n/a
32	chr21:48055338-48055388	BJ	skin:	n/a
33	chr21:48024639-48024689	HMEC	breast:	n/a
34	chr21:47969887-47969937	NB4	blood:	n/a
35	chr21:48018608-48018658	HRE	kidney:	n/a
36	chr21:48024639-48024689	SK-N-SH	brain:	n/a
37	chr21:48055366-48055416	AG04449	skin:	fetal
38	chr21:48052757-48052807	LNCaP	prostate:	n/a
39	chr21:48025691-48025741	HRCEpiC	kidney:	n/a
40	chr21:48055338-48055388	MCF-7	breast:	n/a
41	chr21:48052757-48052807	ECC-1	luminal epithelium:	n/a
42	chr21:48025155-48025205	Hepatocyte	liver:	n/a
43	chr21:48054897-48054947	GM12891	blood:	n/a
44	chr21:48024639-48024689	AG04449	skin:	fetal
45	chr21:48026298-48026348	HL-60	blood:	n/a
46	chr21:48015365-48015415	GM06990	blood:	n/a
47	chr21:48015365-48015415	GM12891	blood:	n/a
48	chr21:48018608-48018658	SK-N-MC	brain:	n/a
49	chr21:48026043-48026093	HIPEpiC	eye:	n/a
50	chr21:48026181-48026231	NT2-D1	testis:	n/a

(count:140 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr21:47961860..47963778-chr21:47982193..47984274,2	K562	blood:
2	chr21:48019242..48021637-chr21:48023777..48026826,3	MCF-7	breast:
3	chr21:48013557..48016686-chr21:48017781..48019868,3	MCF-7	breast:
4	chr21:48003128..48004642-chr21:48053741..48055698,2	MCF-7	breast:
5	chr21:48021498..48023722-chr21:48025363..48027869,3	K562	blood:
6	chr21:47976473..47979943-chr21:47981689..47985824,4	K562	blood:
7	chr21:48024575..48027546-chr21:48055306..48056858,2	K562	blood:
8	chr21:47956395..47958346-chr21:47958999..47961279,2	K562	blood:
9	chr21:47972221..47973948-chr21:47980674..47982187,2	K562	blood:
10	chr21:47878168..47880063-chr21:48054664..48057491,4	MCF-7	breast:
11	chr21:47961062..47963795-chr21:47966527..47968756,2	MCF-7	breast:
12	chr21:48021540..48023901-chr21:48055495..48057109,2	MCF-7	breast:
13	chr21:48055854..48056356-chr6:27860488..27861098,2	Hela-S3	cervix:
14	chr21:47959900..47962353-chr21:47964256..47965869,2	K562	blood:
15	chr21:47647612..47649806-chr21:48055027..48056571,2	K562	blood:
16	chr21:48055000..48055796-chr9:132251161..132252102,2	Hela-S3	cervix:
17	chr21:47876440..47878945-chr21:47970776..47973767,2	MCF-7	breast:
18	chr21:48055038..48055911-chr5:158523369..158523869,2	Hela-S3	cervix:
19	chr1:207494972..207495556-chr21:48055180..48055885,2	Hela-S3	cervix:
20	chr21:47949927..47954811-chr21:47962745..47966393,6	K562	blood:
21	chr21:47972251..47974231-chr21:48053496..48055796,2	K562	blood:
22	chr21:48044131..48047004-chr21:48048003..48050751,2	MCF-7	breast:
23	chr21:47956156..47957836-chr21:47975877..47978282,2	K562	blood:
24	chr21:47967795..47973717-chr21:47974569..47979109,7	K562	blood:
25	chr21:47951124..47955048-chr21:47957159..47961247,5	K562	blood:
26	chr21:48005218..48007630-chr21:48055834..48057649,2	K562	blood:
27	chr21:48044131..48047004-chr21:48048003..48050751,2	MCF-7	breast:
28	chr16:81069280..81069978-chr21:48054904..48055633,2	Hela-S3	cervix:
29	chr21:47979038..47981600-chr21:48055778..48057959,2	MCF-7	breast:
30	chr21:47970600..47973376-chr21:47976429..47979323,2	MCF-7	breast:
31	chr21:47972221..47973948-chr21:47980674..47982187,2	K562	blood:
32	chr21:48017805..48022026-chr21:48053687..48056894,4	K562	blood:
33	chr21:48054348..48057362-chr21:48062068..48064635,4	K562	blood:
34	chr21:47984970..47986522-chr21:48008602..48011495,2	K562	blood:
35	chr21:47964144..47967545-chr21:47972969..47977002,4	K562	blood:
36	chr21:48042730..48044237-chr21:48044461..48046707,2	K562	blood:
37	chr21:48025603..48028303-chr21:48029330..48031658,3	MCF-7	breast:
38	chr21:48043406..48045723-chr21:48050633..48054621,3	K562	blood:
39	chr21:48048775..48050687-chr21:48053494..48055105,2	MCF-7	breast:
40	chr21:47979855..47982153-chr21:48055162..48056734,2	MCF-7	breast:
41	chr21:47962897..47964618-chr21:47964925..47967563,2	K562	blood:
42	chr21:48054316..48057026-chr21:48067023..48068538,2	K562	blood:
43	chr21:47986444..47988898-chr21:48015731..48017367,2	K562	blood:
44	chr21:47962897..47964618-chr21:47964925..47967563,2	K562	blood:
45	chr21:47964705..47967234-chr21:47968598..47971419,5	K562	blood:
46	chr21:48031009..48033882-chr21:48053845..48056552,2	MCF-7	breast:
47	chr21:47990428..47992783-chr21:47994801..47997759,2	K562	blood:
48	chr21:47982466..47985451-chr21:47987034..47988568,2	MCF-7	breast:
49	chr21:47959900..47962353-chr21:47964256..47965869,2	K562	blood:
50	chr21:48002194..48004914-chr21:48055144..48057333,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIP2A-5	chr21:48055527-48055675	NONHSAT083074

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	DIP2A	hsa-miR-125a-5p	chr21:47989806-47989829

Variant related genes	Relation type
ENSG00000272283	TF binding region
DIP2A	TF binding region
PRMT2	TF binding region
S100B	TF binding region
ENSG00000272283	CpG island
DIP2A	CpG island
PRMT2	CpG island
S100B	CpG island
ENSG00000160285	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000196352	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000118873	chromatin interactions
ENSG00000160310	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000247077	chromatin interactions
ENSG00000256061	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000214706	chromatin interactions
ENSG00000215424	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000126070	chromatin interactions
ENSG00000160305	chromatin interactions
ENSG00000230982	chromatin interactions
ENSG00000261771	chromatin interactions
ENSG00000202239	chromatin interactions
ENSG00000109046	chromatin interactions
ENSG00000265692	chromatin interactions
ENSG00000164330	chromatin interactions
ENSG00000109790	chromatin interactions
ENSG00000263583	chromatin interactions
ENSG00000204054	chromatin interactions
ENSG00000232065	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000272283	chromatin interactions
ENSG00000129657	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000231473	chromatin interactions
ENSG00000139687	chromatin interactions
ENSG00000160307	chromatin interactions
ENSG00000105699	chromatin interactions

Extended variants
information (count: 4289 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:4289 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111496392	chr21:47953826-47953827	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs370093456	chr21:47953984-47953985	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555324932	chr21:47953995-47953996	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374637945	chr21:47954003-47954004	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376419873	chr21:47954015-47954016	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76189255	chr21:47954017-47954018	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370914828	chr21:47954021-47954022	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368793576	chr21:47954032-47954033	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs374286966	chr21:47954036-47954037	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74627652	chr21:47954060-47954061	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570972488	chr21:47954062-47954063	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs199694062	chr21:47954069-47954070	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368279698	chr21:47954071-47954072	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373161616	chr21:47954091-47954092	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372169522	chr21:47954131-47954132	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552985052	chr21:47954135-47954136	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577762965	chr21:47954155-47954156	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536988757	chr21:47954164-47954165	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2839306	chr21:47954219-47954220	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs144523557	chr21:47954227-47954228	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2839307	chr21:47954252-47954253	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs540630677	chr21:47954259-47954260	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535299384	chr21:47954284-47954285	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371066953	chr21:47954288-47954289	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375565430	chr21:47954302-47954303	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562212148	chr21:47954345-47954346	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs529526862	chr21:47954354-47954355	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs547711535	chr21:47954381-47954382	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs148063279	chr21:47954384-47954385	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs533193410	chr21:47954389-47954390	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs200591697	chr21:47954429-47954430	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs557393526	chr21:47954441-47954442	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567317799	chr21:47954447-47954448	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371757549	chr21:47954465-47954466	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs374691753	chr21:47954545-47954546	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs201190474	chr21:47954567-47954568	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs371619007	chr21:47954568-47954569	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs184663499	chr21:47954570-47954571	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs570134572	chr21:47954584-47954585	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs201196773	chr21:47954590-47954591	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs543189133	chr21:47954612-47954613	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs377299390	chr21:47954617-47954618	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200246973	chr21:47954623-47954624	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187626385	chr21:47954624-47954625	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375607140	chr21:47954647-47954648	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369661961	chr21:47954651-47954652	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534915173	chr21:47954656-47954657	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs117062128	chr21:47954678-47954679	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs571223223	chr21:47954679-47954680	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs2839308	chr21:47954727-47954728	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	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 adenocarcinoma	17086460	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

Chromatin state (count:2927 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47932000-47961400	Weak transcription	Fetal Brain Male	brain
2	chr21:47932200-47954000	Weak transcription	A549	lung
3	chr21:47932400-47954400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr21:47932400-47957400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:47933000-47967200	Weak transcription	Fetal Kidney	kidney
6	chr21:47938000-47955800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr21:47939600-47955600	Weak transcription	Fetal Heart	heart
8	chr21:47943600-47990600	Strong transcription	Fetal Stomach	stomach
9	chr21:47944000-47956800	Weak transcription	K562	blood
10	chr21:47946600-47954600	Weak transcription	Stomach Mucosa	stomach
11	chr21:47947200-47975200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr21:47947400-47965600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:47947600-47967200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:47947600-47989000	Strong transcription	Dnd41	blood
15	chr21:47947600-47991000	Strong transcription	Fetal Muscle Leg	muscle
16	chr21:47948000-47955600	Weak transcription	Right Atrium	heart
17	chr21:47948000-47960200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr21:47948000-47968400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr21:47948200-47955400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:47948400-47955600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr21:47948400-47971600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr21:47948400-47993600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr21:47948600-47968000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr21:47948600-47968000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:47948600-47971400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr21:47948600-47993200	Strong transcription	Fetal Intestine Large	intestine
27	chr21:47948800-47955800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr21:47948800-47956200	Strong transcription	Primary hematopoietic stem cells	blood
29	chr21:47948800-47969000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr21:47948800-47970400	Strong transcription	Placenta	Placenta
31	chr21:47948800-47979400	Strong transcription	Liver	Liver
32	chr21:47949000-47965000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr21:47949000-47965200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr21:47949000-47969000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr21:47949000-47979000	Strong transcription	Adipose Nuclei	Adipose
36	chr21:47949000-47988200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr21:47949000-47993600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr21:47949600-47962400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr21:47949600-47968600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr21:47949600-47970200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr21:47949800-47967800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr21:47949800-47991800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr21:47950000-47954600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr21:47950000-47956000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr21:47950000-47957600	Strong transcription	HSMM	muscle
46	chr21:47950000-47965200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr21:47950000-47968800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr21:47950000-47989200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr21:47950000-47991000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr21:47950200-47959400	Strong transcription	Primary B cells from cord blood	blood

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