Variant report

Variant	nsv1066397
Chromosome Location	chr21:47986670-48050534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:322)
CpG islands
(count:1037)
Chromatin interactive
region (count:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr21:48028361-48029224	GM12878	blood:	n/a	n/a
2	ATF3	chr21:48017955-48018252	K562	blood:	n/a	chr21:48018068-48018088
3	BATF	chr21:48028473-48028947	GM12878	blood:	n/a	n/a
4	BATF	chr21:48028436-48029053	GM12878	blood:	n/a	n/a
5	BCLAF1	chr21:48025984-48026402	GM12878	blood:	n/a	n/a
6	BCLAF1	chr21:48028466-48029094	GM12878	blood:	n/a	n/a
7	CBX3	chr21:48014212-48014536	K562	blood:	n/a	n/a
8	CBX3	chr21:48017920-48018249	K562	blood:	n/a	n/a
9	CBX3	chr21:48017809-48018333	K562	blood:	n/a	n/a
10	CEBPB	chr21:47988938-47989373	IMR90	lung:	n/a	n/a
11	CEBPB	chr21:48020264-48020558	K562	blood:	n/a	n/a
12	CEBPB	chr21:47989027-47989372	HepG2	liver:	n/a	n/a
13	CEBPB	chr21:48047791-48047968	K562	blood:	n/a	n/a
14	CEBPB	chr21:47989029-47989304	A549	lung:	n/a	n/a
15	CEBPB	chr21:48047658-48048067	K562	blood:	n/a	n/a
16	CTCF	chr21:48008431-48008493	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr21:48028977-48029064	GM10266	blood:	n/a	n/a
18	CTCF	chr21:47988020-47988170	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr21:47988095-47988122	HepG2	liver:	n/a	n/a
20	CTCF	chr21:47987940-47988090	HL-60	blood:	n/a	n/a
21	CTCF	chr21:47995160-47995310	MCF-7	breast:	n/a	n/a
22	CTCF	chr21:48007283-48007335	LNCaP	prostate:	n/a	n/a
23	CTCF	chr21:47988000-47988150	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr21:48018020-48018170	K562	blood:	n/a	n/a
25	CTCF	chr21:47988042-47988109	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr21:48018080-48018230	K562	blood:	n/a	chr21:48018186-48018199
27	CTCF	chr21:48018165-48018252	K562	blood:	n/a	chr21:48018186-48018199
28	CTCF	chr21:48002020-48002170	HepG2	liver:	n/a	n/a
29	CTCF	chr21:48018005-48018273	K562	blood:	n/a	chr21:48018186-48018199
30	CTCF	chr21:48018060-48018210	Hela-S3	cervix:	n/a	chr21:48018186-48018199
31	CTCF	chr21:48028680-48028830	GM12864	blood:	n/a	n/a
32	CTCF	chr21:48046860-48047010	HepG2	liver:	n/a	n/a
33	CTCF	chr21:48018048-48018372	K562	blood:	n/a	chr21:48018186-48018199
34	CTCF	chr21:47988007-47988145	HepG2	liver:	n/a	n/a
35	CTCF	chr21:47988076-47988108	MCF-7	breast:	n/a	n/a
36	CTCF	chr21:48046900-48047050	HepG2	liver:	n/a	n/a
37	CTCF	chr21:48015320-48015470	GM12866	blood:	n/a	n/a
38	CTCF	chr21:48028993-48029068	GM12878	blood:	n/a	n/a
39	CTCF	chr21:47988074-47988126	MCF-7	breast:	n/a	n/a
40	CTCF	chr21:48018049-48018377	K562	blood:	n/a	chr21:48018186-48018199
41	CTCF	chr21:48028820-48028970	GM12873	blood:	n/a	n/a
42	CTCF	chr21:48018100-48018250	GM12867	blood:	n/a	chr21:48018186-48018199
43	EBF1	chr21:48026020-48026423	GM12878	blood:	n/a	n/a
44	EBF1	chr21:48042233-48042490	GM12878	blood:	n/a	n/a
45	EBF1	chr21:48025973-48026546	GM12878	blood:	n/a	n/a
46	EGR1	chr21:48018016-48018248	K562	blood:	n/a	chr21:48018193-48018206
47	EGR1	chr21:48018008-48018258	K562	blood:	n/a	chr21:48018193-48018206
48	EGR1	chr21:48024963-48025225	K562	blood:	n/a	chr21:48025215-48025224 chr21:48025099-48025108 chr21:48025096-48025109
49	EGR1	chr21:48024900-48025237	H1-hESC	embryonic stem cell:	n/a	chr21:48025215-48025224 chr21:48025099-48025108 chr21:48025096-48025109
50	EGR1	chr21:48024866-48025287	ECC-1	luminal epithelium:	n/a	chr21:48025215-48025224 chr21:48025099-48025108 chr21:48025096-48025109

(count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:48026298-48026348	HCPEpiC	choroid plexus:	n/a
2	chr21:48024639-48024689	HRCEpiC	kidney:	n/a
3	chr21:48026298-48026348	AG10803	skin:	n/a
4	chr21:48026043-48026093	U87	brain:	n/a
5	chr21:48026043-48026093	BE2_C	brain:	n/a
6	chr21:48024683-48024733	MCF-7	breast:	n/a
7	chr21:48026181-48026231	GM12892	blood:	n/a
8	chr21:48025155-48025205	PANC-1	pancreas:	n/a
9	chr21:48017232-48017282	AoSMC	blood vessel:	n/a
10	chr21:48025155-48025205	AG10803	skin:	n/a
11	chr21:48026181-48026231	PrEC	prostate:	n/a
12	chr21:48025691-48025741	Jurkat	blood:	n/a
13	chr21:48025100-48025150	ovcar-3	ovarian:	n/a
14	chr21:48018790-48018840	A549	lung:	n/a
15	chr21:48024683-48024733	HUVEC	blood vessel:	n/a
16	chr21:48018608-48018658	K562	blood:	n/a
17	chr21:48018632-48018682	Hela-S3	cervix:	n/a
18	chr21:47987607-47987657	HEEpiC	esophagus:	n/a
19	chr21:48026181-48026231	PFSK-1	brain:	n/a
20	chr21:48015365-48015415	BJ	skin:	n/a
21	chr21:48026181-48026231	HEK293	kidney:	embryo
22	chr21:48018790-48018840	SK-N-SH_RA	brain:	n/a
23	chr21:48018790-48018840	IMR90	lung:	fetal
24	chr21:48026298-48026348	AG04449	skin:	fetal
25	chr21:48021941-48021991	Hepatocyte	liver:	n/a
26	chr21:48026043-48026093	MCF10A-Er-Src	breast:	n/a
27	chr21:48018790-48018840	LNCaP	prostate:	n/a
28	chr21:47987607-47987657	HIPEpiC	eye:	n/a
29	chr21:48018790-48018840	SAEC	small airway:	n/a
30	chr21:48018632-48018682	IMR90	lung:	fetal
31	chr21:48024639-48024689	AG09309	skin:	n/a
32	chr21:48021941-48021991	AG04449	skin:	fetal
33	chr21:48018790-48018840	ECC-1	luminal epithelium:	n/a
34	chr21:48021941-48021991	HAEpiC	amniotic membrane:	n/a
35	chr21:48019296-48019346	AG09319	gingival:	n/a
36	chr21:48025155-48025205	ovcar-3	ovarian:	n/a
37	chr21:48018632-48018682	GM12892	blood:	n/a
38	chr21:48015365-48015415	GM06990	blood:	n/a
39	chr21:48024683-48024733	HCPEpiC	choroid plexus:	n/a
40	chr21:48017232-48017282	AG04449	skin:	fetal
41	chr21:48018790-48018840	HNPCEpiC	eye:	n/a
42	chr21:48025100-48025150	ECC-1	luminal epithelium:	n/a
43	chr21:48018608-48018658	PFSK-1	brain:	n/a
44	chr21:47987607-47987657	HEK293	kidney:	embryo
45	chr21:48018790-48018840	BE2_C	brain:	n/a
46	chr21:48026181-48026231	PANC-1	pancreas:	n/a
47	chr21:48025100-48025150	BE2_C	brain:	n/a
48	chr21:48017232-48017282	IMR90	lung:	fetal
49	chr21:48025100-48025150	NT2-D1	testis:	n/a
50	chr21:48017232-48017282	BE2_C	brain:	n/a

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:48044131..48047004-chr21:48048003..48050751,2	MCF-7	breast:
2	chr21:48016422..48019126-chr21:48030129..48032645,2	K562	blood:
3	chr21:48024575..48027546-chr21:48055306..48056858,2	K562	blood:
4	chr21:48027694..48030453-chr21:48039157..48041006,2	MCF-7	breast:
5	chr21:48003128..48004642-chr21:48053741..48055698,2	MCF-7	breast:
6	chr21:48013557..48016686-chr21:48017781..48019868,3	MCF-7	breast:
7	chr21:47980753..47982887-chr21:48026648..48028879,2	MCF-7	breast:
8	chr21:48016422..48019126-chr21:48030129..48032645,2	K562	blood:
9	chr21:48044480..48047952-chr21:48055875..48058667,3	MCF-7	breast:
10	chr21:48048775..48050687-chr21:48053494..48055105,2	MCF-7	breast:
11	chr21:48016127..48018173-chr21:48020936..48022713,2	K562	blood:
12	chr21:48010670..48012334-chr21:48047542..48049804,2	K562	blood:
13	chr21:48005218..48007630-chr21:48055834..48057649,2	K562	blood:
14	chr21:48042730..48044237-chr21:48044461..48046707,2	K562	blood:
15	chr21:48017941..48023722-chr21:48025363..48028133,5	K562	blood:
16	chr21:47995242..47996902-chr21:48001318..48004298,2	K562	blood:
17	chr21:47982466..47985451-chr21:47987034..47988568,2	MCF-7	breast:
18	chr21:48043420..48045155-chr21:48055192..48058063,2	K562	blood:
19	chr21:47990428..47992783-chr21:47994801..47997759,2	K562	blood:
20	chr21:48043562..48050060-chr21:48053506..48056859,7	MCF-7	breast:
21	chr21:47990428..47992783-chr21:47994801..47997759,2	K562	blood:
22	chr21:47973166..47976163-chr21:48002439..48005009,2	K562	blood:
23	chr21:48025522..48028149-chr21:48060514..48063166,2	MCF-7	breast:
24	chr21:47872410..47874001-chr21:47987885..47990582,2	K562	blood:
25	chr21:47995242..47996902-chr21:48001318..48004298,2	K562	blood:
26	chr21:48013557..48016686-chr21:48017781..48019868,3	MCF-7	breast:
27	chr21:48028979..48030812-chr21:48051870..48054019,2	K562	blood:
28	chr21:48016127..48018173-chr21:48020936..48022713,2	K562	blood:
29	chr21:48010670..48012334-chr21:48047542..48049804,2	K562	blood:
30	chr21:48017805..48022026-chr21:48053687..48056894,4	K562	blood:
31	chr21:47986444..47988898-chr21:48015731..48017367,2	K562	blood:
32	chr21:48042730..48044237-chr21:48044461..48046707,2	K562	blood:
33	chr21:48025603..48028303-chr21:48029330..48031658,3	MCF-7	breast:
34	chr21:48031009..48033882-chr21:48053845..48056552,2	MCF-7	breast:
35	chr21:47986038..47989683-chr21:48053926..48057221,4	MCF-7	breast:
36	chr21:47984970..47986522-chr21:48008602..48011495,2	K562	blood:
37	chr21:48045325..48047440-chr21:48054807..48056877,2	K562	blood:
38	chr21:48025603..48028303-chr21:48029330..48031658,3	MCF-7	breast:
39	chr21:48021498..48023722-chr21:48025363..48027869,3	K562	blood:
40	chr21:47877021..47880570-chr21:47984512..47987705,4	K562	blood:
41	chr21:48048002..48052146-chr21:48052427..48057052,6	K562	blood:
42	chr21:48044131..48047004-chr21:48048003..48050751,2	MCF-7	breast:
43	chr21:47920604..47922605-chr21:48015742..48017826,2	K562	blood:
44	chr21:48043406..48045723-chr21:48050633..48054621,3	K562	blood:
45	chr21:48002194..48004914-chr21:48055144..48057333,3	MCF-7	breast:
46	chr21:48021540..48023901-chr21:48055495..48057109,2	MCF-7	breast:
47	chr21:47986444..47988898-chr21:48015731..48017367,2	K562	blood:
48	chr21:47977884..47980372-chr21:47985950..47987706,2	K562	blood:
49	chr21:48027694..48030453-chr21:48039157..48041006,2	MCF-7	breast:
50	chr21:48019242..48021637-chr21:48023777..48026826,3	MCF-7	breast:

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
PRMT2	TF binding region
S100B	TF binding region
PRMT2	CpG island
S100B	CpG island
ENSG00000160310	chromatin interactions
ENSG00000160305	chromatin interactions
ENSG00000160307	chromatin interactions

Extended variants
information (count: 2529 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:2529 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9975723	chr21:47986670-47986671	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9976401	chr21:47986697-47986698	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs35945564	chr21:47986758-47986759	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs9975751	chr21:47986759-47986760	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs9976818	chr21:47986766-47986767	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs2839336	chr21:47986811-47986812	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs562978467	chr21:47986825-47986826	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs113281173	chr21:47986854-47986855	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs9976848	chr21:47986859-47986860	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs527546815	chr21:47986873-47986874	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs111245099	chr21:47986875-47986876	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs563893728	chr21:47986913-47986914	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs531320803	chr21:47986983-47986984	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2839337	chr21:47987167-47987168	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs568149756	chr21:47987183-47987184	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs17303582	chr21:47987185-47987186	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs11909369	chr21:47987186-47987187	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141260864	chr21:47987193-47987194	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534191607	chr21:47987235-47987236	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs370197626	chr21:47987249-47987250	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs559186731	chr21:47987255-47987256	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113169103	chr21:47987260-47987261	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs368831850	chr21:47987327-47987328	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs372825909	chr21:47987376-47987377	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs368627410	chr21:47987388-47987389	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs577146649	chr21:47987391-47987392	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs375762789	chr21:47987401-47987402	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs146953731	chr21:47987412-47987413	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs373066727	chr21:47987467-47987468	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs375026916	chr21:47987468-47987469	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs556179222	chr21:47987470-47987471	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs185796425	chr21:47987478-47987479	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs542314300	chr21:47987484-47987485	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs369212003	chr21:47987485-47987486	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs201440461	chr21:47987517-47987518	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs190999418	chr21:47987520-47987521	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs376994848	chr21:47987538-47987539	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs200312534	chr21:47987541-47987542	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs545714964	chr21:47987543-47987544	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs8127941	chr21:47987547-47987548	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs376887750	chr21:47987548-47987549	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs199589559	chr21:47987559-47987560	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs376255640	chr21:47987564-47987565	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs549753889	chr21:47987568-47987569	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs561666831	chr21:47987573-47987574	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201574827	chr21:47987585-47987586	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs9980058	chr21:47987588-47987589	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565670027	chr21:47987598-47987599	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs530235267	chr21:47987599-47987600	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs534380913	chr21:47987670-47987671	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

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:1475 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47943600-47990600	Strong transcription	Fetal Stomach	stomach
2	chr21:47947600-47989000	Strong transcription	Dnd41	blood
3	chr21:47947600-47991000	Strong transcription	Fetal Muscle Leg	muscle
4	chr21:47948400-47993600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:47948600-47993200	Strong transcription	Fetal Intestine Large	intestine
6	chr21:47949000-47988200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:47949000-47993600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr21:47949800-47991800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:47950000-47989200	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr21:47950000-47991000	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr21:47950200-47993200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr21:47953000-47988200	Strong transcription	Gastric	stomach
13	chr21:47953000-47988600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr21:47953200-47988400	Strong transcription	Fetal Intestine Small	intestine
15	chr21:47953200-47993000	Strong transcription	Osteobl	bone
16	chr21:47953400-47988000	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr21:47956200-48001800	Weak transcription	Stomach Mucosa	stomach
18	chr21:47961600-47992800	Strong transcription	Brain Hippocampus Middle	brain
19	chr21:47964600-47988400	Strong transcription	Brain Germinal Matrix	brain
20	chr21:47965200-47991200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr21:47965800-47988600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:47965800-47993400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:47966200-47993400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr21:47966400-47987800	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr21:47966600-47988200	Strong transcription	Esophagus	oesophagus
26	chr21:47967400-47994800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr21:47968600-47990800	Strong transcription	Fetal Brain Female	brain
28	chr21:47969400-47987600	Strong transcription	Aorta	Aorta
29	chr21:47969600-47988200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr21:47969600-47988400	Strong transcription	Colonic Mucosa	Colon
31	chr21:47969800-47989200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr21:47970200-47992400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr21:47970400-47988200	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr21:47970400-47993200	Strong transcription	Brain Cingulate Gyrus	brain
35	chr21:47971000-47989200	Strong transcription	Placenta	Placenta
36	chr21:47971600-47991600	Strong transcription	Brain Substantia Nigra	brain
37	chr21:47972000-47988800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr21:47973200-47993000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr21:47973400-47993200	Strong transcription	Rectal Smooth Muscle	rectum
40	chr21:47973600-47989600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:47973600-47990600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr21:47973600-47991600	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr21:47973600-47992600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr21:47973800-47990600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr21:47974200-47988200	Strong transcription	NHLF	lung
46	chr21:47974200-47991200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr21:47974400-47987800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr21:47975200-47992800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr21:47975600-47988600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr21:47975800-47991000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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