Variant report

Variant	nsv1006170
Chromosome Location	chr2:55530179-55809251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3252)
CpG islands
(count:2201)
Chromatin interactive
region (count:201)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:3252 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:55650618-55650928	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:55687010-55687270	K562	blood:	n/a	n/a
3	ARID3A	chr2:55644759-55644943	K562	blood:	n/a	n/a
4	ARID3A	chr2:55746498-55746737	K562	blood:	n/a	n/a
5	ARID3A	chr2:55645539-55645579	K562	blood:	n/a	n/a
6	ARID3A	chr2:55808595-55808913	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:55569819-55570013	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:55709685-55709688	K562	blood:	n/a	n/a
9	ARID3A	chr2:55646778-55647491	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:55746449-55746882	HepG2	liver:	n/a	n/a
11	ARID3A	chr2:55592432-55592822	K562	blood:	n/a	n/a
12	ARID3A	chr2:55808592-55808933	K562	blood:	n/a	n/a
13	ARID3A	chr2:55646945-55647235	K562	blood:	n/a	n/a
14	ARID3A	chr2:55727308-55727534	K562	blood:	n/a	n/a
15	ARID3A	chr2:55659185-55659546	K562	blood:	n/a	n/a
16	ARID3A	chr2:55738619-55738953	K562	blood:	n/a	n/a
17	ARID3A	chr2:55618268-55619692	K562	blood:	n/a	n/a
18	ATF1	chr2:55686492-55686745	K562	blood:	n/a	n/a
19	ATF1	chr2:55746413-55746890	K562	blood:	n/a	n/a
20	ATF1	chr2:55668598-55669016	K562	blood:	n/a	n/a
21	ATF1	chr2:55592548-55592774	K562	blood:	n/a	n/a
22	ATF2	chr2:55709386-55709713	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr2:55538318-55539135	GM12878	blood:	n/a	n/a
24	ATF2	chr2:55646893-55647484	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr2:55538284-55539073	GM12878	blood:	n/a	n/a
26	ATF2	chr2:55646647-55647143	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr2:55646788-55647339	GM12878	blood:	n/a	n/a
28	ATF2	chr2:55746359-55746968	GM12878	blood:	n/a	n/a
29	ATF3	chr2:55646763-55647755	A549	lung:	n/a	chr2:55647255-55647264 chr2:55647237-55647246
30	ATF3	chr2:55668631-55668999	K562	blood:	n/a	n/a
31	ATF3	chr2:55646605-55647368	A549	lung:	n/a	chr2:55647255-55647264 chr2:55647237-55647246
32	ATF3	chr2:55716695-55717073	HCT-116	colon:	n/a	n/a
33	BACH1	chr2:55646637-55646942	K562	blood:	n/a	n/a
34	BACH1	chr2:55746834-55747011	K562	blood:	n/a	n/a
35	BACH1	chr2:55727252-55727522	K562	blood:	n/a	n/a
36	BACH1	chr2:55717677-55718117	H1-hESC	embryonic stem cell:	n/a	chr2:55717897-55717911
37	BACH1	chr2:55658604-55658713	K562	blood:	n/a	n/a
38	BACH1	chr2:55646842-55647210	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr2:55727236-55727462	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr2:55687638-55687956	K562	blood:	n/a	n/a
41	BACH1	chr2:55659208-55659415	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr2:55717835-55718065	K562	blood:	n/a	chr2:55717897-55717911
43	BACH1	chr2:55646254-55646295	K562	blood:	n/a	n/a
44	BATF	chr2:55655403-55655677	GM12878	blood:	n/a	chr2:55655575-55655586
45	BATF	chr2:55623002-55623354	GM12878	blood:	n/a	n/a
46	BATF	chr2:55796241-55796430	GM12878	blood:	n/a	n/a
47	BATF	chr2:55727291-55727547	GM12878	blood:	n/a	n/a
48	BATF	chr2:55638457-55638693	GM12878	blood:	n/a	n/a
49	BATF	chr2:55655405-55655712	GM12878	blood:	n/a	chr2:55655575-55655586
50	BATF	chr2:55538455-55539013	GM12878	blood:	n/a	n/a

(count:2201 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:55746572-55746622	LNCaP	prostate:	n/a
2	chr2:55647123-55647173	ovcar-3	ovarian:	n/a
3	chr2:55747633-55747683	CMK	blood:	n/a
4	chr2:55642894-55642944	HEEpiC	esophagus:	n/a
5	chr2:55646430-55646480	SK-N-SH	brain:	n/a
6	chr2:55746572-55746622	LNCaP	prostate:	n/a
7	chr2:55647123-55647173	ovcar-3	ovarian:	n/a
8	chr2:55747633-55747683	CMK	blood:	n/a
9	chr2:55642894-55642944	HEEpiC	esophagus:	n/a
10	chr2:55646430-55646480	SK-N-SH	brain:	n/a
11	chr2:55746074-55746124	K562	blood:	n/a
12	chr2:55646622-55646672	Caco-2	colon:	n/a
13	chr2:55717980-55718030	HCPEpiC	choroid plexus:	n/a
14	chr2:55669528-55669578	HCM	heart:	n/a
15	chr2:55566679-55566729	HUVEC	blood vessel:	n/a
16	chr2:55669512-55669562	T-47D	breast:	n/a
17	chr2:55647401-55647451	HNPCEpiC	eye:	n/a
18	chr2:55747270-55747320	LNCaP	prostate:	n/a
19	chr2:55743936-55743986	NT2-D1	testis:	n/a
20	chr2:55746709-55746759	T-47D	breast:	n/a
21	chr2:55556201-55556251	PANC-1	pancreas:	n/a
22	chr2:55647480-55647530	GM12891	blood:	n/a
23	chr2:55717980-55718030	HRPEpiC	eye:	n/a
24	chr2:55563533-55563583	HepG2	liver:	n/a
25	chr2:55566679-55566729	T-47D	breast:	n/a
26	chr2:55746998-55747048	ovcar-3	ovarian:	n/a
27	chr2:55617438-55617488	PFSK-1	brain:	n/a
28	chr2:55646430-55646480	MCF-7	breast:	n/a
29	chr2:55650017-55650067	PrEC	prostate:	n/a
30	chr2:55747633-55747683	SK-N-SH_RA	brain:	n/a
31	chr2:55746709-55746759	ECC-1	luminal epithelium:	n/a
32	chr2:55617438-55617488	HCT-116	colon:	n/a
33	chr2:55647419-55647469	IMR90	lung:	fetal
34	chr2:55669528-55669578	Caco-2	colon:	n/a
35	chr2:55746825-55746875	NHBE	bronchial:	n/a
36	chr2:55746645-55746695	GM06990	blood:	n/a
37	chr2:55669528-55669578	HRCEpiC	kidney:	n/a
38	chr2:55647480-55647530	Hepatocyte	liver:	n/a
39	chr2:55647419-55647469	AG09309	skin:	n/a
40	chr2:55642894-55642944	U87	brain:	n/a
41	chr2:55746762-55746812	SKMC	muscle:	n/a
42	chr2:55647419-55647469	ProgFib	skin:	n/a
43	chr2:55746645-55746695	HEEpiC	esophagus:	n/a
44	chr2:55746762-55746812	U87	brain:	n/a
45	chr2:55747775-55747825	Caco-2	colon:	n/a
46	chr2:55647401-55647451	HCPEpiC	choroid plexus:	n/a
47	chr2:55556195-55556245	HCPEpiC	choroid plexus:	n/a
48	chr2:55746825-55746875	HMEC	breast:	n/a
49	chr2:55746547-55746597	SK-N-SH_RA	brain:	n/a
50	chr2:55746549-55746599	BE2_C	brain:	n/a

(count:201 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr2:55540693..55542535-chr2:55543595..55545823,2	K562	blood:
2	chr2:55494777..55497283-chr2:55655320..55657862,3	MCF-7	breast:
3	chr2:55635517..55637604-chr2:55646032..55648354,3	K562	blood:
4	chr2:55458173..55459835-chr2:55636615..55639548,2	K562	blood:
5	chr2:55805782..55807351-chr2:55817870..55819389,2	K562	blood:
6	chr2:55567779..55569483-chr2:55585601..55588441,2	MCF-7	breast:
7	chr2:55458753..55460899-chr2:55659427..55661705,2	MCF-7	breast:
8	chr2:55745086..55746689-chr2:55776287..55778878,2	MCF-7	breast:
9	chr2:55543117..55545665-chr2:55550405..55552133,2	K562	blood:
10	chr2:55596421..55599307-chr2:55605325..55607627,2	MCF-7	breast:
11	chr2:55546328..55548637-chr2:55556115..55557896,2	K562	blood:
12	chr2:55782828..55785578-chr2:55789792..55791305,2	MCF-7	breast:
13	chr2:55716556..55719523-chr2:55720351..55723403,5	K562	blood:
14	chr2:55749760..55752238-chr2:55760020..55761976,2	K562	blood:
15	chr2:55627338..55628874-chr2:55629453..55631312,2	MCF-7	breast:
16	chr2:55641621..55644231-chr2:55715263..55717892,2	K562	blood:
17	chr2:55536648..55539597-chr2:55541310..55544144,3	K562	blood:
18	chr2:55627338..55628874-chr2:55629453..55631312,2	MCF-7	breast:
19	chr2:55745086..55746689-chr2:55776287..55778878,2	MCF-7	breast:
20	chr2:55641053..55643696-chr2:55844144..55845979,2	K562	blood:
21	chr2:55716556..55719523-chr2:55721485..55723403,3	K562	blood:
22	chr2:55615003..55618126-chr2:55622970..55626824,3	K562	blood:
23	chr2:55508669..55511212-chr2:55645960..55648569,3	MCF-7	breast:
24	chr2:55652880..55655236-chr2:55657266..55660173,3	MCF-7	breast:
25	chr11:126173393..126174206-chr2:55646462..55646964,2	Hela-S3	cervix:
26	chr2:55734348..55736732-chr2:55747645..55749289,2	K562	blood:
27	chr2:55463589..55465767-chr2:55732207..55734884,2	MCF-7	breast:
28	chr2:55644452..55648722-chr2:55843350..55848689,7	K562	blood:
29	chr2:55643936..55648492-chr2:55843198..55848689,6	K562	blood:
30	chr2:55793493..55797277-chr2:55842586..55846182,5	MCF-7	breast:
31	chr2:55771544..55774381-chr2:55776715..55779906,3	K562	blood:
32	chr2:55646192..55651046-chr2:55651862..55657167,5	K562	blood:
33	chr2:55463171..55466180-chr2:55659869..55661423,3	MCF-7	breast:
34	chr2:55615003..55618126-chr2:55622970..55626824,3	K562	blood:
35	chr2:55458950..55461087-chr2:55647562..55649544,2	K562	blood:
36	chr2:55728050..55729964-chr2:55747020..55749706,2	MCF-7	breast:
37	chr2:55550452..55552052-chr2:55563952..55565660,2	MCF-7	breast:
38	chr2:55645285..55648583-chr2:55745099..55748276,4	K562	blood:
39	chr2:55461063..55464036-chr2:55678930..55681673,2	MCF-7	breast:
40	chr2:55629328..55632200-chr2:55634808..55637417,2	K562	blood:
41	chr2:55627632..55629326-chr2:55632488..55634437,2	K562	blood:
42	chr2:55727452..55730813-chr2:55743534..55747364,4	K562	blood:
43	chr2:55806123..55808942-chr2:55812057..55814728,2	MCF-7	breast:
44	chr2:55687006..55688643-chr2:55695301..55697827,2	K562	blood:
45	chr2:55747318..55749114-chr2:55750754..55752618,2	MCF-7	breast:
46	chr2:55495061..55497055-chr2:55740247..55742964,2	MCF-7	breast:
47	chr2:55793433..55795260-chr2:55800146..55802236,2	MCF-7	breast:
48	chr2:55745295..55748178-chr2:55844853..55846436,2	K562	blood:
49	chr2:55735103..55738045-chr2:55741187..55743259,2	K562	blood:
50	chr2:55738996..55741436-chr2:55745150..55747793,3	MCF-7	breast:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPS27A-1	chr2:55566639-55567304	ENSG00000240401.4
2	lnc-RPS27A-1	chr2:55541124-55541797	ENSG00000240401.4
3	lnc-RPS27A-1	chr2:55541124-55541797	ENSG00000240401.2
4	lnc-RPS27A-1	chr2:55541298-55541387	ENSG00000240401.4
5	lnc-RPS27A-1	chr2:55566639-55567446	ENSG00000240401.4
6	lnc-CCDC104-1	chr2:55743750-55744885	NONHSAT070794
7	lnc-RPS27A-1	chr2:55541298-55541387	ENSG00000240401.4
8	lnc-RPS27A-1	chr2:55572493-55573185	ENSG00000240401.4
9	lnc-CCDC104-2	chr2:55705577-55707573	NONHSAT070792
10	lnc-CCDC104-5	chr2:55646412-55648361	NONHSAT070787
11	lnc-CCDC104-2	chr2:55711689-55712077	NONHSAT070792
12	lnc-MTIF2-4	chr2:55628085-55628362	expReg_chr2_4282_-
13	lnc-RPS27A-1	chr2:55535967-55536063	ENSG00000240401.2
14	lnc-RPS27A-1	chr2:55541298-55541387	ENSG00000240401.4
15	lnc-CCDC104-1	chr2:55742139-55742204	NONHSAT070794
16	lnc-RPS27A-1	chr2:55535628-55536063	ENSG00000240401.4
17	lnc-RPS27A-1	chr2:55566639-55566931	ENSG00000240401.4
18	lnc-CCDC88A-1	chr2:55662292-55662758	NONHSAT070788
19	lnc-RPS27A-1	chr2:55556558-55556655	ENSG00000240401.4
20	lnc-RPS27A-1	chr2:55556558-55556849	ENSG00000240401.4
21	lnc-RPS27A-1	chr2:55541218-55541387	ENSG00000240401.4

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SMEK2	hsa-miR-16-5p	chr2:55776024-55776045
2	SMEK2	hsa-miR-106b-5p	chr2:55776362-55776382

Variant related genes	Relation type
BTF3P5	TF binding region
RNU6-775P	TF binding region
ENSG00000240401	TF binding region
ENSG00000212175	TF binding region
SMEK2	TF binding region
RNU6-221P	TF binding region
CCDC88A	TF binding region
ENSG00000264849	TF binding region
CCDC104	TF binding region
RNU6-634P	TF binding region
BTF3P5	CpG island
RNU6-775P	CpG island
ENSG00000240401	CpG island
ENSG00000212175	CpG island
SMEK2	CpG island
RNU6-221P	CpG island
CCDC88A	CpG island
ENSG00000264849	CpG island
CCDC104	CpG island
RNU6-634P	CpG island
ENSG00000163938	chromatin interactions
ENSG00000240401	chromatin interactions
ENSG00000143947	chromatin interactions
ENSG00000066027	chromatin interactions
ENSG00000115998	chromatin interactions
ENSG00000213516	chromatin interactions
ENSG00000096696	chromatin interactions
ENSG00000238619	chromatin interactions
ENSG00000230679	chromatin interactions
ENSG00000162994	chromatin interactions
ENSG00000162775	chromatin interactions
ENSG00000212175	chromatin interactions
ENSG00000137944	chromatin interactions
ENSG00000272606	chromatin interactions
ENSG00000138041	chromatin interactions
ENSG00000145715	chromatin interactions
ENSG00000113360	chromatin interactions
ENSG00000074800	chromatin interactions
ENSG00000082213	chromatin interactions
ENSG00000110063	chromatin interactions
ENSG00000239189	chromatin interactions
ENSG00000085760	chromatin interactions
ENSG00000163001	chromatin interactions
ENSG00000115355	chromatin interactions
ENSG00000143384	chromatin interactions
ENSG00000162997	chromatin interactions
ENSG00000264849	chromatin interactions

Extended variants
information (count: 10535 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:10535 , 50 per page) page: 1 2 3 4 5 6 7 ... 211

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374371106	chr2:55530206-55530207	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546753387	chr2:55530281-55530282	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566945391	chr2:55530394-55530395	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369811390	chr2:55530473-55530474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188678800	chr2:55530487-55530488	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181116838	chr2:55530522-55530523	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540950941	chr2:55530525-55530526	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397965492	chr2:55530545-55530546	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560898024	chr2:55530554-55530555	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568871045	chr2:55530648-55530649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184504626	chr2:55530662-55530663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537805583	chr2:55530683-55530684	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs189377276	chr2:55530688-55530689	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs386646308	chr2:55530738-55530739	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs533986786	chr2:55530739-55530740	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs182267573	chr2:55530740-55530741	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs75353618	chr2:55530744-55530745	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs573748890	chr2:55530759-55530760	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs542934365	chr2:55530782-55530783	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs186343464	chr2:55530796-55530797	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs575618087	chr2:55530808-55530809	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs190793551	chr2:55530809-55530810	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs569677423	chr2:55530812-55530813	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs59554860	chr2:55530864-55530865	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs536264460	chr2:55530874-55530875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552768616	chr2:55530888-55530889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540326803	chr2:55530890-55530891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17046834	chr2:55530916-55530917	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529451104	chr2:55530923-55530924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372837176	chr2:55530930-55530931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549668694	chr2:55530940-55530941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569421324	chr2:55530977-55530978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13421090	chr2:55531026-55531027	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs62137094	chr2:55531066-55531067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78742007	chr2:55531086-55531087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571253916	chr2:55531165-55531166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533917960	chr2:55531187-55531188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13398447	chr2:55531238-55531239	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567485061	chr2:55531264-55531265	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs536024175	chr2:55531286-55531287	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs181564094	chr2:55531353-55531354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575893616	chr2:55531366-55531367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554337071	chr2:55531370-55531371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544896084	chr2:55531377-55531378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557780037	chr2:55531390-55531391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74593437	chr2:55531506-55531507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540755657	chr2:55531520-55531521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17046835	chr2:55531531-55531532	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529510454	chr2:55531558-55531559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138348270	chr2:55531589-55531590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Ependymoma	20639864	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:5524 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55509000-55541200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:55509400-55545200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:55510000-55541600	Weak transcription	Esophagus	oesophagus
4	chr2:55510000-55553600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:55510000-55578800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:55510200-55542200	Weak transcription	Fetal Intestine Large	intestine
7	chr2:55510200-55559000	Weak transcription	Psoas Muscle	Psoas
8	chr2:55510200-55616800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:55510600-55533800	Weak transcription	Pancreas	Pancrea
10	chr2:55510600-55536600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:55510600-55537400	Weak transcription	Lung	lung
12	chr2:55510800-55542200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:55511000-55540600	Weak transcription	Spleen	Spleen
14	chr2:55511200-55542200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:55511200-55547000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:55512000-55549800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:55512400-55577400	Weak transcription	Right Ventricle	heart
18	chr2:55512600-55546000	Weak transcription	Small Intestine	intestine
19	chr2:55513600-55531400	Strong transcription	Dnd41	blood
20	chr2:55514800-55549600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:55515800-55550400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:55518600-55532200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:55518600-55591400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:55519400-55533400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:55519800-55579000	Weak transcription	Primary B cells from cord blood	blood
26	chr2:55520000-55538800	Weak transcription	Ovary	ovary
27	chr2:55520000-55541200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:55520200-55531600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:55520200-55539000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:55520200-55554400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:55520400-55591200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:55521400-55591000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr2:55521800-55531600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:55523000-55534800	Weak transcription	Primary T cells from cord blood	blood
35	chr2:55523000-55534800	Weak transcription	Liver	Liver
36	chr2:55523000-55537400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:55523000-55538800	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:55523000-55548000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:55523000-55584400	Weak transcription	Aorta	Aorta
40	chr2:55523200-55537800	Weak transcription	HSMMtube	muscle
41	chr2:55523200-55584800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:55523600-55533800	Weak transcription	NHLF	lung
43	chr2:55523600-55534400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:55523600-55535800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:55523600-55537400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:55523600-55537800	Weak transcription	Fetal Heart	heart
47	chr2:55523600-55541000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:55523600-55542000	Weak transcription	Fetal Brain Male	brain
49	chr2:55523600-55548000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:55523600-55600600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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