Variant report

Variant	nsv899571
Chromosome Location	chr12:123215734-123363562
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4099)
CpG islands
(count:5311)
Chromatin interactive
region (count:211)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:4099 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123320826-123321038	K562	blood:	n/a	n/a
2	ARID3A	chr12:123241678-123241839	K562	blood:	n/a	n/a
3	ARID3A	chr12:123315476-123315703	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:123278188-123278671	K562	blood:	n/a	chr12:123278647-123278663
5	ARID3A	chr12:123350353-123350550	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:123351032-123351227	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:123347476-123347522	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:123278182-123278546	HepG2	liver:	n/a	n/a
9	ARID3A	chr12:123320755-123321036	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:123310598-123311055	HepG2	liver:	n/a	n/a
11	ATF1	chr12:123321174-123321429	K562	blood:	n/a	n/a
12	ATF1	chr12:123224966-123225337	K562	blood:	n/a	n/a
13	ATF1	chr12:123307295-123307484	K562	blood:	n/a	n/a
14	ATF1	chr12:123222244-123222405	K562	blood:	n/a	n/a
15	ATF1	chr12:123278261-123278567	K562	blood:	n/a	n/a
16	ATF1	chr12:123316788-123316803	K562	blood:	n/a	n/a
17	ATF1	chr12:123274265-123274532	K562	blood:	n/a	n/a
18	ATF1	chr12:123341887-123342008	K562	blood:	n/a	n/a
19	ATF1	chr12:123315410-123315718	K562	blood:	n/a	n/a
20	ATF2	chr12:123237004-123237671	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr12:123237047-123237675	GM12878	blood:	n/a	n/a
22	ATF2	chr12:123236935-123237616	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr12:123360126-123360795	GM12878	blood:	n/a	n/a
24	ATF2	chr12:123293253-123293792	GM12878	blood:	n/a	n/a
25	ATF2	chr12:123320995-123321471	GM12878	blood:	n/a	n/a
26	ATF2	chr12:123293318-123293809	GM12878	blood:	n/a	n/a
27	ATF2	chr12:123360019-123360861	GM12878	blood:	n/a	n/a
28	ATF2	chr12:123218039-123218555	GM12878	blood:	n/a	n/a
29	ATF2	chr12:123356505-123357148	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr12:123356483-123357095	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr12:123236897-123237634	GM12878	blood:	n/a	n/a
32	ATF2	chr12:123356194-123356888	GM12878	blood:	n/a	n/a
33	ATF3	chr12:123237000-123237578	A549	lung:	n/a	n/a
34	ATF3	chr12:123234478-123234751	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF3	chr12:123315403-123315683	K562	blood:	n/a	chr12:123315669-123315682
36	ATF3	chr12:123234512-123234746	K562	blood:	n/a	n/a
37	ATF3	chr12:123236980-123237313	K562	blood:	n/a	n/a
38	ATF3	chr12:123315325-123315839	K562	blood:	n/a	chr12:123315669-123315682
39	ATF3	chr12:123236844-123237839	A549	lung:	n/a	chr12:123237734-123237743
40	ATF3	chr12:123224953-123225241	K562	blood:	n/a	n/a
41	ATF3	chr12:123234362-123234742	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr12:123344894-123345025	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr12:123356432-123357245	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr12:123236963-123237550	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr12:123318976-123319114	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr12:123258905-123259114	H1-hESC	embryonic stem cell:	n/a	n/a
47	BATF	chr12:123356270-123356667	GM12878	blood:	n/a	n/a
48	BATF	chr12:123356254-123356541	GM12878	blood:	n/a	n/a
49	BATF	chr12:123293342-123293641	GM12878	blood:	n/a	n/a
50	BATF	chr12:123360130-123360752	GM12878	blood:	n/a	n/a

(count:5311 , 50 per page) page: 1 2 3 4 5 6 7 ... 107

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123351782-123351832	U87	brain:	n/a
2	chr12:123259751-123259801	HL-60	blood:	n/a
3	chr12:123336568-123336618	HCPEpiC	choroid plexus:	n/a
4	chr12:123215684-123215734	NHBE	bronchial:	n/a
5	chr12:123351782-123351832	U87	brain:	n/a
6	chr12:123259751-123259801	HL-60	blood:	n/a
7	chr12:123336568-123336618	HCPEpiC	choroid plexus:	n/a
8	chr12:123215684-123215734	NHBE	bronchial:	n/a
9	chr12:123340981-123341031	BJ	skin:	n/a
10	chr12:123336568-123336618	AoSMC	blood vessel:	n/a
11	chr12:123347897-123347947	HRPEpiC	eye:	n/a
12	chr12:123237174-123237224	HEK293	kidney:	embryo
13	chr12:123340818-123340868	NHDF-neo	bronchial:	n/a
14	chr12:123335444-123335494	NT2-D1	testis:	n/a
15	chr12:123351548-123351598	AG10803	skin:	n/a
16	chr12:123335444-123335494	K562	blood:	n/a
17	chr12:123237325-123237375	SAEC	small airway:	n/a
18	chr12:123341735-123341785	SK-N-SH	brain:	n/a
19	chr12:123339246-123339296	BE2_C	brain:	n/a
20	chr12:123259105-123259155	HMEC	breast:	n/a
21	chr12:123237179-123237229	NHBE	bronchial:	n/a
22	chr12:123347897-123347947	GM12892	blood:	n/a
23	chr12:123237082-123237132	HepG2	liver:	n/a
24	chr12:123315780-123315830	NHDF-neo	bronchial:	n/a
25	chr12:123333205-123333255	T-47D	breast:	n/a
26	chr12:123319250-123319300	SAEC	small airway:	n/a
27	chr12:123258742-123258792	HCM	heart:	n/a
28	chr12:123258876-123258926	ECC-1	luminal epithelium:	n/a
29	chr12:123258347-123258397	HL-60	blood:	n/a
30	chr12:123319900-123319950	BE2_C	brain:	n/a
31	chr12:123259107-123259157	GM12891	blood:	n/a
32	chr12:123350077-123350127	HL-60	blood:	n/a
33	chr12:123240082-123240132	NB4	blood:	n/a
34	chr12:123351782-123351832	HUVEC	blood vessel:	n/a
35	chr12:123334709-123334759	HRE	kidney:	n/a
36	chr12:123319981-123320031	T-47D	breast:	n/a
37	chr12:123339246-123339296	NHDF-neo	bronchial:	n/a
38	chr12:123347684-123347734	ProgFib	skin:	n/a
39	chr12:123258897-123258947	AG04450	lung:	fetal
40	chr12:123333205-123333255	NH-A	brain:	n/a
41	chr12:123351652-123351702	MCF-7	breast:	n/a
42	chr12:123352600-123352650	HIPEpiC	eye:	n/a
43	chr12:123352680-123352730	HRPEpiC	eye:	n/a
44	chr12:123351798-123351848	SK-N-SH	brain:	n/a
45	chr12:123258997-123259047	HCPEpiC	choroid plexus:	n/a
46	chr12:123339114-123339164	HMEC	breast:	n/a
47	chr12:123340936-123340986	ovcar-3	ovarian:	n/a
48	chr12:123311608-123311658	AG04449	skin:	fetal
49	chr12:123339246-123339296	SK-N-MC	brain:	n/a
50	chr12:123351798-123351848	BE2_C	brain:	n/a

(count:211 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr12:123344434..123345913-chr12:123436269..123437707,10	MCF-7	breast:
2	chr12:123238831..123241480-chr12:123248659..123252365,6	K562	blood:
3	chr12:123228452..123230075-chr12:123232687..123234808,2	K562	blood:
4	chr12:123277884..123278858-chr12:123344487..123345780,4	MCF-7	breast:
5	chr12:123318440..123320805-chr12:123633475..123636263,2	MCF-7	breast:
6	chr12:123278724..123280255-chr12:123285418..123287596,2	MCF-7	breast:
7	chr12:123347975..123349618-chr12:123459301..123462302,3	K562	blood:
8	chr12:123336928..123338440-chr12:123360381..123363029,2	K562	blood:
9	chr12:122984002..122986497-chr12:123237253..123240252,3	MCF-7	breast:
10	chr12:123246432..123248204-chr12:123249430..123252704,3	K562	blood:
11	chr12:123329734..123338030-chr12:123339120..123345153,11	MCF-7	breast:
12	chr12:123324556..123326269-chr12:123405620..123407753,2	MCF-7	breast:
13	chr11:18415688..18416625-chr12:123236985..123237921,2	NB4	blood:
14	chr12:123277425..123279847-chr12:123284020..123285711,2	K562	blood:
15	chr12:123314439..123317163-chr12:123634963..123637139,2	K562	blood:
16	chr12:123330610..123333935-chr12:123339820..123343037,3	MCF-7	breast:
17	chr12:123358138..123360225-chr12:123360853..123363329,2	MCF-7	breast:
18	chr12:123311180..123313487-chr12:123316149..123318304,2	K562	blood:
19	chr12:123359999..123363082-chr12:123363364..123366412,4	MCF-7	breast:
20	chr12:123303686..123306073-chr12:123311206..123312843,2	MCF-7	breast:
21	chr12:123356727..123361663-chr12:123362714..123365634,4	K562	blood:
22	chr12:123321572..123324516-chr12:123371831..123374446,2	MCF-7	breast:
23	chr12:55571372..55571892-chr12:123339417..123339937,2	MCF-7	breast:
24	chr12:123358923..123360581-chr12:123375537..123377864,2	MCF-7	breast:
25	chr12:123303995..123306395-chr12:123315559..123318480,2	MCF-7	breast:
26	chr12:123242267..123244530-chr12:123248706..123250790,2	MCF-7	breast:
27	chr12:123351397..123354786-chr12:123371825..123377880,6	MCF-7	breast:
28	chr12:123358659..123360271-chr12:123379066..123381868,2	MCF-7	breast:
29	chr12:123362099..123364653-chr12:123375458..123377701,2	K562	blood:
30	chr12:123236169..123239442-chr12:123257222..123260625,5	MCF-7	breast:
31	chr12:123345343..123346928-chr12:123463907..123466458,2	MCF-7	breast:
32	chr12:123353599..123356535-chr12:123459324..123461652,2	MCF-7	breast:
33	chr12:123321334..123323006-chr12:123430937..123432965,2	MCF-7	breast:
34	chr12:123258957..123263504-chr12:123263837..123267205,4	MCF-7	breast:
35	chr12:123331465..123333467-chr13:94634904..94637688,2	MCF-7	breast:
36	chr12:123358823..123360429-chr12:123368868..123370415,2	K562	blood:
37	chr12:123341218..123343418-chr12:123435392..123437282,2	MCF-7	breast:
38	chr12:123356737..123358240-chr12:123467000..123469929,2	MCF-7	breast:
39	chr12:123353502..123357222-chr12:123371821..123375830,5	MCF-7	breast:
40	chr12:123010150..123011921-chr12:123236546..123238778,2	MCF-7	breast:
41	chr12:123257747..123262116-chr12:123318149..123321331,4	MCF-7	breast:
42	chr12:123327852..123329476-chr12:123331474..123333275,2	K562	blood:
43	chr12:123356529..123360323-chr12:123367921..123371522,3	K562	blood:
44	chr12:123319192..123322007-chr12:123336993..123339222,2	MCF-7	breast:
45	chr12:123310638..123313614-chr12:123319077..123320937,3	MCF-7	breast:
46	chr12:122883132..122886264-chr12:123235650..123239708,3	MCF-7	breast:
47	chr12:123212708..123217136-chr12:123232023..123237517,8	MCF-7	breast:
48	chr12:123299469..123302260-chr12:123317882..123320473,2	MCF-7	breast:
49	chr11:65265725..65268508-chr12:123341267..123343973,2	MCF-7	breast:
50	chr12:123278169..123279892-chr12:123315469..123318246,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC62-2	chr12:123346651-123347033	NONHSAT031538
2	lnc-HIP1R-1	chr12:123349882-123350044	ENSG00000256152.2
3	lnc-HIP1R-1	chr12:123351248-123351568	ENSG00000256152.2
4	lnc-VPS37B-1	chr12:123348100-123348489	NONHSAT031539
5	lnc-CCDC62-2	chr12:123346263-123346544	NONHSAT031538

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	DENR	hsa-miR-15b-5p	chr12:123255439-123255461
2	VPS37B	hsa-miR-34a-5p	chr12:123350129-123350122
3	DENR	hsa-let-7b-5p	chr12:123254266-123254288
4	VPS37B	hsa-miR-34a-5p	chr12:123350123-123350144

Variant related genes	Relation type
DENR	TF binding region
HIP1R	TF binding region
ENSG00000256044	TF binding region
VPS37B	TF binding region
ENSG00000270134	TF binding region
ENSG00000256152	TF binding region
CCDC62	TF binding region
HCAR1	TF binding region
ENSG00000206914	TF binding region
DENR	CpG island
HIP1R	CpG island
ENSG00000256044	CpG island
VPS37B	CpG island
ENSG00000270134	CpG island
ENSG00000256152	CpG island
CCDC62	CpG island
HCAR1	CpG island
ENSG00000206914	CpG island
ENSG00000139722	chromatin interactions
ENSG00000182196	chromatin interactions
ENSG00000256044	chromatin interactions
ENSG00000139726	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000169251	chromatin interactions
ENSG00000184445	chromatin interactions
ENSG00000111011	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000196917	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000130787	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000130783	chromatin interactions
ENSG00000270134	chromatin interactions
ENSG00000206914	chromatin interactions
ENSG00000090975	chromatin interactions
ENSG00000130779	chromatin interactions
ENSG00000256152	chromatin interactions
ENSG00000256028	chromatin interactions
ENSG00000033030	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000134333	chromatin interactions
ENSG00000251562	chromatin interactions

Extended variants
information (count: 6233 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:6233 , 50 per page) page: 1 2 3 4 5 6 7 ... 125

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs525017	chr12:123215734-123215735	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541525602	chr12:123215838-123215839	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs560043252	chr12:123215846-123215847	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs4759383	chr12:123215850-123215851	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs72522552	chr12:123215855-123215856	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs11431610	chr12:123215856-123215857	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs33953800	chr12:123215857-123215858	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs552121933	chr12:123215875-123215876	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs374133801	chr12:123215884-123215885	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs377416677	chr12:123215939-123215940	Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs138527983	chr12:123216119-123216120	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs370449243	chr12:123216140-123216141	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs531659261	chr12:123216151-123216152	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs549762031	chr12:123216156-123216157	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568070425	chr12:123216161-123216162	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs535155935	chr12:123216168-123216169	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs547463015	chr12:123216192-123216193	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs11059636	chr12:123216204-123216205	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375228476	chr12:123216206-123216207	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs34444369	chr12:123216210-123216211	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs557960115	chr12:123216214-123216215	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs34647278	chr12:123216236-123216237	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553941604	chr12:123216243-123216244	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs555303092	chr12:123216248-123216249	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs33930522	chr12:123216263-123216264	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541113814	chr12:123216272-123216273	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs553415159	chr12:123216315-123216316	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs578054614	chr12:123216323-123216324	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs183242601	chr12:123216348-123216349	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs200127968	chr12:123216390-123216391	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs140332363	chr12:123216410-123216411	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200360975	chr12:123216414-123216415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs34387899	chr12:123216415-123216416	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs56405460	chr12:123216418-123216419	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs74907289	chr12:123216425-123216426	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs28379616	chr12:123216444-123216445	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs496911	chr12:123216469-123216470	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs186557635	chr12:123216476-123216477	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs531593393	chr12:123216498-123216499	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs543742574	chr12:123216516-123216517	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs562006889	chr12:123216541-123216542	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs146210503	chr12:123216617-123216618	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540569793	chr12:123216648-123216649	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs565748015	chr12:123216652-123216653	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs374333882	chr12:123216684-123216685	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs191339237	chr12:123216690-123216691	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs569926181	chr12:123216701-123216702	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs560120334	chr12:123216715-123216716	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs576744931	chr12:123216746-123216747	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs34511689	chr12:123216752-123216753	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5140 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123208200-123217000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:123211800-123216000	Weak transcription	Primary B cells from cord blood	blood
3	chr12:123212400-123216000	Flanking Active TSS	HMEC	breast
4	chr12:123213000-123216000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr12:123213200-123218200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:123213400-123216000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr12:123213800-123216600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:123214000-123215800	Flanking Active TSS	Placenta	Placenta
9	chr12:123214000-123215800	Bivalent/Poised TSS	Fetal Stomach	stomach
10	chr12:123214400-123215800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr12:123214600-123215800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:123214600-123215800	Active TSS	Fetal Kidney	kidney
13	chr12:123214600-123215800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
14	chr12:123214600-123215800	Enhancers	GM12878-XiMat	blood
15	chr12:123214800-123215800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:123214800-123215800	Active TSS	Colonic Mucosa	Colon
17	chr12:123214800-123215800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr12:123214800-123216600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:123214800-123218600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:123215000-123215800	Active TSS	Aorta	Aorta
21	chr12:123215000-123215800	Active TSS	Duodenum Mucosa	Duodenum
22	chr12:123215000-123215800	Active TSS	Right Atrium	heart
23	chr12:123215000-123215800	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr12:123215000-123216800	Enhancers	Primary T cells from cord blood	blood
25	chr12:123215200-123215800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:123215200-123215800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:123215200-123215800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:123215200-123215800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:123215200-123215800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:123215200-123216000	Flanking Active TSS	A549	lung
31	chr12:123215200-123216600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:123215200-123216600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:123215200-123216800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:123215400-123215800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:123215400-123215800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr12:123215400-123217000	Weak transcription	Thymus	Thymus
37	chr12:123215400-123218800	Enhancers	Fetal Thymus	thymus
38	chr12:123215600-123215800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:123215600-123215800	Enhancers	Primary hematopoietic stem cells	blood
40	chr12:123215600-123215800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:123215600-123215800	Flanking Active TSS	Ovary	ovary
42	chr12:123215600-123215800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr12:123215600-123216000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:123215600-123216000	Flanking Active TSS	HepG2	liver
45	chr12:123215600-123216000	Flanking Active TSS	Osteobl	bone
46	chr12:123215600-123216600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:123215600-123216600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:123215600-123216600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:123215600-123218200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr12:123215600-123218600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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