Variant report

Variant	esv3502709
Chromosome Location	chr2:55481350-55506212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:792)
CpG islands
(count:796)
Chromatin interactive
region (count:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:792 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:55496079-55496648	HepG2	liver:	n/a	n/a
2	ATF2	chr2:55496074-55496639	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr2:55496054-55496589	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr2:55496025-55496883	GM12878	blood:	n/a	n/a
5	ATF2	chr2:55496023-55496744	GM12878	blood:	n/a	n/a
6	ATF3	chr2:55495727-55496643	A549	lung:	n/a	n/a
7	ATF3	chr2:55495945-55496752	A549	lung:	n/a	n/a
8	BACH1	chr2:55495852-55496650	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr2:55496203-55496583	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:55496170-55496563	GM12878	blood:	n/a	n/a
11	BCL3	chr2:55495902-55496848	A549	lung:	n/a	chr2:55496096-55496109
12	BCL3	chr2:55496202-55496581	GM12878	blood:	n/a	n/a
13	BCL3	chr2:55495510-55496662	A549	lung:	n/a	chr2:55496096-55496109
14	BCLAF1	chr2:55496004-55496844	K562	blood:	n/a	chr2:55496096-55496109
15	BCLAF1	chr2:55495968-55496709	GM12878	blood:	n/a	chr2:55496096-55496109
16	BCLAF1	chr2:55495891-55496691	GM12878	blood:	n/a	chr2:55496096-55496109
17	BCLAF1	chr2:55495967-55496768	K562	blood:	n/a	chr2:55496096-55496109
18	BHLHE40	chr2:55495813-55496657	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:55504624-55504632	HepG2	liver:	n/a	n/a
20	BHLHE40	chr2:55497679-55497736	K562	blood:	n/a	n/a
21	BHLHE40	chr2:55495872-55496583	HepG2	liver:	n/a	n/a
22	BHLHE40	chr2:55495943-55496589	K562	blood:	n/a	n/a
23	BRCA1	chr2:55496192-55496461	GM12878	blood:	n/a	n/a
24	BRCA1	chr2:55496097-55496551	HepG2	liver:	n/a	n/a
25	BRCA1	chr2:55495943-55496523	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr2:55496247-55496707	Hela-S3	cervix:	n/a	n/a
27	CBX3	chr2:55495905-55496706	K562	blood:	n/a	n/a
28	CBX3	chr2:55495967-55496718	HCT-116	colon:	n/a	n/a
29	CBX3	chr2:55496034-55496683	K562	blood:	n/a	n/a
30	CCNT2	chr2:55495973-55496645	K562	blood:	n/a	n/a
31	CEBPB	chr2:55503590-55503781	H1-hESC	embryonic stem cell:	n/a	chr2:55503600-55503611
32	CEBPB	chr2:55496231-55496650	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr2:55503495-55503645	A549	lung:	n/a	chr2:55503600-55503611
34	CEBPB	chr2:55503433-55503703	HepG2	liver:	n/a	chr2:55503600-55503611
35	CEBPB	chr2:55496058-55496621	A549	lung:	n/a	n/a
36	CEBPB	chr2:55503532-55503805	MCF-7	breast:	n/a	chr2:55503600-55503611
37	CEBPB	chr2:55495634-55496725	GM12878	blood:	n/a	n/a
38	CEBPB	chr2:55483859-55483973	HepG2	liver:	n/a	n/a
39	CEBPB	chr2:55503557-55503777	K562	blood:	n/a	chr2:55503600-55503611
40	CEBPB	chr2:55503581-55503618	IMR90	lung:	n/a	chr2:55503600-55503611
41	CEBPD	chr2:55496043-55496601	HepG2	liver:	n/a	n/a
42	CEBPD	chr2:55495993-55496576	HepG2	liver:	n/a	n/a
43	CEBPD	chr2:55496029-55496674	K562	blood:	n/a	n/a
44	CHD1	chr2:55496216-55496799	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD1	chr2:55495812-55496751	GM12878	blood:	n/a	chr2:55496076-55496086
46	CHD2	chr2:55496231-55496580	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr2:55496230-55496664	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr2:55496113-55496574	HepG2	liver:	n/a	n/a
49	CHD2	chr2:55496105-55496649	GM12878	blood:	n/a	n/a
50	CREB1	chr2:55496320-55496617	ECC-1	luminal epithelium:	n/a	n/a

(count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:55496490-55496540	Caco-2	colon:	n/a
2	chr2:55496552-55496602	GM12891	blood:	n/a
3	chr2:55493212-55493262	BE2_C	brain:	n/a
4	chr2:55496490-55496540	Caco-2	colon:	n/a
5	chr2:55496552-55496602	GM12891	blood:	n/a
6	chr2:55493212-55493262	BE2_C	brain:	n/a
7	chr2:55496371-55496421	HPAEpiC	pulmonary alveolar:	n/a
8	chr2:55497012-55497062	H1-hESC	embryonic stem cell:	embryo
9	chr2:55496490-55496540	HEK293	kidney:	embryo
10	chr2:55496232-55496282	SK-N-SH_RA	brain:	n/a
11	chr2:55496004-55496054	SK-N-SH	brain:	n/a
12	chr2:55496552-55496602	GM06990	blood:	n/a
13	chr2:55496490-55496540	Jurkat	blood:	n/a
14	chr2:55496384-55496434	Hepatocyte	liver:	n/a
15	chr2:55497012-55497062	HEEpiC	esophagus:	n/a
16	chr2:55496490-55496540	HCT-116	colon:	n/a
17	chr2:55496390-55496440	SK-N-SH	brain:	n/a
18	chr2:55493212-55493262	GM12891	blood:	n/a
19	chr2:55496384-55496434	HRE	kidney:	n/a
20	chr2:55496552-55496602	NH-A	brain:	n/a
21	chr2:55493212-55493262	PrEC	prostate:	n/a
22	chr2:55496232-55496282	A549	lung:	n/a
23	chr2:55500061-55500111	GM12878	blood:	n/a
24	chr2:55496144-55496194	NHDF-neo	bronchial:	n/a
25	chr2:55496462-55496512	PANC-1	pancreas:	n/a
26	chr2:55493212-55493262	NB4	blood:	n/a
27	chr2:55496232-55496282	HEK293	kidney:	embryo
28	chr2:55496462-55496512	Hepatocyte	liver:	n/a
29	chr2:55496495-55496545	HEK293	kidney:	embryo
30	chr2:55500061-55500111	SAEC	small airway:	n/a
31	chr2:55496384-55496434	H1-hESC	embryonic stem cell:	embryo
32	chr2:55496371-55496421	AG10803	skin:	n/a
33	chr2:55496390-55496440	HNPCEpiC	eye:	n/a
34	chr2:55496004-55496054	PFSK-1	brain:	n/a
35	chr2:55496495-55496545	AG09319	gingival:	n/a
36	chr2:55496371-55496421	SK-N-SH_RA	brain:	n/a
37	chr2:55497012-55497062	SK-N-SH	brain:	n/a
38	chr2:55496384-55496434	AG09319	gingival:	n/a
39	chr2:55496495-55496545	SKMC	muscle:	n/a
40	chr2:55496371-55496421	T-47D	breast:	n/a
41	chr2:55496004-55496054	SKMC	muscle:	n/a
42	chr2:55496384-55496434	GM12878	blood:	n/a
43	chr2:55496495-55496545	HPAEpiC	pulmonary alveolar:	n/a
44	chr2:55500061-55500111	HCM	heart:	n/a
45	chr2:55496004-55496054	HNPCEpiC	eye:	n/a
46	chr2:55496384-55496434	SAEC	small airway:	n/a
47	chr2:55496462-55496512	BE2_C	brain:	n/a
48	chr2:55496552-55496602	H1-hESC	embryonic stem cell:	embryo
49	chr2:55496004-55496054	SK-N-MC	brain:	n/a
50	chr2:55496232-55496282	HEEpiC	esophagus:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55475194..55477770-chr2:55494963..55497132,2	MCF-7	breast:
2	chr2:55480502..55483270-chr2:55485037..55488051,3	K562	blood:
3	chr2:55496021..55497900-chr2:55843389..55845266,2	K562	blood:
4	chr2:55458825..55461494-chr2:55489314..55491027,2	MCF-7	breast:
5	chr2:55466265..55468556-chr2:55485634..55487612,2	MCF-7	breast:
6	chr2:55493189..55494879-chr2:55494974..55496543,2	MCF-7	breast:
7	chr2:55494928..55498059-chr2:55506695..55512310,8	K562	blood:
8	chr2:55496311..55498089-chr2:55508225..55509799,2	MCF-7	breast:
9	chr2:55477304..55482522-chr2:55492330..55496996,5	MCF-7	breast:
10	chr2:55499045..55500751-chr2:55505359..55507052,2	MCF-7	breast:
11	chr2:55480148..55483393-chr2:55492366..55494655,3	K562	blood:
12	chr2:55501428..55503229-chr2:55507740..55510366,2	MCF-7	breast:
13	chr2:55462896..55465238-chr2:55491054..55493846,2	MCF-7	breast:
14	chr2:55493189..55494879-chr2:55494974..55496543,2	MCF-7	breast:
15	chr2:55481770..55484795-chr2:55484832..55488632,4	K562	blood:
16	chr2:55490801..55492846-chr2:55494879..55496493,2	K562	blood:
17	chr2:55458256..55462359-chr2:55494864..55497801,3	K562	blood:
18	chr2:55491409..55498987-chr2:55507178..55511380,11	MCF-7	breast:
19	chr2:55499045..55500751-chr2:55505359..55507052,2	MCF-7	breast:
20	chr2:55458420..55460562-chr2:55481965..55484831,2	K562	blood:
21	chr2:55481770..55484795-chr2:55484832..55488632,4	K562	blood:
22	chr2:55457538..55465596-chr2:55493335..55497971,13	MCF-7	breast:
23	chr2:55485423..55489469-chr2:55495685..55498488,3	MCF-7	breast:
24	chr2:55458156..55461118-chr2:55494163..55499368,6	MCF-7	breast:
25	chr2:55274992..55276773-chr2:55494676..55496447,2	K562	blood:
26	chr2:55480148..55483393-chr2:55492366..55494655,3	K562	blood:
27	chr2:55437973..55440553-chr2:55504006..55505515,2	K562	blood:
28	chr2:55483346..55485243-chr2:55507754..55509735,2	MCF-7	breast:
29	chr2:55481797..55485521-chr2:55489463..55492846,3	K562	blood:
30	chr2:55497553..55499335-chr2:55513107..55515419,2	K562	blood:
31	chr2:55496021..55498315-chr2:55843389..55845953,2	K562	blood:
32	chr2:55458633..55461619-chr2:55478405..55481835,3	K562	blood:
33	chr2:55458256..55461079-chr2:55494634..55496499,3	K562	blood:
34	chr2:55494963..55498122-chr2:55498179..55500707,3	K562	blood:
35	chr2:55274992..55277411-chr2:55494676..55497816,3	K562	blood:
36	chr2:55489175..55493124-chr2:55494672..55498680,8	MCF-7	breast:
37	chr2:55501447..55504547-chr2:55508034..55511018,3	MCF-7	breast:
38	chr12:120728776..120730953-chr2:55493561..55496361,2	MCF-7	breast:
39	chr2:55480502..55483270-chr2:55485037..55488051,3	K562	blood:
40	chr2:55481797..55485521-chr2:55489463..55492846,3	K562	blood:
41	chr2:55468640..55470171-chr2:55482025..55483624,2	MCF-7	breast:
42	chr2:55494631..55497013-chr2:55842868..55845390,2	MCF-7	breast:
43	chr2:55495879..55496701-chr7:143598878..143599680,2	HCT-116	colon:
44	chr2:55476447..55478832-chr2:55481889..55483888,2	K562	blood:
45	chr2:55495690..55497899-chr2:55501241..55503217,2	MCF-7	breast:
46	chr2:55496544..55498355-chr2:55643954..55646229,2	K562	blood:

No data

Variant related genes	Relation type
PRORSD1P	TF binding region
MTIF2	TF binding region
PRORSD1P	CpG island
MTIF2	CpG island
ENSG00000198420	chromatin interactions
ENSG00000272606	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000085760	chromatin interactions
ENSG00000162994	chromatin interactions
ENSG00000206964	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000162997	chromatin interactions
ENSG00000138041	chromatin interactions
ENSG00000143947	chromatin interactions

Extended variants
information (count: 1154 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1154 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369651405	chr2:55481358-55481359	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs372684352	chr2:55481371-55481372	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs370806178	chr2:55481382-55481383	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs567262235	chr2:55481429-55481430	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs529612497	chr2:55481430-55481431	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs549744405	chr2:55481473-55481474	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs113329029	chr2:55481484-55481485	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs10678751	chr2:55481486-55481487	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs35634895	chr2:55481488-55481489	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs112164898	chr2:55481489-55481490	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs112999766	chr2:55481490-55481491	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs569688023	chr2:55481498-55481499	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs538719658	chr2:55481502-55481503	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs192076259	chr2:55481528-55481529	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs373956964	chr2:55481553-55481554	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs185064568	chr2:55481569-55481570	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs534927982	chr2:55481587-55481588	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs189914530	chr2:55481634-55481635	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs111774052	chr2:55481644-55481645	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs533945205	chr2:55481649-55481650	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs574676074	chr2:55481658-55481659	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs372150486	chr2:55481666-55481667	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs112065242	chr2:55481684-55481685	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs556506845	chr2:55481695-55481696	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs372656974	chr2:55481739-55481740	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs376907248	chr2:55481744-55481745	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs199645491	chr2:55481766-55481767	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs371603844	chr2:55481793-55481794	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs201632577	chr2:55481794-55481795	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs200624898	chr2:55481801-55481802	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs527838028	chr2:55481817-55481818	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs541329129	chr2:55481861-55481862	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs561472882	chr2:55481865-55481866	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs374641337	chr2:55481869-55481870	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368244847	chr2:55481872-55481873	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140735121	chr2:55481877-55481878	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549543215	chr2:55481900-55481901	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149948402	chr2:55481903-55481904	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs368610419	chr2:55481916-55481917	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375927796	chr2:55481932-55481933	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs143272101	chr2:55481953-55481954	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369636331	chr2:55481957-55481958	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374937894	chr2:55481966-55481967	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs372607576	chr2:55481967-55481968	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs369310026	chr2:55481969-55481970	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs552262884	chr2:55481988-55481989	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs201620997	chr2:55481989-55481990	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs181134208	chr2:55481995-55481996	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs567701431	chr2:55482006-55482007	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs199658087	chr2:55482018-55482019	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:947 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55461600-55481600	Strong transcription	Fetal Thymus	thymus
2	chr2:55461600-55495400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:55461600-55495400	Weak transcription	Stomach Mucosa	stomach
4	chr2:55461800-55493400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:55461800-55495000	Weak transcription	Fetal Brain Male	brain
6	chr2:55462000-55493200	Strong transcription	Duodenum Mucosa	Duodenum
7	chr2:55462200-55490200	Weak transcription	Small Intestine	intestine
8	chr2:55462600-55485800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:55463000-55495400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:55463400-55488200	Weak transcription	Pancreas	Pancrea
11	chr2:55463600-55483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:55463800-55486200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:55463800-55490400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:55463800-55494800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:55463800-55495600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:55464600-55495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:55465400-55490600	Weak transcription	Brain Germinal Matrix	brain
18	chr2:55465600-55486000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:55465600-55494400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:55466000-55493200	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr2:55468200-55493400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr2:55468400-55493200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:55468400-55494400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:55468600-55494400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:55468800-55493600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:55468800-55494400	Strong transcription	Adipose Nuclei	Adipose
27	chr2:55468800-55494400	Strong transcription	Liver	Liver
28	chr2:55469000-55482000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:55469400-55492600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr2:55469600-55481400	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:55469600-55481800	Strong transcription	Placenta	Placenta
32	chr2:55470000-55481800	Strong transcription	A549	lung
33	chr2:55470800-55494200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:55472000-55485000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:55472000-55495200	Weak transcription	Psoas Muscle	Psoas
36	chr2:55473000-55482400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:55473600-55481400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr2:55473600-55484600	Weak transcription	Hela-S3	cervix
39	chr2:55473600-55490200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:55475000-55485200	Weak transcription	HSMMtube	muscle
41	chr2:55475200-55481600	Strong transcription	NHEK	skin
42	chr2:55475200-55484800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:55475400-55482800	Weak transcription	Colonic Mucosa	Colon
44	chr2:55475400-55490000	Weak transcription	Gastric	stomach
45	chr2:55476000-55495400	Weak transcription	HUVEC	blood vessel
46	chr2:55476600-55490000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:55476600-55495400	Weak transcription	Aorta	Aorta
48	chr2:55476600-55495400	Weak transcription	Fetal Heart	heart
49	chr2:55476600-55495600	Weak transcription	Esophagus	oesophagus
50	chr2:55476800-55484800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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