Variant report

Variant	nsv1002611
Chromosome Location	chr2:54718022-54752839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:933)
CpG islands
(count:245)
Chromatin interactive
region (count:30)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:933 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:54749885-54750209	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:54725256-54725814	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:54730476-54730668	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:54724023-54724223	K562	blood:	n/a	n/a
5	ARID3A	chr2:54749988-54750074	K562	blood:	n/a	n/a
6	ATF2	chr2:54751708-54752194	GM12878	blood:	n/a	n/a
7	ATF2	chr2:54749783-54750154	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr2:54751729-54752304	GM12878	blood:	n/a	n/a
9	BATF	chr2:54751817-54752113	GM12878	blood:	n/a	chr2:54751986-54751997
10	BATF	chr2:54751806-54752125	GM12878	blood:	n/a	chr2:54751986-54751997
11	BCL11A	chr2:54751839-54752175	GM12878	blood:	n/a	n/a
12	BCL11A	chr2:54751845-54752086	GM12878	blood:	n/a	n/a
13	BCLAF1	chr2:54751750-54752202	GM12878	blood:	n/a	n/a
14	BCLAF1	chr2:54749808-54750237	GM12878	blood:	n/a	n/a
15	BCLAF1	chr2:54751797-54752138	GM12878	blood:	n/a	n/a
16	BHLHE40	chr2:54749866-54750245	GM12878	blood:	n/a	n/a
17	BHLHE40	chr2:54751814-54752202	GM12878	blood:	n/a	n/a
18	BHLHE40	chr2:54720972-54721188	K562	blood:	n/a	chr2:54721058-54721067 chr2:54721053-54721074 chr2:54721059-54721068 chr2:54721059-54721068 chr2:54721060-54721069 chr2:54721057-54721070
19	BHLHE40	chr2:54749886-54750154	K562	blood:	n/a	n/a
20	BHLHE40	chr2:54751866-54752066	K562	blood:	n/a	n/a
21	BRCA1	chr2:54749906-54750136	H1-hESC	embryonic stem cell:	n/a	n/a
22	CCNT2	chr2:54730590-54730790	K562	blood:	n/a	n/a
23	CEBPB	chr2:54727616-54727827	IMR90	lung:	n/a	chr2:54727738-54727749
24	CEBPB	chr2:54739581-54740127	HepG2	liver:	n/a	chr2:54739717-54739728 chr2:54739716-54739727
25	CEBPB	chr2:54727614-54727812	HepG2	liver:	n/a	chr2:54727738-54727749
26	CEBPB	chr2:54727623-54727809	H1-hESC	embryonic stem cell:	n/a	chr2:54727738-54727749
27	CEBPB	chr2:54751411-54751697	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr2:54749855-54750192	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr2:54749878-54750140	K562	blood:	n/a	n/a
30	CEBPB	chr2:54747869-54748288	IMR90	lung:	n/a	n/a
31	CEBPB	chr2:54749878-54750070	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:54749948-54750044	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:54732020-54732279	A549	lung:	n/a	chr2:54732074-54732087
34	CEBPB	chr2:54739706-54739723	A549	lung:	n/a	n/a
35	CEBPB	chr2:54727660-54727796	Hela-S3	cervix:	n/a	chr2:54727738-54727749
36	CEBPB	chr2:54731978-54732347	IMR90	lung:	n/a	chr2:54732074-54732087
37	CEBPB	chr2:54739643-54739756	K562	blood:	n/a	chr2:54739717-54739728 chr2:54739716-54739727
38	CEBPB	chr2:54742123-54742233	A549	lung:	n/a	n/a
39	CEBPB	chr2:54727625-54727801	A549	lung:	n/a	chr2:54727738-54727749
40	CEBPB	chr2:54727651-54727792	K562	blood:	n/a	chr2:54727738-54727749
41	CEBPB	chr2:54749869-54750114	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr2:54749871-54750117	GM12878	blood:	n/a	n/a
43	CHD2	chr2:54730405-54730406	HepG2	liver:	n/a	n/a
44	CHD2	chr2:54749812-54750151	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr2:54750455-54750957	GM12878	blood:	n/a	n/a
46	CHD2	chr2:54749855-54750140	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr2:54749898-54750096	HepG2	liver:	n/a	n/a
48	CTCF	chr2:54725240-54725390	GM12865	blood:	n/a	chr2:54725351-54725364
49	CTCF	chr2:54725320-54725470	NHDF-neo	bronchial:	n/a	chr2:54725351-54725364
50	CTCF	chr2:54737920-54738070	AG04450	lung:	n/a	chr2:54737950-54737968

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54727293-54727343	AoSMC	blood vessel:	n/a
2	chr2:54727293-54727343	AoSMC	blood vessel:	n/a
3	chr2:54751507-54751557	GM06990	blood:	n/a
4	chr2:54751507-54751557	Jurkat	blood:	n/a
5	chr2:54725613-54725663	HL-60	blood:	n/a
6	chr2:54727293-54727343	HPAEpiC	pulmonary alveolar:	n/a
7	chr2:54732851-54732901	Hela-S3	cervix:	n/a
8	chr2:54727293-54727343	AG10803	skin:	n/a
9	chr2:54751507-54751557	SK-N-SH	brain:	n/a
10	chr2:54727293-54727343	AG04450	lung:	fetal
11	chr2:54725613-54725663	MCF-7	breast:	n/a
12	chr2:54727293-54727343	PANC-1	pancreas:	n/a
13	chr2:54751507-54751557	AG09309	skin:	n/a
14	chr2:54725613-54725663	RPTEC	kidney:	n/a
15	chr2:54725613-54725663	PrEC	prostate:	n/a
16	chr2:54732851-54732901	ProgFib	skin:	n/a
17	chr2:54751507-54751557	SK-N-SH_RA	brain:	n/a
18	chr2:54727293-54727343	NT2-D1	testis:	n/a
19	chr2:54751507-54751557	K562	blood:	n/a
20	chr2:54727293-54727343	NHDF-neo	bronchial:	n/a
21	chr2:54751507-54751557	Hela-S3	cervix:	n/a
22	chr2:54725613-54725663	GM12892	blood:	n/a
23	chr2:54727293-54727343	HEEpiC	esophagus:	n/a
24	chr2:54725613-54725663	GM06990	blood:	n/a
25	chr2:54725613-54725663	HCPEpiC	choroid plexus:	n/a
26	chr2:54727293-54727343	CMK	blood:	n/a
27	chr2:54732851-54732901	HMEC	breast:	n/a
28	chr2:54751507-54751557	Caco-2	colon:	n/a
29	chr2:54725613-54725663	AoSMC	blood vessel:	n/a
30	chr2:54732851-54732901	NH-A	brain:	n/a
31	chr2:54725613-54725663	NT2-D1	testis:	n/a
32	chr2:54727293-54727343	MCF10A-Er-Src	breast:	n/a
33	chr2:54732851-54732901	AG09319	gingival:	n/a
34	chr2:54732851-54732901	ECC-1	luminal epithelium:	n/a
35	chr2:54751507-54751557	HL-60	blood:	n/a
36	chr2:54751507-54751557	NT2-D1	testis:	n/a
37	chr2:54727293-54727343	ovcar-3	ovarian:	n/a
38	chr2:54732851-54732901	LNCaP	prostate:	n/a
39	chr2:54732851-54732901	SK-N-SH_RA	brain:	n/a
40	chr2:54751507-54751557	HIPEpiC	eye:	n/a
41	chr2:54725613-54725663	A549	lung:	n/a
42	chr2:54751507-54751557	PANC-1	pancreas:	n/a
43	chr2:54751507-54751557	AG04449	skin:	fetal
44	chr2:54751507-54751557	GM12892	blood:	n/a
45	chr2:54727293-54727343	NB4	blood:	n/a
46	chr2:54727293-54727343	GM12892	blood:	n/a
47	chr2:54732851-54732901	AG10803	skin:	n/a
48	chr2:54727293-54727343	Jurkat	blood:	n/a
49	chr2:54727293-54727343	SK-N-MC	brain:	n/a
50	chr2:54727293-54727343	H1-hESC	embryonic stem cell:	embryo

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54716343..54718706-chr2:54724549..54726688,2	MCF-7	breast:
2	chr2:54727594..54730058-chr2:54731900..54733434,2	K562	blood:
3	chr2:54749549..54750174-chr2:54888310..54888932,2	K562	blood:
4	chr2:54749566..54750373-chr2:54884453..54885101,2	MCF-7	breast:
5	chr2:54716343..54718706-chr2:54724549..54726688,2	MCF-7	breast:
6	chr2:54433377..54433952-chr2:54730236..54730920,2	MCF-7	breast:
7	chr2:54433434..54434357-chr2:54725307..54725819,2	MCF-7	breast:
8	chr2:54749917..54750457-chr2:54884823..54885396,3	MCF-7	breast:
9	chr2:54340022..54344058-chr2:54726690..54729314,3	MCF-7	breast:
10	chr2:54748253..54750106-chr2:54930790..54932794,2	MCF-7	breast:
11	chr2:54749602..54750431-chr2:55065446..55066330,2	K562	blood:
12	chr2:54749911..54750650-chr2:54931167..54932344,3	MCF-7	breast:
13	chr2:54334195..54335002-chr2:54730347..54730951,3	MCF-7	breast:
14	chr2:54749588..54750503-chr2:54931523..54932509,5	K562	blood:
15	chr2:54747821..54752887-chr2:54784386..54788690,5	MCF-7	breast:
16	chr2:54743659..54744325-chr2:54801308..54802130,2	MCF-7	breast:
17	chr2:54749132..54757147-chr2:54784492..54789269,9	MCF-7	breast:
18	chr2:54751127..54751822-chr2:54884889..54885446,2	K562	blood:
19	chr2:54719586..54722384-chr2:54724826..54727546,2	K562	blood:
20	chr2:54735530..54737587-chr2:54805600..54807327,2	MCF-7	breast:
21	chr2:54727594..54730058-chr2:54731900..54733434,2	K562	blood:
22	chr2:54715431..54717877-chr2:54722811..54726356,3	K562	blood:
23	chr2:54719586..54722384-chr2:54724826..54727546,2	K562	blood:
24	chr2:54749977..54750495-chr2:54931192..54932037,2	MCF-7	breast:
25	chr2:54752145..54754517-chr2:54758567..54761057,2	MCF-7	breast:
26	chr2:54739309..54741349-chr2:54741528..54743600,2	MCF-7	breast:
27	chr2:54749018..54751873-chr2:54799647..54801248,2	MCF-7	breast:
28	chr2:54749551..54750475-chr2:54884374..54885088,3	K562	blood:
29	chr2:54403773..54404429-chr2:54730122..54730843,3	MCF-7	breast:
30	chr2:54749225..54752072-chr2:54796311..54798001,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C2orf73-2	chr2:54743773-54744815	expReg_chr2_4103_+
2	lnc-TSPYL6-2	chr2:54743185-54743386	ENSG00000228108.1
3	lnc-TSPYL6-2	chr2:54747467-54747602	ENSG00000228108.1

No data

Variant related genes	Relation type
SPTBN1	TF binding region
RPL23AP32	TF binding region
SPTBN1	CpG island
RPL23AP32	CpG island
ENSG00000170634	chromatin interactions
ENSG00000115306	chromatin interactions

Extended variants
information (count: 1380 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1380 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12713259	chr2:54718022-54718023	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565718965	chr2:54718083-54718084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546486928	chr2:54718118-54718119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371841144	chr2:54718128-54718129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148539813	chr2:54718146-54718147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570143588	chr2:54718168-54718169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542447167	chr2:54718171-54718172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4557020	chr2:54718181-54718182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
9	rs531080869	chr2:54718182-54718183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370052196	chr2:54718210-54718211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184512824	chr2:54718231-54718232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570474084	chr2:54718277-54718278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142780522	chr2:54718292-54718293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554413201	chr2:54718303-54718304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549569441	chr2:54718308-54718309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373848351	chr2:54718332-54718333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376893207	chr2:54718344-54718345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115171321	chr2:54718348-54718349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534502086	chr2:54718353-54718354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554787301	chr2:54718436-54718437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72915019	chr2:54718442-54718443	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537100846	chr2:54718470-54718471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76964383	chr2:54718475-54718476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189743314	chr2:54718489-54718490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536606913	chr2:54718532-54718533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556542120	chr2:54718549-54718550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs80072870	chr2:54718585-54718586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553688681	chr2:54718591-54718592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114202081	chr2:54718603-54718604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566093107	chr2:54718609-54718610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542057154	chr2:54718612-54718613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562264993	chr2:54718616-54718617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531022665	chr2:54718654-54718655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376676762	chr2:54718788-54718789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146225503	chr2:54718789-54718790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4671943	chr2:54718805-54718806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs537612500	chr2:54718840-54718841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533132049	chr2:54718870-54718871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553067417	chr2:54718927-54718928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4233951	chr2:54718937-54718938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573337110	chr2:54718947-54718948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375976153	chr2:54718980-54718981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150622199	chr2:54719005-54719006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558890703	chr2:54719017-54719018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528431933	chr2:54719041-54719042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181116837	chr2:54719107-54719108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139982482	chr2:54719110-54719111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7600596	chr2:54719121-54719122	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs557073071	chr2:54719163-54719164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570595562	chr2:54719209-54719210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	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
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1329 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54707800-54720800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:54710600-54725000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:54710800-54729600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:54711200-54718800	Weak transcription	Aorta	Aorta
5	chr2:54711600-54724400	Weak transcription	HSMMtube	muscle
6	chr2:54711600-54726000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:54711800-54721000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:54711800-54726200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:54712000-54721000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:54712400-54719600	Weak transcription	Lung	lung
11	chr2:54712400-54727800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:54712400-54729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:54712400-54737000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:54712600-54727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:54714600-54724200	Weak transcription	A549	lung
16	chr2:54714800-54719400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:54714800-54720000	Enhancers	Fetal Heart	heart
18	chr2:54715400-54718400	Enhancers	Left Ventricle	heart
19	chr2:54715600-54728200	Weak transcription	Brain Germinal Matrix	brain
20	chr2:54715800-54718200	Weak transcription	HSMM	muscle
21	chr2:54715800-54719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:54715800-54719600	Weak transcription	Fetal Stomach	stomach
23	chr2:54715800-54720800	Weak transcription	NHDF-Ad	bronchial
24	chr2:54715800-54720800	Weak transcription	NHLF	lung
25	chr2:54715800-54722200	Weak transcription	Spleen	Spleen
26	chr2:54715800-54724600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:54716000-54721000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:54716000-54721000	Weak transcription	Osteobl	bone
29	chr2:54716000-54730000	Weak transcription	NH-A	brain
30	chr2:54716200-54721000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:54716200-54728600	Weak transcription	Fetal Brain Female	brain
32	chr2:54716400-54718400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:54716400-54724200	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:54716400-54724600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:54716600-54718800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:54716800-54718200	Enhancers	Brain Cingulate Gyrus	brain
37	chr2:54716800-54718400	Enhancers	Brain Angular Gyrus	brain
38	chr2:54716800-54720000	Enhancers	HepG2	liver
39	chr2:54717000-54719600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:54717000-54729800	Weak transcription	Fetal Brain Male	brain
41	chr2:54717200-54719000	Enhancers	Right Ventricle	heart
42	chr2:54717200-54719800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:54717400-54720800	Enhancers	Right Atrium	heart
44	chr2:54717600-54718200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:54717600-54718200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:54717600-54718200	Enhancers	Brain Hippocampus Middle	brain
47	chr2:54717600-54718200	Enhancers	Brain Substantia Nigra	brain
48	chr2:54717600-54718400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:54717600-54718400	Enhancers	Adipose Nuclei	Adipose
50	chr2:54717600-54718400	Enhancers	Colon Smooth Muscle	Colon

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