Variant report

Variant	nsv536136
Chromosome Location	chr2:211497528-211830019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:211537752-211538123	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:211551150-211551337	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:211828150-211828564	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:211683069-211683350	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:211527285-211527735	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:211763832-211764099	HepG2	liver:	n/a	n/a
7	BACH1	chr2:211711877-211711882	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr2:211554831-211554832	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr2:211586881-211587076	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:211777520-211777739	GM12878	blood:	n/a	n/a
11	BCL3	chr2:211667959-211668363	GM12878	blood:	n/a	n/a
12	BCL3	chr2:211668046-211668296	GM12878	blood:	n/a	n/a
13	BRCA1	chr2:211619752-211619828	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr2:211583593-211583625	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr2:211763857-211764342	HCT-116	colon:	n/a	n/a
16	CCNT2	chr2:211499992-211500187	K562	blood:	n/a	n/a
17	CEBPB	chr2:211528282-211528672	MCF-7	breast:	n/a	chr2:211528488-211528499 chr2:211528487-211528500 chr2:211528487-211528498
18	CEBPB	chr2:211500107-211500326	K562	blood:	n/a	chr2:211500176-211500187
19	CEBPB	chr2:211528346-211528628	A549	lung:	n/a	chr2:211528488-211528499 chr2:211528487-211528500 chr2:211528487-211528498
20	CEBPB	chr2:211528229-211528700	MCF-7	breast:	n/a	chr2:211528488-211528499 chr2:211528487-211528500 chr2:211528487-211528498
21	CEBPB	chr2:211826850-211827197	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:211716179-211716281	K562	blood:	n/a	chr2:211716228-211716241 chr2:211716228-211716239 chr2:211716228-211716241 chr2:211716229-211716240 chr2:211716228-211716241
23	CEBPB	chr2:211581704-211582010	IMR90	lung:	n/a	chr2:211581849-211581860 chr2:211581847-211581858 chr2:211581847-211581860
24	CEBPB	chr2:211820406-211820702	IMR90	lung:	n/a	chr2:211820451-211820463
25	CEBPB	chr2:211612560-211612867	HepG2	liver:	n/a	chr2:211612721-211612732 chr2:211612720-211612733 chr2:211612679-211612690
26	CEBPB	chr2:211828235-211828429	HepG2	liver:	n/a	n/a
27	CEBPB	chr2:211663002-211663292	HepG2	liver:	n/a	n/a
28	CEBPB	chr2:211716120-211716293	Hela-S3	cervix:	n/a	chr2:211716228-211716241 chr2:211716228-211716239 chr2:211716228-211716241 chr2:211716229-211716240 chr2:211716228-211716241
29	CEBPB	chr2:211612614-211612796	A549	lung:	n/a	chr2:211612721-211612732 chr2:211612720-211612733 chr2:211612679-211612690
30	CEBPB	chr2:211588286-211588498	IMR90	lung:	n/a	chr2:211588368-211588377 chr2:211588368-211588377 chr2:211588366-211588377 chr2:211588368-211588377 chr2:211588368-211588377
31	CEBPB	chr2:211652744-211653060	HepG2	liver:	n/a	chr2:211652876-211652887
32	CEBPB	chr2:211500034-211500316	A549	lung:	n/a	chr2:211500176-211500187
33	CEBPB	chr2:211581774-211581974	A549	lung:	n/a	chr2:211581849-211581860 chr2:211581847-211581858 chr2:211581847-211581860
34	CEBPB	chr2:211528361-211528602	K562	blood:	n/a	chr2:211528488-211528499 chr2:211528487-211528500 chr2:211528487-211528498
35	CEBPB	chr2:211499909-211500501	HCT-116	colon:	n/a	chr2:211500176-211500187
36	CEBPB	chr2:211528378-211528525	HepG2	liver:	n/a	chr2:211528488-211528499 chr2:211528487-211528500 chr2:211528487-211528498
37	CEBPB	chr2:211500017-211500305	K562	blood:	n/a	chr2:211500176-211500187
38	CEBPB	chr2:211654929-211655153	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr2:211528336-211528631	HepG2	liver:	n/a	chr2:211528488-211528499 chr2:211528487-211528500 chr2:211528487-211528498
40	CEBPB	chr2:211822811-211823058	A549	lung:	n/a	chr2:211822922-211822933 chr2:211822922-211822935 chr2:211822924-211822935
41	CEBPB	chr2:211826932-211827209	A549	lung:	n/a	n/a
42	CEBPB	chr2:211536528-211536844	A549	lung:	n/a	chr2:211536688-211536699
43	CEBPB	chr2:211615583-211615910	HepG2	liver:	n/a	chr2:211615752-211615763 chr2:211615754-211615763 chr2:211615753-211615764
44	CEBPB	chr2:211500027-211500343	IMR90	lung:	n/a	chr2:211500176-211500187
45	CEBPB	chr2:211499906-211500483	HCT-116	colon:	n/a	chr2:211500176-211500187
46	CEBPB	chr2:211716092-211716387	HepG2	liver:	n/a	chr2:211716228-211716241 chr2:211716228-211716239 chr2:211716228-211716241 chr2:211716229-211716240 chr2:211716228-211716241
47	CEBPB	chr2:211528356-211528645	Hela-S3	cervix:	n/a	chr2:211528488-211528499 chr2:211528487-211528500 chr2:211528487-211528498
48	CEBPB	chr2:211663045-211663245	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr2:211528395-211528552	K562	blood:	n/a	chr2:211528488-211528499 chr2:211528487-211528500 chr2:211528487-211528498
50	CEBPB	chr2:211820176-211820752	Hela-S3	cervix:	n/a	chr2:211820451-211820463

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:211583084-211583134	HEEpiC	esophagus:	n/a
2	chr2:211503272-211503322	H1-hESC	embryonic stem cell:	embryo
3	chr2:211583084-211583134	BE2_C	brain:	n/a
4	chr2:211583084-211583134	GM06990	blood:	n/a
5	chr2:211583084-211583134	HAEpiC	amniotic membrane:	n/a
6	chr2:211539520-211539570	HRCEpiC	kidney:	n/a
7	chr2:211633248-211633298	U87	brain:	n/a
8	chr2:211583084-211583134	HCF	heart:	n/a
9	chr2:211503272-211503322	AG09319	gingival:	n/a
10	chr2:211583084-211583134	NB4	blood:	n/a
11	chr2:211503272-211503322	Jurkat	blood:	n/a
12	chr2:211698619-211698669	GM12878	blood:	n/a
13	chr2:211539520-211539570	PANC-1	pancreas:	n/a
14	chr2:211539520-211539570	H1-hESC	embryonic stem cell:	embryo
15	chr2:211583084-211583134	ovcar-3	ovarian:	n/a
16	chr2:211698619-211698669	K562	blood:	n/a
17	chr2:211633248-211633298	GM12878	blood:	n/a
18	chr2:211583084-211583134	HCPEpiC	choroid plexus:	n/a
19	chr2:211633248-211633298	HCM	heart:	n/a
20	chr2:211633248-211633298	HCPEpiC	choroid plexus:	n/a
21	chr2:211583084-211583134	LNCaP	prostate:	n/a
22	chr2:211698619-211698669	MCF-7	breast:	n/a
23	chr2:211698619-211698669	HCM	heart:	n/a
24	chr2:211633248-211633298	HRE	kidney:	n/a
25	chr2:211698619-211698669	AG04449	skin:	fetal
26	chr2:211583084-211583134	HCT-116	colon:	n/a
27	chr2:211583084-211583134	HL-60	blood:	n/a
28	chr2:211503272-211503322	BE2_C	brain:	n/a
29	chr2:211503272-211503322	MCF-7	breast:	n/a
30	chr2:211539520-211539570	AG09319	gingival:	n/a
31	chr2:211503272-211503322	AoSMC	blood vessel:	n/a
32	chr2:211539520-211539570	BJ	skin:	n/a
33	chr2:211583084-211583134	AG04450	lung:	fetal
34	chr2:211503272-211503322	SAEC	small airway:	n/a
35	chr2:211633248-211633298	GM19239	blood:	n/a
36	chr2:211539520-211539570	NB4	blood:	n/a
37	chr2:211583084-211583134	PANC-1	pancreas:	n/a
38	chr2:211539520-211539570	MCF10A-Er-Src	breast:	n/a
39	chr2:211698619-211698669	Hela-S3	cervix:	n/a
40	chr2:211503272-211503322	ECC-1	luminal epithelium:	n/a
41	chr2:211539520-211539570	GM06990	blood:	n/a
42	chr2:211503272-211503322	Hepatocyte	liver:	n/a
43	chr2:211539520-211539570	HIPEpiC	eye:	n/a
44	chr2:211503272-211503322	RPTEC	kidney:	n/a
45	chr2:211633248-211633298	HUVEC	blood vessel:	n/a
46	chr2:211539520-211539570	AG10803	skin:	n/a
47	chr2:211698619-211698669	GM19239	blood:	n/a
48	chr2:211698619-211698669	NHDF-neo	bronchial:	n/a
49	chr2:211698619-211698669	PANC-1	pancreas:	n/a
50	chr2:211633248-211633298	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:57922098..57924197-chr2:211699892..211701526,2	MCF-7	breast:
2	chr2:211527997..211528722-chr2:211900005..211900896,3	MCF-7	breast:
3	chr2:211644357..211645963-chr2:211649245..211651246,2	K562	blood:
4	chr1:17231812..17233115-chr2:211669787..211670787,3	HCT-116	colon:
5	chr2:211826156..211830730-chr2:211835135..211838762,5	MCF-7	breast:
6	chr1:17231485..17232131-chr2:211669767..211670267,2	Hela-S3	cervix:
7	chr2:211669822..211672544-chr2:211673084..211674833,2	K562	blood:
8	chr2:211499410..211501155-chr2:211508100..211509964,2	K562	blood:
9	chr2:211527960..211528912-chr2:211899983..211901271,6	MCF-7	breast:
10	chr2:211593761..211595532-chr2:211597006..211598681,2	K562	blood:
11	chr2:211528012..211528782-chr2:211919888..211920455,2	MCF-7	breast:
12	chr2:211676043..211678802-chr2:211682762..211685242,2	K562	blood:
13	chr2:211499410..211501155-chr2:211508100..211509964,2	K562	blood:
14	chr2:211669822..211672544-chr2:211673084..211674833,2	K562	blood:
15	chr2:211676043..211678802-chr2:211682762..211685242,2	K562	blood:
16	chr2:211527941..211528689-chr2:211896794..211897496,2	MCF-7	breast:
17	chr2:211644357..211645963-chr2:211649245..211651246,2	K562	blood:
18	chr2:211593761..211595532-chr2:211597006..211598681,2	K562	blood:

Variant related genes	Relation type
CPS1	TF binding region
CPS1	CpG island

Extended variants
information (count: 5945 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:5945 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535809564	chr2:211497606-211497607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7603980	chr2:211497650-211497651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7606750	chr2:211497694-211497695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138966409	chr2:211497698-211497699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566679398	chr2:211497721-211497722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538911666	chr2:211497726-211497727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374359766	chr2:211497728-211497729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7580149	chr2:211497813-211497814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575508182	chr2:211497911-211497912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183163602	chr2:211497915-211497916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115236271	chr2:211497941-211497942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557451032	chr2:211497960-211497961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549845940	chr2:211497989-211497990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568240057	chr2:211497999-211498000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535247795	chr2:211498017-211498018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187497335	chr2:211498029-211498030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543015195	chr2:211498069-211498070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553940589	chr2:211498089-211498090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7607234	chr2:211498096-211498097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563531842	chr2:211498131-211498132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7568096	chr2:211498142-211498143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559677909	chr2:211498157-211498158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532615599	chr2:211498195-211498196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7580590	chr2:211498199-211498200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565754617	chr2:211498266-211498267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573497975	chr2:211498288-211498289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7568329	chr2:211498332-211498333	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs193005746	chr2:211498410-211498411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7607412	chr2:211498423-211498424	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557650090	chr2:211498430-211498431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73984661	chr2:211498443-211498444	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528797432	chr2:211498673-211498674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13016856	chr2:211498699-211498700	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529716384	chr2:211498734-211498735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35586985	chr2:211498746-211498747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141593857	chr2:211498749-211498750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79562704	chr2:211498750-211498751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78793938	chr2:211498786-211498787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552403727	chr2:211498835-211498836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569084113	chr2:211498837-211498838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538006218	chr2:211498839-211498840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557512336	chr2:211498847-211498848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199578846	chr2:211498859-211498860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571015451	chr2:211498860-211498861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536741377	chr2:211498874-211498875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553138291	chr2:211498893-211498894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13017275	chr2:211498912-211498913	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs545385745	chr2:211498920-211498921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377215270	chr2:211498930-211498931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575453430	chr2:211498939-211498940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211491000-211498200	Weak transcription	Hela-S3	cervix
2	chr2:211493600-211498400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:211495200-211508000	Strong transcription	Duodenum Mucosa	Duodenum
4	chr2:211496200-211524800	Strong transcription	Liver	Liver
5	chr2:211496400-211498800	Weak transcription	Fetal Intestine Small	intestine
6	chr2:211496400-211504400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:211497400-211518000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:211498200-211529000	Strong transcription	Hela-S3	cervix
9	chr2:211498400-211499400	Strong transcription	Fetal Intestine Large	intestine
10	chr2:211498600-211501800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:211498800-211504200	Strong transcription	Fetal Intestine Small	intestine
12	chr2:211499400-211499800	Genic enhancers	Fetal Intestine Large	intestine
13	chr2:211499800-211500200	Strong transcription	Fetal Intestine Large	intestine
14	chr2:211500000-211500800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:211500200-211501200	Weak transcription	Fetal Intestine Large	intestine
16	chr2:211501000-211540600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:211501200-211501600	Genic enhancers	Fetal Intestine Large	intestine
18	chr2:211501600-211503400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:211501600-211503400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:211501600-211508000	Strong transcription	Fetal Intestine Large	intestine
21	chr2:211501800-211502400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:211501800-211502800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:211502200-211503200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:211502200-211503200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:211502200-211503200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:211502400-211502800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:211502800-211505000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:211503000-211503400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:211503200-211507800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:211503200-211523200	Weak transcription	Small Intestine	intestine
31	chr2:211504200-211504600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:211504200-211505600	Weak transcription	Fetal Intestine Small	intestine
33	chr2:211504400-211505400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:211505000-211507400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:211505400-211512600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:211505600-211506200	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr2:211505800-211506000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:211506000-211521600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:211506200-211511600	Weak transcription	Fetal Intestine Small	intestine
40	chr2:211507000-211507400	Enhancers	Brain Anterior Caudate	brain
41	chr2:211507400-211514600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:211508000-211509800	Weak transcription	Fetal Intestine Large	intestine
43	chr2:211508000-211510800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:211509400-211521200	Weak transcription	Ovary	ovary
45	chr2:211509800-211511800	Strong transcription	Fetal Intestine Large	intestine
46	chr2:211510800-211517600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr2:211511600-211512200	Enhancers	Fetal Intestine Small	intestine
48	chr2:211511800-211512200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:211511800-211512200	Genic enhancers	Fetal Intestine Large	intestine
50	chr2:211512200-211512600	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links