Variant report

Variant	nsv557458
Chromosome Location	chr12:10546140-10698255
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1212)
CpG islands
(count:794)
Chromatin interactive
region (count:17)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1212 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:10592356-10592503	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:10653777-10653877	K562	blood:	n/a	n/a
3	ARID3A	chr12:10563882-10564383	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:10548121-10548681	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:10562084-10562332	K562	blood:	n/a	n/a
6	ATF1	chr12:10562095-10562363	K562	blood:	n/a	n/a
7	ATF2	chr12:10693152-10694036	GM12878	blood:	n/a	n/a
8	ATF2	chr12:10547858-10548386	GM12878	blood:	n/a	n/a
9	ATF2	chr12:10693081-10694102	GM12878	blood:	n/a	n/a
10	ATF2	chr12:10695894-10696491	GM12878	blood:	n/a	n/a
11	ATF2	chr12:10695883-10696624	GM12878	blood:	n/a	n/a
12	BATF	chr12:10641906-10642182	GM12878	blood:	n/a	chr12:10642014-10642025
13	BATF	chr12:10583308-10583579	GM12878	blood:	n/a	chr12:10583461-10583472
14	BATF	chr12:10696061-10696446	GM12878	blood:	n/a	n/a
15	BATF	chr12:10598779-10599011	GM12878	blood:	n/a	chr12:10598893-10598904
16	BATF	chr12:10696036-10696487	GM12878	blood:	n/a	n/a
17	BATF	chr12:10693300-10693868	GM12878	blood:	n/a	chr12:10693650-10693661
18	BATF	chr12:10641882-10642185	GM12878	blood:	n/a	chr12:10642014-10642025
19	BATF	chr12:10693317-10693939	GM12878	blood:	n/a	chr12:10693650-10693661
20	BCL11A	chr12:10693354-10693625	GM12878	blood:	n/a	n/a
21	BCL11A	chr12:10696199-10696390	GM12878	blood:	n/a	n/a
22	BCL11A	chr12:10693310-10693858	GM12878	blood:	n/a	n/a
23	BCL11A	chr12:10583293-10583483	GM12878	blood:	n/a	n/a
24	BCL11A	chr12:10696076-10696426	GM12878	blood:	n/a	n/a
25	BCL11A	chr12:10547875-10548349	GM12878	blood:	n/a	n/a
26	BCL11A	chr12:10671811-10671985	GM12878	blood:	n/a	n/a
27	BCL11A	chr12:10598783-10598965	GM12878	blood:	n/a	n/a
28	BCL11A	chr12:10547793-10548282	GM12878	blood:	n/a	n/a
29	BCL3	chr12:10695995-10696628	GM12878	blood:	n/a	n/a
30	BCL3	chr12:10693210-10693959	GM12878	blood:	n/a	n/a
31	BCL3	chr12:10592167-10592607	A549	lung:	n/a	n/a
32	BCL3	chr12:10696031-10696586	GM12878	blood:	n/a	n/a
33	BCL3	chr12:10693360-10693849	GM12878	blood:	n/a	n/a
34	BCLAF1	chr12:10693217-10694044	GM12878	blood:	n/a	n/a
35	BCLAF1	chr12:10547846-10548369	GM12878	blood:	n/a	n/a
36	BCLAF1	chr12:10693241-10693808	GM12878	blood:	n/a	n/a
37	BCLAF1	chr12:10696071-10696445	GM12878	blood:	n/a	n/a
38	BHLHE40	chr12:10559427-10559772	K562	blood:	n/a	n/a
39	BHLHE40	chr12:10693305-10693679	GM12878	blood:	n/a	n/a
40	BHLHE40	chr12:10559410-10559764	GM12878	blood:	n/a	n/a
41	BHLHE40	chr12:10562058-10562261	K562	blood:	n/a	n/a
42	BHLHE40	chr12:10547847-10548665	GM12878	blood:	n/a	n/a
43	BRCA1	chr12:10574950-10575149	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr12:10546999-10547736	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr12:10562044-10562186	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr12:10676248-10676302	GM12878	blood:	n/a	n/a
47	CBX3	chr12:10608263-10608767	HCT-116	colon:	n/a	n/a
48	CEBPB	chr12:10590205-10590581	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr12:10585773-10585908	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr12:10675319-10675536	HepG2	liver:	n/a	chr12:10675436-10675447

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:10588483-10588533	PFSK-1	brain:	n/a
2	chr12:10588483-10588533	PFSK-1	brain:	n/a
3	chr12:10658281-10658331	NB4	blood:	n/a
4	chr12:10570179-10570229	PANC-1	pancreas:	n/a
5	chr12:10588483-10588533	GM12892	blood:	n/a
6	chr12:10583355-10583405	HUVEC	blood vessel:	n/a
7	chr12:10588483-10588533	HPAEpiC	pulmonary alveolar:	n/a
8	chr12:10560602-10560652	AG04450	lung:	fetal
9	chr12:10605936-10605986	H1-hESC	embryonic stem cell:	embryo
10	chr12:10658425-10658475	MCF10A-Er-Src	breast:	n/a
11	chr12:10586130-10586180	A549	lung:	n/a
12	chr12:10599740-10599790	H1-hESC	embryonic stem cell:	embryo
13	chr12:10658281-10658331	Hela-S3	cervix:	n/a
14	chr12:10607538-10607588	AG09319	gingival:	n/a
15	chr12:10588483-10588533	NH-A	brain:	n/a
16	chr12:10608067-10608117	ECC-1	luminal epithelium:	n/a
17	chr12:10658539-10658589	HUVEC	blood vessel:	n/a
18	chr12:10658425-10658475	AG04449	skin:	fetal
19	chr12:10607538-10607588	SKMC	muscle:	n/a
20	chr12:10583355-10583405	T-47D	breast:	n/a
21	chr12:10658425-10658475	Hepatocyte	liver:	n/a
22	chr12:10570179-10570229	AG09319	gingival:	n/a
23	chr12:10658425-10658475	NHDF-neo	bronchial:	n/a
24	chr12:10583355-10583405	HRCEpiC	kidney:	n/a
25	chr12:10607364-10607414	AG04449	skin:	fetal
26	chr12:10607538-10607588	K562	blood:	n/a
27	chr12:10658539-10658589	AG09319	gingival:	n/a
28	chr12:10607538-10607588	Caco-2	colon:	n/a
29	chr12:10586130-10586180	PrEC	prostate:	n/a
30	chr12:10658425-10658475	BE2_C	brain:	n/a
31	chr12:10658425-10658475	LNCaP	prostate:	n/a
32	chr12:10586130-10586180	HCM	heart:	n/a
33	chr12:10560602-10560652	HRCEpiC	kidney:	n/a
34	chr12:10605936-10605986	LNCaP	prostate:	n/a
35	chr12:10658281-10658331	HL-60	blood:	n/a
36	chr12:10583355-10583405	SAEC	small airway:	n/a
37	chr12:10560602-10560652	AG10803	skin:	n/a
38	chr12:10605936-10605986	IMR90	lung:	fetal
39	chr12:10607364-10607414	HEK293	kidney:	embryo
40	chr12:10586130-10586180	SK-N-MC	brain:	n/a
41	chr12:10586130-10586180	NHDF-neo	bronchial:	n/a
42	chr12:10607364-10607414	HIPEpiC	eye:	n/a
43	chr12:10560602-10560652	SK-N-MC	brain:	n/a
44	chr12:10607364-10607414	SK-N-SH	brain:	n/a
45	chr12:10607364-10607414	U87	brain:	n/a
46	chr12:10607538-10607588	NT2-D1	testis:	n/a
47	chr12:10607538-10607588	ovcar-3	ovarian:	n/a
48	chr12:10560602-10560652	HEEpiC	esophagus:	n/a
49	chr12:10607364-10607414	GM12891	blood:	n/a
50	chr12:10570179-10570229	ECC-1	luminal epithelium:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:10388252..10388816-chr12:10653557..10654233,2	MCF-7	breast:
2	chr12:10484099..10484956-chr12:10652861..10653779,2	MCF-7	breast:
3	chr12:10547736..10550018-chr12:10555798..10557891,2	MCF-7	breast:
4	chr12:10554334..10554872-chr16:81477760..81478703,2	Hela-S3	cervix:
5	chr1:28974955..28975586-chr12:10563608..10564342,2	Hela-S3	cervix:
6	chr12:10693047..10695502-chr12:10698886..10701191,2	K562	blood:
7	chr12:10559960..10560793-chrX:131351678..131352452,2	Hela-S3	cervix:
8	chr12:10514090..10517702-chr12:10563594..10568036,4	K562	blood:
9	chr12:10572017..10574193-chr12:10588542..10590731,2	MCF-7	breast:
10	chr12:10548044..10548696-chr9:117267865..117268396,2	Hela-S3	cervix:
11	chr12:10563346..10565218-chr12:11316267..11318781,2	K562	blood:
12	chr12:10547736..10550018-chr12:10555798..10557891,2	MCF-7	breast:
13	chr12:10604438..10606172-chr12:10606795..10608691,2	K562	blood:
14	chr12:10572017..10574193-chr12:10588542..10590731,2	MCF-7	breast:
15	chr12:10561211..10561774-chr17:76182659..76183234,2	Hela-S3	cervix:
16	chr12:10604438..10606172-chr12:10606795..10608691,2	K562	blood:
17	chr12:10527378..10530229-chr12:10546803..10548399,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2S3L.1-6	chr12:10597246-10597382	l_610_chr12:10597245-10602083_whiteBloodCell
2	lnc-KLRD1-1	chr12:10548778-10551105	ENSG00000245648
3	lnc-EIF2S3L.1-6	chr12:10601202-10602083	l_610_chr12:10597245-10602083_whiteBloodCell

No data

Variant related genes	Relation type
KLRC3	TF binding region
KLRC4	TF binding region
KLRC4-KLRK1	TF binding region
ENSG00000255641	TF binding region
ENSG00000180574	TF binding region
KLRC2	TF binding region
KLRK1	TF binding region
KLRC1	TF binding region
KLRC3	CpG island
KLRC4	CpG island
KLRC4-KLRK1	CpG island
ENSG00000255641	CpG island
ENSG00000180574	CpG island
KLRC2	CpG island
KLRK1	CpG island
KLRC1	CpG island
ENSG00000134545	chromatin interactions
ENSG00000255641	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000245648	chromatin interactions
ENSG00000123728	chromatin interactions
ENSG00000167900	chromatin interactions
ENSG00000205809	chromatin interactions
ENSG00000205810	chromatin interactions
ESR1	miRNA target sites

Extended variants
information (count: 4402 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:4402 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7972757	chr12:10546140-10546141	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73256286	chr12:10546154-10546155	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536425432	chr12:10546164-10546165	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs80199647	chr12:10546187-10546188	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs374462479	chr12:10546206-10546207	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs2250877	chr12:10546258-10546259	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs112847162	chr12:10546290-10546291	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs2617163	chr12:10546315-10546316	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs544855718	chr12:10546348-10546349	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs558176867	chr12:10546376-10546377	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2126888	chr12:10546388-10546389	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs536547382	chr12:10546409-10546410	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs140880433	chr12:10546444-10546445	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs561014455	chr12:10546484-10546485	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs186545226	chr12:10546525-10546526	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs543219674	chr12:10546568-10546569	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs11832581	chr12:10546603-10546604	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs201556242	chr12:10546604-10546605	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs532048639	chr12:10546708-10546709	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs544957292	chr12:10546750-10546751	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs150154331	chr12:10546793-10546794	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs527669916	chr12:10546886-10546887	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs190330109	chr12:10546943-10546944	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201549215	chr12:10547014-10547015	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs567770874	chr12:10547025-10547026	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs76177451	chr12:10547030-10547031	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs536316697	chr12:10547061-10547062	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs549567213	chr12:10547124-10547125	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs564962519	chr12:10547132-10547133	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs112342141	chr12:10547162-10547163	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs17549032	chr12:10547192-10547193	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs538587492	chr12:10547198-10547199	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs558414199	chr12:10547200-10547201	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs571971064	chr12:10547220-10547221	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs149288594	chr12:10547264-10547265	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs182553740	chr12:10547279-10547280	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs185644341	chr12:10547283-10547284	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs554232538	chr12:10547317-10547318	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs2617164	chr12:10547338-10547339	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543497158	chr12:10547360-10547361	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs563123915	chr12:10547367-10547368	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs576700882	chr12:10547388-10547389	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs545750529	chr12:10547389-10547390	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs113247479	chr12:10547400-10547401	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs2859572	chr12:10547402-10547403	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs527953703	chr12:10547408-10547409	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs547787412	chr12:10547428-10547429	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs561078667	chr12:10547478-10547479	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs530259295	chr12:10547535-10547536	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs199795648	chr12:10547542-10547543	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10519600-10547800	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:10525400-10547200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:10534800-10548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:10542000-10549200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:10542800-10547800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:10543800-10547600	Enhancers	Hela-S3	cervix
7	chr12:10543800-10547800	Enhancers	Primary B cells from cord blood	blood
8	chr12:10544200-10548200	Enhancers	Primary T cells from cord blood	blood
9	chr12:10544400-10546200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:10544400-10546200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr12:10544400-10547800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:10544400-10548200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:10544400-10550800	Enhancers	Primary B cells from peripheral blood	blood
14	chr12:10544600-10548800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:10544600-10549000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:10544800-10546400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:10544800-10547800	Weak transcription	Adipose Nuclei	Adipose
18	chr12:10545200-10547800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:10545200-10548000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:10545400-10546400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr12:10545400-10546800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr12:10545400-10547000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:10545400-10547000	Weak transcription	Fetal Thymus	thymus
24	chr12:10545400-10548000	Weak transcription	Fetal Lung	lung
25	chr12:10545400-10548000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:10545400-10548000	Weak transcription	HSMMtube	muscle
27	chr12:10545400-10548200	Enhancers	NHEK	skin
28	chr12:10545400-10549000	Enhancers	HMEC	breast
29	chr12:10545600-10546200	Enhancers	GM12878-XiMat	blood
30	chr12:10545600-10547000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:10545600-10547200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:10545600-10548400	Weak transcription	Esophagus	oesophagus
33	chr12:10545800-10547000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:10545800-10547200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:10545800-10547600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:10545800-10547600	Weak transcription	A549	lung
37	chr12:10545800-10547800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:10545800-10547800	Weak transcription	HSMM	muscle
39	chr12:10545800-10547800	Weak transcription	Osteobl	bone
40	chr12:10546000-10547600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:10546000-10547600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr12:10546000-10547800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:10546200-10547600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:10546200-10547600	Weak transcription	GM12878-XiMat	blood
45	chr12:10546200-10548000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:10546400-10546600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr12:10546400-10546800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:10546600-10546800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr12:10546800-10547000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr12:10546800-10547200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links