Variant report

Variant	esv1813897
Chromosome Location	chr12:10563876-10602124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:506)
CpG islands
(count:306)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:10563882-10564383	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:10592356-10592503	HepG2	liver:	n/a	n/a
3	BATF	chr12:10598779-10599011	GM12878	blood:	n/a	chr12:10598893-10598904
4	BATF	chr12:10583308-10583579	GM12878	blood:	n/a	chr12:10583461-10583472
5	BCL11A	chr12:10598783-10598965	GM12878	blood:	n/a	n/a
6	BCL11A	chr12:10583293-10583483	GM12878	blood:	n/a	n/a
7	BCL3	chr12:10592167-10592607	A549	lung:	n/a	n/a
8	BRCA1	chr12:10574950-10575149	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr12:10574839-10575068	K562	blood:	n/a	n/a
10	CEBPB	chr12:10574805-10575159	K562	blood:	n/a	n/a
11	CEBPB	chr12:10573229-10573321	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr12:10577271-10577431	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr12:10590205-10590581	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr12:10585773-10585908	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr12:10574938-10575152	A549	lung:	n/a	n/a
16	CEBPB	chr12:10574940-10575149	HepG2	liver:	n/a	n/a
17	CEBPB	chr12:10590272-10590510	K562	blood:	n/a	n/a
18	CEBPB	chr12:10563725-10564405	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr12:10592348-10592508	HepG2	liver:	n/a	n/a
20	CEBPB	chr12:10592190-10592807	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr12:10600201-10600212	A549	lung:	n/a	n/a
22	CEBPB	chr12:10574947-10575139	K562	blood:	n/a	n/a
23	CEBPB	chr12:10592194-10592559	A549	lung:	n/a	n/a
24	CEBPB	chr12:10563736-10564412	HepG2	liver:	n/a	n/a
25	CEBPB	chr12:10574775-10575160	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr12:10588520-10588745	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr12:10563800-10564310	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr12:10590386-10590401	HepG2	liver:	n/a	n/a
29	CHD2	chr12:10590372-10590413	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr12:10574937-10575144	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr12:10577678-10577792	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr12:10572135-10572203	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr12:10577736-10577759	LNCaP	prostate:	n/a	n/a
34	CTCF	chr12:10569981-10570054	GM13976	blood:	n/a	n/a
35	CTCF	chr12:10563860-10564010	HMEC	breast:	n/a	n/a
36	CTCF	chr12:10577702-10577734	LNCaP	prostate:	n/a	n/a
37	CTCF	chr12:10577685-10577811	MCF-7	breast:	n/a	n/a
38	CTCF	chr12:10563866-10564053	K562	blood:	n/a	n/a
39	CTCF	chr12:10582110-10582224	MCF-7	breast:	n/a	n/a
40	CTCF	chr12:10563860-10564010	GM12872	blood:	n/a	n/a
41	CTCF	chr12:10593095-10593127	MCF-7	breast:	n/a	n/a
42	CTCF	chr12:10563880-10564030	HCT-116	colon:	n/a	n/a
43	CTCF	chr12:10563920-10564070	Caco-2	colon:	n/a	n/a
44	CTCF	chr12:10563880-10564030	GM12868	blood:	n/a	n/a
45	CTCF	chr12:10563860-10564010	GM12866	blood:	n/a	n/a
46	CTCF	chr12:10564040-10564190	GM12878	blood:	n/a	n/a
47	CTCF	chr12:10563840-10563990	Caco-2	colon:	n/a	n/a
48	CTCF	chr12:10563860-10564010	GM12873	blood:	n/a	n/a
49	CTCF	chr12:10563840-10563990	GM12874	blood:	n/a	n/a
50	CTCF	chr12:10563780-10563930	HCT-116	colon:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:10570179-10570229	SAEC	small airway:	n/a
2	chr12:10570179-10570229	SAEC	small airway:	n/a
3	chr12:10586130-10586180	PrEC	prostate:	n/a
4	chr12:10588483-10588533	GM06990	blood:	n/a
5	chr12:10570179-10570229	CMK	blood:	n/a
6	chr12:10599740-10599790	H1-hESC	embryonic stem cell:	embryo
7	chr12:10599740-10599790	AG10803	skin:	n/a
8	chr12:10599740-10599790	GM06990	blood:	n/a
9	chr12:10570179-10570229	HepG2	liver:	n/a
10	chr12:10599740-10599790	Jurkat	blood:	n/a
11	chr12:10583355-10583405	A549	lung:	n/a
12	chr12:10599740-10599790	HRPEpiC	eye:	n/a
13	chr12:10599740-10599790	HEEpiC	esophagus:	n/a
14	chr12:10588483-10588533	SKMC	muscle:	n/a
15	chr12:10586130-10586180	ECC-1	luminal epithelium:	n/a
16	chr12:10570179-10570229	AG10803	skin:	n/a
17	chr12:10570179-10570229	HMEC	breast:	n/a
18	chr12:10588483-10588533	GM12878	blood:	n/a
19	chr12:10588483-10588533	AoSMC	blood vessel:	n/a
20	chr12:10570179-10570229	GM12891	blood:	n/a
21	chr12:10586130-10586180	GM12891	blood:	n/a
22	chr12:10588483-10588533	RPTEC	kidney:	n/a
23	chr12:10583355-10583405	HMEC	breast:	n/a
24	chr12:10570179-10570229	NB4	blood:	n/a
25	chr12:10583355-10583405	SK-N-SH_RA	brain:	n/a
26	chr12:10586130-10586180	AG04449	skin:	fetal
27	chr12:10570179-10570229	ovcar-3	ovarian:	n/a
28	chr12:10599740-10599790	HUVEC	blood vessel:	n/a
29	chr12:10586130-10586180	HAEpiC	amniotic membrane:	n/a
30	chr12:10586130-10586180	T-47D	breast:	n/a
31	chr12:10583355-10583405	MCF-7	breast:	n/a
32	chr12:10583355-10583405	AoSMC	blood vessel:	n/a
33	chr12:10588483-10588533	U87	brain:	n/a
34	chr12:10588483-10588533	IMR90	lung:	fetal
35	chr12:10588483-10588533	HCPEpiC	choroid plexus:	n/a
36	chr12:10599740-10599790	HL-60	blood:	n/a
37	chr12:10586130-10586180	GM06990	blood:	n/a
38	chr12:10583355-10583405	Jurkat	blood:	n/a
39	chr12:10599740-10599790	Caco-2	colon:	n/a
40	chr12:10570179-10570229	AG09319	gingival:	n/a
41	chr12:10583355-10583405	HCF	heart:	n/a
42	chr12:10599740-10599790	BJ	skin:	n/a
43	chr12:10586130-10586180	HL-60	blood:	n/a
44	chr12:10586130-10586180	BJ	skin:	n/a
45	chr12:10588483-10588533	AG09309	skin:	n/a
46	chr12:10570179-10570229	HEEpiC	esophagus:	n/a
47	chr12:10570179-10570229	MCF-7	breast:	n/a
48	chr12:10588483-10588533	SK-N-SH	brain:	n/a
49	chr12:10588483-10588533	HMEC	breast:	n/a
50	chr12:10599740-10599790	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:28974955..28975586-chr12:10563608..10564342,2	Hela-S3	cervix:
2	chr12:10572017..10574193-chr12:10588542..10590731,2	MCF-7	breast:
3	chr12:10514090..10517702-chr12:10563594..10568036,4	K562	blood:
4	chr12:10572017..10574193-chr12:10588542..10590731,2	MCF-7	breast:
5	chr12:10563346..10565218-chr12:11316267..11318781,2	K562	blood:

(count:2 , 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-EIF2S3L.1-6	chr12:10601202-10602083	l_610_chr12:10597245-10602083_whiteBloodCell

No data

Variant related genes	Relation type
KLRC2	TF binding region
KLRC3	TF binding region
KLRC4	TF binding region
KLRC1	TF binding region
KLRC4-KLRK1	TF binding region
ENSG00000255641	TF binding region
KLRC2	CpG island
KLRC3	CpG island
KLRC4	CpG island
KLRC1	CpG island
KLRC4-KLRK1	CpG island
ENSG00000255641	CpG island
ENSG00000245648	chromatin interactions
ENSG00000205809	chromatin interactions
ENSG00000255641	chromatin interactions
ENSG00000205810	chromatin interactions
ENSG00000270103	chromatin interactions

Extended variants
information (count: 1722 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1722 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116789954	chr12:10563947-10563948	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs551927925	chr12:10564086-10564087	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs2460734	chr12:10564114-10564115	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534738326	chr12:10564136-10564137	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs113388815	chr12:10564164-10564165	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs112330004	chr12:10564172-10564173	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs114323860	chr12:10564193-10564194	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs568127664	chr12:10564218-10564219	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs536466766	chr12:10564232-10564233	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs74439142	chr12:10564264-10564265	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs369142842	chr12:10564270-10564271	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs192366544	chr12:10564305-10564306	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs576671653	chr12:10564308-10564309	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs375915426	chr12:10564310-10564311	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs558572424	chr12:10564321-10564322	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs2734562	chr12:10564329-10564330	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12578882	chr12:10564365-10564366	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs561070520	chr12:10564377-10564378	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs34483679	chr12:10564391-10564392	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs574831963	chr12:10564412-10564413	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs2682507	chr12:10564413-10564414	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113235406	chr12:10564466-10564467	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs563490391	chr12:10564468-10564469	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs532351842	chr12:10564516-10564517	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs188946306	chr12:10564532-10564533	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs181708924	chr12:10564565-10564566	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs184950105	chr12:10564576-10564577	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs1915326	chr12:10564582-10564583	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs117516142	chr12:10564601-10564602	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs377057781	chr12:10564632-10564633	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs370098293	chr12:10564643-10564644	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs78104174	chr12:10564650-10564651	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs139111264	chr12:10564702-10564703	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs527914726	chr12:10564746-10564747	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs77498036	chr12:10564819-10564820	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs538989851	chr12:10564827-10564828	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs558806440	chr12:10564831-10564832	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs566007995	chr12:10564881-10564882	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs548092749	chr12:10564898-10564899	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs189801875	chr12:10564909-10564910	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs143974481	chr12:10564925-10564926	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs146038951	chr12:10564945-10564946	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs2682506	chr12:10564963-10564964	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs17548990	chr12:10565004-10565005	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs985753	chr12:10565070-10565071	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs375130045	chr12:10565097-10565098	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs543896547	chr12:10565100-10565101	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs556906545	chr12:10565111-10565112	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs17548983	chr12:10565113-10565114	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs995873	chr12:10565134-10565135	Genic enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10548600-10564000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:10550800-10564000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:10559800-10564000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:10562200-10564000	Weak transcription	K562	blood
5	chr12:10562200-10566600	Weak transcription	Hela-S3	cervix
6	chr12:10562200-10572800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:10563000-10564400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:10563600-10564200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:10563600-10564600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:10563800-10564000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:10563800-10564000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:10563800-10564000	Enhancers	GM12878-XiMat	blood
13	chr12:10563800-10564200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:10563800-10564200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:10563800-10564200	Enhancers	Primary B cells from cord blood	blood
16	chr12:10563800-10564400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:10564000-10564200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:10564000-10564200	Enhancers	Brain Angular Gyrus	brain
19	chr12:10564000-10564400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr12:10564000-10564400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:10564000-10564400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr12:10564000-10564400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:10564000-10564400	Active TSS	Placenta	Placenta
24	chr12:10564000-10564400	Flanking Active TSS	GM12878-XiMat	blood
25	chr12:10564000-10564400	Active TSS	K562	blood
26	chr12:10564200-10564400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr12:10564400-10565400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:10564400-10570200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:10565400-10567400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:10566600-10567800	Strong transcription	Hela-S3	cervix
31	chr12:10567400-10569200	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:10567800-10569200	Genic enhancers	Hela-S3	cervix
33	chr12:10569200-10570200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:10569200-10570200	Weak transcription	Hela-S3	cervix
35	chr12:10570200-10570400	Flanking Active TSS	Hela-S3	cervix
36	chr12:10570200-10570600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr12:10570200-10571600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:10570400-10571400	Active TSS	Hela-S3	cervix
39	chr12:10570600-10572600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:10571400-10572600	Weak transcription	Hela-S3	cervix
41	chr12:10571600-10573800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:10572600-10573000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr12:10572600-10573200	Active TSS	Hela-S3	cervix
44	chr12:10572600-10573600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:10572800-10573000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr12:10572800-10573600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:10572800-10573600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:10572800-10573600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:10572800-10573600	Enhancers	A549	lung
50	chr12:10572800-10573600	Enhancers	Osteobl	bone

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