Variant report

Variant	nsv1054218
Chromosome Location	chr12:4819576-4882667
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	ATF1	chr12:4871967-4872279	K562	blood:	n/a	n/a
2	ATF2	chr12:4829583-4830213	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr12:4829776-4830202	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr12:4829810-4830234	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr12:4872873-4873073	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr12:4855461-4855465	GM12878	blood:	n/a	n/a
7	CEBPB	chr12:4836159-4836497	HepG2	liver:	n/a	n/a
8	CEBPB	chr12:4851519-4851706	A549	lung:	n/a	chr12:4851676-4851693
9	CEBPB	chr12:4836160-4836488	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr12:4836147-4836469	K562	blood:	n/a	n/a
11	CEBPB	chr12:4845138-4845467	MCF-7	breast:	n/a	n/a
12	CEBPB	chr12:4824180-4824391	HepG2	liver:	n/a	chr12:4824288-4824299
13	CHD1	chr12:4830116-4830330	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr12:4824113-4824291	HepG2	liver:	n/a	n/a
15	CHD2	chr12:4829781-4830183	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr12:4872809-4873035	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTBP2	chr12:4829623-4830143	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr12:4867397-4867543	A549	lung:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
19	CTCF	chr12:4872860-4873010	K562	blood:	n/a	n/a
20	CTCF	chr12:4872899-4872969	LNCaP	prostate:	n/a	n/a
21	CTCF	chr12:4827120-4827270	GM12864	blood:	n/a	n/a
22	CTCF	chr12:4841795-4841950	Medullo	brain:	n/a	n/a
23	CTCF	chr12:4867380-4867530	GM12872	blood:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
24	CTCF	chr12:4827140-4827290	GM12864	blood:	n/a	n/a
25	CTCF	chr12:4852354-4852479	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr12:4867380-4867530	GM12867	blood:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
27	CTCF	chr12:4827000-4827150	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr12:4827080-4827230	GM12868	blood:	n/a	n/a
29	CTCF	chr12:4872820-4872970	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr12:4867338-4867602	Hela-S3	cervix:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
31	CTCF	chr12:4867380-4867530	AG09319	gingival:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
32	CTCF	chr12:4827070-4827232	GM19239	blood:	n/a	n/a
33	CTCF	chr12:4867400-4867550	NHEK	skin:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
34	CTCF	chr12:4827100-4827250	GM12871	blood:	n/a	n/a
35	CTCF	chr12:4852367-4852497	GM12878	blood:	n/a	n/a
36	CTCF	chr12:4867341-4867610	Gliobla	brain:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
37	CTCF	chr12:4867340-4867490	GM12801	blood:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
38	CTCF	chr12:4867380-4867530	HMEC	breast:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
39	CTCF	chr12:4827080-4827230	GM12878	blood:	n/a	n/a
40	CTCF	chr12:4852431-4852496	GM19239	blood:	n/a	n/a
41	CTCF	chr12:4867380-4867530	HEEpiC	esophagus:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
42	CTCF	chr12:4867380-4867530	HPF	lung:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
43	CTCF	chr12:4867400-4867550	HRE	kidney:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
44	CTCF	chr12:4867400-4867550	AG04449	skin:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
45	CTCF	chr12:4867356-4867588	GM13976	blood:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
46	CTCF	chr12:4867336-4867607	MCF-7	breast:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
47	CTCF	chr12:4867260-4867410	HAc	cerebellar:	n/a	n/a
48	CTCF	chr12:4867420-4867570	GM12873	blood:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
49	CTCF	chr12:4867206-4867569	MCF-7	breast:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
50	CTCF	chr12:4867246-4867589	HCT-116	colon:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:4829827-4829877	BJ	skin:	n/a
2	chr12:4829624-4829674	AoSMC	blood vessel:	n/a
3	chr12:4829690-4829740	PANC-1	pancreas:	n/a
4	chr12:4829617-4829667	HCM	heart:	n/a
5	chr12:4829636-4829686	AG10803	skin:	n/a
6	chr12:4829115-4829165	NB4	blood:	n/a
7	chr12:4829115-4829165	HL-60	blood:	n/a
8	chr12:4872801-4872851	LNCaP	prostate:	n/a
9	chr12:4829624-4829674	HRE	kidney:	n/a
10	chr12:4829636-4829686	HNPCEpiC	eye:	n/a
11	chr12:4829624-4829674	HIPEpiC	eye:	n/a
12	chr12:4829286-4829336	HepG2	liver:	n/a
13	chr12:4829624-4829674	H1-hESC	embryonic stem cell:	embryo
14	chr12:4829464-4829514	PFSK-1	brain:	n/a
15	chr12:4829115-4829165	NH-A	brain:	n/a
16	chr12:4829624-4829674	HCPEpiC	choroid plexus:	n/a
17	chr12:4829286-4829336	Caco-2	colon:	n/a
18	chr12:4829827-4829877	GM12891	blood:	n/a
19	chr12:4829115-4829165	PrEC	prostate:	n/a
20	chr12:4872921-4872971	HCF	heart:	n/a
21	chr12:4829464-4829514	Jurkat	blood:	n/a
22	chr12:4829624-4829674	NT2-D1	testis:	n/a
23	chr12:4829617-4829667	HepG2	liver:	n/a
24	chr12:4829286-4829336	BJ	skin:	n/a
25	chr12:4829827-4829877	SKMC	muscle:	n/a
26	chr12:4829636-4829686	SK-N-MC	brain:	n/a
27	chr12:4829464-4829514	NHBE	bronchial:	n/a
28	chr12:4829827-4829877	AoSMC	blood vessel:	n/a
29	chr12:4829636-4829686	NH-A	brain:	n/a
30	chr12:4829115-4829165	PFSK-1	brain:	n/a
31	chr12:4872921-4872971	HRE	kidney:	n/a
32	chr12:4829464-4829514	MCF-7	breast:	n/a
33	chr12:4829286-4829336	AG04450	lung:	fetal
34	chr12:4829115-4829165	AG10803	skin:	n/a
35	chr12:4829624-4829674	AG10803	skin:	n/a
36	chr12:4829115-4829165	SKMC	muscle:	n/a
37	chr12:4829636-4829686	Hela-S3	cervix:	n/a
38	chr12:4829690-4829740	HEEpiC	esophagus:	n/a
39	chr12:4829624-4829674	AG09309	skin:	n/a
40	chr12:4829115-4829165	HNPCEpiC	eye:	n/a
41	chr12:4829286-4829336	HCPEpiC	choroid plexus:	n/a
42	chr12:4872921-4872971	ECC-1	luminal epithelium:	n/a
43	chr12:4829464-4829514	AoSMC	blood vessel:	n/a
44	chr12:4829624-4829674	ECC-1	luminal epithelium:	n/a
45	chr12:4829115-4829165	HepG2	liver:	n/a
46	chr12:4829690-4829740	AG09319	gingival:	n/a
47	chr12:4829464-4829514	HEEpiC	esophagus:	n/a
48	chr12:4872921-4872971	NHBE	bronchial:	n/a
49	chr12:4872801-4872851	Hela-S3	cervix:	n/a
50	chr12:4829286-4829336	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:4864992..4867674-chr12:4869599..4872090,2	K562	blood:
2	chr12:4713629..4714455-chr12:4867005..4867928,2	MCF-7	breast:
3	chr12:4877676..4880260-chr12:4884636..4887457,2	MCF-7	breast:
4	chr12:4819538..4821832-chr12:4825650..4828187,2	K562	blood:
5	chr12:4864992..4867674-chr12:4869599..4872090,2	K562	blood:
6	chr12:4842844..4845167-chr12:4846688..4848525,2	K562	blood:
7	chr12:4827505..4830211-chr12:4831579..4834182,2	K562	blood:
8	chr12:4530354..4531235-chr12:4867040..4867907,2	K562	blood:
9	chr12:4758235..4759777-chr12:4864892..4867372,2	MCF-7	breast:
10	chr12:4819538..4821832-chr12:4825650..4828187,2	K562	blood:
11	chr12:4688558..4689492-chr12:4866939..4867957,4	MCF-7	breast:
12	chr12:4842844..4845167-chr12:4846688..4848525,2	K562	blood:
13	chr12:4815512..4817728-chr12:4824833..4826836,2	K562	blood:
14	chr12:4873235..4875962-chr12:4887728..4890424,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKAP3-1	chr12:4829031-4829268	ENSG00000255474

Variant related genes	Relation type
ENSG00000255474	TF binding region
GALNT8	TF binding region
ENSG00000255474	CpG island
GALNT8	CpG island
ENSG00000010219	chromatin interactions
ENSG00000130035	chromatin interactions
ENSG00000255474	chromatin interactions
ENSG00000139180	chromatin interactions
ENSG00000272921	chromatin interactions

Extended variants
information (count: 2379 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2379 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74771163	chr12:4819633-4819634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559046896	chr12:4819670-4819671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572596777	chr12:4819778-4819779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190109428	chr12:4819785-4819786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112391962	chr12:4819799-4819800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554698171	chr12:4819830-4819831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573854662	chr12:4819843-4819844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4766276	chr12:4819865-4819866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs562694029	chr12:4819883-4819884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs997411	chr12:4819888-4819889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2058207	chr12:4819893-4819894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs141636684	chr12:4819921-4819922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12827952	chr12:4819997-4819998	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs371530552	chr12:4820072-4820073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569401611	chr12:4820075-4820076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182684933	chr12:4820082-4820083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7295581	chr12:4820101-4820102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs147090028	chr12:4820135-4820136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187974520	chr12:4820179-4820180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193185178	chr12:4820225-4820226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539209335	chr12:4820241-4820242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552817664	chr12:4820279-4820280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138246489	chr12:4820296-4820297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200546706	chr12:4820314-4820315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534832473	chr12:4820330-4820331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554943672	chr12:4820339-4820340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574779548	chr12:4820390-4820391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34502100	chr12:4820418-4820419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs149645768	chr12:4820459-4820460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575951752	chr12:4820485-4820486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115333021	chr12:4820535-4820536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs36008553	chr12:4820560-4820561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564767857	chr12:4820562-4820563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112091992	chr12:4820598-4820599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540809327	chr12:4820599-4820600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561260508	chr12:4820642-4820643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531024487	chr12:4820668-4820669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561050052	chr12:4820704-4820705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34625839	chr12:4820760-4820761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78941301	chr12:4820781-4820782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140553362	chr12:4820794-4820795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148372489	chr12:4820803-4820804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563939635	chr12:4820840-4820841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183366416	chr12:4820863-4820864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2058208	chr12:4820881-4820882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371646051	chr12:4820887-4820888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2058209	chr12:4820899-4820900	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535106287	chr12:4820908-4820909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548352852	chr12:4820919-4820920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142402187	chr12:4821038-4821039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
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
low-grade B-cell lymphoma tumor	18367492	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4799600-4826800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:4807400-4823800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:4810000-4827200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:4811200-4833600	Weak transcription	Brain Germinal Matrix	brain
5	chr12:4817600-4821800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:4817600-4823800	Weak transcription	Liver	Liver
7	chr12:4817800-4825000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:4818400-4820000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr12:4819200-4820800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:4820800-4822200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:4822200-4824000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:4823800-4824200	Enhancers	Duodenum Mucosa	Duodenum
13	chr12:4823800-4824400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:4823800-4824600	Enhancers	Liver	Liver
15	chr12:4824000-4824200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:4824000-4824200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:4824200-4824800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:4824200-4828400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:4824400-4825200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:4824400-4827000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:4824800-4825000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:4825000-4825400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:4825000-4827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:4825200-4825400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr12:4825400-4828400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:4825400-4828600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:4825800-4838200	Weak transcription	Gastric	stomach
28	chr12:4826400-4827000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:4826800-4827600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:4826800-4828400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr12:4826800-4830400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr12:4827000-4827600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:4827000-4827800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:4827000-4827800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:4827000-4829000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr12:4827200-4827400	Enhancers	Fetal Brain Female	brain
37	chr12:4827200-4827800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr12:4827200-4828600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr12:4827200-4830400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr12:4827400-4828000	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr12:4827400-4849600	Weak transcription	Fetal Brain Female	brain
42	chr12:4827600-4828600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:4827600-4828600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:4827800-4828200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:4827800-4828200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:4827800-4829000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:4828000-4828400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr12:4828000-4828800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr12:4828200-4829000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr12:4828200-4830600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links