Variant report

Variant	esv33276
Chromosome Location	chr12:4553216-4554993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:734)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:4554664-4554840	K562	blood:	n/a	chr12:4554751-4554762 chr12:4554752-4554762 chr12:4554750-4554763 chr12:4554753-4554760 chr12:4554751-4554761 chr12:4554752-4554761 chr12:4554751-4554762 chr12:4554751-4554761 chr12:4554753-4554762 chr12:4554752-4554761
2	POLR2A	chr12:4553704-4553737	MCF10A-Er-Src	breast:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:4554596-4554646	HPAEpiC	pulmonary alveolar:	n/a
2	chr12:4554962-4555012	NB4	blood:	n/a
3	chr12:4554596-4554646	HPAEpiC	pulmonary alveolar:	n/a
4	chr12:4554962-4555012	NB4	blood:	n/a
5	chr12:4554295-4554345	HEEpiC	esophagus:	n/a
6	chr12:4554809-4554859	ovcar-3	ovarian:	n/a
7	chr12:4554756-4554806	HCPEpiC	choroid plexus:	n/a
8	chr12:4554623-4554673	Jurkat	blood:	n/a
9	chr12:4554971-4555021	RPTEC	kidney:	n/a
10	chr12:4554786-4554836	LNCaP	prostate:	n/a
11	chr12:4554878-4554928	AG09309	skin:	n/a
12	chr12:4554756-4554806	ovcar-3	ovarian:	n/a
13	chr12:4554940-4554990	HNPCEpiC	eye:	n/a
14	chr12:4554786-4554836	AG10803	skin:	n/a
15	chr12:4554756-4554806	Jurkat	blood:	n/a
16	chr12:4554623-4554673	ProgFib	skin:	n/a
17	chr12:4554596-4554646	HMEC	breast:	n/a
18	chr12:4554971-4555021	ProgFib	skin:	n/a
19	chr12:4554463-4554513	SK-N-MC	brain:	n/a
20	chr12:4554809-4554859	HEK293	kidney:	embryo
21	chr12:4554809-4554859	Jurkat	blood:	n/a
22	chr12:4554809-4554859	HRE	kidney:	n/a
23	chr12:4554756-4554806	AoSMC	blood vessel:	n/a
24	chr12:4554971-4555021	ovcar-3	ovarian:	n/a
25	chr12:4554480-4554530	AG04450	lung:	fetal
26	chr12:4554962-4555012	IMR90	lung:	fetal
27	chr12:4554786-4554836	GM06990	blood:	n/a
28	chr12:4554596-4554646	LNCaP	prostate:	n/a
29	chr12:4554809-4554859	T-47D	breast:	n/a
30	chr12:4554940-4554990	NHDF-neo	bronchial:	n/a
31	chr12:4554971-4555021	GM12878	blood:	n/a
32	chr12:4554596-4554646	AG09319	gingival:	n/a
33	chr12:4554940-4554990	IMR90	lung:	fetal
34	chr12:4554786-4554836	Jurkat	blood:	n/a
35	chr12:4554463-4554513	ECC-1	luminal epithelium:	n/a
36	chr12:4554971-4555021	GM19239	blood:	n/a
37	chr12:4554295-4554345	ProgFib	skin:	n/a
38	chr12:4554596-4554646	ProgFib	skin:	n/a
39	chr12:4554596-4554646	Hela-S3	cervix:	n/a
40	chr12:4554756-4554806	HNPCEpiC	eye:	n/a
41	chr12:4554940-4554990	HMEC	breast:	n/a
42	chr12:4554786-4554836	HRPEpiC	eye:	n/a
43	chr12:4554463-4554513	IMR90	lung:	fetal
44	chr12:4554809-4554859	MCF-7	breast:	n/a
45	chr12:4554962-4555012	MCF10A-Er-Src	breast:	n/a
46	chr12:4554940-4554990	HCT-116	colon:	n/a
47	chr12:4554809-4554859	A549	lung:	n/a
48	chr12:4554623-4554673	MCF-7	breast:	n/a
49	chr12:4554623-4554673	HIPEpiC	eye:	n/a
50	chr12:4554596-4554646	SKMC	muscle:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4550824..4553664-chr12:4554520..4557456,3	K562	blood:
2	chr12:4550824..4553664-chr12:4554520..4557456,3	K562	blood:

No data

Variant related genes	Relation type
FGF6	TF binding region
FGF6	CpG island
ENSG00000111241	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2970827	chr12:4553224-4553225	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556049786	chr12:4553228-4553229	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146672099	chr12:4553299-4553300	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140216440	chr12:4553300-4553301	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145168026	chr12:4553304-4553305	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138991329	chr12:4553305-4553306	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569853562	chr12:4553321-4553322	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs149005865	chr12:4553324-4553325	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2241280	chr12:4553332-4553333	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs148135963	chr12:4553361-4553362	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375876276	chr12:4553370-4553371	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141906537	chr12:4553371-4553372	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532205756	chr12:4553375-4553376	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2241279	chr12:4553383-4553384	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs377044251	chr12:4553384-4553385	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139049599	chr12:4553391-4553392	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs17183585	chr12:4553425-4553426	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368814301	chr12:4553434-4553435	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554179923	chr12:4553465-4553466	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575000177	chr12:4553473-4553474	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188476812	chr12:4553484-4553485	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs17183578	chr12:4553516-4553517	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2241278	chr12:4553518-4553519	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191714296	chr12:4553519-4553520	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2241277	chr12:4553523-4553524	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548144357	chr12:4553565-4553566	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150958731	chr12:4553660-4553661	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2970828	chr12:4553669-4553670	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs527710663	chr12:4553699-4553700	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs140756097	chr12:4553700-4553701	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs2970829	chr12:4553744-4553745	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs17177165	chr12:4553747-4553748	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs2970830	chr12:4553750-4553751	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs558357055	chr12:4553803-4553804	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs565419968	chr12:4553880-4553881	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs534426505	chr12:4553947-4553948	Enhancers Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs17183557	chr12:4554044-4554045	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs570338259	chr12:4554060-4554061	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs187564042	chr12:4554149-4554150	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs17183550	chr12:4554187-4554188	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs536174388	chr12:4554217-4554218	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs17183543	chr12:4554218-4554219	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs191287801	chr12:4554238-4554239	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs71583764	chr12:4554276-4554277	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs573341579	chr12:4554296-4554297	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs183792890	chr12:4554299-4554300	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs561888200	chr12:4554308-4554309	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs17183536	chr12:4554309-4554310	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs550744599	chr12:4554313-4554314	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs563575884	chr12:4554331-4554332	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Breast cancer	21364760	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
Chordoma	18071362	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4548400-4553400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:4548400-4553600	Enhancers	Fetal Thymus	thymus
3	chr12:4548600-4554800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:4549600-4558800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:4550000-4553800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:4551000-4559000	Weak transcription	Right Atrium	heart
7	chr12:4551200-4554200	Weak transcription	Psoas Muscle	Psoas
8	chr12:4551600-4553400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:4551600-4553600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr12:4551600-4556400	Weak transcription	Fetal Brain Male	brain
11	chr12:4551800-4553400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:4551800-4554000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:4551800-4556400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:4551800-4559000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:4552000-4553800	Enhancers	Dnd41	blood
16	chr12:4552000-4558200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:4552600-4554800	Active TSS	Fetal Muscle Leg	muscle
18	chr12:4552800-4553600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:4553000-4553400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:4553000-4553600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr12:4553000-4554400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
22	chr12:4553200-4553400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:4553200-4553400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:4553200-4553800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:4553400-4554200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:4553400-4554400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:4553400-4559000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:4553600-4554000	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr12:4553600-4554000	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr12:4553600-4554200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:4553600-4559000	Weak transcription	Fetal Thymus	thymus
32	chr12:4553800-4554400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:4553800-4558200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:4553800-4559000	Weak transcription	Dnd41	blood
35	chr12:4554000-4554200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr12:4554000-4554400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr12:4554000-4555000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr12:4554000-4555800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr12:4554200-4554800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:4554200-4554800	Enhancers	Psoas Muscle	Psoas
41	chr12:4554200-4555200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:4554400-4555000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr12:4554400-4555400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:4554400-4558200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:4554600-4554800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:4554800-4555000	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr12:4554800-4555200	Weak transcription	Psoas Muscle	Psoas
48	chr12:4554800-4556200	Weak transcription	H1 Cell Line	embryonic stem cell

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