Variant report

Variant	esv2585568
Chromosome Location	chr12:22193755-22195183
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	chr12:22194995-22195174	HepG2	liver:	n/a	n/a
2	CEBPB	chr12:22194863-22195218	HepG2	liver:	n/a	n/a
3	E2F4	chr12:22195046-22195243	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr12:22194927-22195336	MCF10A-Er-Src	breast:	n/a	chr12:22195103-22195110 chr12:22195103-22195111 chr12:22195102-22195111
5	FOS	chr12:22194928-22195344	MCF10A-Er-Src	breast:	n/a	chr12:22195103-22195110 chr12:22195103-22195111 chr12:22195102-22195111
6	FOS	chr12:22194945-22195299	MCF10A-Er-Src	breast:	n/a	chr12:22195103-22195110 chr12:22195103-22195111 chr12:22195102-22195111
7	FOS	chr12:22194970-22195173	HUVEC	blood vessel:	n/a	chr12:22195103-22195110 chr12:22195103-22195111 chr12:22195102-22195111
8	FOS	chr12:22194890-22195242	MCF10A-Er-Src	breast:	n/a	chr12:22195103-22195110 chr12:22195103-22195111 chr12:22195102-22195111
9	FOSL1	chr12:22194917-22195203	K562	blood:	n/a	chr12:22195103-22195110 chr12:22195103-22195111 chr12:22195102-22195111
10	FOSL2	chr12:22194918-22195305	HepG2	liver:	n/a	chr12:22195100-22195111 chr12:22195103-22195110 chr12:22195103-22195111 chr12:22195102-22195111
11	FOSL2	chr12:22194934-22195232	HepG2	liver:	n/a	chr12:22195100-22195111 chr12:22195103-22195110 chr12:22195103-22195111 chr12:22195102-22195111
12	JUN	chr12:22194967-22195231	HepG2	liver:	n/a	chr12:22195103-22195110 chr12:22195103-22195111 chr12:22195102-22195111
13	JUND	chr12:22194940-22195318	HepG2	liver:	n/a	chr12:22195103-22195110 chr12:22195101-22195112 chr12:22195103-22195111 chr12:22195102-22195111
14	JUND	chr12:22194927-22195262	K562	blood:	n/a	chr12:22195103-22195110 chr12:22195101-22195112 chr12:22195103-22195111 chr12:22195102-22195111
15	JUND	chr12:22194964-22195184	HepG2	liver:	n/a	chr12:22195103-22195110 chr12:22195101-22195112 chr12:22195103-22195111 chr12:22195102-22195111
16	MYC	chr12:22194898-22195214	MCF10A-Er-Src	breast:	n/a	chr12:22195103-22195112
17	MYC	chr12:22195003-22195327	MCF10A-Er-Src	breast:	n/a	chr12:22195103-22195112
18	STAT3	chr12:22195036-22195123	MCF10A-Er-Src	breast:	n/a	chr12:22195103-22195112 chr12:22195102-22195111
19	STAT3	chr12:22195004-22195145	MCF10A-Er-Src	breast:	n/a	chr12:22195103-22195112 chr12:22195102-22195111
20	ZNF384	chr12:22194924-22195306	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:22189309..22194681-chr12:22195009..22198971,6	K562	blood:
2	chr12:22189309..22194681-chr12:22195009..22198971,6	K562	blood:
3	chr12:22189100..22191552-chr12:22195163..22197054,2	K562	blood:
4	chr12:22193469..22195434-chr12:22197628..22199736,2	MCF-7	breast:

Variant related genes	Relation type
CMAS	TF binding region
ENSG00000111726	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185083677	chr12:22193777-22193778	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs114080410	chr12:22193789-22193790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs55729019	chr12:22193867-22193868	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs201708373	chr12:22193881-22193882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs35407392	chr12:22193885-22193886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs373080546	chr12:22193886-22193887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570674646	chr12:22193900-22193901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539627465	chr12:22193970-22193971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556744346	chr12:22194008-22194009	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11834332	chr12:22194049-22194050	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535576044	chr12:22194050-22194051	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112283736	chr12:22194095-22194096	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11046272	chr12:22194161-22194162	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541299465	chr12:22194217-22194218	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144805352	chr12:22194244-22194245	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138751867	chr12:22194245-22194246	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79139061	chr12:22194270-22194271	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563541088	chr12:22194276-22194277	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531673867	chr12:22194283-22194284	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548663856	chr12:22194304-22194305	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561716733	chr12:22194322-22194323	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs553465958	chr12:22194325-22194326	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189594512	chr12:22194359-22194360	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs75882892	chr12:22194361-22194362	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192837763	chr12:22194382-22194383	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536889400	chr12:22194416-22194417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146280338	chr12:22194440-22194441	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550097860	chr12:22194450-22194451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570240006	chr12:22194512-22194513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535175148	chr12:22194513-22194514	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs115006298	chr12:22194539-22194540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79709339	chr12:22194567-22194568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183678037	chr12:22194568-22194569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs557836549	chr12:22194651-22194652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374354327	chr12:22194663-22194664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs75081308	chr12:22194668-22194669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs76224486	chr12:22194669-22194670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs74861067	chr12:22194671-22194672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs577853949	chr12:22194741-22194742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543711707	chr12:22194750-22194751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs556833274	chr12:22194781-22194782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573798949	chr12:22194782-22194783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs148287620	chr12:22194790-22194791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561827729	chr12:22194811-22194812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112784006	chr12:22194812-22194813	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112356621	chr12:22194824-22194825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564180229	chr12:22194828-22194829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374594648	chr12:22194899-22194900	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs60903959	chr12:22194900-22194901	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs577095570	chr12:22194901-22194902	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22188200-22199200	Weak transcription	Aorta	Aorta
2	chr12:22188400-22198800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:22189400-22195000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:22189800-22195000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:22189800-22195000	Weak transcription	HepG2	liver
6	chr12:22191200-22195000	Weak transcription	K562	blood
7	chr12:22192800-22199200	Weak transcription	Placenta	Placenta
8	chr12:22193000-22194000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:22193000-22194400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:22194000-22194400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:22194400-22196200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:22194400-22196400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:22195000-22196000	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr12:22195000-22196000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:22195000-22196400	Enhancers	HMEC	breast
16	chr12:22195000-22196600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:22195000-22196600	Enhancers	Osteobl	bone
18	chr12:22195000-22198600	Enhancers	K562	blood
19	chr12:22195000-22198800	Enhancers	HepG2	liver
20	chr12:22195000-22199000	Enhancers	Fetal Intestine Small	intestine

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