Variant report

Variant	esv3783
Chromosome Location	chr12:1863806-1864551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1856328..1858670-chr12:1861251..1864008,2	K562	blood:
2	chr12:1856721..1858693-chr12:1863172..1864680,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539037104	chr12:1863845-1863846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139616464	chr12:1863853-1863854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375034071	chr12:1863860-1863861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112933502	chr12:1863861-1863862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71055193	chr12:1863862-1863863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10082811	chr12:1863865-1863866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541314809	chr12:1863869-1863870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553194791	chr12:1863871-1863872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574666694	chr12:1863882-1863883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548449938	chr12:1863883-1863884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145116184	chr12:1863889-1863890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59598626	chr12:1863901-1863902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542343320	chr12:1863912-1863913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541262189	chr12:1863913-1863914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563596692	chr12:1863916-1863917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530956035	chr12:1863922-1863923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575288480	chr12:1863930-1863931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183702480	chr12:1863931-1863932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537578920	chr12:1863945-1863946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528442552	chr12:1863947-1863948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546895255	chr12:1863951-1863952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568298594	chr12:1863954-1863955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202077711	chr12:1863967-1863968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367779282	chr12:1864002-1864003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568814490	chr12:1864016-1864017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539426413	chr12:1864020-1864021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557507060	chr12:1864026-1864027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143841215	chr12:1864046-1864047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148190267	chr12:1864082-1864083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372124926	chr12:1864119-1864120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553235693	chr12:1864131-1864132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10082890	chr12:1864217-1864218	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs141166884	chr12:1864230-1864231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150737788	chr12:1864232-1864233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35332074	chr12:1864246-1864247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113589005	chr12:1864257-1864258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546277120	chr12:1864266-1864267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564501121	chr12:1864369-1864370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60324914	chr12:1864402-1864403	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540552118	chr12:1864403-1864404	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561938466	chr12:1864428-1864429	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193241771	chr12:1864462-1864463	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550463651	chr12:1864471-1864472	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536488605	chr12:1864475-1864476	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562692734	chr12:1864477-1864478	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116636830	chr12:1864478-1864479	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551037415	chr12:1864506-1864507	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566163210	chr12:1864521-1864522	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533510581	chr12:1864534-1864535	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185039844	chr12:1864537-1864538	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	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
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1866400	Weak transcription	Esophagus	oesophagus
2	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
3	chr12:1823000-1866600	Weak transcription	Gastric	stomach
4	chr12:1824000-1866600	Weak transcription	HSMM	muscle
5	chr12:1826000-1885400	Weak transcription	NH-A	brain
6	chr12:1845600-1885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:1847600-1885200	Weak transcription	Right Atrium	heart
8	chr12:1849800-1868400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:1849800-1868800	Weak transcription	Pancreas	Pancrea
10	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
11	chr12:1850000-1866600	Weak transcription	Fetal Lung	lung
12	chr12:1850200-1865800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:1850200-1885200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:1850400-1870400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
16	chr12:1850800-1885200	Weak transcription	Right Ventricle	heart
17	chr12:1851000-1866400	Weak transcription	NHLF	lung
18	chr12:1851400-1866600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:1851600-1866400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:1851800-1876600	Weak transcription	Stomach Mucosa	stomach
21	chr12:1854400-1864400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:1854600-1870400	Weak transcription	HSMMtube	muscle
23	chr12:1856000-1866400	Weak transcription	HUVEC	blood vessel
24	chr12:1856600-1872000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:1857200-1864400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:1857200-1864600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:1857200-1865800	Weak transcription	Primary B cells from cord blood	blood
28	chr12:1857200-1866400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:1857200-1870000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:1857200-1892800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:1857200-1893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:1857400-1864200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:1857400-1864400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr12:1857400-1868000	Weak transcription	Fetal Brain Female	brain
35	chr12:1858200-1864400	Weak transcription	A549	lung
36	chr12:1858200-1866200	Weak transcription	Hela-S3	cervix
37	chr12:1858200-1866400	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:1858200-1866400	Weak transcription	Lung	lung
39	chr12:1858200-1866400	Weak transcription	Spleen	Spleen
40	chr12:1858400-1868000	Weak transcription	Osteobl	bone
41	chr12:1858400-1869800	Weak transcription	NHDF-Ad	bronchial
42	chr12:1858600-1864400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:1858600-1865800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:1859200-1866600	Weak transcription	Psoas Muscle	Psoas
45	chr12:1860400-1869600	Weak transcription	K562	blood
46	chr12:1861200-1865800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:1861400-1866200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:1861600-1864200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:1861600-1869800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:1861800-1864000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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