Variant report

Variant	nsv1041740
Chromosome Location	chr12:2218997-2259643
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:2166299..2167006-chr12:2226935..2227452,2	MCF-7	breast:
2	chr12:2256847..2258377-chr12:2264743..2267283,2	MCF-7	breast:
3	chr12:2254060..2256040-chr12:2258955..2261902,2	MCF-7	breast:
4	chr12:2220570..2222962-chr12:2225663..2228502,2	MCF-7	breast:
5	chr12:2220570..2222962-chr12:2225663..2228502,2	MCF-7	breast:
6	chr11:85960754..85963363-chr12:2217354..2219874,2	MCF-7	breast:
7	chr12:2254060..2256040-chr12:2258955..2261902,2	MCF-7	breast:
8	chr12:2248506..2250279-chr12:2263999..2266926,2	MCF-7	breast:
9	chr12:2253016..2255096-chr12:2269264..2272000,2	MCF-7	breast:

No data

Extended variants
information (count: 1516 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1516 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533209017	chr12:2219005-2219006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145466587	chr12:2219010-2219011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73603754	chr12:2219063-2219064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10848615	chr12:2219095-2219096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569639976	chr12:2219110-2219111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78657525	chr12:2219111-2219112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183901242	chr12:2219130-2219131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538784607	chr12:2219137-2219138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559079859	chr12:2219208-2219209	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567370454	chr12:2219209-2219210	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535280291	chr12:2219271-2219272	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555302300	chr12:2219274-2219275	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373164499	chr12:2219275-2219276	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575256207	chr12:2219300-2219301	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148835291	chr12:2219358-2219359	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117496487	chr12:2219487-2219488	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370694629	chr12:2219490-2219491	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560164115	chr12:2219514-2219515	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377116870	chr12:2219537-2219538	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576068202	chr12:2219549-2219550	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544801364	chr12:2219591-2219592	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529328062	chr12:2219601-2219602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527504212	chr12:2219663-2219664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547243174	chr12:2219691-2219692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552802752	chr12:2219697-2219698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188683588	chr12:2219701-2219702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143497533	chr12:2219724-2219725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541108495	chr12:2219739-2219740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549247169	chr12:2219740-2219741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74527467	chr12:2219807-2219808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181421521	chr12:2219837-2219838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569971875	chr12:2219861-2219862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539087768	chr12:2219863-2219864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552396310	chr12:2219867-2219868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566215488	chr12:2219912-2219913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375589833	chr12:2219951-2219952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73603756	chr12:2219953-2219954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577557652	chr12:2219955-2219956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187057822	chr12:2219959-2219960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538685395	chr12:2219982-2219983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560717254	chr12:2220003-2220004	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs537772588	chr12:2220007-2220008	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs2238030	chr12:2220015-2220016	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190207527	chr12:2220023-2220024	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs575964314	chr12:2220060-2220061	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs2238031	chr12:2220061-2220062	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558373209	chr12:2220076-2220077	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs374720514	chr12:2220093-2220094	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs758724	chr12:2220102-2220103	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs113328572	chr12:2220109-2220110	Weak transcription Enhancers Bivalent Enhancer	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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2202800-2220200	Weak transcription	Fetal Brain Female	brain
2	chr12:2207200-2223000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:2208400-2226600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:2211200-2221000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:2211600-2222200	Weak transcription	Spleen	Spleen
6	chr12:2211800-2229000	Weak transcription	Osteobl	bone
7	chr12:2214400-2219400	Weak transcription	Lung	lung
8	chr12:2214600-2221000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:2216800-2222600	Enhancers	Colon Smooth Muscle	Colon
10	chr12:2216800-2223600	Enhancers	Fetal Heart	heart
11	chr12:2216800-2224400	Enhancers	Left Ventricle	heart
12	chr12:2217200-2222400	Enhancers	Stomach Smooth Muscle	stomach
13	chr12:2217200-2224200	Enhancers	Right Ventricle	heart
14	chr12:2217400-2219800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:2217600-2219400	Weak transcription	Right Atrium	heart
16	chr12:2217800-2229600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:2218000-2221800	Weak transcription	Esophagus	oesophagus
18	chr12:2218200-2221200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:2218400-2219200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:2218400-2221400	Enhancers	Rectal Smooth Muscle	rectum
21	chr12:2218400-2222000	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:2218600-2219600	Weak transcription	Fetal Intestine Large	intestine
23	chr12:2218800-2219000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:2218800-2219000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:2218800-2219200	Enhancers	Aorta	Aorta
26	chr12:2219000-2234000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:2219200-2219400	Weak transcription	Aorta	Aorta
28	chr12:2219200-2219600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:2219400-2219600	Enhancers	Pancreas	Pancrea
30	chr12:2219400-2219800	Enhancers	Lung	lung
31	chr12:2219400-2220200	Enhancers	Fetal Brain Male	brain
32	chr12:2219400-2220800	Enhancers	Aorta	Aorta
33	chr12:2219400-2222000	Enhancers	Fetal Intestine Small	intestine
34	chr12:2219400-2223600	Enhancers	Right Atrium	heart
35	chr12:2219600-2221600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:2219600-2223600	Enhancers	Fetal Intestine Large	intestine
37	chr12:2219800-2220000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr12:2219800-2220600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr12:2219800-2221600	Weak transcription	Lung	lung
40	chr12:2219800-2222400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr12:2220000-2220200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:2220000-2220400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:2220000-2220800	Enhancers	Fetal Muscle Trunk	muscle
44	chr12:2220000-2221200	Enhancers	Fetal Muscle Leg	muscle
45	chr12:2220000-2221800	Bivalent Enhancer	Fetal Stomach	stomach
46	chr12:2220200-2220400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:2220200-2220400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr12:2220200-2220400	Enhancers	NHDF-Ad	bronchial
49	chr12:2220200-2220600	Enhancers	Fetal Brain Female	brain
50	chr12:2220200-2221000	Weak transcription	Fetal Brain Male	brain

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