Variant report

Variant	nsv557036
Chromosome Location	chr12:2227311-2268143
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:2166299..2167006-chr12:2226935..2227452,2	MCF-7	breast:
2	chr12:2254060..2256040-chr12:2258955..2261902,2	MCF-7	breast:
3	chr12:2248506..2250279-chr12:2263999..2266926,2	MCF-7	breast:
4	chr12:2220570..2222962-chr12:2225663..2228502,2	MCF-7	breast:
5	chr12:2256847..2258377-chr12:2264743..2267283,2	MCF-7	breast:
6	chr12:2248506..2250279-chr12:2263999..2266926,2	MCF-7	breast:
7	chr12:2256847..2258377-chr12:2264743..2267283,2	MCF-7	breast:
8	chr12:2263653..2265744-chr12:2266378..2267994,2	MCF-7	breast:
9	chr12:2254060..2256040-chr12:2258955..2261902,2	MCF-7	breast:
10	chr12:2260941..2263160-chr12:2265982..2267812,2	MCF-7	breast:
11	chr12:2263653..2265744-chr12:2266378..2267994,2	MCF-7	breast:
12	chr12:2253016..2255096-chr12:2269264..2272000,2	MCF-7	breast:
13	chr12:2260941..2263160-chr12:2265982..2267812,2	MCF-7	breast:

No data

Extended variants
information (count: 1503 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1503 , 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	rs4126711	chr12:2227311-2227312	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs111520377	chr12:2227342-2227343	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75384437	chr12:2227345-2227346	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139025532	chr12:2227428-2227429	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143055109	chr12:2227464-2227465	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376532623	chr12:2227491-2227492	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371025838	chr12:2227519-2227520	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557217529	chr12:2227526-2227527	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577104318	chr12:2227542-2227543	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546204635	chr12:2227570-2227571	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147056970	chr12:2227571-2227572	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113685952	chr12:2227572-2227573	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113085099	chr12:2227599-2227600	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562103830	chr12:2227611-2227612	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562622364	chr12:2227617-2227618	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116643594	chr12:2227627-2227628	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138426214	chr12:2227699-2227700	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141928642	chr12:2227712-2227713	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190054600	chr12:2227721-2227722	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529707102	chr12:2227742-2227743	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547838863	chr12:2227743-2227744	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111905643	chr12:2227763-2227764	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181400285	chr12:2227875-2227876	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7314367	chr12:2227929-2227930	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs548269212	chr12:2227937-2227938	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186510514	chr12:2227945-2227946	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191827899	chr12:2227946-2227947	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556910978	chr12:2227948-2227949	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115313961	chr12:2227952-2227953	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183577753	chr12:2227956-2227957	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553369210	chr12:2227957-2227958	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61909075	chr12:2227967-2227968	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61909076	chr12:2228012-2228013	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573285754	chr12:2228024-2228025	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187614727	chr12:2228047-2228048	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34052835	chr12:2228085-2228086	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111741087	chr12:2228205-2228206	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575692512	chr12:2228208-2228209	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544767375	chr12:2228209-2228210	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2239130	chr12:2228210-2228211	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs533410748	chr12:2228213-2228214	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540534033	chr12:2228223-2228224	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558874543	chr12:2228312-2228313	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528073316	chr12:2228321-2228322	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547916759	chr12:2228322-2228323	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114253622	chr12:2228342-2228343	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530549121	chr12:2228382-2228383	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550725016	chr12:2228443-2228444	Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190984133	chr12:2228472-2228473	Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149432660	chr12:2228479-2228480	Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:638 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2211800-2229000	Weak transcription	Osteobl	bone
2	chr12:2217800-2229600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:2219000-2234000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:2220400-2228400	Weak transcription	NHDF-Ad	bronchial
5	chr12:2220600-2228400	Weak transcription	Ovary	ovary
6	chr12:2220800-2235400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:2221000-2229000	Weak transcription	Brain Germinal Matrix	brain
8	chr12:2221200-2228200	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:2221600-2227400	Weak transcription	Fetal Lung	lung
10	chr12:2221800-2229600	Weak transcription	Fetal Brain Male	brain
11	chr12:2222000-2231200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:2222000-2235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:2222400-2239000	Weak transcription	Brain Anterior Caudate	brain
14	chr12:2222800-2236000	Weak transcription	Lung	lung
15	chr12:2223000-2229000	Weak transcription	Esophagus	oesophagus
16	chr12:2223200-2250200	Weak transcription	Brain Substantia Nigra	brain
17	chr12:2223400-2228400	Weak transcription	NHLF	lung
18	chr12:2223400-2229600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:2223400-2234000	Weak transcription	Spleen	Spleen
20	chr12:2223600-2227600	Weak transcription	Aorta	Aorta
21	chr12:2223600-2238200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:2224400-2231000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:2224600-2227600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:2224600-2228400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:2224600-2231200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:2225000-2228800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:2225000-2229000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:2225400-2227600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:2225400-2227600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:2225400-2233800	Weak transcription	Fetal Brain Female	brain
31	chr12:2226200-2228000	Genic enhancers	Colon Smooth Muscle	Colon
32	chr12:2226200-2228600	Genic enhancers	Stomach Smooth Muscle	stomach
33	chr12:2226200-2229000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr12:2226600-2227600	Strong transcription	Fetal Intestine Small	intestine
35	chr12:2226600-2228000	Strong transcription	Brain Angular Gyrus	brain
36	chr12:2226600-2228000	Genic enhancers	Fetal Stomach	stomach
37	chr12:2226800-2228000	Genic enhancers	Fetal Heart	heart
38	chr12:2226800-2231200	Enhancers	Rectal Smooth Muscle	rectum
39	chr12:2227000-2228800	Enhancers	Right Atrium	heart
40	chr12:2227200-2228600	Enhancers	Right Ventricle	heart
41	chr12:2227200-2229600	Enhancers	Left Ventricle	heart
42	chr12:2227400-2227600	Weak transcription	Fetal Kidney	kidney
43	chr12:2227400-2231600	Enhancers	Fetal Lung	lung
44	chr12:2227600-2227800	Enhancers	Colonic Mucosa	Colon
45	chr12:2227600-2227800	Enhancers	Fetal Kidney	kidney
46	chr12:2227600-2228000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:2227600-2228000	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr12:2227600-2228200	Weak transcription	Fetal Intestine Small	intestine
49	chr12:2227600-2229000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:2227600-2230600	Enhancers	Aorta	Aorta

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