Variant report

Variant	nsv433521
Chromosome Location	chr12:26127230-26132785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:26119397..26121989-chr12:26127514..26129240,2	MCF-7	breast:
2	chr12:26108836..26112964-chr12:26130309..26134148,4	MCF-7	breast:
3	chr12:26125186..26126753-chr12:26127766..26129888,2	K562	blood:
4	chr12:26111468..26113195-chr12:26128307..26131046,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123094	chromatin interactions
ENSG00000246695	chromatin interactions

Extended variants
information (count: 212 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2048608	chr12:26127230-26127231	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546048748	chr12:26127285-26127286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16929800	chr12:26127321-26127322	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553594491	chr12:26127334-26127335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186738163	chr12:26127399-26127400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199896729	chr12:26127429-26127430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146188102	chr12:26127431-26127432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535891410	chr12:26127432-26127433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544317790	chr12:26127444-26127445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191403813	chr12:26127452-26127453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184296403	chr12:26127460-26127461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543291281	chr12:26127515-26127516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565160530	chr12:26127546-26127547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576981845	chr12:26127596-26127597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73077116	chr12:26127663-26127664	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs533167981	chr12:26127716-26127717	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs557989988	chr12:26127740-26127741	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs559597250	chr12:26127794-26127795	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530205953	chr12:26127867-26127868	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190006336	chr12:26127977-26127978	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563649872	chr12:26127980-26127981	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544855046	chr12:26128019-26128020	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530896435	chr12:26128025-26128026	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552609397	chr12:26128027-26128028	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563820399	chr12:26128032-26128033	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs138794978	chr12:26128048-26128049	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs140496343	chr12:26128083-26128084	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs4963947	chr12:26128133-26128134	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs565477873	chr12:26128141-26128142	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549459782	chr12:26128172-26128173	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs192700261	chr12:26128182-26128183	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554171998	chr12:26128203-26128204	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565872302	chr12:26128251-26128252	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563270893	chr12:26128258-26128259	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs145653726	chr12:26128274-26128275	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537017190	chr12:26128318-26128319	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs138478694	chr12:26128351-26128352	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs59392234	chr12:26128379-26128380	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149650976	chr12:26128386-26128387	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs144317037	chr12:26128404-26128405	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs148351389	chr12:26128430-26128431	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs7964657	chr12:26128447-26128448	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141188282	chr12:26128473-26128474	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs74072278	chr12:26128528-26128529	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs528010480	chr12:26128536-26128537	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs376195714	chr12:26128695-26128696	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs185300016	chr12:26128701-26128702	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs706534	chr12:26128724-26128725	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188915817	chr12:26128767-26128768	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs546912679	chr12:26128790-26128791	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Breast cancer	17133270	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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26113400-26128800	Weak transcription	HSMM	muscle
2	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
3	chr12:26115000-26127800	Weak transcription	Fetal Kidney	kidney
4	chr12:26117200-26130200	Weak transcription	Fetal Heart	heart
5	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
6	chr12:26118400-26131600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:26119600-26130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:26120000-26127400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:26121000-26131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:26121200-26129600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:26122400-26128200	Enhancers	Osteobl	bone
12	chr12:26123400-26129400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:26123800-26128800	Weak transcription	Spleen	Spleen
14	chr12:26123800-26129000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:26123800-26129200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:26123800-26134000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:26123800-26134200	Weak transcription	Gastric	stomach
18	chr12:26123800-26137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:26124200-26129400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:26124400-26128800	Weak transcription	Esophagus	oesophagus
21	chr12:26124400-26128800	Enhancers	NHDF-Ad	bronchial
22	chr12:26124400-26138000	Weak transcription	Fetal Intestine Large	intestine
23	chr12:26124800-26127600	Weak transcription	HUVEC	blood vessel
24	chr12:26124800-26129200	Enhancers	Colon Smooth Muscle	Colon
25	chr12:26124800-26130800	Weak transcription	Fetal Lung	lung
26	chr12:26125000-26128600	Weak transcription	Adipose Nuclei	Adipose
27	chr12:26125000-26129000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:26125000-26130800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:26125000-26138600	Weak transcription	Pancreas	Pancrea
30	chr12:26125200-26128000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:26125800-26129000	Enhancers	Brain Hippocampus Middle	brain
32	chr12:26125800-26129600	Enhancers	Right Atrium	heart
33	chr12:26126000-26127600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:26126200-26127400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:26126200-26127800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr12:26126200-26128000	Weak transcription	NH-A	brain
37	chr12:26126200-26128200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:26126400-26127400	Enhancers	Psoas Muscle	Psoas
39	chr12:26126400-26128200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:26126400-26129200	Weak transcription	NHLF	lung
41	chr12:26126400-26132200	Weak transcription	HMEC	breast
42	chr12:26126600-26127600	Weak transcription	Brain Anterior Caudate	brain
43	chr12:26126600-26127600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:26126600-26128800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:26126600-26129000	Enhancers	Stomach Smooth Muscle	stomach
46	chr12:26126800-26127600	Weak transcription	Right Ventricle	heart
47	chr12:26126800-26127800	Weak transcription	Brain Substantia Nigra	brain
48	chr12:26126800-26128000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:26126800-26128600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:26126800-26128600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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