Variant report

Variant	esv3440731
Chromosome Location	chr12:26187635-26189883
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	chr12:26186658..26189002-chr12:26189615..26191269,2	MCF-7	breast:
2	chr12:26186658..26189002-chr12:26189615..26191269,2	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561284785	chr12:26187708-26187709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57227138	chr12:26187719-26187720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369281257	chr12:26187771-26187772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202204357	chr12:26187780-26187781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557357669	chr12:26187798-26187799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74996456	chr12:26187799-26187800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540178758	chr12:26187827-26187828	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs77574904	chr12:26187832-26187833	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs115867379	chr12:26187896-26187897	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs201559766	chr12:26187903-26187904	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs540851278	chr12:26187965-26187966	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs188839283	chr12:26187969-26187970	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs181454541	chr12:26187977-26187978	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs551934217	chr12:26187992-26187993	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs17362614	chr12:26188008-26188009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115328693	chr12:26188027-26188028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532707069	chr12:26188045-26188046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111844153	chr12:26188097-26188098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545351478	chr12:26188167-26188168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111321731	chr12:26188252-26188253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113845266	chr12:26188253-26188254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564041370	chr12:26188258-26188259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112320844	chr12:26188321-26188322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200323471	chr12:26188332-26188333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142149716	chr12:26188337-26188338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375181918	chr12:26188344-26188345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs67251476	chr12:26188370-26188371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11048386	chr12:26188374-26188375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11048387	chr12:26188381-26188382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372060246	chr12:26188387-26188388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74210654	chr12:26188388-26188389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375085888	chr12:26188396-26188397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187598091	chr12:26188405-26188406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191930013	chr12:26188412-26188413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113533873	chr12:26188415-26188416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568338609	chr12:26188428-26188429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11048388	chr12:26188463-26188464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534003826	chr12:26188469-26188470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183026224	chr12:26188502-26188503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561713867	chr12:26188508-26188509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529414066	chr12:26188542-26188543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61914246	chr12:26188609-26188610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs569296468	chr12:26188617-26188618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539846563	chr12:26188690-26188691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149167958	chr12:26188700-26188701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57082706	chr12:26188702-26188703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs35785734	chr12:26188735-26188736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200101339	chr12:26188790-26188791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185762622	chr12:26188792-26188793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71435686	chr12:26188794-26188795	Weak transcription	n/a	n/a	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26171000-26190600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:26175000-26190600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:26175000-26191000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:26175200-26190800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:26175400-26190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:26180000-26188200	Enhancers	NHDF-Ad	bronchial
7	chr12:26180200-26188200	Enhancers	Brain Hippocampus Middle	brain
8	chr12:26180800-26188200	Enhancers	Brain Substantia Nigra	brain
9	chr12:26180800-26195000	Weak transcription	HSMM	muscle
10	chr12:26181000-26195200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:26182200-26190600	Weak transcription	Gastric	stomach
12	chr12:26182200-26195800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:26182600-26188200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:26182600-26189800	Weak transcription	Fetal Intestine Large	intestine
15	chr12:26183600-26187800	Weak transcription	Fetal Kidney	kidney
16	chr12:26183600-26188000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:26183600-26190600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:26184600-26188000	Enhancers	Osteobl	bone
19	chr12:26184800-26187800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:26185200-26188400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:26185600-26188200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:26185600-26188200	Enhancers	Hela-S3	cervix
23	chr12:26186000-26188200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:26186000-26189000	Weak transcription	Fetal Intestine Small	intestine
25	chr12:26186000-26200400	Weak transcription	Right Ventricle	heart
26	chr12:26186200-26189400	Weak transcription	Adipose Nuclei	Adipose
27	chr12:26186200-26190000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:26186200-26190000	Weak transcription	Ovary	ovary
29	chr12:26186200-26193400	Weak transcription	Fetal Lung	lung
30	chr12:26186200-26195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:26186400-26191000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:26186400-26191000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:26187000-26187800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:26187000-26190600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:26187000-26190600	Weak transcription	Brain Angular Gyrus	brain
36	chr12:26187000-26190800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:26187000-26193200	Weak transcription	Esophagus	oesophagus
38	chr12:26187200-26188000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:26187200-26189600	Weak transcription	Left Ventricle	heart
40	chr12:26187200-26190000	Weak transcription	Psoas Muscle	Psoas
41	chr12:26187200-26190600	Weak transcription	Pancreas	Pancrea
42	chr12:26187200-26190600	Weak transcription	Right Atrium	heart
43	chr12:26187200-26190800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:26187200-26190800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:26187200-26193200	Weak transcription	Lung	lung
46	chr12:26187200-26195800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:26187200-26196200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:26187200-26200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:26187400-26187800	Enhancers	HUVEC	blood vessel
50	chr12:26187400-26188000	Enhancers	Colon Smooth Muscle	Colon

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