Variant report

Variant	esv2587039
Chromosome Location	chr10:52920340-52921906
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	chr10:52912333..52914102-chr10:52919856..52922632,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185532	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186627159	chr10:52920342-52920343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567942830	chr10:52920364-52920365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191087926	chr10:52920408-52920409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552826885	chr10:52920483-52920484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143134755	chr10:52920502-52920503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374322329	chr10:52920503-52920504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs3898438	chr10:52920506-52920507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183277887	chr10:52920522-52920523	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187803745	chr10:52920555-52920556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs71459406	chr10:52920635-52920636	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs56352574	chr10:52920655-52920656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs72793261	chr10:52920656-52920657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113706651	chr10:52920669-52920670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs74131781	chr10:52920670-52920671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543001403	chr10:52920688-52920689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs78996561	chr10:52920743-52920744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192969858	chr10:52920747-52920748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185245297	chr10:52920826-52920827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187993931	chr10:52920850-52920851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192834665	chr10:52920858-52920859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111383513	chr10:52920877-52920878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545211311	chr10:52920878-52920879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565200449	chr10:52920905-52920906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs117022457	chr10:52920910-52920911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550970541	chr10:52920987-52920988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145546933	chr10:52920993-52920994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs79907010	chr10:52921001-52921002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183673333	chr10:52921030-52921031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs148451323	chr10:52921038-52921039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs547273174	chr10:52921068-52921069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs567153874	chr10:52921074-52921075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141754860	chr10:52921076-52921077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12257265	chr10:52921088-52921089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs9415746	chr10:52921102-52921103	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368212681	chr10:52921117-52921118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs207470893	chr10:52921138-52921139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs188046604	chr10:52921150-52921151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs79054209	chr10:52921161-52921162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs139622595	chr10:52921164-52921165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542220052	chr10:52921229-52921230	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs180767960	chr10:52921237-52921238	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573107800	chr10:52921247-52921248	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544859530	chr10:52921260-52921261	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs9415747	chr10:52921309-52921310	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs530905108	chr10:52921312-52921313	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572832688	chr10:52921374-52921375	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143120680	chr10:52921381-52921382	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs184828738	chr10:52921387-52921388	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375365939	chr10:52921388-52921389	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535237742	chr10:52921391-52921392	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164920	CNVD
Ollier disease	21235737	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52895200-52924000	Weak transcription	Fetal Stomach	stomach
2	chr10:52906000-52931200	Weak transcription	Fetal Muscle Leg	muscle
3	chr10:52908000-52929600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr10:52908400-52929600	Weak transcription	Aorta	Aorta
5	chr10:52910000-52931000	Weak transcription	Fetal Lung	lung
6	chr10:52910600-52942400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr10:52913000-52922000	Weak transcription	Right Ventricle	heart
8	chr10:52913200-52921800	Weak transcription	Colon Smooth Muscle	Colon
9	chr10:52917000-52921400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr10:52917200-52921600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr10:52917200-52921600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr10:52917200-52921600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:52917200-52921600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:52917200-52921800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr10:52917400-52929000	Weak transcription	NHDF-Ad	bronchial
16	chr10:52919400-52921800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr10:52921200-52922200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:52921400-52922400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr10:52921400-52922400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr10:52921400-52922600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr10:52921600-52922000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:52921600-52922000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr10:52921600-52922200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:52921600-52922200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr10:52921600-52922200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr10:52921600-52923000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr10:52921800-52922000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr10:52921800-52922000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:52921800-52922000	Enhancers	Colon Smooth Muscle	Colon
30	chr10:52921800-52922000	Enhancers	Fetal Muscle Trunk	muscle
31	chr10:52921800-52922000	Enhancers	Left Ventricle	heart
32	chr10:52921800-52922200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr10:52921800-52922200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr10:52921800-52922200	Enhancers	HUES64 Cell Line	embryonic stem cell

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