Variant report

Variant	esv3497578
Chromosome Location	chr10:97207051-97208031
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551548645	chr10:97207058-97207059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571322315	chr10:97207097-97207098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533609200	chr10:97207143-97207144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73321260	chr10:97207152-97207153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560816412	chr10:97207169-97207170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550042384	chr10:97207228-97207229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558452448	chr10:97207249-97207250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368222290	chr10:97207268-97207269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142114184	chr10:97207270-97207271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535772529	chr10:97207330-97207331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555627138	chr10:97207336-97207337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150678312	chr10:97207352-97207353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552703530	chr10:97207373-97207374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568619730	chr10:97207379-97207380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184075302	chr10:97207440-97207441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557685991	chr10:97207485-97207486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs578056875	chr10:97207512-97207513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12416103	chr10:97207524-97207525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540878382	chr10:97207525-97207526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79125602	chr10:97207532-97207533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187736829	chr10:97207584-97207585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537596726	chr10:97207597-97207598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149859897	chr10:97207619-97207620	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs567753430	chr10:97207632-97207633	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs191499253	chr10:97207729-97207730	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs7095586	chr10:97207738-97207739	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs553805973	chr10:97207747-97207748	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs182172609	chr10:97207785-97207786	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs375240295	chr10:97207812-97207813	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs564689485	chr10:97207832-97207833	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs146869096	chr10:97207928-97207929	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs530037717	chr10:97207932-97207933	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs201012466	chr10:97208026-97208027	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs201835257	chr10:97208027-97208028	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Prostate cancer	16573809	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97171000-97208000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr10:97190200-97207200	Weak transcription	Colonic Mucosa	Colon
3	chr10:97190800-97208200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr10:97193400-97210800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:97193800-97208000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:97197600-97207400	Weak transcription	Brain Hippocampus Middle	brain
7	chr10:97197600-97207600	Weak transcription	Brain Germinal Matrix	brain
8	chr10:97198400-97207600	Weak transcription	Fetal Brain Female	brain
9	chr10:97200200-97208800	Enhancers	Colon Smooth Muscle	Colon
10	chr10:97201400-97207400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:97201600-97207400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:97202800-97209200	Enhancers	Fetal Muscle Leg	muscle
13	chr10:97203200-97208400	Enhancers	Liver	Liver
14	chr10:97203800-97209400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr10:97204000-97208600	Enhancers	Left Ventricle	heart
16	chr10:97204600-97208200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr10:97204600-97208200	Enhancers	Placenta	Placenta
18	chr10:97204600-97208200	Enhancers	Lung	lung
19	chr10:97204600-97208600	Enhancers	Adipose Nuclei	Adipose
20	chr10:97204600-97208600	Enhancers	Fetal Stomach	stomach
21	chr10:97204600-97208800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr10:97204800-97207400	Enhancers	Stomach Mucosa	stomach
23	chr10:97204800-97208200	Enhancers	Fetal Lung	lung
24	chr10:97204800-97208600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr10:97204800-97209200	Enhancers	Right Atrium	heart
26	chr10:97204800-97209200	Enhancers	Right Ventricle	heart
27	chr10:97205000-97208200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr10:97205200-97211000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr10:97205400-97208000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr10:97205600-97207400	Weak transcription	NHLF	lung
31	chr10:97205600-97207800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr10:97205600-97208200	Enhancers	HUVEC	blood vessel
33	chr10:97205600-97209000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr10:97205600-97210200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:97205800-97207600	Weak transcription	NH-A	brain
36	chr10:97205800-97208200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr10:97206000-97207400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:97206000-97207400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr10:97206000-97207400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:97206000-97207600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr10:97206000-97207600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:97206000-97207600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:97206000-97207600	Weak transcription	Brain Substantia Nigra	brain
44	chr10:97206000-97207800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr10:97206000-97207800	Weak transcription	HSMMtube	muscle
46	chr10:97206000-97208000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr10:97206000-97208800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr10:97206000-97210800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:97206000-97210800	Weak transcription	Brain Anterior Caudate	brain
50	chr10:97206000-97210800	Weak transcription	Fetal Brain Male	brain

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