Variant report

Variant	esv3407691
Chromosome Location	chr10:97262714-97263179
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	chr10:97234291..97235881-chr10:97262986..97265815,2	K562	blood:
2	chr10:97262883..97265174-chr10:97289179..97291481,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201793009	chr10:97262742-97262743	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs202003127	chr10:97262751-97262752	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371694168	chr10:97262755-97262756	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs59879351	chr10:97262756-97262757	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs71799146	chr10:97262762-97262763	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs10671261	chr10:97262763-97262764	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs397949446	chr10:97262772-97262773	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs61868709	chr10:97262773-97262774	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs539059622	chr10:97262814-97262815	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144255195	chr10:97262978-97262979	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34597764	chr10:97262994-97262995	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189578906	chr10:97263001-97263002	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182033079	chr10:97263037-97263038	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527777707	chr10:97263039-97263040	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574701319	chr10:97263044-97263045	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113922123	chr10:97263067-97263068	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563436693	chr10:97263083-97263084	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532677918	chr10:97263108-97263109	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552271388	chr10:97263115-97263116	Weak transcription Enhancers Genic enhancers	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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97245400-97264600	Weak transcription	Ovary	ovary
2	chr10:97249800-97274000	Weak transcription	Spleen	Spleen
3	chr10:97251200-97268200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:97254000-97265000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:97256800-97273200	Weak transcription	HSMM	muscle
6	chr10:97257400-97264800	Weak transcription	Placenta	Placenta
7	chr10:97257600-97268000	Weak transcription	HSMMtube	muscle
8	chr10:97258200-97264600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr10:97259200-97263000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr10:97259200-97267200	Enhancers	Liver	Liver
11	chr10:97259400-97266400	Enhancers	Brain Angular Gyrus	brain
12	chr10:97259400-97269600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:97259600-97262800	Enhancers	Pancreas	Pancrea
14	chr10:97259600-97265400	Enhancers	Brain Cingulate Gyrus	brain
15	chr10:97259600-97265400	Enhancers	Brain Hippocampus Middle	brain
16	chr10:97259800-97264200	Enhancers	Psoas Muscle	Psoas
17	chr10:97260000-97263600	Enhancers	Fetal Muscle Leg	muscle
18	chr10:97260000-97265400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr10:97260000-97269000	Enhancers	Left Ventricle	heart
20	chr10:97260000-97272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:97260000-97278400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:97260200-97264600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:97260200-97264600	Weak transcription	HUVEC	blood vessel
24	chr10:97260400-97268200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:97260600-97263800	Enhancers	K562	blood
26	chr10:97260600-97265000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr10:97260600-97265400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr10:97260600-97266200	Enhancers	Right Atrium	heart
29	chr10:97260800-97268000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr10:97260800-97269400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr10:97260800-97272800	Weak transcription	Esophagus	oesophagus
32	chr10:97261000-97262800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:97261000-97263000	Enhancers	Fetal Brain Male	brain
34	chr10:97261000-97264400	Enhancers	Fetal Intestine Large	intestine
35	chr10:97261000-97266600	Enhancers	Stomach Mucosa	stomach
36	chr10:97261000-97268000	Enhancers	Fetal Heart	heart
37	chr10:97261200-97262800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr10:97261200-97262800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr10:97261200-97263000	Enhancers	Fetal Brain Female	brain
40	chr10:97261200-97264600	Enhancers	Brain Substantia Nigra	brain
41	chr10:97261200-97268000	Enhancers	Rectal Smooth Muscle	rectum
42	chr10:97261200-97268600	Enhancers	Colon Smooth Muscle	Colon
43	chr10:97261400-97262800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr10:97261400-97264000	Enhancers	Fetal Intestine Small	intestine
45	chr10:97261400-97264600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:97261400-97264600	Enhancers	Right Ventricle	heart
47	chr10:97261400-97265000	Enhancers	Aorta	Aorta
48	chr10:97261600-97262800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr10:97261600-97263800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:97261600-97265200	Enhancers	Gastric	stomach

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