Variant report

Variant	esv3428385
Chromosome Location	chr10:97221807-97222295
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	chr10:97220624..97225860-chr10:97227541..97231131,6	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543582833	chr10:97221826-97221827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372805230	chr10:97221831-97221832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542271939	chr10:97221851-97221852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34433135	chr10:97221857-97221858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs525238	chr10:97221866-97221867	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185269790	chr10:97221970-97221971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545070322	chr10:97221989-97221990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549062	chr10:97222023-97222024	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs533345422	chr10:97222039-97222040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371887870	chr10:97222099-97222100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546742483	chr10:97222119-97222120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534213393	chr10:97222144-97222145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566832041	chr10:97222168-97222169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573701296	chr10:97222206-97222207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529557505	chr10:97222276-97222277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97213200-97234200	Weak transcription	Colonic Mucosa	Colon
2	chr10:97216000-97223000	Weak transcription	Pancreas	Pancrea
3	chr10:97216000-97226800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:97216000-97228200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr10:97217600-97223000	Weak transcription	Placenta	Placenta
6	chr10:97217600-97223000	Weak transcription	Gastric	stomach
7	chr10:97218000-97229600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr10:97218200-97222000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr10:97219000-97222000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr10:97219000-97223200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr10:97219200-97223000	Weak transcription	Lung	lung
12	chr10:97219600-97223000	Weak transcription	HSMMtube	muscle
13	chr10:97219600-97223200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr10:97219600-97224200	Weak transcription	Stomach Mucosa	stomach
15	chr10:97219600-97225800	Weak transcription	Brain Germinal Matrix	brain
16	chr10:97219800-97222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:97219800-97222200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr10:97219800-97222400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr10:97219800-97222400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:97219800-97222600	Weak transcription	Brain Angular Gyrus	brain
21	chr10:97219800-97222600	Weak transcription	Brain Substantia Nigra	brain
22	chr10:97219800-97222600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr10:97219800-97222800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:97219800-97222800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:97219800-97222800	Weak transcription	Ovary	ovary
26	chr10:97219800-97223000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:97219800-97223400	Weak transcription	Fetal Intestine Large	intestine
28	chr10:97219800-97223400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr10:97219800-97223600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr10:97219800-97224400	Weak transcription	Fetal Intestine Small	intestine
31	chr10:97219800-97229600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:97220000-97222400	Weak transcription	Right Ventricle	heart
33	chr10:97220000-97222400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr10:97220000-97222600	Weak transcription	Fetal Muscle Leg	muscle
35	chr10:97220000-97222600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr10:97220000-97222800	Enhancers	Fetal Brain Male	brain
37	chr10:97220000-97223000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr10:97220000-97224200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr10:97220400-97222800	Weak transcription	Left Ventricle	heart
40	chr10:97220400-97222800	Weak transcription	Right Atrium	heart
41	chr10:97220400-97223400	Weak transcription	Psoas Muscle	Psoas
42	chr10:97220400-97223600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr10:97220600-97222800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr10:97220600-97232000	Enhancers	Fetal Heart	heart
45	chr10:97220800-97222600	Enhancers	Colon Smooth Muscle	Colon
46	chr10:97220800-97225000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr10:97220800-97225000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr10:97221200-97222400	Weak transcription	HepG2	liver
49	chr10:97221200-97222800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr10:97221200-97223000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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