Variant report

Variant	esv1696845
Chromosome Location	chr10:52160173-52160213
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52153243..52155406-chr10:52158716..52160773,2	K562	blood:
2	chr10:52158173..52160799-chr10:52163076..52165080,2	MCF-7	breast:
3	chr10:52156579..52161749-chr10:52162901..52167145,5	K562	blood:
4	chr10:52150477..52153075-chr10:52158420..52160955,2	K562	blood:
5	chr10:52154508..52157227-chr10:52160159..52164764,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269700	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs398013407	chr10:52160174-52160175	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375022896	chr10:52160176-52160177	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs58569852	chr10:52160194-52160195	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs58889187	chr10:52160200-52160201	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs56312109	chr10:52160202-52160203	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs11005538	chr10:52160204-52160205	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs11005539	chr10:52160208-52160209	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10524155	chr10:52160213-52160214	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Renal cell carcinoma	18765545	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

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52142600-52170200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr10:52145800-52163400	Weak transcription	Fetal Kidney	kidney
3	chr10:52147000-52176600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:52148600-52165800	Weak transcription	Primary B cells from cord blood	blood
5	chr10:52152400-52167600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr10:52155000-52162600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr10:52155400-52165800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:52155800-52165800	Weak transcription	Primary T cells from cord blood	blood
9	chr10:52156200-52164200	Weak transcription	Brain Anterior Caudate	brain
10	chr10:52156200-52165800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:52156200-52170200	Weak transcription	Pancreas	Pancrea
12	chr10:52156600-52165800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr10:52157000-52170800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr10:52157200-52162600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:52157200-52163400	Weak transcription	Brain Hippocampus Middle	brain
16	chr10:52157200-52164000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:52157200-52170000	Weak transcription	Gastric	stomach
18	chr10:52157200-52177600	Weak transcription	Spleen	Spleen
19	chr10:52157400-52164000	Weak transcription	Left Ventricle	heart
20	chr10:52157400-52165400	Weak transcription	HMEC	breast
21	chr10:52157400-52167200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:52157400-52167200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:52157400-52170000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:52157600-52160600	Weak transcription	A549	lung
25	chr10:52157600-52162600	Weak transcription	HepG2	liver
26	chr10:52157600-52165400	Weak transcription	NHEK	skin
27	chr10:52157800-52160600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr10:52157800-52162000	Weak transcription	NHLF	lung
29	chr10:52157800-52162600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:52157800-52163200	Weak transcription	Brain Angular Gyrus	brain
31	chr10:52157800-52164000	Weak transcription	Placenta	Placenta
32	chr10:52157800-52164200	Weak transcription	Psoas Muscle	Psoas
33	chr10:52157800-52166000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr10:52157800-52167400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr10:52157800-52168800	Weak transcription	NHDF-Ad	bronchial
36	chr10:52157800-52169200	Weak transcription	HSMM	muscle
37	chr10:52157800-52172000	Weak transcription	Fetal Lung	lung
38	chr10:52157800-52173200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr10:52157800-52175400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr10:52157800-52176800	Weak transcription	Lung	lung
41	chr10:52158000-52160400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr10:52158400-52163800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr10:52158400-52164200	Weak transcription	Adipose Nuclei	Adipose
44	chr10:52158400-52166000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr10:52158600-52160400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr10:52158800-52160400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:52158800-52160600	Weak transcription	Hela-S3	cervix
48	chr10:52158800-52161800	Weak transcription	Brain Substantia Nigra	brain
49	chr10:52158800-52169400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr10:52158800-52172200	Weak transcription	Brain Inferior Temporal Lobe	brain

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