Variant report

Variant	esv3445941
Chromosome Location	chr10:93641043-93641214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:93638059..93641672-chr10:93681049..93683589,4	MCF-7	breast:
2	chr10:93639808..93641411-chr10:93659591..93661958,2	MCF-7	breast:
3	chr10:93638107..93642679-chr10:93666717..93670620,8	MCF-7	breast:
4	chr10:93638890..93643512-chr10:93665882..93670219,9	MCF-7	breast:
5	chr10:93620389..93623626-chr10:93637886..93641413,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000095564	chromatin interactions
ENSG00000272817	chromatin interactions
ENSG00000174721	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 68 )

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	rs548010623	chr10:93641055-93641056	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs568147765	chr10:93641093-93641094	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs4933698	chr10:93641102-93641103	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs180686663	chr10:93641145-93641146	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs150264234	chr10:93641156-93641157	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs539754261	chr10:93641194-93641195	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs74149310	chr10:93641211-93641212	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573202795	chr10:93641214-93641215	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	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
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93608800-93643400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:93626200-93643000	Weak transcription	HSMMtube	muscle
3	chr10:93635000-93643200	Weak transcription	Right Atrium	heart
4	chr10:93639200-93641400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr10:93639200-93642200	Enhancers	Placenta	Placenta
6	chr10:93639400-93643200	Weak transcription	Brain Angular Gyrus	brain
7	chr10:93639800-93641200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:93639800-93643000	Weak transcription	Fetal Heart	heart
9	chr10:93639800-93643200	Weak transcription	Esophagus	oesophagus
10	chr10:93639800-93643400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:93640000-93643200	Weak transcription	Brain Anterior Caudate	brain
12	chr10:93640200-93641600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr10:93640200-93641600	Enhancers	Fetal Brain Female	brain
14	chr10:93640200-93643200	Weak transcription	Brain Hippocampus Middle	brain
15	chr10:93640200-93643200	Weak transcription	Stomach Mucosa	stomach
16	chr10:93640200-93643400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:93640400-93643000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr10:93640400-93643000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr10:93640400-93643000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr10:93640400-93643000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:93640400-93643000	Weak transcription	NHDF-Ad	bronchial
22	chr10:93640400-93643200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:93640400-93643200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr10:93640400-93643200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr10:93640400-93643400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:93640400-93643400	Weak transcription	Brain Substantia Nigra	brain
27	chr10:93640600-93641400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:93640600-93642800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:93640600-93643000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr10:93640600-93643000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr10:93640600-93643000	Weak transcription	Adipose Nuclei	Adipose
32	chr10:93640600-93643000	Weak transcription	Fetal Brain Male	brain
33	chr10:93640600-93643200	Weak transcription	Aorta	Aorta
34	chr10:93640600-93643200	Weak transcription	Brain Germinal Matrix	brain
35	chr10:93640600-93644800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:93640800-93641200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:93640800-93643000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr10:93640800-93643000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr10:93640800-93643400	Weak transcription	HMEC	breast
40	chr10:93641000-93641200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr10:93641000-93641400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr10:93641000-93643000	Weak transcription	NHEK	skin
43	chr10:93641000-93643400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:93641200-93641400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:93641200-93641400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr10:93641200-93643200	Weak transcription	Placenta Amnion	Placenta Amnion

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