Variant report

Variant	esv1314047
Chromosome Location	chr10:94405725-94405726
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	chr10:94351775..94355250-chr10:94403169..94406867,3	K562	blood:

Variant related genes	Relation type
ENSG00000138160	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 70 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs33915127	chr10:94405726-94405727	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94354000-94420000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:94354200-94416000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:94363600-94410200	Weak transcription	Fetal Kidney	kidney
4	chr10:94364000-94416400	Strong transcription	Dnd41	blood
5	chr10:94364200-94417400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr10:94364400-94415200	Weak transcription	Fetal Heart	heart
7	chr10:94365600-94415600	Strong transcription	Fetal Thymus	thymus
8	chr10:94366000-94409600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr10:94367200-94411400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr10:94371000-94408600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr10:94371000-94414600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:94371000-94417000	Weak transcription	Primary B cells from cord blood	blood
13	chr10:94371800-94408800	Weak transcription	Fetal Brain Female	brain
14	chr10:94374800-94410400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr10:94374800-94416000	Weak transcription	Placenta	Placenta
16	chr10:94374800-94418600	Weak transcription	Brain Germinal Matrix	brain
17	chr10:94383000-94414600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr10:94384000-94414200	Weak transcription	Primary T cells from cord blood	blood
19	chr10:94384000-94416400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:94389000-94416400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:94391400-94415000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr10:94391400-94415400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr10:94391400-94415400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr10:94391400-94415400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr10:94391400-94415400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:94391400-94415800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr10:94392000-94415400	Weak transcription	Small Intestine	intestine
28	chr10:94392400-94406600	Weak transcription	NH-A	brain
29	chr10:94395000-94414800	Weak transcription	Fetal Brain Male	brain
30	chr10:94395400-94411400	Weak transcription	Fetal Intestine Large	intestine
31	chr10:94396200-94412200	Weak transcription	Fetal Muscle Leg	muscle
32	chr10:94396400-94412600	Weak transcription	Liver	Liver
33	chr10:94396400-94418200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:94398400-94421200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr10:94399000-94407200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:94399400-94410600	Weak transcription	Fetal Stomach	stomach
37	chr10:94400000-94406600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr10:94400200-94416800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr10:94400800-94407200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr10:94400800-94410800	Weak transcription	Fetal Intestine Small	intestine
41	chr10:94400800-94411000	Weak transcription	Thymus	Thymus
42	chr10:94401000-94406000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:94401200-94409600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr10:94402200-94406200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr10:94402200-94407000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr10:94402400-94407000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr10:94402400-94407000	Weak transcription	Fetal Lung	lung
48	chr10:94402600-94406200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr10:94403600-94415600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr10:94403600-94416200	Strong transcription	GM12878-XiMat	blood

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