Variant report

Variant	esv3329434
Chromosome Location	chr10:52075756-52076015
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	chr10:52075208..52077138-chr10:52380386..52382972,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544112999	chr10:52075766-52075767	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs572454007	chr10:52075799-52075800	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs34696945	chr10:52075804-52075805	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs368915134	chr10:52075828-52075829	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs73330909	chr10:52075832-52075833	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532563501	chr10:52075873-52075874	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs545835142	chr10:52075906-52075907	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs74131277	chr10:52075914-52075915	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145038727	chr10:52075924-52075925	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs1436210	chr10:52075928-52075929	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs78816510	chr10:52075930-52075931	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs148688974	chr10:52075959-52075960	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs563877964	chr10:52075969-52075970	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Autism	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52061400-52080400	Weak transcription	Psoas Muscle	Psoas
2	chr10:52063200-52076600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:52065000-52081600	Weak transcription	Stomach Mucosa	stomach
4	chr10:52065200-52076800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:52065400-52077000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr10:52067400-52093600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr10:52068200-52080400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:52069200-52076400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr10:52069400-52075800	Weak transcription	Fetal Brain Female	brain
10	chr10:52070000-52081400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:52071000-52081400	Weak transcription	NH-A	brain
12	chr10:52071000-52083600	Weak transcription	Primary B cells from cord blood	blood
13	chr10:52071000-52084200	Weak transcription	Spleen	Spleen
14	chr10:52071000-52084800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr10:52071000-52085000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr10:52071000-52085200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:52071000-52085400	Weak transcription	Pancreas	Pancrea
18	chr10:52071000-52085800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr10:52071000-52102400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr10:52071000-52102600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr10:52071200-52076000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr10:52071200-52076000	Weak transcription	Gastric	stomach
23	chr10:52071200-52076000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr10:52071200-52077000	Weak transcription	HSMM	muscle
25	chr10:52071200-52079800	Weak transcription	Lung	lung
26	chr10:52071200-52081000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr10:52071200-52083000	Weak transcription	Hela-S3	cervix
28	chr10:52071200-52083800	Weak transcription	Placenta	Placenta
29	chr10:52071200-52084200	Weak transcription	HSMMtube	muscle
30	chr10:52071200-52084600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:52071200-52085400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:52071200-52085400	Weak transcription	A549	lung
33	chr10:52071200-52086600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr10:52071200-52091800	Weak transcription	Fetal Intestine Small	intestine
35	chr10:52071200-52093400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr10:52071200-52093800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr10:52071200-52094000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr10:52071200-52094200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr10:52071200-52095800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr10:52071200-52103000	Weak transcription	Fetal Intestine Large	intestine
41	chr10:52071200-52103200	Weak transcription	Thymus	Thymus
42	chr10:52071200-52103400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:52071200-52103400	Weak transcription	Esophagus	oesophagus
44	chr10:52071400-52080200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr10:52071600-52086600	Weak transcription	Fetal Kidney	kidney
46	chr10:52072200-52083400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:52072800-52081600	Weak transcription	Fetal Muscle Leg	muscle
48	chr10:52073000-52075800	Weak transcription	Aorta	Aorta
49	chr10:52073000-52076000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr10:52073000-52076200	Weak transcription	Primary monocytes fromperipheralblood	blood

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