Variant report

Variant	esv2100770
Chromosome Location	chr10:91499071-91499499
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	chr10:91497221..91499554-chr10:91503985..91505731,2	K562	blood:
2	chr10:91460924..91463347-chr10:91499221..91501471,2	K562	blood:

Variant related genes	Relation type
ENSG00000138182	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547649409	chr10:91499075-91499076	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149196073	chr10:91499128-91499129	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377324728	chr10:91499146-91499147	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535103147	chr10:91499149-91499150	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143064914	chr10:91499185-91499186	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193077307	chr10:91499231-91499232	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537970182	chr10:91499241-91499242	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557912143	chr10:91499248-91499249	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149500339	chr10:91499257-91499258	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372936934	chr10:91499258-91499259	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566649811	chr10:91499259-91499260	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs143193811	chr10:91499310-91499311	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533707230	chr10:91499312-91499313	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs184834393	chr10:91499341-91499342	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116754982	chr10:91499351-91499352	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370816297	chr10:91499356-91499357	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548907198	chr10:91499387-91499388	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369393649	chr10:91499418-91499419	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs386372058	chr10:91499431-91499432	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs60749697	chr10:91499433-91499434	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573923418	chr10:91499441-91499442	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	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
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	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
Sezary syndrome	18413736	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91461600-91546600	Weak transcription	Small Intestine	intestine
2	chr10:91461800-91505800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:91462000-91505800	Weak transcription	Left Ventricle	heart
4	chr10:91462200-91505600	Weak transcription	Esophagus	oesophagus
5	chr10:91462200-91505800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:91462200-91505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:91462200-91505800	Weak transcription	Gastric	stomach
8	chr10:91462200-91505800	Weak transcription	Lung	lung
9	chr10:91462400-91505600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr10:91463400-91505600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr10:91463400-91505800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:91463400-91521600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr10:91465800-91505600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr10:91466600-91506800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr10:91467200-91505600	Weak transcription	Fetal Brain Female	brain
16	chr10:91467600-91538400	Weak transcription	Fetal Heart	heart
17	chr10:91467800-91507200	Weak transcription	Fetal Brain Male	brain
18	chr10:91468800-91506600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr10:91469200-91505000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:91469600-91523600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:91470000-91503800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:91470200-91505800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:91472600-91530200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr10:91473600-91505600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr10:91473800-91505800	Weak transcription	Liver	Liver
26	chr10:91474600-91530200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr10:91476000-91505400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr10:91476000-91522400	Weak transcription	Placenta	Placenta
29	chr10:91476400-91508000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr10:91476800-91505600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr10:91478400-91524200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr10:91478400-91542400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr10:91479200-91505600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr10:91479600-91505000	Weak transcription	Fetal Intestine Large	intestine
35	chr10:91479600-91510200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:91479600-91522400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr10:91480800-91542200	Weak transcription	Fetal Kidney	kidney
38	chr10:91483200-91523600	Weak transcription	Brain Hippocampus Middle	brain
39	chr10:91484600-91500400	Weak transcription	Thymus	Thymus
40	chr10:91484600-91505600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:91484800-91505600	Weak transcription	Ovary	ovary
42	chr10:91485000-91532600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr10:91486400-91503400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr10:91487000-91504800	Weak transcription	NHEK	skin
45	chr10:91487200-91500000	Weak transcription	Fetal Muscle Leg	muscle
46	chr10:91487200-91505400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr10:91487400-91500200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr10:91487400-91505600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr10:91487400-91505600	Weak transcription	Brain Germinal Matrix	brain
50	chr10:91487600-91505800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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