Variant report

Variant	esv3336522
Chromosome Location	chr10:116310912-116312672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:116310031..116311847-chr10:116382346..116385171,2	MCF-7	breast:
2	chr10:116309046..116312030-chr10:116580790..116583146,2	MCF-7	breast:
3	chr10:116310139..116311162-chr10:116454196..116455210,3	K562	blood:
4	chr10:116229710..116232429-chr10:116312044..116314451,2	MCF-7	breast:
5	chr10:116308927..116312101-chr10:116579635..116582119,3	MCF-7	breast:
6	chr10:116310216..116311064-chr10:116454596..116455099,2	MCF-7	breast:
7	chr10:116310194..116311025-chr10:116463074..116463657,3	MCF-7	breast:
8	chr10:116310252..116311787-chr10:116463124..116463956,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151553	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558751741	chr10:116310918-116310919	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs569058637	chr10:116310923-116310924	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149104007	chr10:116310932-116310933	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541395766	chr10:116310972-116310973	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116821061	chr10:116311008-116311009	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs144802453	chr10:116311049-116311050	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375710862	chr10:116311085-116311086	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542477176	chr10:116311167-116311168	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563885982	chr10:116311202-116311203	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191603273	chr10:116311222-116311223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138655863	chr10:116311229-116311230	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191553854	chr10:116311313-116311314	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545900106	chr10:116311378-116311379	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577387697	chr10:116311382-116311383	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2497724	chr10:116311390-116311391	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528081712	chr10:116311443-116311444	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs559002004	chr10:116311450-116311451	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546186942	chr10:116311468-116311469	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561690214	chr10:116311485-116311486	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544783078	chr10:116311487-116311488	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4144581	chr10:116311489-116311490	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs986212	chr10:116311531-116311532	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs142080223	chr10:116311532-116311533	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183383313	chr10:116311543-116311544	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34323111	chr10:116311621-116311622	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4144582	chr10:116311624-116311625	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs369745597	chr10:116311629-116311630	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553132154	chr10:116311643-116311644	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12254038	chr10:116311648-116311649	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563475177	chr10:116311652-116311653	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570810792	chr10:116311735-116311736	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs187229026	chr10:116311786-116311787	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs553393356	chr10:116311842-116311843	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs575239848	chr10:116311888-116311889	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536178580	chr10:116311920-116311921	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557336121	chr10:116311928-116311929	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs10749169	chr10:116311938-116311939	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs546035867	chr10:116311942-116311943	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564256802	chr10:116311985-116311986	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs192105989	chr10:116312042-116312043	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562549597	chr10:116312048-116312049	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs10749170	chr10:116312110-116312111	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs2483532	chr10:116312139-116312140	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528829581	chr10:116312155-116312156	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs183143630	chr10:116312156-116312157	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs148100853	chr10:116312164-116312165	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs560392061	chr10:116312179-116312180	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs533153973	chr10:116312193-116312194	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs76882788	chr10:116312230-116312231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566952826	chr10:116312251-116312252	Weak transcription Enhancers	n/a	n/a	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
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
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116298600-116311600	Weak transcription	Gastric	stomach
2	chr10:116305000-116311000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:116305000-116317600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr10:116305200-116316000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:116305200-116318200	Weak transcription	Fetal Intestine Large	intestine
6	chr10:116307600-116313400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr10:116307600-116316000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:116307800-116317600	Weak transcription	Fetal Intestine Small	intestine
9	chr10:116308400-116311600	Weak transcription	Thymus	Thymus
10	chr10:116308600-116311400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr10:116308600-116312600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr10:116308600-116313200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:116308600-116315800	Weak transcription	HepG2	liver
14	chr10:116308800-116313200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:116309000-116316400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:116310200-116311600	Enhancers	Fetal Heart	heart
17	chr10:116310400-116311000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr10:116310400-116311000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:116310400-116311400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr10:116310400-116311800	Enhancers	Small Intestine	intestine
21	chr10:116310600-116311000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr10:116310600-116311000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:116310600-116311000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:116310600-116311000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:116310600-116311000	Active TSS	Aorta	Aorta
26	chr10:116310600-116311000	Flanking Active TSS	Liver	Liver
27	chr10:116310600-116311000	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr10:116310600-116311000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr10:116310600-116311000	Active TSS	Fetal Kidney	kidney
30	chr10:116310600-116311000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr10:116310600-116311000	Active TSS	Stomach Smooth Muscle	stomach
32	chr10:116310600-116311000	Flanking Active TSS	NH-A	brain
33	chr10:116310600-116311200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr10:116310600-116311200	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr10:116310600-116311600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr10:116310600-116311600	Active TSS	Colonic Mucosa	Colon
37	chr10:116310600-116311600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr10:116310600-116311600	Enhancers	HSMMtube	muscle
39	chr10:116310600-116311600	Flanking Active TSS	HUVEC	blood vessel
40	chr10:116310600-116312000	Enhancers	Left Ventricle	heart
41	chr10:116310600-116312000	Enhancers	Ovary	ovary
42	chr10:116310600-116313000	Enhancers	Fetal Muscle Leg	muscle
43	chr10:116310800-116311000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:116310800-116311000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:116310800-116311000	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr10:116310800-116311000	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr10:116310800-116311000	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr10:116310800-116311000	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr10:116310800-116311000	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr10:116310800-116311000	Enhancers	Esophagus	oesophagus

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