Variant report

Variant	esv3317119
Chromosome Location	chr10:491452-495950
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	chr10:482519..484382-chr10:495131..497388,2	MCF-7	breast:
2	chr10:485797..489382-chr10:492522..494449,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233021	chromatin interactions

Extended variants
information (count: 319 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532731689	chr10:491462-491463	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190234216	chr10:491473-491474	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562977287	chr10:491475-491476	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569474872	chr10:491505-491506	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181657042	chr10:491544-491545	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559995291	chr10:491550-491551	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367913387	chr10:491553-491554	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386739746	chr10:491554-491555	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548144340	chr10:491562-491563	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568120759	chr10:491571-491572	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531371023	chr10:491583-491584	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529889247	chr10:491584-491585	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200405896	chr10:491595-491596	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546484367	chr10:491596-491597	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566689750	chr10:491601-491602	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61837242	chr10:491604-491605	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146143533	chr10:491624-491625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375695989	chr10:491643-491644	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538560453	chr10:491719-491720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367642240	chr10:491730-491731	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554849461	chr10:491737-491738	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537949586	chr10:491746-491747	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11594274	chr10:491748-491749	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554558980	chr10:491754-491755	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185990287	chr10:491767-491768	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544604609	chr10:491783-491784	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533812178	chr10:491788-491789	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111963805	chr10:491882-491883	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112952127	chr10:491883-491884	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116156855	chr10:491884-491885	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80314169	chr10:491897-491898	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75733974	chr10:491900-491901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140143259	chr10:491915-491916	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577493467	chr10:491920-491921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11812149	chr10:491925-491926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76803110	chr10:491940-491941	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546349108	chr10:491974-491975	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201578925	chr10:491990-491991	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377092916	chr10:491991-491992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145781530	chr10:491999-492000	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142844663	chr10:492018-492019	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540328571	chr10:492022-492023	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373734211	chr10:492023-492024	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541920677	chr10:492024-492025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561891407	chr10:492052-492053	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527668547	chr10:492078-492079	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547417781	chr10:492080-492081	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188978338	chr10:492088-492089	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7096864	chr10:492103-492104	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552311618	chr10:492104-492105	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:436600-521200	Weak transcription	HepG2	liver
2	chr10:443400-497000	Weak transcription	Psoas Muscle	Psoas
3	chr10:445800-498400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr10:456000-496600	Weak transcription	Fetal Heart	heart
5	chr10:466200-500000	Weak transcription	NHDF-Ad	bronchial
6	chr10:466400-497200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr10:467600-496600	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:468800-496200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:469600-496800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:469800-496600	Weak transcription	Adipose Nuclei	Adipose
11	chr10:474800-495000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:476800-500000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr10:479800-503600	Weak transcription	NHLF	lung
14	chr10:482600-498400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:482600-498400	Weak transcription	Spleen	Spleen
16	chr10:483000-503600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:483400-499400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:483600-491600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr10:483600-491800	Weak transcription	Fetal Intestine Large	intestine
20	chr10:483600-498600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:483600-498600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:483600-501000	Weak transcription	Esophagus	oesophagus
23	chr10:484600-492600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr10:484600-496000	Weak transcription	Brain Hippocampus Middle	brain
25	chr10:484800-491600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr10:485400-491800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr10:485400-492400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:485400-494800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr10:485400-496400	Weak transcription	Ovary	ovary
30	chr10:485600-491600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr10:485600-496200	Weak transcription	Aorta	Aorta
32	chr10:485600-498600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:485800-496400	Weak transcription	Fetal Lung	lung
34	chr10:486000-498200	Weak transcription	Fetal Brain Female	brain
35	chr10:486000-500600	Weak transcription	NH-A	brain
36	chr10:486400-496000	Weak transcription	Brain Angular Gyrus	brain
37	chr10:486400-496200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:486400-496600	Weak transcription	Left Ventricle	heart
39	chr10:486400-504600	Weak transcription	Fetal Kidney	kidney
40	chr10:486600-498200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr10:486800-496200	Weak transcription	Osteobl	bone
42	chr10:486800-496400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:486800-496600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr10:486800-498800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:486800-505400	Weak transcription	HSMM	muscle
46	chr10:487000-493000	Weak transcription	Fetal Intestine Small	intestine
47	chr10:487000-496600	Weak transcription	Right Ventricle	heart
48	chr10:487000-496600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr10:487000-498400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr10:487400-496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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