Variant report

Variant	esv12968
Chromosome Location	chr10:18747626-18761494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:18756743..18758287-chr10:18759029..18761253,2	MCF-7	breast:
2	chr10:18756743..18758287-chr10:18759029..18761253,2	MCF-7	breast:
3	chr10:18751028..18753612-chr10:18765878..18768342,2	MCF-7	breast:

Extended variants
information (count: 663 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190537755	chr10:18747647-18747648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371122031	chr10:18747692-18747693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12770401	chr10:18747747-18747748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs35620050	chr10:18747751-18747752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs78462934	chr10:18747755-18747756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79960536	chr10:18747756-18747757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375130857	chr10:18747782-18747783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374431408	chr10:18747787-18747788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575673970	chr10:18747805-18747806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542768274	chr10:18747841-18747842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12765646	chr10:18747868-18747869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs111399237	chr10:18747874-18747875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546933610	chr10:18747894-18747895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564702024	chr10:18747924-18747925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532164986	chr10:18747941-18747942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193247403	chr10:18747973-18747974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184540492	chr10:18747978-18747979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568905531	chr10:18747999-18748000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146549802	chr10:18748020-18748021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536354477	chr10:18748063-18748064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148731680	chr10:18748065-18748066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566721759	chr10:18748067-18748068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142342845	chr10:18748093-18748094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151284664	chr10:18748145-18748146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76927282	chr10:18748174-18748175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548719710	chr10:18748192-18748193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538997676	chr10:18748232-18748233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557083954	chr10:18748267-18748268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575654822	chr10:18748274-18748275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60708171	chr10:18748289-18748290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140542366	chr10:18748291-18748292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561141402	chr10:18748314-18748315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559362858	chr10:18748343-18748344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573127106	chr10:18748359-18748360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77973690	chr10:18748368-18748369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117943270	chr10:18748417-18748418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150463593	chr10:18748423-18748424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368575110	chr10:18748440-18748441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550503082	chr10:18748555-18748556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147737872	chr10:18748562-18748563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142650822	chr10:18748584-18748585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548334243	chr10:18748602-18748603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188901678	chr10:18748613-18748614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540071757	chr10:18748632-18748633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181325793	chr10:18748655-18748656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146919506	chr10:18748657-18748658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80145851	chr10:18748661-18748662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557316987	chr10:18748662-18748663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185588557	chr10:18748702-18748703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs137909292	chr10:18748725-18748726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18732400-18801600	Weak transcription	Pancreas	Pancrea
2	chr10:18739000-18752600	Weak transcription	Right Atrium	heart
3	chr10:18739000-18761000	Weak transcription	Colon Smooth Muscle	Colon
4	chr10:18741600-18763200	Weak transcription	Fetal Stomach	stomach
5	chr10:18744400-18761800	Weak transcription	Ovary	ovary
6	chr10:18745200-18750800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr10:18745400-18763200	Weak transcription	Right Ventricle	heart
8	chr10:18745800-18761600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr10:18746200-18752400	Weak transcription	Left Ventricle	heart
10	chr10:18747400-18749000	Weak transcription	Fetal Heart	heart
11	chr10:18749000-18759000	Enhancers	Fetal Heart	heart
12	chr10:18750800-18751400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr10:18751000-18760800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr10:18751000-18761400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr10:18751400-18752600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr10:18752400-18752800	Enhancers	Left Ventricle	heart
17	chr10:18752600-18753000	Enhancers	Right Atrium	heart
18	chr10:18752600-18753600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr10:18752800-18753000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:18752800-18755200	Weak transcription	Left Ventricle	heart
21	chr10:18753000-18755200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:18753000-18775600	Weak transcription	Right Atrium	heart
23	chr10:18753600-18761800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr10:18754400-18754600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr10:18754600-18756000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr10:18755200-18755400	Enhancers	Left Ventricle	heart
27	chr10:18755400-18755800	Weak transcription	Left Ventricle	heart
28	chr10:18755800-18756000	Enhancers	Left Ventricle	heart
29	chr10:18756000-18759600	Weak transcription	Left Ventricle	heart
30	chr10:18756400-18756600	Enhancers	Brain Hippocampus Middle	brain
31	chr10:18758200-18758800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:18759000-18759400	Weak transcription	Fetal Heart	heart
33	chr10:18759400-18761400	Enhancers	Fetal Heart	heart
34	chr10:18759600-18760400	Enhancers	Left Ventricle	heart
35	chr10:18759800-18760000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr10:18760000-18765000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr10:18760400-18761000	Weak transcription	Left Ventricle	heart
38	chr10:18760600-18760800	Weak transcription	Brain Hippocampus Middle	brain
39	chr10:18760600-18761600	Enhancers	Dnd41	blood
40	chr10:18760800-18761000	Enhancers	Brain Hippocampus Middle	brain
41	chr10:18760800-18761000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr10:18760800-18761000	Enhancers	GM12878-XiMat	blood
43	chr10:18760800-18763200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr10:18761000-18761200	Enhancers	Aorta	Aorta
45	chr10:18761000-18761600	Enhancers	Left Ventricle	heart
46	chr10:18761000-18761800	Weak transcription	Brain Hippocampus Middle	brain
47	chr10:18761000-18761800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr10:18761000-18763000	Enhancers	Colon Smooth Muscle	Colon
49	chr10:18761400-18762000	Weak transcription	Aorta	Aorta
50	chr10:18761400-18762000	Enhancers	Stomach Smooth Muscle	stomach

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