Variant report

Variant	esv3439614
Chromosome Location	chr10:310002-312500
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	chr10:306311..308732-chr10:312476..314355,2	K562	blood:
2	chr10:311595..313288-chr10:383819..386750,2	MCF-7	breast:

Extended variants
information (count: 164 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371297500	chr10:310002-310003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185207008	chr10:310040-310041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542383003	chr10:310045-310046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578076499	chr10:310051-310052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144738452	chr10:310108-310109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190053614	chr10:310114-310115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560122522	chr10:310127-310128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114900434	chr10:310157-310158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558695391	chr10:310163-310164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560410191	chr10:310174-310175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532303362	chr10:310200-310201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3123247	chr10:310225-310226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs181348012	chr10:310239-310240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537448169	chr10:310268-310269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548271084	chr10:310271-310272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10430750	chr10:310320-310321	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534421525	chr10:310357-310358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554046065	chr10:310361-310362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184736883	chr10:310368-310369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540170341	chr10:310383-310384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199806243	chr10:310395-310396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111629774	chr10:310433-310434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556885914	chr10:310439-310440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111539206	chr10:310441-310442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs386739733	chr10:310444-310445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3123246	chr10:310446-310447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369451386	chr10:310449-310450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147627116	chr10:310477-310478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59670053	chr10:310492-310493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562218980	chr10:310495-310496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111922321	chr10:310505-310506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572413452	chr10:310516-310517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71374349	chr10:310538-310539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12573562	chr10:310551-310552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541494942	chr10:310554-310555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72653023	chr10:310559-310560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72653024	chr10:310562-310563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139679327	chr10:310563-310564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12573563	chr10:310564-310565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72653025	chr10:310567-310568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547843149	chr10:310575-310576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs3131992	chr10:310578-310579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs55894415	chr10:310610-310611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112028632	chr10:310617-310618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369878115	chr10:310618-310619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112071984	chr10:310621-310622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11596693	chr10:310622-310623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78736366	chr10:310626-310627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3131993	chr10:310637-310638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373214505	chr10:310644-310645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:294600-311600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:294800-328600	Weak transcription	Psoas Muscle	Psoas
3	chr10:295000-332600	Weak transcription	Small Intestine	intestine
4	chr10:295200-324200	Weak transcription	Fetal Heart	heart
5	chr10:296400-312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr10:296400-315400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:297600-321000	Weak transcription	Brain Angular Gyrus	brain
8	chr10:297800-321600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr10:298200-321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:298200-339600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:298400-313800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr10:298400-317200	Weak transcription	Brain Substantia Nigra	brain
13	chr10:298400-318600	Weak transcription	Aorta	Aorta
14	chr10:298400-318600	Weak transcription	Gastric	stomach
15	chr10:298400-318800	Weak transcription	Brain Hippocampus Middle	brain
16	chr10:298400-321600	Weak transcription	Right Ventricle	heart
17	chr10:298400-323000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr10:298400-323000	Weak transcription	Esophagus	oesophagus
19	chr10:298400-323000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr10:298400-323000	Weak transcription	Spleen	Spleen
21	chr10:298400-354200	Weak transcription	Colonic Mucosa	Colon
22	chr10:298600-313000	Weak transcription	Pancreas	Pancrea
23	chr10:298600-321000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr10:298600-321200	Weak transcription	Ovary	ovary
25	chr10:298800-317400	Weak transcription	Fetal Thymus	thymus
26	chr10:299600-312800	Weak transcription	A549	lung
27	chr10:300200-313000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:300200-321600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:301000-310200	Weak transcription	Dnd41	blood
30	chr10:301000-315600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr10:301000-321000	Weak transcription	Colon Smooth Muscle	Colon
32	chr10:301200-318600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr10:301200-322800	Weak transcription	Placenta	Placenta
34	chr10:301400-313000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:301400-323000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr10:301600-317200	Weak transcription	Fetal Intestine Small	intestine
37	chr10:301600-318400	Weak transcription	Brain Anterior Caudate	brain
38	chr10:302200-312800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:302200-318600	Weak transcription	HSMMtube	muscle
40	chr10:302400-312800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr10:302400-312800	Weak transcription	Osteobl	bone
42	chr10:302400-313000	Weak transcription	NH-A	brain
43	chr10:302400-315200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:302400-318600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr10:302400-321000	Weak transcription	Fetal Lung	lung
46	chr10:302400-321000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr10:302400-323000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr10:302600-313000	Weak transcription	NHDF-Ad	bronchial
49	chr10:302600-315600	Weak transcription	Lung	lung
50	chr10:302600-316400	Weak transcription	Stomach Smooth Muscle	stomach

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