Variant report

Variant	esv17514
Chromosome Location	chr10:391342-393842
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	chr10:382178..386587-chr10:393776..396360,3	MCF-7	breast:

Extended variants
information (count: 265 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547817770	chr10:391344-391345	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs376682290	chr10:391360-391361	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs371614125	chr10:391368-391369	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs539324442	chr10:391373-391374	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs55869565	chr10:391383-391384	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs180801233	chr10:391385-391386	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs61837321	chr10:391398-391399	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575424204	chr10:391429-391430	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185018120	chr10:391441-391442	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555095485	chr10:391442-391443	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574412366	chr10:391446-391447	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57867572	chr10:391451-391452	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148342878	chr10:391453-391454	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371925959	chr10:391454-391455	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60278962	chr10:391457-391458	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57583752	chr10:391462-391463	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200012764	chr10:391473-391474	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58522304	chr10:391474-391475	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181884161	chr10:391475-391476	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139331528	chr10:391477-391478	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74113950	chr10:391480-391481	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186814252	chr10:391489-391490	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191194578	chr10:391490-391491	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74658239	chr10:391499-391500	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548521312	chr10:391502-391503	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78728492	chr10:391505-391506	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75484065	chr10:391521-391522	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78620017	chr10:391522-391523	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75875421	chr10:391540-391541	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562219806	chr10:391546-391547	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527998834	chr10:391567-391568	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77939775	chr10:391571-391572	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370026424	chr10:391573-391574	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78357433	chr10:391574-391575	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71492975	chr10:391591-391592	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55856937	chr10:391596-391597	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113052959	chr10:391617-391618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4880606	chr10:391621-391622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75700556	chr10:391640-391641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74934892	chr10:391641-391642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111932223	chr10:391647-391648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56243395	chr10:391651-391652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78083004	chr10:391660-391661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548098958	chr10:391662-391663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376274084	chr10:391664-391665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570903724	chr10:391670-391671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78242922	chr10:391679-391680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539818336	chr10:391689-391690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75597701	chr10:391708-391709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56106345	chr10:391760-391761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:370400-418200	Weak transcription	Small Intestine	intestine
2	chr10:375800-402200	Weak transcription	Psoas Muscle	Psoas
3	chr10:375800-418800	Weak transcription	Right Atrium	heart
4	chr10:375800-419800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr10:379800-393600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr10:380200-397400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr10:380200-397400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr10:380200-423200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:380400-397400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr10:381000-391400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:381000-391600	Strong transcription	Brain Germinal Matrix	brain
12	chr10:381000-397400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr10:381200-391400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:381200-391400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr10:381200-391600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:381200-391600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr10:381400-391600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:381800-393800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr10:382000-391400	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr10:382200-391400	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr10:382200-391400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:382800-391400	Strong transcription	Left Ventricle	heart
23	chr10:383800-400600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr10:383800-424200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:383800-433000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr10:384000-393800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr10:384000-394600	Weak transcription	HSMM	muscle
28	chr10:384000-400400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr10:384000-406400	Weak transcription	HepG2	liver
30	chr10:384000-414400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr10:384400-394600	Weak transcription	Fetal Brain Male	brain
32	chr10:384600-393800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr10:384600-393800	Weak transcription	Fetal Kidney	kidney
34	chr10:384600-405600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr10:384600-415200	Weak transcription	Fetal Heart	heart
36	chr10:385000-391400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:385000-391400	Strong transcription	Fetal Intestine Small	intestine
38	chr10:385000-391400	Strong transcription	Fetal Muscle Leg	muscle
39	chr10:385000-391400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr10:385000-391600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:385000-391600	Strong transcription	Adipose Nuclei	Adipose
42	chr10:385000-400800	Weak transcription	Colonic Mucosa	Colon
43	chr10:385200-391400	Strong transcription	Brain Anterior Caudate	brain
44	chr10:385200-393200	Weak transcription	Fetal Thymus	thymus
45	chr10:385400-391600	Strong transcription	Liver	Liver
46	chr10:385600-391400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr10:385600-409200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:385600-417200	Weak transcription	A549	lung
49	chr10:385800-399800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr10:386200-391400	Strong transcription	Brain Inferior Temporal Lobe	brain

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