Variant report

Variant	esv3439208
Chromosome Location	chr10:348552-353050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:352835..354904-chr10:383242..385492,2	MCF-7	breast:
2	chr10:329515..331543-chr10:346847..348584,2	MCF-7	breast:
3	chr10:352441..354760-chr10:358582..361541,3	MCF-7	breast:

Extended variants
information (count: 252 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:252 , 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	rs532697188	chr10:348553-348554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34776717	chr10:348580-348581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78881718	chr10:348592-348593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188442252	chr10:348593-348594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193189613	chr10:348621-348622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547155932	chr10:348625-348626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4578310	chr10:348655-348656	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533365442	chr10:348662-348663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549921409	chr10:348747-348748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185151461	chr10:348748-348749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190000209	chr10:348758-348759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3123232	chr10:348775-348776	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565919025	chr10:348786-348787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112424489	chr10:348838-348839	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs377730489	chr10:348839-348840	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs2380150	chr10:348846-348847	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114418824	chr10:348854-348855	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs115097660	chr10:348893-348894	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs148982210	chr10:348919-348920	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs35129282	chr10:348973-348974	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs370820424	chr10:348985-348986	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs556345160	chr10:348991-348992	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs576447002	chr10:348995-348996	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs568213909	chr10:348996-348997	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs117819271	chr10:349013-349014	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs368501399	chr10:349036-349037	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs111450682	chr10:349037-349038	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs540988412	chr10:349042-349043	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs191642857	chr10:349068-349069	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs533723791	chr10:349085-349086	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372868820	chr10:349092-349093	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs532818136	chr10:349115-349116	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs550008866	chr10:349121-349122	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs569904151	chr10:349152-349153	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs143747753	chr10:349160-349161	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs547218444	chr10:349173-349174	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs148117457	chr10:349175-349176	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs143905131	chr10:349199-349200	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs577783688	chr10:349219-349220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3123231	chr10:349223-349224	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs201190029	chr10:349240-349241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2380151	chr10:349241-349242	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs371530350	chr10:349311-349312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183782963	chr10:349398-349399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544667554	chr10:349461-349462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201941178	chr10:349462-349463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368996817	chr10:349464-349465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540129023	chr10:349465-349466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146422098	chr10:349475-349476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188164115	chr10:349522-349523	Weak transcription Strong transcription	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:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:298400-354200	Weak transcription	Colonic Mucosa	Colon
2	chr10:321400-360400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr10:323800-352200	Weak transcription	HepG2	liver
4	chr10:326000-363800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:327800-360800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr10:329000-375200	Weak transcription	Psoas Muscle	Psoas
7	chr10:329200-354000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr10:329200-357800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:329200-360400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr10:329400-352200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:329600-352400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr10:330400-359000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr10:331400-375400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:331800-354200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:333000-362600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:335000-353800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:337200-348800	Weak transcription	Pancreas	Pancrea
18	chr10:337400-363200	Weak transcription	Esophagus	oesophagus
19	chr10:338400-353400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr10:338600-350800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:340000-353400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr10:342400-375600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr10:343600-363200	Weak transcription	Fetal Brain Male	brain
24	chr10:343600-363600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:343800-358200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:344000-354000	Weak transcription	Osteobl	bone
27	chr10:344200-354000	Weak transcription	Stomach Mucosa	stomach
28	chr10:344200-369400	Weak transcription	A549	lung
29	chr10:344200-369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr10:344400-360400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr10:344400-363200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr10:344600-348800	Strong transcription	Fetal Brain Female	brain
33	chr10:344600-352000	Weak transcription	NHDF-Ad	bronchial
34	chr10:344600-352200	Weak transcription	Colon Smooth Muscle	Colon
35	chr10:344600-352200	Weak transcription	Left Ventricle	heart
36	chr10:344600-352200	Weak transcription	Right Atrium	heart
37	chr10:344600-354400	Weak transcription	NH-A	brain
38	chr10:344600-354800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr10:344800-352200	Weak transcription	Spleen	Spleen
40	chr10:344800-353200	Weak transcription	NHLF	lung
41	chr10:344800-360400	Weak transcription	Small Intestine	intestine
42	chr10:346000-349200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:346000-349400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:346000-349400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:346000-349600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr10:346000-350000	Strong transcription	Fetal Stomach	stomach
47	chr10:346000-350200	Strong transcription	HSMMtube	muscle
48	chr10:346000-367400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr10:346400-349000	Strong transcription	Fetal Intestine Large	intestine
50	chr10:346400-350000	Strong transcription	Fetal Intestine Small	intestine

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