Variant report

Variant	esv1817326
Chromosome Location	chr10:25117363-25138323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:25130136..25132537-chr10:25135004..25137569,3	K562	blood:
2	chr10:25130136..25132537-chr10:25135004..25137569,3	K562	blood:
3	chr10:25128652..25131303-chr10:25132954..25135859,2	MCF-7	breast:
4	chr10:25137912..25139904-chr10:25154066..25156148,2	K562	blood:
5	chr10:25128652..25131303-chr10:25132954..25135859,2	MCF-7	breast:
6	chr10:25009839..25012748-chr10:25136800..25140311,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107863	chromatin interactions

Extended variants
information (count: 827 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:827 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6482445	chr10:25117363-25117364	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs36122920	chr10:25117368-25117369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184849417	chr10:25117391-25117392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140502621	chr10:25117410-25117411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145663707	chr10:25117419-25117420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531187403	chr10:25117433-25117434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373342645	chr10:25117449-25117450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374634021	chr10:25117453-25117454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550617689	chr10:25117461-25117462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560832324	chr10:25117482-25117483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188784574	chr10:25117490-25117491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79852320	chr10:25117511-25117512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557869229	chr10:25117515-25117516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57946828	chr10:25117538-25117539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181563941	chr10:25117579-25117580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566558200	chr10:25117605-25117606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556798510	chr10:25117637-25117638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1312841	chr10:25117651-25117652	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540352746	chr10:25117652-25117653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183879831	chr10:25117661-25117662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569863990	chr10:25117662-25117663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370914532	chr10:25117667-25117668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569062639	chr10:25117668-25117669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537722267	chr10:25117738-25117739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1313659	chr10:25117741-25117742	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573732715	chr10:25117742-25117743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536224752	chr10:25117747-25117748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114322237	chr10:25117748-25117749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573279155	chr10:25117777-25117778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73606573	chr10:25117784-25117785	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs201550962	chr10:25117790-25117791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565447891	chr10:25117824-25117825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189643367	chr10:25117840-25117841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544953682	chr10:25117848-25117849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561540031	chr10:25117855-25117856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4553267	chr10:25117861-25117862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546607477	chr10:25117889-25117890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386741971	chr10:25117891-25117892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116106276	chr10:25117893-25117894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535107754	chr10:25118013-25118014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552111995	chr10:25118045-25118046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181532197	chr10:25118094-25118095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76316717	chr10:25118103-25118104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78711544	chr10:25118127-25118128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35030926	chr10:25118211-25118212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370349874	chr10:25118214-25118215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12762625	chr10:25118215-25118216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199792199	chr10:25118217-25118218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59468144	chr10:25118218-25118219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7083754	chr10:25118219-25118220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:40)

Disease	PMID	Source
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
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25111800-25140000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:25112200-25123400	Weak transcription	Brain Hippocampus Middle	brain
3	chr10:25114600-25126400	Weak transcription	Fetal Lung	lung
4	chr10:25115400-25135600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr10:25115800-25126000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr10:25117000-25117400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr10:25117000-25117800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr10:25117200-25117400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr10:25117400-25120800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr10:25118800-25119000	Enhancers	Fetal Brain Female	brain
11	chr10:25119000-25126200	Weak transcription	Fetal Brain Female	brain
12	chr10:25120600-25124400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr10:25121600-25123200	Weak transcription	Fetal Stomach	stomach
14	chr10:25123000-25124600	Enhancers	Placenta	Placenta
15	chr10:25123200-25123600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:25123200-25123800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr10:25123200-25124200	Strong transcription	Fetal Stomach	stomach
18	chr10:25123200-25138600	Weak transcription	Fetal Intestine Small	intestine
19	chr10:25123400-25123600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr10:25123400-25123800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr10:25123400-25124000	Strong transcription	Brain Hippocampus Middle	brain
22	chr10:25123600-25124000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr10:25123600-25124200	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr10:25124000-25124600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:25124000-25126200	Weak transcription	Brain Hippocampus Middle	brain
26	chr10:25124200-25124400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr10:25124200-25138600	Weak transcription	Fetal Stomach	stomach
28	chr10:25126400-25126800	ZNF genes & repeats	Fetal Lung	lung
29	chr10:25126600-25127400	Weak transcription	Brain Hippocampus Middle	brain
30	chr10:25126600-25135400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr10:25130800-25135400	Weak transcription	Brain Hippocampus Middle	brain
32	chr10:25131800-25135000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr10:25132000-25135400	Weak transcription	Fetal Brain Male	brain
34	chr10:25133800-25134200	Enhancers	Dnd41	blood
35	chr10:25134000-25140800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr10:25135000-25135800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
37	chr10:25135000-25136000	Enhancers	Placenta	Placenta
38	chr10:25135000-25137200	Weak transcription	Ovary	ovary
39	chr10:25135200-25135400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr10:25135200-25136400	Enhancers	Fetal Muscle Leg	muscle
41	chr10:25135200-25136400	Enhancers	K562	blood
42	chr10:25135200-25137800	Enhancers	Stomach Mucosa	stomach
43	chr10:25135200-25137800	Enhancers	Hela-S3	cervix
44	chr10:25135400-25135600	Enhancers	Duodenum Mucosa	Duodenum
45	chr10:25135400-25135600	Enhancers	Fetal Brain Female	brain
46	chr10:25135400-25135800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr10:25135400-25135800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr10:25135400-25135800	Enhancers	Fetal Muscle Trunk	muscle
49	chr10:25135400-25136000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr10:25135400-25136200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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