Variant report

Variant	esv3494702
Chromosome Location	chr10:28502096-28512894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:28503327..28506252-chr10:28507179..28508857,2	MCF-7	breast:
2	chr10:28508575..28511096-chr10:28514508..28517306,2	MCF-7	breast:
3	chr10:28503327..28506252-chr10:28507179..28508857,2	MCF-7	breast:
4	chr10:28505448..28507000-chr10:28508709..28511532,2	K562	blood:
5	chr10:28505448..28507000-chr10:28508709..28511532,2	K562	blood:

Extended variants
information (count: 407 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555642416	chr10:28502110-28502111	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78694600	chr10:28502158-28502159	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375526558	chr10:28502162-28502163	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7893685	chr10:28502163-28502164	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553298475	chr10:28502201-28502202	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186951549	chr10:28502231-28502232	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560605196	chr10:28502233-28502234	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34748927	chr10:28502249-28502250	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542263511	chr10:28502267-28502268	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7893935	chr10:28502304-28502305	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs377655206	chr10:28502313-28502314	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113100556	chr10:28502324-28502325	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540779551	chr10:28502420-28502421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140819348	chr10:28502451-28502452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546114630	chr10:28502480-28502481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564421410	chr10:28502486-28502487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528746650	chr10:28502495-28502496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189972967	chr10:28502500-28502501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559254164	chr10:28502560-28502561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182275108	chr10:28502588-28502589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554164533	chr10:28502598-28502599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573990778	chr10:28502631-28502632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183290821	chr10:28502683-28502684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187439052	chr10:28502699-28502700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12263084	chr10:28502700-28502701	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563220365	chr10:28502701-28502702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575725136	chr10:28502721-28502722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534672589	chr10:28502738-28502739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531939446	chr10:28502745-28502746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141502745	chr10:28502768-28502769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs67776736	chr10:28502773-28502774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537221878	chr10:28502810-28502811	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11006922	chr10:28502823-28502824	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552533245	chr10:28502840-28502841	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545181282	chr10:28503015-28503016	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373414996	chr10:28503055-28503056	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193261531	chr10:28503059-28503060	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565178724	chr10:28503076-28503077	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570672855	chr10:28503087-28503088	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534893075	chr10:28503093-28503094	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553097254	chr10:28503167-28503168	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574738850	chr10:28503221-28503222	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535619229	chr10:28503243-28503244	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185518283	chr10:28503270-28503271	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7073107	chr10:28503308-28503309	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs78788411	chr10:28503313-28503314	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114592457	chr10:28503315-28503316	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573459687	chr10:28503320-28503321	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531072765	chr10:28503330-28503331	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540879983	chr10:28503353-28503354	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28467600-28525600	Weak transcription	Aorta	Aorta
2	chr10:28485600-28504400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:28487600-28529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr10:28489800-28504400	Weak transcription	Esophagus	oesophagus
5	chr10:28491200-28523200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:28492200-28504400	Weak transcription	Psoas Muscle	Psoas
7	chr10:28492200-28506800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:28492600-28506400	Weak transcription	Colon Smooth Muscle	Colon
9	chr10:28492600-28507200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr10:28497400-28503800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr10:28497400-28506600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr10:28497800-28503400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:28498000-28505600	Weak transcription	HSMMtube	muscle
14	chr10:28498000-28506600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr10:28498200-28504400	Weak transcription	Lung	lung
16	chr10:28498200-28506600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr10:28498200-28531200	Weak transcription	Primary B cells from cord blood	blood
18	chr10:28498200-28537000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr10:28498400-28503200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:28498400-28504000	Weak transcription	Fetal Intestine Small	intestine
21	chr10:28498400-28504400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:28499000-28505000	Weak transcription	HepG2	liver
23	chr10:28499000-28506800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr10:28499000-28507000	Weak transcription	Ovary	ovary
25	chr10:28499400-28503000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr10:28500000-28502600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr10:28500200-28502200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr10:28500200-28503400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr10:28500400-28503200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr10:28500400-28506800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr10:28500600-28502400	Strong transcription	Primary T cells from cord blood	blood
32	chr10:28500600-28503600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr10:28500800-28503000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr10:28500800-28503000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr10:28500800-28503200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr10:28500800-28503400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr10:28501000-28502200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:28501000-28503800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr10:28501200-28502400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr10:28501200-28503000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr10:28501400-28502400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:28501400-28504200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr10:28501400-28504200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr10:28501600-28502600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr10:28501800-28503200	Weak transcription	Fetal Heart	heart
46	chr10:28501800-28504400	Weak transcription	Gastric	stomach
47	chr10:28501800-28506200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr10:28502000-28504400	Weak transcription	Stomach Mucosa	stomach
49	chr10:28502000-28506400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr10:28502000-28531600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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