Variant report

Variant	esv1845096
Chromosome Location	chr10:28405411-28423204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:28406473..28409563-chr10:28410652..28413187,3	MCF-7	breast:
2	chr10:28415197..28416716-chr10:28418291..28420406,2	K562	blood:
3	chr10:28415197..28416716-chr10:28418291..28420406,2	K562	blood:
4	chr10:28406473..28409563-chr10:28410652..28413187,3	MCF-7	breast:

Extended variants
information (count: 656 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7916852	chr10:28405411-28405412	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150060981	chr10:28405531-28405532	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530386675	chr10:28405553-28405554	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560264409	chr10:28405559-28405560	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544199574	chr10:28405684-28405685	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78302884	chr10:28405736-28405737	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60202642	chr10:28405897-28405898	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571589628	chr10:28405920-28405921	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528192527	chr10:28405950-28405951	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112521068	chr10:28405974-28405975	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58270577	chr10:28406091-28406092	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561550863	chr10:28406102-28406103	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529052817	chr10:28406104-28406105	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531636123	chr10:28406143-28406144	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs60436039	chr10:28406230-28406231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186015252	chr10:28406250-28406251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189294170	chr10:28406251-28406252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147734015	chr10:28406276-28406277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181884828	chr10:28406307-28406308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566822746	chr10:28406340-28406341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186240671	chr10:28406407-28406408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533803081	chr10:28406419-28406420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190663302	chr10:28406425-28406426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538428561	chr10:28406432-28406433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529092542	chr10:28406455-28406456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556848452	chr10:28406667-28406668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578169709	chr10:28406700-28406701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549167368	chr10:28406735-28406736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569335339	chr10:28406786-28406787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140933020	chr10:28406820-28406821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562656345	chr10:28406862-28406863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369259015	chr10:28406894-28406895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148306655	chr10:28406944-28406945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557480373	chr10:28406960-28406961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572753960	chr10:28406991-28406992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551764708	chr10:28406992-28406993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539988437	chr10:28406994-28406995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11006880	chr10:28407023-28407024	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs553673369	chr10:28407071-28407072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543982879	chr10:28407108-28407109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562675843	chr10:28407112-28407113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548500363	chr10:28407145-28407146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566713976	chr10:28407157-28407158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560288959	chr10:28407282-28407283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144791081	chr10:28407299-28407300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73606066	chr10:28407333-28407334	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs200225879	chr10:28407421-28407422	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567744427	chr10:28407448-28407449	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73606067	chr10:28407450-28407451	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs56141811	chr10:28407465-28407466	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:43)

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

Chromatin state (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28347000-28412200	Weak transcription	Left Ventricle	heart
2	chr10:28347000-28414600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:28364800-28416600	Weak transcription	Pancreas	Pancrea
4	chr10:28367800-28420200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:28376000-28438400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:28376600-28416600	Weak transcription	Fetal Intestine Large	intestine
7	chr10:28378000-28418400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:28378600-28407400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr10:28378600-28412800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr10:28378600-28425600	Weak transcription	Colon Smooth Muscle	Colon
11	chr10:28378800-28407400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr10:28378800-28408400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:28379000-28407000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr10:28379200-28406600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr10:28379200-28416600	Weak transcription	Fetal Intestine Small	intestine
16	chr10:28379800-28407800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr10:28389600-28416400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr10:28392200-28417000	Weak transcription	Esophagus	oesophagus
19	chr10:28392400-28416800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr10:28396200-28414400	Weak transcription	Adipose Nuclei	Adipose
21	chr10:28396400-28422400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr10:28396600-28407400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:28396800-28407400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr10:28396800-28416600	Weak transcription	Aorta	Aorta
25	chr10:28398000-28417200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr10:28398200-28407600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr10:28401200-28407800	Weak transcription	HSMM	muscle
28	chr10:28401200-28408000	Weak transcription	HUVEC	blood vessel
29	chr10:28401200-28409000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:28401800-28414800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr10:28402200-28408800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr10:28403000-28409000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:28403400-28414800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr10:28403600-28443200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr10:28404000-28407600	Weak transcription	Primary T cells from cord blood	blood
36	chr10:28404400-28407800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr10:28404600-28407400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr10:28404800-28416800	Weak transcription	Fetal Stomach	stomach
39	chr10:28405000-28407200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr10:28405200-28405600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr10:28405200-28406200	Enhancers	Brain Germinal Matrix	brain
42	chr10:28405400-28406000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:28405600-28407400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr10:28406000-28408000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr10:28406200-28409200	Weak transcription	HepG2	liver
46	chr10:28406600-28413400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr10:28406600-28421600	Weak transcription	Primary B cells from cord blood	blood
48	chr10:28407000-28413400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr10:28407200-28409800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr10:28407400-28407800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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