Variant report

Variant	nsv947600
Chromosome Location	chr10:27090659-27093432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27089103..27090816-chr10:27092531..27095480,2	K562	blood:
2	chr10:27051583..27054295-chr10:27088139..27090891,2	K562	blood:
3	chr10:27087122..27088975-chr10:27089037..27091906,2	MCF-7	breast:
4	chr10:27089103..27090816-chr10:27092531..27095480,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7094982	chr10:27090661-27090662	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184610310	chr10:27090679-27090680	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188197021	chr10:27090686-27090687	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191102755	chr10:27090703-27090704	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569483031	chr10:27090708-27090709	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535282276	chr10:27090760-27090761	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142330651	chr10:27090762-27090763	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528186403	chr10:27090800-27090801	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs370792913	chr10:27090817-27090818	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548346372	chr10:27090855-27090856	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs183589862	chr10:27090865-27090866	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs189453839	chr10:27090866-27090867	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs577722233	chr10:27090887-27090888	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546474471	chr10:27090911-27090912	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs558126198	chr10:27090942-27090943	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs151259426	chr10:27090958-27090959	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs534117394	chr10:27090959-27090960	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs75278587	chr10:27090962-27090963	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs542428050	chr10:27090994-27090995	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs72629729	chr10:27091005-27091006	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527782901	chr10:27091101-27091102	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs547876350	chr10:27091141-27091142	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs568060206	chr10:27091318-27091319	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs114578603	chr10:27091329-27091330	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs374939274	chr10:27091343-27091344	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs114125344	chr10:27091372-27091373	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs530550391	chr10:27091406-27091407	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs72629730	chr10:27091464-27091465	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs550480471	chr10:27091478-27091479	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs535387326	chr10:27091504-27091505	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs140446005	chr10:27091578-27091579	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs559369144	chr10:27091579-27091580	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs376808521	chr10:27091690-27091691	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534381086	chr10:27091716-27091717	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182006707	chr10:27091826-27091827	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575911228	chr10:27091858-27091859	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577685019	chr10:27091873-27091874	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537061575	chr10:27091894-27091895	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543424620	chr10:27091908-27091909	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576790267	chr10:27091936-27091937	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542559640	chr10:27091938-27091939	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555637859	chr10:27092045-27092046	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371922716	chr10:27092052-27092053	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572600546	chr10:27092135-27092136	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541136228	chr10:27092142-27092143	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528230623	chr10:27092176-27092177	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187051227	chr10:27092202-27092203	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs189843235	chr10:27092231-27092232	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs150483861	chr10:27092261-27092262	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs543389039	chr10:27092289-27092290	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	17440070	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute myeloid leukemia	20824076	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27070800-27091800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr10:27074800-27091600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:27074800-27091800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr10:27075000-27091600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr10:27075000-27104600	Weak transcription	Esophagus	oesophagus
6	chr10:27079800-27091800	Weak transcription	Fetal Heart	heart
7	chr10:27079800-27092200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:27080800-27092000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:27082200-27105400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:27082600-27091600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr10:27082600-27094000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:27083600-27094800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr10:27085600-27119000	Weak transcription	Fetal Lung	lung
14	chr10:27085800-27095600	Enhancers	Primary B cells from peripheral blood	blood
15	chr10:27086000-27093400	Weak transcription	Fetal Intestine Small	intestine
16	chr10:27086200-27096600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr10:27086600-27110400	Weak transcription	Fetal Intestine Large	intestine
18	chr10:27086800-27092000	Weak transcription	A549	lung
19	chr10:27087000-27097000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr10:27087200-27094400	Weak transcription	Aorta	Aorta
21	chr10:27087200-27096800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr10:27087600-27091400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr10:27087600-27091400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr10:27087800-27091400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr10:27087800-27091600	Weak transcription	Psoas Muscle	Psoas
26	chr10:27088000-27091400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr10:27088000-27091600	Weak transcription	Brain Anterior Caudate	brain
28	chr10:27088000-27096000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr10:27088200-27093400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr10:27088200-27100800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr10:27088400-27090800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr10:27088400-27096800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr10:27088600-27098800	Weak transcription	Pancreas	Pancrea
34	chr10:27089000-27091200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr10:27089000-27095600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr10:27089200-27092000	Flanking Active TSS	GM12878-XiMat	blood
37	chr10:27089400-27091200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr10:27089600-27090800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr10:27089800-27090800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr10:27089800-27091600	Weak transcription	Thymus	Thymus
41	chr10:27089800-27093000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:27090000-27092000	Enhancers	Small Intestine	intestine
43	chr10:27090000-27092400	Enhancers	Brain Substantia Nigra	brain
44	chr10:27090000-27093800	Enhancers	Dnd41	blood
45	chr10:27090000-27096400	Weak transcription	Fetal Stomach	stomach
46	chr10:27090200-27091600	Enhancers	Brain Hippocampus Middle	brain
47	chr10:27090200-27092400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr10:27090200-27093600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr10:27090200-27094000	Weak transcription	Right Atrium	heart
50	chr10:27090400-27091000	Enhancers	Brain Germinal Matrix	brain

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