Variant report

Variant	nsv894985
Chromosome Location	chr10:27869503-27957785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:27909294..27910994-chr10:27914195..27916114,2	MCF-7	breast:
2	chr10:27906569..27908486-chr10:27915166..27917379,2	MCF-7	breast:
3	chr10:27863731..27866608-chr10:27917439..27919654,2	K562	blood:
4	chr10:27859104..27861978-chr10:27867954..27869604,2	MCF-7	breast:
5	chr10:27734739..27735253-chr10:27945593..27946175,2	K562	blood:
6	chr10:27865620..27868462-chr10:27871275..27873432,2	K562	blood:
7	chr10:27926949..27929533-chr10:28007712..28009624,2	MCF-7	breast:
8	chr10:27909294..27910994-chr10:27914195..27916114,2	MCF-7	breast:
9	chr10:27945241..27946199-chr10:28013100..28013831,2	MCF-7	breast:
10	chr10:27944057..27945751-chr10:27951830..27953869,2	MCF-7	breast:
11	chr10:27915568..27918420-chr10:27918885..27920818,3	K562	blood:
12	chr10:27915568..27918420-chr10:27918885..27920818,3	K562	blood:
13	chr10:27847146..27848083-chr10:27945490..27946144,5	K562	blood:
14	chr10:27926269..27926941-chr10:28009350..28009901,2	MCF-7	breast:
15	chr10:27944057..27945751-chr10:27951830..27953869,2	MCF-7	breast:
16	chr10:27906569..27908486-chr10:27915166..27917379,2	MCF-7	breast:
17	chr10:27847152..27848079-chr10:27945067..27946209,10	MCF-7	breast:
18	chr10:27926074..27926787-chr10:28009084..28009786,3	MCF-7	breast:
19	chr10:27735015..27735678-chr10:27915914..27916457,2	K562	blood:

No data

Extended variants
information (count: 2821 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:2821 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532208465	chr10:27883267-27883268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547265657	chr10:27883274-27883275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565682740	chr10:27883313-27883314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188573138	chr10:27884823-27884824	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs12774465	chr10:27884835-27884836	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181195459	chr10:27884837-27884838	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186213559	chr10:27884873-27884874	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs574610338	chr10:27884934-27884935	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs11015894	chr10:27884951-27884952	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs77319593	chr10:27884952-27884953	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs532558465	chr10:27884979-27884980	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs190735338	chr10:27884993-27884994	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs552553502	chr10:27885007-27885008	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2201366	chr10:27885019-27885020	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs148228766	chr10:27885086-27885087	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs566216876	chr10:27885173-27885174	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs547179391	chr10:27885186-27885187	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs144282496	chr10:27888249-27888250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560369920	chr10:27888358-27888359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549810280	chr10:27888382-27888383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528002120	chr10:27888387-27888388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11015895	chr10:27888502-27888503	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186327235	chr10:27888518-27888519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528908767	chr10:27888528-27888529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368925678	chr10:27888530-27888531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11015896	chr10:27888561-27888562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs146564798	chr10:27888571-27888572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539602104	chr10:27888574-27888575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190779313	chr10:27888611-27888612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7072156	chr10:27888617-27888618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7073173	chr10:27888625-27888626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs376725948	chr10:27888652-27888653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570738195	chr10:27888658-27888659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181807126	chr10:27888669-27888670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573976136	chr10:27888670-27888671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569572965	chr10:27888677-27888678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563311188	chr10:27888680-27888681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556582505	chr10:27888697-27888698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140026189	chr10:27888711-27888712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545171137	chr10:27888712-27888713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112649460	chr10:27888720-27888721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560332402	chr10:27888811-27888812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538892284	chr10:27888813-27888814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572337163	chr10:27888846-27888847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10764717	chr10:27888853-27888854	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561470770	chr10:27888858-27888859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528869830	chr10:27888870-27888871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186030273	chr10:27888916-27888917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7075864	chr10:27888928-27888929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533081369	chr10:27888965-27888966	Enhancers	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
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
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27883200-27883400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr10:27884800-27885200	Active TSS	Psoas Muscle	Psoas
3	chr10:27888200-27888400	Enhancers	Pancreas	Pancrea
4	chr10:27888400-27891800	Enhancers	Fetal Muscle Leg	muscle
5	chr10:27889600-27889800	Enhancers	Stomach Smooth Muscle	stomach
6	chr10:27889600-27890200	Enhancers	Esophagus	oesophagus
7	chr10:27889600-27891200	Enhancers	Fetal Stomach	stomach
8	chr10:27889800-27890200	Enhancers	Right Ventricle	heart
9	chr10:27889800-27890200	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr10:27889800-27891000	Enhancers	Rectal Smooth Muscle	rectum
11	chr10:27889800-27891200	Enhancers	Duodenum Mucosa	Duodenum
12	chr10:27890000-27891200	Enhancers	HepG2	liver
13	chr10:27890000-27891400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr10:27890200-27890400	Enhancers	Stomach Smooth Muscle	stomach
15	chr10:27890200-27890800	Enhancers	Fetal Heart	heart
16	chr10:27890200-27891200	Enhancers	Fetal Lung	lung
17	chr10:27890200-27899200	Weak transcription	Esophagus	oesophagus
18	chr10:27890400-27890600	Active TSS	Liver	Liver
19	chr10:27890400-27890600	Active TSS	NHDF-Ad	bronchial
20	chr10:27890400-27891000	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr10:27890400-27891200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr10:27890600-27890800	Flanking Active TSS	Liver	Liver
23	chr10:27890600-27890800	Flanking Active TSS	NHDF-Ad	bronchial
24	chr10:27890600-27891400	Enhancers	Fetal Intestine Small	intestine
25	chr10:27890800-27891000	Enhancers	Liver	Liver
26	chr10:27890800-27891200	Enhancers	Osteobl	bone
27	chr10:27891000-27891400	Enhancers	Stomach Smooth Muscle	stomach
28	chr10:27891200-27891400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr10:27891400-27896600	Weak transcription	Fetal Intestine Small	intestine
30	chr10:27891400-27896600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr10:27891800-27893600	Weak transcription	Fetal Muscle Leg	muscle
32	chr10:27893600-27893800	Enhancers	Fetal Muscle Leg	muscle
33	chr10:27893800-27894200	Weak transcription	Fetal Muscle Leg	muscle
34	chr10:27894200-27895000	Enhancers	Ovary	ovary
35	chr10:27894200-27895600	Enhancers	Fetal Muscle Leg	muscle
36	chr10:27895600-27896600	Weak transcription	Fetal Muscle Leg	muscle
37	chr10:27896200-27897400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:27896400-27896800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr10:27896400-27897000	Enhancers	NHEK	skin
40	chr10:27896400-27897200	Enhancers	Duodenum Mucosa	Duodenum
41	chr10:27896400-27897800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:27896400-27898400	Enhancers	Stomach Mucosa	stomach
43	chr10:27896600-27896800	Enhancers	Gastric	stomach
44	chr10:27896600-27897000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr10:27896600-27897000	Enhancers	Fetal Muscle Leg	muscle
46	chr10:27896600-27897200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr10:27896600-27898200	Enhancers	Fetal Intestine Small	intestine
48	chr10:27896600-27898200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr10:27896800-27897000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr10:27896800-27899000	Weak transcription	Gastric	stomach

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