Variant report

Variant	nsv1040924
Chromosome Location	chr10:4734176-4765606
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:4761299..4763015-chr10:4768874..4771030,2	MCF-7	breast:
2	chr10:4755644..4758600-chr10:4771458..4775499,3	MCF-7	breast:
3	chr10:4748910..4750501-chr10:4752014..4754640,2	MCF-7	breast:
4	chr10:4761048..4762741-chr10:4773026..4775022,2	MCF-7	breast:
5	chr10:3826429..3828758-chr10:4745718..4747799,3	MCF-7	breast:
6	chr10:4736950..4739403-chr10:4766612..4768471,2	MCF-7	breast:
7	chr10:4704812..4707104-chr10:4757845..4760690,2	MCF-7	breast:
8	chr10:4747123..4749970-chr10:4761005..4763536,2	MCF-7	breast:
9	chr10:4748910..4750501-chr10:4752014..4754640,2	MCF-7	breast:
10	chr10:4750255..4751000-chr10:4808922..4809539,2	MCF-7	breast:
11	chr10:4747185..4748870-chr10:4771156..4773442,2	K562	blood:
12	chr10:3825706..3827439-chr10:4735235..4737929,2	MCF-7	breast:
13	chr10:4750066..4750842-chr10:4808946..4809941,2	MCF-7	breast:
14	chr10:4748152..4751115-chr10:4763204..4765462,2	MCF-7	breast:
15	chr10:4762462..4764175-chr10:5930506..5933005,2	MCF-7	breast:
16	chr10:4745705..4748362-chr10:4752055..4753652,2	MCF-7	breast:
17	chr10:4705429..4707304-chr10:4750266..4753221,2	MCF-7	breast:
18	chr10:4752926..4755618-chr10:4756217..4757722,2	MCF-7	breast:
19	chr10:4748341..4750852-chr10:4751570..4754263,3	MCF-7	breast:
20	chr10:3930146..3932145-chr10:4764376..4766364,2	MCF-7	breast:
21	chr10:4474893..4476765-chr10:4763931..4766693,2	MCF-7	breast:
22	chr10:4761428..4765181-chr10:4774344..4777654,4	MCF-7	breast:
23	chr10:4702583..4705681-chr10:4760032..4763003,3	MCF-7	breast:
24	chr10:4735130..4738619-chr10:4739106..4741935,3	MCF-7	breast:
25	chr10:4752926..4755618-chr10:4756217..4757722,2	MCF-7	breast:
26	chr10:4733738..4735615-chr10:4753440..4756163,2	MCF-7	breast:
27	chr10:4747123..4749970-chr10:4761005..4763536,2	MCF-7	breast:
28	chr10:4750679..4752473-chr10:4773758..4775302,2	MCF-7	breast:
29	chr10:4748152..4751115-chr10:4763204..4765462,2	MCF-7	breast:
30	chr10:4726532..4729778-chr10:4736353..4738324,3	MCF-7	breast:
31	chr10:4719315..4721499-chr10:4746164..4748837,2	MCF-7	breast:
32	chr10:4755976..4758860-chr10:4759457..4761434,2	K562	blood:
33	chr10:4735130..4738619-chr10:4739106..4741935,3	MCF-7	breast:
34	chr10:4701367..4707262-chr10:4764196..4772300,19	MCF-7	breast:
35	chr10:4733738..4735615-chr10:4753440..4756163,2	MCF-7	breast:
36	chr10:4697620..4699512-chr10:4764782..4768202,3	MCF-7	breast:
37	chr10:4755976..4758860-chr10:4759457..4761434,2	K562	blood:
38	chr10:4765059..4767680-chr10:4773650..4775608,2	MCF-7	breast:
39	chr10:4732777..4735485-chr10:4736760..4739482,3	MCF-7	breast:
40	chr10:4745705..4748362-chr10:4752055..4753652,2	MCF-7	breast:
41	chr10:4748341..4750852-chr10:4751570..4754263,3	MCF-7	breast:
42	chr10:4703699..4707665-chr10:4763385..4769263,9	MCF-7	breast:
43	chr10:4728591..4731075-chr10:4749795..4752617,2	K562	blood:
44	chr10:4732777..4735485-chr10:4736760..4739482,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134452	chromatin interactions
ENSG00000067082	chromatin interactions
ENSG00000231298	chromatin interactions
ENSG00000134461	chromatin interactions

Extended variants
information (count: 1304 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1304 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374796933	chr10:4734254-4734255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548315254	chr10:4734255-4734256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs66781108	chr10:4734260-4734261	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566670462	chr10:4734280-4734281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376851062	chr10:4734285-4734286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs68036543	chr10:4734292-4734293	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570760730	chr10:4734304-4734305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61830199	chr10:4734320-4734321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs60861384	chr10:4734349-4734350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143196388	chr10:4734361-4734362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368157569	chr10:4734363-4734364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559898939	chr10:4734366-4734367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57811075	chr10:4734367-4734368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61701600	chr10:4734373-4734374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12049719	chr10:4734378-4734379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112924260	chr10:4734382-4734383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369090276	chr10:4734398-4734399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59102117	chr10:4734406-4734407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141152874	chr10:4734408-4734409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528781160	chr10:4734419-4734420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60554200	chr10:4734457-4734458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs58261631	chr10:4734467-4734468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59517981	chr10:4734469-4734470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58763230	chr10:4734475-4734476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11252664	chr10:4734476-4734477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs118071224	chr10:4734480-4734481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143164157	chr10:4734484-4734485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200560629	chr10:4734488-4734489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71391963	chr10:4734491-4734492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61226788	chr10:4734492-4734493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115775729	chr10:4734582-4734583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150747755	chr10:4734608-4734609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537816185	chr10:4734653-4734654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1036953	chr10:4734664-4734665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188805274	chr10:4734689-4734690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541241571	chr10:4734694-4734695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373004612	chr10:4734721-4734722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574865589	chr10:4734725-4734726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79971733	chr10:4734755-4734756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563574012	chr10:4734763-4734764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554082082	chr10:4734780-4734781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192890047	chr10:4734797-4734798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs313431	chr10:4734806-4734807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116893376	chr10:4734808-4734809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542837905	chr10:4734820-4734821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528630238	chr10:4734859-4734860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115433917	chr10:4734860-4734861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565750128	chr10:4734865-4734866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536002007	chr10:4734897-4734898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139074654	chr10:4734899-4734900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4728200-4735600	Weak transcription	Psoas Muscle	Psoas
2	chr10:4728200-4738000	Weak transcription	Fetal Muscle Leg	muscle
3	chr10:4733000-4734800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:4733200-4734200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:4733200-4734800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr10:4733200-4735000	Enhancers	NHEK	skin
7	chr10:4733400-4735000	Enhancers	HMEC	breast
8	chr10:4733600-4734200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:4733600-4734200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:4733600-4734200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:4733600-4734400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:4733600-4734600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:4733600-4734800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr10:4733600-4734800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr10:4733600-4734800	Enhancers	NH-A	brain
16	chr10:4733600-4735000	Enhancers	Osteobl	bone
17	chr10:4733800-4734200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr10:4733800-4734200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:4733800-4734400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr10:4733800-4734400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr10:4733800-4734400	Enhancers	Stomach Mucosa	stomach
22	chr10:4733800-4734400	Enhancers	A549	lung
23	chr10:4733800-4734400	Enhancers	Hela-S3	cervix
24	chr10:4733800-4734400	Enhancers	NHDF-Ad	bronchial
25	chr10:4733800-4734800	Enhancers	HSMM	muscle
26	chr10:4733800-4735000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr10:4734000-4734400	Enhancers	NHLF	lung
28	chr10:4734200-4745800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:4734400-4742800	Weak transcription	NHLF	lung
30	chr10:4734400-4743200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:4734600-4742800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:4734800-4736400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr10:4734800-4740200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr10:4734800-4740200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:4734800-4745600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:4735000-4740200	Weak transcription	HMEC	breast
37	chr10:4735000-4746000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:4735600-4736400	Enhancers	Psoas Muscle	Psoas
39	chr10:4736000-4736800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr10:4736400-4736800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr10:4736400-4746400	Weak transcription	Psoas Muscle	Psoas
42	chr10:4736400-4746400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr10:4738000-4738600	Enhancers	Fetal Muscle Leg	muscle
44	chr10:4738200-4738400	Enhancers	Right Atrium	heart
45	chr10:4738400-4755600	Weak transcription	Right Atrium	heart
46	chr10:4738600-4739000	Weak transcription	Fetal Muscle Leg	muscle
47	chr10:4739000-4740600	Enhancers	Fetal Muscle Leg	muscle
48	chr10:4739200-4741800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr10:4740200-4740600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:4740200-4740600	Enhancers	Muscle Satellite Cultured Cells	--

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