Variant report

Variant	nsv549880
Chromosome Location	chr10:4781029-4810561
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:39)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:4698353..4699154-chr10:4807741..4808701,2	MCF-7	breast:
2	chr10:4698483..4699453-chr10:4809245..4809818,3	MCF-7	breast:
3	chr10:4776438..4779204-chr10:4784394..4787058,3	MCF-7	breast:
4	chr10:4769753..4771628-chr10:4780321..4783062,2	MCF-7	breast:
5	chr10:4701957..4706155-chr10:4806561..4810168,4	MCF-7	breast:
6	chr10:4806681..4808301-chr10:4809226..4811722,2	K562	blood:
7	chr10:4750255..4751000-chr10:4808922..4809539,2	MCF-7	breast:
8	chr10:4774392..4777197-chr10:4807926..4810361,3	MCF-7	breast:
9	chr10:4775533..4777498-chr10:4789068..4791596,2	K562	blood:
10	chr10:4784994..4786876-chr10:4786961..4789839,2	MCF-7	breast:
11	chr10:4750066..4750842-chr10:4808946..4809941,2	MCF-7	breast:
12	chr10:3819036..3823721-chr10:4807919..4810747,4	MCF-7	breast:
13	chr10:3826248..3828816-chr10:4807305..4810810,4	MCF-7	breast:
14	chr10:4704028..4707695-chr10:4796284..4798657,3	MCF-7	breast:
15	chr10:4702931..4705070-chr10:4793409..4795730,2	MCF-7	breast:
16	chr10:4792232..4793900-chr10:4802614..4804630,2	MCF-7	breast:
17	chr10:4555087..4556892-chr10:4807552..4809332,2	MCF-7	breast:
18	chr10:4703565..4707087-chr10:4805209..4809008,5	MCF-7	breast:
19	chr10:4806681..4808301-chr10:4809226..4811722,2	K562	blood:
20	chr10:4780456..4782315-chr10:4789636..4791725,2	MCF-7	breast:
21	chr10:4773770..4776982-chr10:4789881..4792527,4	MCF-7	breast:
22	chr10:3281540..3282316-chr10:4809203..4809758,2	K562	blood:
23	chr10:3824350..3829771-chr10:4804720..4812479,10	MCF-7	breast:
24	chr10:4792029..4794907-chr10:4801335..4803906,2	K562	blood:
25	chr10:3281560..3282415-chr10:4809344..4809847,2	MCF-7	breast:
26	chr10:4780456..4782315-chr10:4789636..4791725,2	MCF-7	breast:
27	chr10:3237571..3239598-chr10:4808607..4810524,2	MCF-7	breast:
28	chr10:4784994..4786876-chr10:4786961..4789839,2	MCF-7	breast:
29	chr10:4790677..4792234-chr10:4794471..4797426,2	MCF-7	breast:
30	chr10:4790677..4792234-chr10:4794471..4797426,2	MCF-7	breast:
31	chr10:4792029..4794907-chr10:4801335..4803906,2	K562	blood:
32	chr10:4554890..4555444-chr10:4808771..4809867,3	MCF-7	breast:
33	chr10:3263656..3264454-chr10:4808960..4809956,3	MCF-7	breast:
34	chr10:4800077..4802299-chr10:4803116..4805989,2	MCF-7	breast:
35	chr10:4792232..4793900-chr10:4802614..4804630,2	MCF-7	breast:
36	chr10:4216562..4217072-chr10:4808946..4809872,2	MCF-7	breast:
37	chr10:4800077..4802299-chr10:4803116..4805989,2	MCF-7	breast:
38	chr10:4772925..4774982-chr10:4783375..4785130,2	MCF-7	breast:
39	chr10:4776186..4778404-chr10:4806346..4808208,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1C2-3	chr10:4806497-4808130	NONHSAT011114
2	lnc-AKR1C2-3	chr10:4789748-4790482	NONHSAT011114
3	lnc-AKR1C2-3	chr10:4804520-4804811	NONHSAT011114
4	lnc-AKR1C2-3	chr10:4808201-4808426	NONHSAT011114
5	lnc-AKR1C2-3	chr10:4790107-4790482	XLOC_008704
6	lnc-AKR1C2-3	chr10:4806162-4806211	XLOC_008704
7	lnc-AKR1C2-3	chr10:4806162-4806336	XLOC_008704
8	lnc-AKR1E2-6	chr10:4788753-4788977	NONHSAT011113
9	lnc-AKR1C2-3	chr10:4799185-4804058	NONHSAT011114
10	lnc-AKR1C2-3	chr10:4804573-4804725	XLOC_008704

No data

Variant related genes	Relation type
ENSG00000067082	chromatin interactions
ENSG00000231298	chromatin interactions
CEP350	miRNA target sites

Extended variants
information (count: 1352 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1352 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10508288	chr10:4781029-4781030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577674932	chr10:4781035-4781036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538941395	chr10:4781040-4781041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187250055	chr10:4781076-4781077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61830214	chr10:4781167-4781168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61830215	chr10:4781170-4781171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539798928	chr10:4781175-4781176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61830216	chr10:4781183-4781184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200503087	chr10:4781193-4781194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201488429	chr10:4781194-4781195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200483751	chr10:4781195-4781196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542846696	chr10:4781209-4781210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560909212	chr10:4781211-4781212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139336398	chr10:4781262-4781263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1869212	chr10:4781278-4781279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564952968	chr10:4781373-4781374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532332288	chr10:4781379-4781380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547691633	chr10:4781403-4781404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560043807	chr10:4781489-4781490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530320968	chr10:4781495-4781496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112579029	chr10:4781512-4781513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578007394	chr10:4781543-4781544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558604013	chr10:4781544-4781545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35198432	chr10:4781577-4781578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570121044	chr10:4781623-4781624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145556815	chr10:4781654-4781655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190346805	chr10:4781719-4781720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545143855	chr10:4781830-4781831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56989468	chr10:4781853-4781854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538683552	chr10:4781871-4781872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115604052	chr10:4781877-4781878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553674857	chr10:4781891-4781892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536133032	chr10:4781892-4781893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34160456	chr10:4781898-4781899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554773036	chr10:4781905-4781906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147731040	chr10:4781952-4781953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543519642	chr10:4781954-4781955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116154983	chr10:4782032-4782033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182607758	chr10:4782044-4782045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572237688	chr10:4782051-4782052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559474480	chr10:4782056-4782057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530453877	chr10:4782058-4782059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142050343	chr10:4782113-4782114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76596758	chr10:4782174-4782175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561066015	chr10:4782175-4782176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79969763	chr10:4782182-4782183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552799022	chr10:4782189-4782190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368554269	chr10:4782205-4782206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145897479	chr10:4782255-4782256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114218903	chr10:4782279-4782280	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	18451855	CNVD

Chromatin state (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4779200-4791200	Weak transcription	HMEC	breast
2	chr10:4779400-4784800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:4781400-4782000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:4781600-4782600	Enhancers	Fetal Lung	lung
5	chr10:4782000-4783000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr10:4782200-4783000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr10:4782200-4783400	Enhancers	NHDF-Ad	bronchial
8	chr10:4782400-4783000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:4782400-4783200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr10:4782400-4783800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:4782600-4784400	Weak transcription	Fetal Lung	lung
12	chr10:4782800-4783000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr10:4782800-4783200	Enhancers	Fetal Stomach	stomach
14	chr10:4782800-4783400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:4783000-4783400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr10:4783000-4784400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr10:4783000-4785600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:4783200-4783600	Weak transcription	Fetal Stomach	stomach
19	chr10:4783400-4786000	Weak transcription	NHDF-Ad	bronchial
20	chr10:4783400-4793400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:4783600-4783800	Enhancers	Fetal Stomach	stomach
22	chr10:4783800-4785600	Weak transcription	Fetal Stomach	stomach
23	chr10:4783800-4785800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:4784400-4784600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr10:4784400-4785000	Enhancers	Fetal Lung	lung
26	chr10:4784600-4786200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr10:4784800-4787000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:4785600-4786200	Enhancers	Fetal Stomach	stomach
29	chr10:4785600-4786600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr10:4785800-4786000	Enhancers	Ovary	ovary
31	chr10:4785800-4786800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:4786000-4787200	Strong transcription	NHDF-Ad	bronchial
33	chr10:4786600-4791400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:4786800-4787600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:4787000-4793400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:4787200-4787600	Weak transcription	NHDF-Ad	bronchial
37	chr10:4787600-4788400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:4787600-4788800	Strong transcription	NHDF-Ad	bronchial
39	chr10:4788000-4788200	Enhancers	Gastric	stomach
40	chr10:4788200-4790800	Weak transcription	Gastric	stomach
41	chr10:4788400-4791400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:4788800-4792400	Weak transcription	NHDF-Ad	bronchial
43	chr10:4790600-4791200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:4791000-4791600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr10:4791200-4791600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:4791200-4791600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr10:4791200-4791600	Enhancers	HMEC	breast
48	chr10:4791200-4791800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:4791400-4791600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr10:4791400-4791600	Enhancers	Ovary	ovary

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