Variant report

Variant	nsv5620
Chromosome Location	chr10:4787958-4814661
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:42)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:4554890..4555444-chr10:4808771..4809867,3	MCF-7	breast:
2	chr10:4806681..4808301-chr10:4809226..4811722,2	K562	blood:
3	chr10:4784994..4786876-chr10:4786961..4789839,2	MCF-7	breast:
4	chr10:4792029..4794907-chr10:4801335..4803906,2	K562	blood:
5	chr10:4800077..4802299-chr10:4803116..4805989,2	MCF-7	breast:
6	chr10:4790677..4792234-chr10:4794471..4797426,2	MCF-7	breast:
7	chr10:4790677..4792234-chr10:4794471..4797426,2	MCF-7	breast:
8	chr10:4750066..4750842-chr10:4808946..4809941,2	MCF-7	breast:
9	chr10:3239190..3242000-chr10:4813583..4815279,2	MCF-7	breast:
10	chr10:4698353..4699154-chr10:4807741..4808701,2	MCF-7	breast:
11	chr10:3263656..3264454-chr10:4808960..4809956,3	MCF-7	breast:
12	chr10:4792232..4793900-chr10:4802614..4804630,2	MCF-7	breast:
13	chr10:4806681..4808301-chr10:4809226..4811722,2	K562	blood:
14	chr10:4698483..4699453-chr10:4809245..4809818,3	MCF-7	breast:
15	chr10:3824350..3829771-chr10:4804720..4812479,10	MCF-7	breast:
16	chr10:4774392..4777197-chr10:4807926..4810361,3	MCF-7	breast:
17	chr10:4702931..4705070-chr10:4793409..4795730,2	MCF-7	breast:
18	chr10:4776186..4778404-chr10:4806346..4808208,2	MCF-7	breast:
19	chr10:4554314..4555272-chr10:4813439..4814001,3	MCF-7	breast:
20	chr10:4792029..4794907-chr10:4801335..4803906,2	K562	blood:
21	chr10:3827220..3830181-chr10:4813992..4816815,4	MCF-7	breast:
22	chr10:4555087..4556892-chr10:4807552..4809332,2	MCF-7	breast:
23	chr10:4703565..4707087-chr10:4805209..4809008,5	MCF-7	breast:
24	chr10:4792232..4793900-chr10:4802614..4804630,2	MCF-7	breast:
25	chr10:4750255..4751000-chr10:4808922..4809539,2	MCF-7	breast:
26	chr10:3827231..3829974-chr10:4812926..4814649,2	MCF-7	breast:
27	chr10:4780456..4782315-chr10:4789636..4791725,2	MCF-7	breast:
28	chr10:4701957..4706155-chr10:4806561..4810168,4	MCF-7	breast:
29	chr10:3239343..3240029-chr10:4812997..4813590,2	K562	blood:
30	chr10:3826248..3828816-chr10:4807305..4810810,4	MCF-7	breast:
31	chr10:3281540..3282316-chr10:4809203..4809758,2	K562	blood:
32	chr10:3819036..3823721-chr10:4807919..4810747,4	MCF-7	breast:
33	chr10:4800077..4802299-chr10:4803116..4805989,2	MCF-7	breast:
34	chr10:4704028..4707695-chr10:4796284..4798657,3	MCF-7	breast:
35	chr10:3825810..3829134-chr10:4810859..4812917,3	MCF-7	breast:
36	chr10:4775533..4777498-chr10:4789068..4791596,2	K562	blood:
37	chr10:4773770..4776982-chr10:4789881..4792527,4	MCF-7	breast:
38	chr10:3234867..3235622-chr10:4813074..4813988,2	MCF-7	breast:
39	chr10:3281560..3282415-chr10:4809344..4809847,2	MCF-7	breast:
40	chr10:3237571..3239598-chr10:4808607..4810524,2	MCF-7	breast:
41	chr10:4216562..4217072-chr10:4808946..4809872,2	MCF-7	breast:
42	chr10:3239645..3240233-chr10:4813020..4813750,2	MCF-7	breast:

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

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

No data

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

Extended variants
information (count: 1206 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1206 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181802287	chr10:4787987-4787988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111967941	chr10:4788008-4788009	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370891157	chr10:4788010-4788011	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397761827	chr10:4788012-4788013	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575860601	chr10:4788018-4788019	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112391459	chr10:4788043-4788044	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546415279	chr10:4788060-4788061	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376413571	chr10:4788067-4788068	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12570496	chr10:4788090-4788091	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs185394986	chr10:4788155-4788156	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547106570	chr10:4788167-4788168	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559274403	chr10:4788187-4788188	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141492419	chr10:4788191-4788192	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376338168	chr10:4788194-4788195	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569520608	chr10:4788230-4788231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138324495	chr10:4788267-4788268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72766384	chr10:4788268-4788269	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs79504876	chr10:4788280-4788281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376302165	chr10:4788315-4788316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553105318	chr10:4788319-4788320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112747872	chr10:4788341-4788342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574842860	chr10:4788359-4788360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375944614	chr10:4788369-4788370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11252700	chr10:4788374-4788375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10904331	chr10:4788376-4788377	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112791742	chr10:4788377-4788378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553569441	chr10:4788419-4788420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189915525	chr10:4788429-4788430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10904332	chr10:4788438-4788439	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536072919	chr10:4788474-4788475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72766385	chr10:4788478-4788479	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs75182257	chr10:4788479-4788480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575308771	chr10:4788488-4788489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182042806	chr10:4788498-4788499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530702284	chr10:4788508-4788509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530272677	chr10:4788527-4788528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543816131	chr10:4788528-4788529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563762519	chr10:4788533-4788534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547023840	chr10:4788548-4788549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568562648	chr10:4788554-4788555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144066112	chr10:4788597-4788598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557707697	chr10:4788611-4788612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577481910	chr10:4788674-4788675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116945159	chr10:4788700-4788701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540098708	chr10:4788722-4788723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202238990	chr10:4788725-4788726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560288595	chr10:4788737-4788738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540123423	chr10:4788751-4788752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560046342	chr10:4788755-4788756	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs186424630	chr10:4788771-4788772	Weak transcription Strong transcription	lncRNA	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4779200-4791200	Weak transcription	HMEC	breast
2	chr10:4783400-4793400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:4786600-4791400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr10:4787000-4793400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:4787600-4788400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:4787600-4788800	Strong transcription	NHDF-Ad	bronchial
7	chr10:4788000-4788200	Enhancers	Gastric	stomach
8	chr10:4788200-4790800	Weak transcription	Gastric	stomach
9	chr10:4788400-4791400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:4788800-4792400	Weak transcription	NHDF-Ad	bronchial
11	chr10:4790600-4791200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:4791000-4791600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:4791200-4791600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:4791200-4791600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:4791200-4791600	Enhancers	HMEC	breast
16	chr10:4791200-4791800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr10:4791400-4791600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:4791400-4791600	Enhancers	Ovary	ovary
19	chr10:4791400-4791800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:4791400-4792000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:4791600-4799400	Weak transcription	HMEC	breast
22	chr10:4791800-4797000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:4791800-4797800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:4792000-4799400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:4792400-4792600	Enhancers	NHDF-Ad	bronchial
26	chr10:4792600-4792800	Flanking Active TSS	NHDF-Ad	bronchial
27	chr10:4792600-4793200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:4792800-4793200	Enhancers	NHDF-Ad	bronchial
29	chr10:4793200-4797400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:4793200-4799400	Weak transcription	NHDF-Ad	bronchial
31	chr10:4793400-4793800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:4793400-4794000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:4793800-4797600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:4794000-4798600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:4796600-4798000	Enhancers	Fetal Heart	heart
36	chr10:4796600-4800200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:4797000-4798000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:4797400-4797600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:4797400-4797600	Weak transcription	Osteobl	bone
40	chr10:4797600-4797800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr10:4797600-4797800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr10:4797600-4797800	Enhancers	HSMM	muscle
43	chr10:4797600-4797800	Enhancers	Osteobl	bone
44	chr10:4797600-4798000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr10:4797600-4798000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:4797600-4798200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:4797800-4798200	Enhancers	Ovary	ovary
48	chr10:4797800-4799800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr10:4797800-4799800	Weak transcription	HSMM	muscle
50	chr10:4797800-4800000	Weak transcription	Muscle Satellite Cultured Cells	--

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