Variant report

Variant	nsv549870
Chromosome Location	chr10:4708627-4715476
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:2)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:4714435..4717243-chr10:4717743..4721337,3	MCF-7	breast:
2	chr10:4711824..4713897-chr10:4774936..4777024,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1C2-9	chr10:4710241-4710324	NONHSAT011104
2	lnc-AKR1E2-7	chr10:4713638-4713851	NONHSAT011111
3	lnc-AKR1C2-9	chr10:4710241-4710346	NONHSAT011102
4	lnc-AKR1E2-7	chr10:4713638-4713851	FPKM1_group_2824_transcript_1
5	lnc-AKR1E2-7	chr10:4713568-4713851	NONHSAT011110
6	lnc-AKR1C2-9	chr10:4710241-4710262	l_243_NR_024475

No data

Variant related genes	Relation type
ENSG00000231298	chromatin interactions

Extended variants
information (count: 244 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191013276	chr10:4708804-4708805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555641895	chr10:4708894-4708895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs446051	chr10:4708990-4708991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150462782	chr10:4709007-4709008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575798439	chr10:4709033-4709034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111522465	chr10:4709076-4709077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537732310	chr10:4709278-4709279	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113241325	chr10:4709335-4709336	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs74662414	chr10:4709339-4709340	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs577864390	chr10:4709366-4709367	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs145329094	chr10:4709432-4709433	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs553568830	chr10:4709510-4709511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs149228617	chr10:4709519-4709520	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs448015	chr10:4709580-4709581	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs385204	chr10:4709584-4709585	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs116723018	chr10:4709616-4709617	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs543898227	chr10:4709639-4709640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs544576128	chr10:4709789-4709790	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs543757607	chr10:4709974-4709975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565524795	chr10:4709979-4709980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113386614	chr10:4710046-4710047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562643081	chr10:4710048-4710049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113761903	chr10:4710083-4710084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558470076	chr10:4710109-4710110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557468874	chr10:4710224-4710225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114679717	chr10:4710252-4710253	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs182933672	chr10:4710266-4710267	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs527356908	chr10:4710296-4710297	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs549094372	chr10:4710310-4710311	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs452660	chr10:4710352-4710353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs442878	chr10:4710359-4710360	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs373650868	chr10:4710369-4710370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397161	chr10:4710381-4710382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537892647	chr10:4710402-4710403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs432395	chr10:4710459-4710460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370923498	chr10:4710520-4710521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374522817	chr10:4710522-4710523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs395653	chr10:4710568-4710569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571486623	chr10:4710594-4710595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538570189	chr10:4710706-4710707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553532064	chr10:4710729-4710730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560159193	chr10:4710815-4710816	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116333298	chr10:4710840-4710841	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187477254	chr10:4710841-4710842	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555093219	chr10:4710858-4710859	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576464205	chr10:4710896-4710897	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115429792	chr10:4710937-4710938	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190443028	chr10:4710942-4710943	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532825526	chr10:4710957-4710958	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs505723	chr10:4710965-4710966	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4707000-4710000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr10:4707000-4710800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr10:4707000-4713000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:4707400-4712600	Weak transcription	Osteobl	bone
5	chr10:4707600-4712200	Weak transcription	HMEC	breast
6	chr10:4707600-4712800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr10:4707800-4709200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:4707800-4712800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr10:4707800-4713200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr10:4708000-4712800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:4708000-4713000	Weak transcription	HSMM	muscle
12	chr10:4708200-4712600	Weak transcription	NHDF-Ad	bronchial
13	chr10:4708600-4713000	Weak transcription	HUVEC	blood vessel
14	chr10:4709200-4709800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:4709800-4713200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:4710000-4710400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:4710400-4710800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:4710800-4711000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr10:4710800-4711400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr10:4711200-4711600	Weak transcription	A549	lung
21	chr10:4711400-4711600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:4711600-4712600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:4712200-4713200	Enhancers	HMEC	breast
24	chr10:4712200-4713200	Enhancers	NHEK	skin
25	chr10:4712400-4713000	Enhancers	A549	lung
26	chr10:4712600-4713400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:4712600-4713600	Enhancers	Osteobl	bone
28	chr10:4712600-4714000	Enhancers	NHDF-Ad	bronchial
29	chr10:4712600-4716200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:4712800-4713400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:4712800-4713600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr10:4712800-4714800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:4713000-4713200	Enhancers	NHLF	lung
34	chr10:4713000-4713600	Enhancers	NH-A	brain
35	chr10:4713000-4713800	Flanking Active TSS	A549	lung
36	chr10:4713000-4714000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr10:4713000-4714200	Strong transcription	HUVEC	blood vessel
38	chr10:4713000-4714400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:4713000-4714600	Enhancers	HSMM	muscle
40	chr10:4713000-4715000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr10:4713000-4715400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr10:4713000-4715400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr10:4713000-4715600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr10:4713200-4713400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr10:4713200-4713400	Enhancers	Rectal Smooth Muscle	rectum
46	chr10:4713200-4713800	Weak transcription	NHLF	lung
47	chr10:4713200-4714000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr10:4713200-4714000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr10:4713200-4714400	Flanking Active TSS	HMEC	breast
50	chr10:4713200-4714600	Enhancers	HSMMtube	muscle

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