Variant report

Variant	nsv525814
Chromosome Location	chr3:88085633-88091543
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:88091266..88093001-chr3:88095928..88097970,3	K562	blood:
2	chr3:88083923..88086770-chr3:88102079..88103934,2	K562	blood:
3	chr3:88090636..88092766-chr3:88106492..88108052,2	MCF-7	breast:
4	chr3:88087550..88089989-chr3:88107384..88108978,2	MCF-7	breast:
5	chr3:88079170..88082380-chr3:88083202..88085793,3	MCF-7	breast:
6	chr3:88090384..88092105-chr3:88098144..88100767,2	K562	blood:
7	chr3:88089281..88093496-chr3:88099183..88102618,6	MCF-7	breast:
8	chr3:88090306..88092592-chr3:88101405..88103532,2	K562	blood:
9	chr3:88085983..88088623-chr3:88097073..88098808,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229729	chromatin interactions
ENSG00000163320	chromatin interactions

Extended variants
information (count: 216 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:216 , 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	rs6785333	chr3:88085633-88085634	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371749334	chr3:88085637-88085638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535352855	chr3:88085644-88085645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186277505	chr3:88085648-88085649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565845593	chr3:88085653-88085654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535682483	chr3:88085787-88085788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73144053	chr3:88085826-88085827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191523644	chr3:88085829-88085830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151270993	chr3:88085875-88085876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572220634	chr3:88085893-88085894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183091906	chr3:88085930-88085931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139098405	chr3:88085946-88085947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72509715	chr3:88085947-88085948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370003863	chr3:88085948-88085949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556554930	chr3:88085949-88085950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57330468	chr3:88085961-88085962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140467487	chr3:88085970-88085971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542522143	chr3:88086016-88086017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189878816	chr3:88086020-88086021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577572083	chr3:88086025-88086026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183214951	chr3:88086039-88086040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546054092	chr3:88086093-88086094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564706800	chr3:88086113-88086114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566928854	chr3:88086117-88086118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531265955	chr3:88086161-88086162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549505889	chr3:88086175-88086176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543014576	chr3:88086204-88086205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567715723	chr3:88086286-88086287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374339838	chr3:88086318-88086319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188056736	chr3:88086386-88086387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372388921	chr3:88086412-88086413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565800218	chr3:88086484-88086485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374733973	chr3:88086496-88086497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149982781	chr3:88086507-88086508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146533717	chr3:88086515-88086516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192100403	chr3:88086583-88086584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185397157	chr3:88086584-88086585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9880480	chr3:88086586-88086587	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535449352	chr3:88086627-88086628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554161921	chr3:88086632-88086633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572605869	chr3:88086634-88086635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4475062	chr3:88086662-88086663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571522201	chr3:88086682-88086683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9880368	chr3:88086690-88086691	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576276636	chr3:88086703-88086704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543091283	chr3:88086727-88086728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561480264	chr3:88086808-88086809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528970575	chr3:88086813-88086814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4616669	chr3:88086823-88086824	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559301388	chr3:88086825-88086826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88081600-88086800	Weak transcription	Psoas Muscle	Psoas
2	chr3:88081800-88087000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:88081800-88087000	Weak transcription	NHEK	skin
4	chr3:88081800-88091200	Weak transcription	Right Atrium	heart
5	chr3:88082200-88086600	Weak transcription	NHDF-Ad	bronchial
6	chr3:88082400-88087800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:88084000-88086200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:88084000-88086600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:88084000-88086600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:88084000-88086800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:88085200-88089000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:88085400-88088000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:88085600-88087000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:88086000-88087600	Weak transcription	HSMM	muscle
15	chr3:88086200-88086400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:88086400-88086800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:88086400-88087800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:88086600-88087200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:88086600-88088600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:88086600-88089000	Enhancers	NHDF-Ad	bronchial
21	chr3:88086800-88087600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:88086800-88089000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:88087000-88087800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:88087000-88088400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:88087000-88088400	Enhancers	HMEC	breast
26	chr3:88087000-88088400	Enhancers	NHEK	skin
27	chr3:88087200-88087600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:88087200-88088600	Enhancers	Osteobl	bone
29	chr3:88087400-88087800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:88087400-88088000	Enhancers	Fetal Heart	heart
31	chr3:88087600-88088200	Enhancers	HSMM	muscle
32	chr3:88087600-88088400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:88087600-88088400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:88087600-88088400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:88087600-88090600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:88087800-88088000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:88087800-88088200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:88087800-88088400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:88088000-88088400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr3:88088000-88092800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:88088400-88089000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:88088400-88104200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:88089000-88102800	Weak transcription	NHDF-Ad	bronchial
44	chr3:88089200-88093000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr3:88090600-88095000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:88091200-88104600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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