Variant report

Variant	nsv592147
Chromosome Location	chr3:161854718-161945111
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:161912205..161913851-chr3:161915372..161917962,2	K562	blood:
2	chr18:46065653..46068289-chr3:161888180..161889783,2	MCF-7	breast:
3	chr3:161913261..161915799-chr3:161918135..161919894,2	K562	blood:
4	chr3:161880353..161883134-chr3:161894070..161896334,2	K562	blood:
5	chr3:161913261..161915799-chr3:161918135..161919894,2	K562	blood:
6	chr3:161912205..161913851-chr3:161915372..161917962,2	K562	blood:
7	chr3:161880353..161883134-chr3:161894070..161896334,2	K562	blood:
8	chr13:34833062..34833562-chr3:161876754..161877328,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134030	chromatin interactions

Extended variants
information (count: 2128 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2128 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2221756	chr3:161854718-161854719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13089199	chr3:161854728-161854729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs35884284	chr3:161854750-161854751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531539428	chr3:161854770-161854771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138371199	chr3:161854831-161854832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538575861	chr3:161854852-161854853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182789113	chr3:161854876-161854877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149185346	chr3:161854894-161854895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143358843	chr3:161854896-161854897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554422813	chr3:161854926-161854927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575009936	chr3:161854942-161854943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543905157	chr3:161854986-161854987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535023217	chr3:161855008-161855009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148367238	chr3:161855103-161855104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546223523	chr3:161855165-161855166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568105091	chr3:161855168-161855169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188301068	chr3:161855201-161855202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553097880	chr3:161855212-161855213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548766722	chr3:161855235-161855236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562112294	chr3:161855237-161855238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529755036	chr3:161855266-161855267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577851328	chr3:161855277-161855278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141586058	chr3:161855351-161855352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192887120	chr3:161855373-161855374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569359592	chr3:161855426-161855427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531971498	chr3:161855459-161855460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34774985	chr3:161855500-161855501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs17749973	chr3:161855501-161855502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs116114979	chr3:161855514-161855515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183056132	chr3:161855533-161855534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62278994	chr3:161855538-161855539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568249129	chr3:161855539-161855540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570545369	chr3:161855564-161855565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34850744	chr3:161855573-161855574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527262239	chr3:161855578-161855579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114654308	chr3:161855676-161855677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576633174	chr3:161855698-161855699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544110114	chr3:161855820-161855821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557485460	chr3:161855862-161855863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577349713	chr3:161855871-161855872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546185968	chr3:161855882-161855883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553044185	chr3:161855900-161855901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573501473	chr3:161855911-161855912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147340084	chr3:161855924-161855925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187686301	chr3:161855925-161855926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115649722	chr3:161856004-161856005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80012778	chr3:161856030-161856031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563054951	chr3:161856042-161856043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192647620	chr3:161856064-161856065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552174275	chr3:161856082-161856083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161850400-161856200	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:161851200-161859000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:161852600-161857800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:161852800-161857800	Weak transcription	Osteobl	bone
5	chr3:161854400-161855800	Weak transcription	Fetal Heart	heart
6	chr3:161855800-161857000	Enhancers	Fetal Heart	heart
7	chr3:161856200-161856800	Enhancers	Stomach Smooth Muscle	stomach
8	chr3:161856200-161858200	Enhancers	Colon Smooth Muscle	Colon
9	chr3:161856400-161856600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:161856400-161856600	Enhancers	Aorta	Aorta
11	chr3:161856600-161857400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:161857400-161857600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:161857400-161861400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:161857600-161858000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:161857600-161858200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:161857600-161862200	Enhancers	HSMM	muscle
17	chr3:161857600-161862400	Enhancers	NHDF-Ad	bronchial
18	chr3:161857800-161858000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:161857800-161858200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:161857800-161858600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:161857800-161861600	Enhancers	Osteobl	bone
22	chr3:161858000-161858800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:161858000-161861200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:161858200-161858600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:161858200-161858600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:161858200-161863800	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:161858600-161859600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:161858600-161860600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:161858600-161861400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:161858800-161859200	Enhancers	NHLF	lung
31	chr3:161858800-161859600	Enhancers	HSMMtube	muscle
32	chr3:161858800-161860400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:161858800-161860800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:161858800-161861000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:161858800-161861200	Enhancers	NH-A	brain
36	chr3:161859000-161859200	Enhancers	Rectal Smooth Muscle	rectum
37	chr3:161859200-161860200	Weak transcription	NHLF	lung
38	chr3:161859600-161860400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:161859800-161860600	Enhancers	HMEC	breast
40	chr3:161860200-161860400	Enhancers	NHLF	lung
41	chr3:161860400-161861400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:161861400-161862400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr3:161861600-161861800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:161862200-161862600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:161862400-161862600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr3:161863800-161864000	Enhancers	Colon Smooth Muscle	Colon
47	chr3:161865600-161867000	Enhancers	Dnd41	blood
48	chr3:161869800-161871400	Enhancers	Fetal Intestine Large	intestine
49	chr3:161870400-161870800	Enhancers	Fetal Intestine Small	intestine
50	chr3:161874000-161874400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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