Variant report

Variant	nsv883234
Chromosome Location	chr5:178686438-178728830
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178687965..178688655-chr5:178920708..178921301,2	K562	blood:
2	chr5:178698907..178700648-chr5:178703533..178706246,2	MCF-7	breast:
3	chr5:178698907..178700648-chr5:178703533..178706246,2	MCF-7	breast:
4	chr5:178570203..178571201-chr5:178687913..178688718,3	MCF-7	breast:
5	chr5:178639660..178640480-chr5:178701010..178701947,3	MCF-7	breast:
6	chr5:178219952..178220766-chr5:178688074..178688887,3	MCF-7	breast:
7	chr5:178719721..178723694-chr5:178743933..178746463,3	K562	blood:
8	chr5:178694614..178696474-chr5:178699270..178701166,2	K562	blood:
9	chr5:178639654..178640533-chr5:178687929..178688900,5	MCF-7	breast:
10	chr5:178545417..178547035-chr5:178698975..178701216,2	K562	blood:
11	chr5:178694614..178696474-chr5:178699270..178701166,2	K562	blood:
12	chr5:178694614..178696834-chr5:178698467..178700770,2	K562	blood:
13	chr5:178593807..178594987-chr5:178687910..178688845,5	MCF-7	breast:
14	chr5:178694647..178697268-chr5:179049140..179050881,2	MCF-7	breast:
15	chr5:178688082..178688899-chr5:178920410..178921212,2	MCF-7	breast:
16	chr5:178694614..178696834-chr5:178698467..178700770,2	K562	blood:
17	chr5:178570556..178571105-chr5:178687987..178688905,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169045	chromatin interactions

Extended variants
information (count: 2071 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2071 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs340125	chr5:178686438-178686439	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35996372	chr5:178686446-178686447	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560507211	chr5:178686511-178686512	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs566957842	chr5:178686519-178686520	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs539913038	chr5:178686520-178686521	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs559713393	chr5:178686521-178686522	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs371627387	chr5:178686543-178686544	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs34756026	chr5:178686565-178686566	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs340124	chr5:178686590-178686591	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188859428	chr5:178686599-178686600	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs149165051	chr5:178686623-178686624	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs340123	chr5:178686624-178686625	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528609237	chr5:178686625-178686626	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs35870414	chr5:178686645-178686646	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571627402	chr5:178686660-178686661	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs538871028	chr5:178686669-178686670	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs556867758	chr5:178686686-178686687	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs538513837	chr5:178686698-178686699	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs568819106	chr5:178686744-178686745	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs536095539	chr5:178686772-178686773	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs192470676	chr5:178686775-178686776	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs572472618	chr5:178686794-178686795	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs184476835	chr5:178686811-178686812	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs558729069	chr5:178686835-178686836	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs558649453	chr5:178686924-178686925	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs173104	chr5:178686928-178686929	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs545626359	chr5:178686944-178686945	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs117540184	chr5:178686957-178686958	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs531237188	chr5:178686963-178686964	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs543318506	chr5:178686971-178686972	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs561547831	chr5:178687040-178687041	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs73809742	chr5:178687043-178687044	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs546673284	chr5:178687059-178687060	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs571752021	chr5:178687062-178687063	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs532459028	chr5:178687068-178687069	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs116537373	chr5:178687113-178687114	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs568682273	chr5:178687130-178687131	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs207466644	chr5:178687195-178687196	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs75046336	chr5:178687246-178687247	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs554478230	chr5:178687253-178687254	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs566408760	chr5:178687254-178687255	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs531561534	chr5:178687257-178687258	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs555087442	chr5:178687271-178687272	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs576882711	chr5:178687283-178687284	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs574928668	chr5:178687299-178687300	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs188876832	chr5:178687311-178687312	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs548612913	chr5:178687322-178687323	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs114271446	chr5:178687324-178687325	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs567556062	chr5:178687329-178687330	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs114810759	chr5:178687331-178687332	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1110 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178670000-178691800	Weak transcription	Right Atrium	heart
2	chr5:178682800-178688000	Enhancers	Ovary	ovary
3	chr5:178683400-178687000	Enhancers	Fetal Stomach	stomach
4	chr5:178683800-178687200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr5:178684000-178687200	Enhancers	Fetal Muscle Leg	muscle
6	chr5:178684200-178686800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:178684200-178687600	Enhancers	Adipose Nuclei	Adipose
8	chr5:178684200-178688200	Weak transcription	Placenta	Placenta
9	chr5:178684600-178687400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:178684600-178691000	Weak transcription	NHDF-Ad	bronchial
11	chr5:178684800-178686600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:178684800-178687400	Enhancers	NHLF	lung
13	chr5:178685200-178687000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:178685200-178688000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:178685400-178690600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:178685600-178687000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:178685800-178686600	Enhancers	Spleen	Spleen
18	chr5:178685800-178686800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:178685800-178688000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:178685800-178689200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr5:178685800-178691800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:178686000-178686600	Enhancers	HSMMtube	muscle
23	chr5:178686000-178687200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:178686000-178687200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:178686200-178686600	Enhancers	Osteobl	bone
26	chr5:178686200-178686800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:178686200-178687200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:178686200-178687600	Enhancers	HSMM	muscle
29	chr5:178686200-178687800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:178686400-178686800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:178686400-178686800	Enhancers	Fetal Lung	lung
32	chr5:178686600-178686800	Enhancers	Lung	lung
33	chr5:178686600-178686800	Enhancers	Right Ventricle	heart
34	chr5:178686600-178687400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:178686600-178687800	Genic enhancers	Osteobl	bone
36	chr5:178686600-178688000	Genic enhancers	HSMMtube	muscle
37	chr5:178686800-178687200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:178686800-178687200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:178686800-178687800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:178686800-178688600	Weak transcription	Spleen	Spleen
41	chr5:178686800-178691600	Weak transcription	Fetal Lung	lung
42	chr5:178686800-178691800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:178686800-178691800	Weak transcription	Gastric	stomach
44	chr5:178687000-178687600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:178687000-178687800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr5:178687000-178688000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:178687000-178688400	Genic enhancers	Fetal Stomach	stomach
48	chr5:178687000-178688600	Weak transcription	Lung	lung
49	chr5:178687200-178687400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:178687200-178687600	Genic enhancers	Fetal Muscle Leg	muscle

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