Variant report

Variant	nsv1032608
Chromosome Location	chr5:107627193-107671907
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:107637065..107639701-chr5:107665572..107668280,2	K562	blood:
2	chr5:107662350..107665061-chr5:107666147..107667939,2	MCF-7	breast:
3	chr5:107662350..107665061-chr5:107666147..107667939,2	MCF-7	breast:
4	chr5:107652768..107655007-chr5:107665345..107667956,2	K562	blood:
5	chr5:107629129..107630886-chr5:107639365..107641581,2	K562	blood:
6	chr5:107652768..107655007-chr5:107665345..107667956,2	K562	blood:
7	chr5:107637065..107639701-chr5:107665572..107668280,2	K562	blood:
8	chr5:107641389..107643591-chr5:107717199..107720025,2	MCF-7	breast:
9	chr5:107629129..107630886-chr5:107639365..107641581,2	K562	blood:
10	chr5:107630732..107633907-chr5:107716808..107719263,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145743	chromatin interactions

Extended variants
information (count: 1598 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1598 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4463170	chr5:107627193-107627194	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150949355	chr5:107627289-107627290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140814824	chr5:107627298-107627299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544579889	chr5:107627300-107627301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558399936	chr5:107627332-107627333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144567618	chr5:107627340-107627341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184294768	chr5:107627346-107627347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529936472	chr5:107627378-107627379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563861182	chr5:107627404-107627405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574398045	chr5:107627424-107627425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140633967	chr5:107627457-107627458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375043468	chr5:107627460-107627461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1965392	chr5:107627471-107627472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs559809403	chr5:107627475-107627476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528524989	chr5:107627481-107627482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551736101	chr5:107627525-107627526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139042475	chr5:107627585-107627586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530987499	chr5:107627647-107627648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570815769	chr5:107627684-107627685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139168088	chr5:107627716-107627717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187750736	chr5:107627720-107627721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372311638	chr5:107627748-107627749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536160784	chr5:107627788-107627789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111342340	chr5:107627827-107627828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540873079	chr5:107627828-107627829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34902962	chr5:107627840-107627841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140712767	chr5:107627852-107627853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150465848	chr5:107627884-107627885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138260404	chr5:107627892-107627893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558524341	chr5:107627920-107627921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575250635	chr5:107627947-107627948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376185080	chr5:107627958-107627959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535287872	chr5:107627960-107627961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370694640	chr5:107627979-107627980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149607687	chr5:107627983-107627984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557290196	chr5:107628010-107628011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574258711	chr5:107628042-107628043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543222524	chr5:107628108-107628109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547083195	chr5:107628120-107628121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191735158	chr5:107628139-107628140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183828253	chr5:107628156-107628157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144294403	chr5:107628175-107628176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530922883	chr5:107628189-107628190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551023925	chr5:107628221-107628222	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs561023542	chr5:107628224-107628225	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs140359439	chr5:107628249-107628250	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs560592665	chr5:107628265-107628266	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs188940899	chr5:107628278-107628279	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs111787041	chr5:107628301-107628302	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs184841481	chr5:107628359-107628360	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107604800-107644400	Weak transcription	Fetal Intestine Small	intestine
2	chr5:107615000-107705600	Weak transcription	Left Ventricle	heart
3	chr5:107615200-107660400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:107616800-107631200	Weak transcription	Stomach Mucosa	stomach
5	chr5:107618200-107628400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:107619600-107631200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:107620400-107640800	Weak transcription	Primary T cells from cord blood	blood
8	chr5:107620600-107678600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:107620800-107643600	Weak transcription	Primary B cells from cord blood	blood
10	chr5:107625400-107628200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:107625400-107630400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:107627000-107627200	Enhancers	Fetal Heart	heart
13	chr5:107627200-107627400	Weak transcription	Fetal Heart	heart
14	chr5:107628200-107628400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
15	chr5:107630200-107630400	Enhancers	Hela-S3	cervix
16	chr5:107630200-107632600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:107630200-107662600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:107630400-107631200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:107630400-107631400	Weak transcription	Hela-S3	cervix
20	chr5:107630400-107631600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:107630400-107632400	Enhancers	NHEK	skin
22	chr5:107631000-107631200	Enhancers	HMEC	breast
23	chr5:107631000-107631600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:107631200-107631600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:107631200-107631600	Enhancers	Brain Substantia Nigra	brain
26	chr5:107631200-107631600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:107631200-107631600	Enhancers	Small Intestine	intestine
28	chr5:107631200-107631600	Flanking Active TSS	HMEC	breast
29	chr5:107631200-107631800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:107631200-107631800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:107631200-107632000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:107631200-107632000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:107631200-107632000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:107631200-107632000	Enhancers	Stomach Mucosa	stomach
35	chr5:107631200-107632000	Enhancers	HSMM	muscle
36	chr5:107631200-107632200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:107631200-107632400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:107631200-107632400	Enhancers	HUVEC	blood vessel
39	chr5:107631200-107632400	Enhancers	NHDF-Ad	bronchial
40	chr5:107631200-107632600	Enhancers	Osteobl	bone
41	chr5:107631400-107631800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:107631400-107632000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:107631400-107632000	Enhancers	A549	lung
44	chr5:107631400-107632200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:107631400-107632400	Enhancers	Hela-S3	cervix
46	chr5:107631400-107632400	Enhancers	NHLF	lung
47	chr5:107631600-107632000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:107631600-107632000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr5:107631600-107632000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr5:107631600-107632400	Enhancers	HMEC	breast

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