Variant report

Variant	nsv1019657
Chromosome Location	chr5:107629430-107677211
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:107674221..107676262-chr5:107681301..107685297,3	K562	blood:
2	chr5:107652768..107655007-chr5:107665345..107667956,2	K562	blood:
3	chr5:107673625..107675150-chr5:107717919..107720038,2	K562	blood:
4	chr5:107637065..107639701-chr5:107665572..107668280,2	K562	blood:
5	chr5:107652768..107655007-chr5:107665345..107667956,2	K562	blood:
6	chr5:107629129..107630886-chr5:107639365..107641581,2	K562	blood:
7	chr5:107662350..107665061-chr5:107666147..107667939,2	MCF-7	breast:
8	chr5:107630732..107633907-chr5:107716808..107719263,3	MCF-7	breast:
9	chr5:107637065..107639701-chr5:107665572..107668280,2	K562	blood:
10	chr5:107641389..107643591-chr5:107717199..107720025,2	MCF-7	breast:
11	chr5:107662350..107665061-chr5:107666147..107667939,2	MCF-7	breast:
12	chr5:107629129..107630886-chr5:107639365..107641581,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145743	chromatin interactions

Extended variants
information (count: 1681 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1681 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187629966	chr5:107629431-107629432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373201141	chr5:107629462-107629463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568024646	chr5:107629468-107629469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544059461	chr5:107629477-107629478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527403045	chr5:107629507-107629508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547542862	chr5:107629539-107629540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375040473	chr5:107629571-107629572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372696791	chr5:107629615-107629616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35840134	chr5:107629617-107629618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573759293	chr5:107629632-107629633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552613428	chr5:107629633-107629634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552729377	chr5:107629637-107629638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368766685	chr5:107629641-107629642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34683385	chr5:107629655-107629656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574366924	chr5:107629674-107629675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191903003	chr5:107629691-107629692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538111559	chr5:107629711-107629712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372856159	chr5:107629744-107629745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71624893	chr5:107629745-107629746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554562232	chr5:107629790-107629791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574466137	chr5:107629825-107629826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533913994	chr5:107629828-107629829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183907478	chr5:107629854-107629855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187617242	chr5:107629910-107629911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546026312	chr5:107629915-107629916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541609700	chr5:107629926-107629927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150778522	chr5:107629932-107629933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35577854	chr5:107629966-107629967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35017761	chr5:107629977-107629978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191092494	chr5:107629991-107629992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34890757	chr5:107629993-107629994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397882564	chr5:107629994-107629995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200822686	chr5:107629995-107629996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192230822	chr5:107630062-107630063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185083014	chr5:107630168-107630169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190129788	chr5:107630170-107630171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564250741	chr5:107630188-107630189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35697232	chr5:107630220-107630221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193115217	chr5:107630274-107630275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530485253	chr5:107630316-107630317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139157744	chr5:107630399-107630400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546000398	chr5:107630478-107630479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10045002	chr5:107630494-107630495	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs569320521	chr5:107630499-107630500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149921316	chr5:107630532-107630533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569275727	chr5:107630545-107630546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568399630	chr5:107630566-107630567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533973463	chr5:107630568-107630569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538155293	chr5:107630582-107630583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114682642	chr5:107630591-107630592	Enhancers Weak transcription	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:188 , 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	chr5:107619600-107631200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:107620400-107640800	Weak transcription	Primary T cells from cord blood	blood
7	chr5:107620600-107678600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:107620800-107643600	Weak transcription	Primary B cells from cord blood	blood
9	chr5:107625400-107630400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:107630200-107630400	Enhancers	Hela-S3	cervix
11	chr5:107630200-107632600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:107630200-107662600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:107630400-107631200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:107630400-107631400	Weak transcription	Hela-S3	cervix
15	chr5:107630400-107631600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:107630400-107632400	Enhancers	NHEK	skin
17	chr5:107631000-107631200	Enhancers	HMEC	breast
18	chr5:107631000-107631600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:107631200-107631600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:107631200-107631600	Enhancers	Brain Substantia Nigra	brain
21	chr5:107631200-107631600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr5:107631200-107631600	Enhancers	Small Intestine	intestine
23	chr5:107631200-107631600	Flanking Active TSS	HMEC	breast
24	chr5:107631200-107631800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:107631200-107631800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:107631200-107632000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:107631200-107632000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:107631200-107632000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:107631200-107632000	Enhancers	Stomach Mucosa	stomach
30	chr5:107631200-107632000	Enhancers	HSMM	muscle
31	chr5:107631200-107632200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:107631200-107632400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:107631200-107632400	Enhancers	HUVEC	blood vessel
34	chr5:107631200-107632400	Enhancers	NHDF-Ad	bronchial
35	chr5:107631200-107632600	Enhancers	Osteobl	bone
36	chr5:107631400-107631800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:107631400-107632000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:107631400-107632000	Enhancers	A549	lung
39	chr5:107631400-107632200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:107631400-107632400	Enhancers	Hela-S3	cervix
41	chr5:107631400-107632400	Enhancers	NHLF	lung
42	chr5:107631600-107632000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:107631600-107632000	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr5:107631600-107632000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr5:107631600-107632400	Enhancers	HMEC	breast
46	chr5:107631600-107633200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:107631800-107632200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:107632000-107632600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:107632000-107632600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr5:107632200-107632400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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