Variant report

Variant	nsv966829
Chromosome Location	chr7:65401958-65408474
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:1)
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	chr7:65392073..65394377-chr7:65402120..65403797,2	K562	blood:
2	chr7:65391954..65395271-chr7:65397113..65402077,6	K562	blood:
3	chr7:65406183..65408556-chr7:65445795..65447698,2	MCF-7	breast:
4	chr7:65401522..65403539-chr7:65405662..65407206,2	MCF-7	breast:
5	chr7:65397014..65399445-chr7:65403103..65406423,3	K562	blood:
6	chr7:65391913..65395079-chr7:65403805..65405428,3	K562	blood:
7	chr7:65401522..65403539-chr7:65405662..65407206,2	MCF-7	breast:
8	chr7:65392587..65394520-chr7:65403812..65406173,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GUSB-1	chr7:65400451-65403199	ENSG00000246837

No data

Variant related genes	Relation type
ENSG00000169919	chromatin interactions
FOXP1	miRNA target sites

Extended variants
information (count: 227 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:227 , 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	rs572470640	chr7:65402013-65402014	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs544612583	chr7:65402018-65402019	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs140101281	chr7:65402102-65402103	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs372107870	chr7:65402103-65402104	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs200366018	chr7:65402125-65402126	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs189115262	chr7:65402140-65402141	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs180723210	chr7:65402164-65402165	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs143706512	chr7:65402179-65402180	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs567409429	chr7:65402228-65402229	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs561357903	chr7:65402230-65402231	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs371462465	chr7:65402231-65402232	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs72576039	chr7:65402232-65402233	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs397759363	chr7:65402233-65402234	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs79903635	chr7:65402234-65402235	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs77722179	chr7:65402235-65402236	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs530191846	chr7:65402240-65402241	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs186364444	chr7:65402317-65402318	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs566989140	chr7:65402358-65402359	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs369890247	chr7:65402410-65402411	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs112716555	chr7:65402492-65402493	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs566635532	chr7:65402505-65402506	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs532500672	chr7:65402522-65402523	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs552648089	chr7:65402544-65402545	Weak transcription Genic enhancers Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs571506942	chr7:65402639-65402640	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs536977628	chr7:65402676-65402677	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs189151776	chr7:65402690-65402691	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs567319507	chr7:65402717-65402718	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs142783439	chr7:65402743-65402744	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs181580908	chr7:65402744-65402745	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs572607882	chr7:65402762-65402763	Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs147435006	chr7:65402846-65402847	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs569119609	chr7:65402901-65402902	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs139736170	chr7:65402950-65402951	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs559055967	chr7:65402989-65402990	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs372891655	chr7:65402991-65402992	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs186725316	chr7:65403011-65403012	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs557932133	chr7:65403040-65403041	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs544609127	chr7:65403066-65403067	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs561649980	chr7:65403126-65403127	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs191600906	chr7:65403131-65403132	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs554494762	chr7:65403200-65403201	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34529418	chr7:65403209-65403210	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs560563442	chr7:65403212-65403213	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532692707	chr7:65403233-65403234	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552587547	chr7:65403252-65403253	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182872205	chr7:65403271-65403272	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186213862	chr7:65403274-65403275	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550565915	chr7:65403282-65403283	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546650391	chr7:65403318-65403319	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376493218	chr7:65403423-65403424	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65345200-65419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:65366400-65406800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:65366800-65403600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:65368800-65403600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:65368800-65418800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:65368800-65419000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:65369600-65403600	Weak transcription	Fetal Stomach	stomach
8	chr7:65369600-65405800	Weak transcription	NHEK	skin
9	chr7:65373000-65403200	Weak transcription	A549	lung
10	chr7:65373800-65424000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:65374800-65402800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:65375000-65418800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:65375600-65419800	Weak transcription	HSMMtube	muscle
14	chr7:65377600-65402600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:65379200-65419000	Weak transcription	Fetal Thymus	thymus
16	chr7:65381800-65420200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr7:65382000-65420600	Weak transcription	Primary B cells from cord blood	blood
18	chr7:65382800-65419800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr7:65383200-65419000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:65383800-65419600	Weak transcription	GM12878-XiMat	blood
21	chr7:65384000-65405600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:65389400-65406000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:65389400-65423800	Weak transcription	Aorta	Aorta
24	chr7:65390400-65403800	Weak transcription	Adipose Nuclei	Adipose
25	chr7:65390400-65419000	Weak transcription	Thymus	Thymus
26	chr7:65390600-65423800	Weak transcription	Gastric	stomach
27	chr7:65392600-65418400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:65392800-65402200	Weak transcription	Primary T cells from cord blood	blood
29	chr7:65392800-65412600	Weak transcription	Pancreas	Pancrea
30	chr7:65393000-65411800	Weak transcription	Ovary	ovary
31	chr7:65393200-65419600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:65393400-65419000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:65393800-65403600	Weak transcription	Fetal Intestine Large	intestine
34	chr7:65394000-65403200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:65395600-65403600	Weak transcription	K562	blood
36	chr7:65395600-65403800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:65395600-65420400	Weak transcription	Esophagus	oesophagus
38	chr7:65395800-65420000	Weak transcription	Fetal Lung	lung
39	chr7:65396200-65404000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:65396600-65418600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:65396800-65403800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:65396800-65416800	Weak transcription	Hela-S3	cervix
43	chr7:65396800-65420000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:65397000-65402200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:65397200-65403800	Weak transcription	HepG2	liver
46	chr7:65397400-65419600	Weak transcription	Left Ventricle	heart
47	chr7:65397600-65403800	Weak transcription	Liver	Liver
48	chr7:65399000-65403800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:65399200-65425000	Weak transcription	Small Intestine	intestine
50	chr7:65399400-65403400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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