Variant report

Variant	nsv889237
Chromosome Location	chr7:136715167-136793350
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:5)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:136733893..136735505-chr7:136735883..136738187,2	K562	blood:
2	chr7:136733893..136735505-chr7:136735883..136738187,2	K562	blood:
3	chr7:136758590..136760294-chr7:136763517..136766034,2	K562	blood:
4	chr7:136768600..136771525-chr7:136904072..136906566,2	K562	blood:
5	chr7:136758590..136760294-chr7:136763517..136766034,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTN-2	chr7:136717541-136717660	ENSG00000234352
2	lnc-PTN-2	chr7:136716652-136716710	ENSG00000234352.5
3	lnc-PTN-2	chr7:136717541-136717660	ENSG00000234352
4	lnc-PTN-2	chr7:136717541-136717660	ENSG00000234352.2
5	lnc-PTN-7	chr7:136763157-136763358	NONHSAT123572
6	lnc-PTN-6	chr7:136765503-136765733	NONHSAT123573
7	lnc-PTN-2	chr7:136717541-136717660	ENSG00000234352.5
8	lnc-PTN-2	chr7:136717541-136717660	ENSG00000234352.5
9	lnc-PTN-8	chr7:136762787-136763014	NONHSAT123571
10	lnc-PTN-2	chr7:136716652-136716710	ENSG00000234352
11	lnc-PTN-2	chr7:136717541-136717660	ENSG00000234352.5

No data

Variant related genes	Relation type
MUC17	miRNA target sites
FBN1	miRNA target sites
RFC3	miRNA target sites

Extended variants
information (count: 2331 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2331 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs324658	chr7:136715167-136715168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576262746	chr7:136715172-136715173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547837644	chr7:136715251-136715252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7779506	chr7:136715254-136715255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7779513	chr7:136715263-136715264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183331572	chr7:136715264-136715265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7779397	chr7:136715276-136715277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375330779	chr7:136715283-136715284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7779527	chr7:136715293-136715294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570356165	chr7:136715300-136715301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7779658	chr7:136715343-136715344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7779921	chr7:136715396-136715397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34139026	chr7:136715409-136715410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559176142	chr7:136715411-136715412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572575349	chr7:136715429-136715430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150230977	chr7:136715432-136715433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554609688	chr7:136715467-136715468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574453150	chr7:136715505-136715506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375408546	chr7:136715506-136715507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572149042	chr7:136715521-136715522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537340497	chr7:136715554-136715555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371354590	chr7:136715574-136715575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562984329	chr7:136715581-136715582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532257615	chr7:136715593-136715594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545719526	chr7:136715601-136715602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7780107	chr7:136715603-136715604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs528252733	chr7:136715619-136715620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548090346	chr7:136715621-136715622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7779999	chr7:136715660-136715661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs138794384	chr7:136715669-136715670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550185478	chr7:136715672-136715673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116841894	chr7:136715674-136715675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143006911	chr7:136715685-136715686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577610863	chr7:136715686-136715687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187667882	chr7:136715702-136715703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115696861	chr7:136715714-136715715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535175882	chr7:136715772-136715773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554912897	chr7:136715777-136715778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192858125	chr7:136715844-136715845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183400906	chr7:136715845-136715846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556513950	chr7:136715874-136715875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576398472	chr7:136715886-136715887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545409900	chr7:136715933-136715934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187845137	chr7:136715934-136715935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528377263	chr7:136715942-136715943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542002972	chr7:136716015-136716016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202155018	chr7:136716020-136716021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545501445	chr7:136716027-136716028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561769010	chr7:136716081-136716082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34793036	chr7:136716084-136716085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136700400-136717400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:136711400-136717400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:136711600-136721400	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:136717400-136717800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:136717400-136718000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:136717800-136720600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:136720600-136720800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:136720800-136721200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:136721200-136721800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:136721400-136721600	Enhancers	Colon Smooth Muscle	Colon
11	chr7:136721400-136721800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:136721400-136721800	Enhancers	Ovary	ovary
13	chr7:136721400-136722600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:136721600-136722000	Enhancers	Osteobl	bone
15	chr7:136721800-136722600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:136722000-136730800	Weak transcription	Osteobl	bone
17	chr7:136722600-136723200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:136728200-136728800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:136728200-136728800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:136728400-136729000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:136730000-136730800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:136730800-136731000	Enhancers	Osteobl	bone
23	chr7:136730800-136731200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:136731000-136731400	Weak transcription	Osteobl	bone
25	chr7:136731200-136731600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:136731400-136731800	Enhancers	Osteobl	bone
27	chr7:136731600-136733400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:136733400-136733800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:136741600-136742000	Enhancers	Ovary	ovary
30	chr7:136741600-136742000	Active TSS	Right Atrium	heart
31	chr7:136741600-136742000	Active TSS	Right Ventricle	heart
32	chr7:136741800-136742400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:136752000-136758200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:136754000-136754400	Enhancers	Fetal Heart	heart
35	chr7:136754000-136754600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:136754000-136754600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:136754000-136754600	Enhancers	Colon Smooth Muscle	Colon
38	chr7:136754000-136754600	Enhancers	Rectal Smooth Muscle	rectum
39	chr7:136754000-136754800	Enhancers	Right Atrium	heart
40	chr7:136754200-136754400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:136754200-136754400	Enhancers	Ovary	ovary
42	chr7:136754200-136754600	Enhancers	Left Ventricle	heart
43	chr7:136754200-136754600	Enhancers	NHLF	lung
44	chr7:136754400-136754600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:136754400-136757800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:136754400-136758200	Weak transcription	Ovary	ovary
47	chr7:136754600-136755600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:136754600-136755600	Weak transcription	NHLF	lung
49	chr7:136754600-136756000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:136754600-136765200	Weak transcription	Colon Smooth Muscle	Colon

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