Variant report

Variant	esv2754488
Chromosome Location	chr7:136798166-136817637
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:136798840..136800832-chr7:136803946..136805637,2	K562	blood:
2	chr7:136798840..136800832-chr7:136803946..136805637,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTN-2	chr7:136804506-136805046	NONHSAT123574
2	lnc-PTN-2	chr7:136804504-136805046	ENSG00000234352.5

Extended variants
information (count: 503 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1035688	chr7:136798166-136798167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535201771	chr7:136798194-136798195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554927921	chr7:136798195-136798196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574858149	chr7:136798197-136798198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543826075	chr7:136798199-136798200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75417616	chr7:136804507-136804508	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs370221659	chr7:136804508-136804509	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs141556842	chr7:136804534-136804535	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs557783099	chr7:136804543-136804544	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs146173407	chr7:136804551-136804552	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs540432500	chr7:136804558-136804559	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs148399171	chr7:136804569-136804570	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs573417510	chr7:136804645-136804646	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs542243919	chr7:136804648-136804649	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs1477525	chr7:136804676-136804677	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs141592191	chr7:136804682-136804683	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs150901679	chr7:136804685-136804686	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs185577074	chr7:136804688-136804689	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs533307252	chr7:136804696-136804697	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs546829221	chr7:136804700-136804701	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs1895707	chr7:136804734-136804735	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs1364716	chr7:136804753-136804754	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs79703442	chr7:136804773-136804774	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs548684921	chr7:136804781-136804782	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs113723650	chr7:136804783-136804784	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs372180344	chr7:136804788-136804789	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs139362718	chr7:136804847-136804848	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs557985496	chr7:136804899-136804900	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs182066252	chr7:136804900-136804901	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs533968703	chr7:136804947-136804948	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs1477524	chr7:136804948-136804949	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs185479672	chr7:136804955-136804956	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs573355630	chr7:136804970-136804971	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs188856548	chr7:136805213-136805214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573417351	chr7:136805246-136805247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533490302	chr7:136805250-136805251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528849513	chr7:136805251-136805252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540404842	chr7:136805258-136805259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560349015	chr7:136805260-136805261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76459234	chr7:136805316-136805317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549034703	chr7:136805364-136805365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150022820	chr7:136805379-136805380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534285275	chr7:136805380-136805381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181246497	chr7:136805435-136805436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551132649	chr7:136805454-136805455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77614317	chr7:136805486-136805487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534112010	chr7:136805504-136805505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550684348	chr7:136805532-136805533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567437013	chr7:136805565-136805566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536059153	chr7:136805591-136805592	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136797800-136798200	Enhancers	NHLF	lung
2	chr7:136805200-136805800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:136805200-136806000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:136805200-136806400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:136805200-136806800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:136805600-136805800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:136805600-136806200	Enhancers	NHLF	lung
8	chr7:136806200-136806600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:136806600-136807200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:136807200-136812000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:136812000-136812600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:136812200-136815600	Weak transcription	NHLF	lung
13	chr7:136812600-136815600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:136813000-136815200	Weak transcription	Osteobl	bone
15	chr7:136814000-136814200	Enhancers	NH-A	brain
16	chr7:136814000-136814400	Enhancers	Fetal Heart	heart
17	chr7:136814200-136814600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr7:136814200-136814800	Enhancers	Rectal Smooth Muscle	rectum
19	chr7:136814200-136815200	Weak transcription	NH-A	brain
20	chr7:136814400-136820200	Weak transcription	Fetal Heart	heart
21	chr7:136814600-136815000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:136814800-136816000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:136815000-136815400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:136815200-136815800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:136815200-136816200	Enhancers	NH-A	brain
26	chr7:136815200-136816200	Enhancers	Osteobl	bone
27	chr7:136815400-136816200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:136815600-136816000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:136815600-136816000	Enhancers	NHLF	lung
30	chr7:136815600-136816200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:136815600-136816400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:136815600-136816400	Enhancers	HMEC	breast
33	chr7:136815800-136816400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:136815800-136819200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:136816200-136820000	Weak transcription	Osteobl	bone
36	chr7:136816400-136816800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:136816800-136817400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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