Variant report

Variant	nsv528311
Chromosome Location	chr7:136650607-136680801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1D1-7	chr7:136653879-136654144	ucscGeneNc_uc003vts_1
2	lnc-AKR1D1-7	chr7:136660672-136662240	ucscGeneNc_uc003vts_1

Extended variants
information (count: 1130 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1130 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs324582	chr7:136650607-136650608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563298399	chr7:136650627-136650628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558845201	chr7:136650636-136650637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572135829	chr7:136650745-136650746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187086004	chr7:136650777-136650778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530385426	chr7:136650789-136650790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538339655	chr7:136650807-136650808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35269625	chr7:136650859-136650860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34163337	chr7:136650863-136650864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs324583	chr7:136650867-136650868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs324584	chr7:136650879-136650880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543017173	chr7:136650917-136650918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34410846	chr7:136650931-136650932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529879266	chr7:136650937-136650938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60213441	chr7:136650942-136650943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377354527	chr7:136650977-136650978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140419332	chr7:136650999-136651000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531767037	chr7:136651054-136651055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560562029	chr7:136651055-136651056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552266205	chr7:136651081-136651082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551777365	chr7:136651103-136651104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565618736	chr7:136651188-136651189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527832422	chr7:136651211-136651212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115912498	chr7:136651236-136651237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs324585	chr7:136651299-136651300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543326173	chr7:136651381-136651382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566988002	chr7:136651419-136651420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73158758	chr7:136651425-136651426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs324586	chr7:136651426-136651427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546856292	chr7:136651431-136651432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549538569	chr7:136651444-136651445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551575171	chr7:136651460-136651461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5887819	chr7:136651461-136651462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538506057	chr7:136651471-136651472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373695831	chr7:136651508-136651509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565425215	chr7:136651528-136651529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531028199	chr7:136651562-136651563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368449979	chr7:136651581-136651582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538666146	chr7:136651604-136651605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578180979	chr7:136651660-136651661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116886174	chr7:136651700-136651701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182231803	chr7:136651741-136651742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570045408	chr7:136651766-136651767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554827534	chr7:136651794-136651795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs324587	chr7:136651807-136651808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138107538	chr7:136651811-136651812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563039724	chr7:136651881-136651882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576356390	chr7:136651889-136651890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567685867	chr7:136651909-136651910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565398506	chr7:136651968-136651969	Weak transcription	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
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136642000-136654600	Weak transcription	Right Atrium	heart
2	chr7:136649400-136656600	Weak transcription	Fetal Stomach	stomach
3	chr7:136649600-136656000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:136650400-136652600	Weak transcription	Fetal Heart	heart
5	chr7:136650600-136656000	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:136650600-136656000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:136652600-136652800	Enhancers	Fetal Heart	heart
8	chr7:136652800-136653000	Weak transcription	Fetal Heart	heart
9	chr7:136652800-136653400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:136653000-136653200	Enhancers	Fetal Heart	heart
11	chr7:136653200-136660400	Weak transcription	Fetal Heart	heart
12	chr7:136654600-136654800	Enhancers	Right Atrium	heart
13	chr7:136656000-136656200	Enhancers	Rectal Smooth Muscle	rectum
14	chr7:136656000-136657000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:136656000-136657200	Enhancers	Colon Smooth Muscle	Colon
16	chr7:136656200-136656600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:136656600-136657200	Enhancers	Rectal Smooth Muscle	rectum
18	chr7:136656600-136657400	Enhancers	Fetal Stomach	stomach
19	chr7:136657000-136658000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:136657200-136659000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:136657200-136661600	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:136657400-136661400	Weak transcription	Fetal Stomach	stomach
23	chr7:136658000-136658400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:136658400-136661200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:136659000-136659200	Enhancers	Rectal Smooth Muscle	rectum
26	chr7:136659200-136661400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:136660400-136661800	Enhancers	Fetal Heart	heart
28	chr7:136661200-136661600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:136661400-136661600	Enhancers	Fetal Stomach	stomach
30	chr7:136661400-136661800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:136661400-136662200	Enhancers	Rectal Smooth Muscle	rectum
32	chr7:136661600-136662000	Weak transcription	Fetal Stomach	stomach
33	chr7:136661600-136662400	Enhancers	Colon Smooth Muscle	Colon
34	chr7:136661600-136662800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:136661800-136662600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:136661800-136677200	Weak transcription	Fetal Heart	heart
37	chr7:136662000-136662400	Enhancers	Fetal Stomach	stomach
38	chr7:136662400-136678000	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:136662800-136664000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:136666400-136685400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr7:136668200-136669200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:136669000-136669200	Enhancers	Left Ventricle	heart
43	chr7:136669200-136669400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:136669400-136670200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:136670200-136670400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:136670400-136671800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:136671800-136673600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:136673200-136674600	Weak transcription	Left Ventricle	heart
49	chr7:136673600-136677200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:136674600-136674800	ZNF genes & repeats	Left Ventricle	heart

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