Variant report

Variant	nsv511992
Chromosome Location	chr7:137453319-137457163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CREB3L2-1	chr7:137456345-137456939	NONHSAT123587

Extended variants
information (count: 159 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544774364	chr7:137453362-137453363	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs574934884	chr7:137453368-137453369	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550121885	chr7:137453370-137453371	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs569634822	chr7:137453372-137453373	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs538239254	chr7:137453375-137453376	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552178133	chr7:137453377-137453378	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs139723222	chr7:137453380-137453381	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs545794081	chr7:137453392-137453393	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs534753957	chr7:137453395-137453396	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs553904177	chr7:137453446-137453447	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs144381154	chr7:137453490-137453491	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192302305	chr7:137453516-137453517	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556458308	chr7:137453521-137453522	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs530187730	chr7:137453522-137453523	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs146599085	chr7:137453540-137453541	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs59490500	chr7:137453553-137453554	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532392513	chr7:137453560-137453561	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs565327978	chr7:137453599-137453600	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs572440352	chr7:137453668-137453669	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541523697	chr7:137453687-137453688	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184505711	chr7:137453691-137453692	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529930769	chr7:137453698-137453699	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552448836	chr7:137453736-137453737	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140086788	chr7:137453741-137453742	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563552497	chr7:137453752-137453753	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3842146	chr7:137453764-137453765	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142306343	chr7:137453790-137453791	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569017721	chr7:137453850-137453851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551874826	chr7:137453853-137453854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151248993	chr7:137453863-137453864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140444939	chr7:137453868-137453869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547905945	chr7:137453889-137453890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57750904	chr7:137453903-137453904	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10229376	chr7:137453931-137453932	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs556369150	chr7:137453943-137453944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576661575	chr7:137453948-137453949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539361405	chr7:137453949-137453950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150387286	chr7:137453959-137453960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57189840	chr7:137453978-137453979	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs2009990	chr7:137453994-137453995	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs115643700	chr7:137454002-137454003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10243295	chr7:137454019-137454020	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs188682910	chr7:137454031-137454032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs60594385	chr7:137454049-137454050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181115249	chr7:137454075-137454076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186007282	chr7:137454083-137454084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559055100	chr7:137454102-137454103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375997045	chr7:137454160-137454161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189333046	chr7:137454177-137454178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547818697	chr7:137454214-137454215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137441000-137464400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:137442600-137456200	Weak transcription	HSMM	muscle
3	chr7:137450400-137453400	Weak transcription	Right Atrium	heart
4	chr7:137451600-137453400	Weak transcription	Esophagus	oesophagus
5	chr7:137451800-137454000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:137451800-137456000	Weak transcription	HSMMtube	muscle
7	chr7:137451800-137456200	Weak transcription	Osteobl	bone
8	chr7:137452000-137455800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:137452600-137453800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:137452800-137453800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:137452800-137454000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:137452800-137454000	Enhancers	NHEK	skin
13	chr7:137452800-137454200	Enhancers	NHDF-Ad	bronchial
14	chr7:137453000-137453600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:137453000-137453600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:137453000-137453600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:137453000-137453800	Enhancers	Adipose Nuclei	Adipose
18	chr7:137453000-137453800	Enhancers	HMEC	breast
19	chr7:137453000-137454000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:137453000-137454000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:137453200-137453400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:137453200-137453400	Enhancers	Aorta	Aorta
23	chr7:137453200-137453600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:137453200-137453600	Active TSS	Brain Angular Gyrus	brain
25	chr7:137453200-137453600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:137453200-137453600	Enhancers	NH-A	brain
27	chr7:137453200-137453600	Enhancers	NHLF	lung
28	chr7:137453200-137454000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:137453200-137454000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:137453200-137454000	Enhancers	Ovary	ovary
31	chr7:137453400-137453600	Enhancers	Right Atrium	heart
32	chr7:137453400-137453800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:137453400-137453800	Weak transcription	Aorta	Aorta
34	chr7:137453400-137454000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:137453400-137454000	Enhancers	Esophagus	oesophagus
36	chr7:137453400-137456400	Weak transcription	Brain Anterior Caudate	brain
37	chr7:137453400-137459000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:137453600-137453800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:137453600-137454000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:137453600-137454000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:137453600-137456000	Weak transcription	NH-A	brain
42	chr7:137453600-137456400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:137453600-137456600	Weak transcription	NHLF	lung
44	chr7:137453600-137457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:137453600-137457600	Weak transcription	Brain Angular Gyrus	brain
46	chr7:137453800-137454000	Enhancers	Aorta	Aorta
47	chr7:137453800-137455800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:137453800-137456000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:137453800-137456000	Weak transcription	Adipose Nuclei	Adipose
50	chr7:137453800-137456200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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