Variant report

Variant	esv3338015
Chromosome Location	chr7:137454237-137456785
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: 95 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567795181	chr7:137454285-137454286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34528178	chr7:137454296-137454297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530568189	chr7:137454299-137454300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564025240	chr7:137454407-137454408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572996499	chr7:137454412-137454413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs36198894	chr7:137454419-137454420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77606673	chr7:137454443-137454444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35413274	chr7:137454446-137454447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs80225192	chr7:137454467-137454468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75090078	chr7:137454478-137454479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559225996	chr7:137454499-137454500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566278011	chr7:137454514-137454515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534993781	chr7:137454516-137454517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147637627	chr7:137454543-137454544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545428461	chr7:137454567-137454568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373359016	chr7:137454597-137454598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574975049	chr7:137454602-137454603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377293836	chr7:137454633-137454634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377701300	chr7:137454662-137454663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371539616	chr7:137454669-137454670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556828970	chr7:137454694-137454695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180786186	chr7:137454765-137454766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186404997	chr7:137454766-137454767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142243428	chr7:137454780-137454781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540299250	chr7:137454813-137454814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371420733	chr7:137454842-137454843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561388073	chr7:137454859-137454860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190849894	chr7:137454930-137454931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372511587	chr7:137454999-137455000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550264312	chr7:137455002-137455003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575812158	chr7:137455022-137455023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570123083	chr7:137455031-137455032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532723510	chr7:137455054-137455055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552525218	chr7:137455141-137455142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566359019	chr7:137455171-137455172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375504438	chr7:137455175-137455176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183058019	chr7:137455191-137455192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185686242	chr7:137455192-137455193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191224307	chr7:137455221-137455222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537511701	chr7:137455303-137455304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55719809	chr7:137455425-137455426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374604845	chr7:137455440-137455441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187678805	chr7:137455469-137455470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552941575	chr7:137455521-137455522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192776525	chr7:137455571-137455572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541732453	chr7:137455583-137455584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561302747	chr7:137455586-137455587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545840580	chr7:137455587-137455588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372701971	chr7:137455591-137455592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1963842	chr7:137455592-137455593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

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	chr7:137451800-137456000	Weak transcription	HSMMtube	muscle
4	chr7:137451800-137456200	Weak transcription	Osteobl	bone
5	chr7:137452000-137455800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:137453400-137456400	Weak transcription	Brain Anterior Caudate	brain
7	chr7:137453400-137459000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:137453600-137456000	Weak transcription	NH-A	brain
9	chr7:137453600-137456400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:137453600-137456600	Weak transcription	NHLF	lung
11	chr7:137453600-137457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:137453600-137457600	Weak transcription	Brain Angular Gyrus	brain
13	chr7:137453800-137455800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:137453800-137456000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:137453800-137456000	Weak transcription	Adipose Nuclei	Adipose
16	chr7:137453800-137456200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:137453800-137457000	Weak transcription	HMEC	breast
18	chr7:137453800-137457400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:137454000-137455800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:137454000-137456000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:137454000-137456400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:137454000-137456400	Weak transcription	NHEK	skin
23	chr7:137454000-137456600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:137454000-137457600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:137454000-137457600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:137454000-137459200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:137454000-137459200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:137454000-137459200	Weak transcription	Aorta	Aorta
29	chr7:137454000-137459400	Weak transcription	Esophagus	oesophagus
30	chr7:137454200-137455800	Weak transcription	NHDF-Ad	bronchial
31	chr7:137455800-137456600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:137455800-137457400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:137455800-137458200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:137455800-137460400	Enhancers	NHDF-Ad	bronchial
35	chr7:137455800-137461000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:137456000-137456600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:137456000-137456600	Enhancers	NH-A	brain
38	chr7:137456000-137456800	Enhancers	Adipose Nuclei	Adipose
39	chr7:137456000-137458600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:137456000-137459600	Enhancers	HSMMtube	muscle
41	chr7:137456200-137456400	Weak transcription	Brain Hippocampus Middle	brain
42	chr7:137456200-137456600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:137456200-137456800	Enhancers	Osteobl	bone
44	chr7:137456200-137459400	Enhancers	HSMM	muscle
45	chr7:137456400-137456600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:137456400-137456600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:137456400-137458200	Enhancers	Brain Hippocampus Middle	brain
48	chr7:137456400-137458400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:137456400-137458400	Enhancers	Brain Anterior Caudate	brain
50	chr7:137456400-137458400	Enhancers	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links