Variant report

Variant	nsv608475
Chromosome Location	chr7:139659591-139662643
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139658608..139661604-chr7:139664895..139667243,3	MCF-7	breast:
2	chr7:139649248..139651136-chr7:139659607..139661310,2	MCF-7	breast:
3	chr7:139639209..139641304-chr7:139657486..139660196,2	K562	blood:
4	chr7:139304359..139307217-chr7:139661480..139664167,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41727	chr7:139659591-139659592	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144977544	chr7:139659625-139659626	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574184526	chr7:139659643-139659644	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541125812	chr7:139659658-139659659	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559936742	chr7:139659683-139659684	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148311312	chr7:139659687-139659688	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573959880	chr7:139659692-139659693	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552077731	chr7:139659709-139659710	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563622234	chr7:139659730-139659731	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185059077	chr7:139659735-139659736	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114485159	chr7:139659833-139659834	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567674509	chr7:139659834-139659835	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535549331	chr7:139659843-139659844	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563470262	chr7:139659854-139659855	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190303410	chr7:139659872-139659873	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530926177	chr7:139659873-139659874	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544318585	chr7:139659893-139659894	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562907686	chr7:139659909-139659910	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192971808	chr7:139659917-139659918	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558067776	chr7:139659948-139659949	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533421917	chr7:139659953-139659954	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537315204	chr7:139659959-139659960	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555807911	chr7:139659989-139659990	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574072991	chr7:139660008-139660009	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs367979967	chr7:139660043-139660044	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs184628004	chr7:139660064-139660065	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs578148695	chr7:139660065-139660066	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs545927255	chr7:139660098-139660099	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs112874046	chr7:139660108-139660109	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs563508979	chr7:139660133-139660134	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs372853409	chr7:139660142-139660143	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs150854462	chr7:139660277-139660278	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189513155	chr7:139660345-139660346	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561388347	chr7:139660371-139660372	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528880894	chr7:139660382-139660383	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180815637	chr7:139660402-139660403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28462	chr7:139660417-139660418	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs533011595	chr7:139660492-139660493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538201159	chr7:139660532-139660533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185126588	chr7:139660539-139660540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6965495	chr7:139660549-139660550	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs144018655	chr7:139660594-139660595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555695554	chr7:139660629-139660630	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567689967	chr7:139660631-139660632	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561916093	chr7:139660638-139660639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534691158	chr7:139660643-139660644	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553296253	chr7:139660655-139660656	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79887213	chr7:139660670-139660671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs578048337	chr7:139660744-139660745	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529490350	chr7:139660776-139660777	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	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
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139647000-139660600	Weak transcription	K562	blood
2	chr7:139651400-139662400	Weak transcription	Pancreas	Pancrea
3	chr7:139651400-139670000	Weak transcription	Gastric	stomach
4	chr7:139652000-139668400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:139652200-139691600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:139652800-139668000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:139653000-139678200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr7:139653200-139672200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:139653200-139678000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:139653400-139659800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:139653400-139676000	Weak transcription	Adipose Nuclei	Adipose
12	chr7:139653600-139661600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:139654600-139677600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:139655000-139660400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:139655000-139667800	Weak transcription	Colonic Mucosa	Colon
16	chr7:139655000-139677800	Weak transcription	Primary B cells from cord blood	blood
17	chr7:139655200-139660200	Strong transcription	Spleen	Spleen
18	chr7:139656400-139660400	Strong transcription	Primary hematopoietic stem cells	blood
19	chr7:139656800-139660200	Enhancers	Fetal Stomach	stomach
20	chr7:139657400-139664600	Weak transcription	Lung	lung
21	chr7:139657800-139660400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:139658000-139659600	Weak transcription	Thymus	Thymus
23	chr7:139658400-139660200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:139658400-139661200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:139658600-139661400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:139658600-139661600	Weak transcription	Primary T cells from cord blood	blood
27	chr7:139658600-139666200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:139658800-139661400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:139659000-139661800	Weak transcription	Fetal Thymus	thymus
30	chr7:139659600-139659800	Strong transcription	Thymus	Thymus
31	chr7:139659600-139660200	Enhancers	A549	lung
32	chr7:139659800-139660200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr7:139659800-139661800	Weak transcription	Thymus	Thymus
34	chr7:139660000-139660200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:139660200-139661400	Weak transcription	Spleen	Spleen
36	chr7:139660200-139666600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:139660200-139669200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:139660400-139660800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:139660400-139661200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:139660600-139661800	Enhancers	K562	blood
41	chr7:139660800-139663200	Strong transcription	Primary hematopoietic stem cells	blood
42	chr7:139661200-139668000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:139661400-139661800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr7:139661400-139662000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:139661400-139662600	Strong transcription	Spleen	Spleen
46	chr7:139661600-139662400	Strong transcription	Primary T cells from cord blood	blood
47	chr7:139661600-139662600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:139661800-139662600	Strong transcription	Fetal Thymus	thymus
49	chr7:139661800-139662600	Strong transcription	Thymus	Thymus
50	chr7:139661800-139666200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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