Variant report

Variant	esv3333850
Chromosome Location	chr7:140086683-140088681
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	chr7:140082007..140083740-chr7:140084020..140086777,2	K562	blood:

Variant related genes	Relation type
ENSG00000157800	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549428750	chr7:140086686-140086687	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143605381	chr7:140086689-140086690	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs117842020	chr7:140086732-140086733	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185253819	chr7:140086758-140086759	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190133501	chr7:140086773-140086774	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138253830	chr7:140086806-140086807	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142371417	chr7:140086825-140086826	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182305586	chr7:140086860-140086861	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536632180	chr7:140086863-140086864	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554905179	chr7:140086908-140086909	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573602317	chr7:140086938-140086939	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56402448	chr7:140086949-140086950	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559609517	chr7:140086996-140086997	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577754497	chr7:140087036-140087037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186156977	chr7:140087042-140087043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13229539	chr7:140087136-140087137	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569272659	chr7:140087156-140087157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146546573	chr7:140087193-140087194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560561431	chr7:140087235-140087236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552080728	chr7:140087272-140087273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561099835	chr7:140087276-140087277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189384658	chr7:140087307-140087308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546967742	chr7:140087402-140087403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180703773	chr7:140087408-140087409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10254775	chr7:140087425-140087426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564503445	chr7:140087443-140087444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185094061	chr7:140087465-140087466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527403597	chr7:140087498-140087499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370778995	chr7:140087501-140087502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191404830	chr7:140087514-140087515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374985596	chr7:140087529-140087530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376354613	chr7:140087536-140087537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372825202	chr7:140087537-140087538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370424720	chr7:140087549-140087550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150848254	chr7:140087550-140087551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs5016827	chr7:140087576-140087577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373588142	chr7:140087579-140087580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368580194	chr7:140087593-140087594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372835809	chr7:140087601-140087602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376055626	chr7:140087605-140087606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs5016828	chr7:140087606-140087607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369765716	chr7:140087609-140087610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10257830	chr7:140087622-140087623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371982497	chr7:140087630-140087631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75187783	chr7:140087636-140087637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376167563	chr7:140087639-140087640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77181076	chr7:140087642-140087643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376227060	chr7:140087646-140087647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538826420	chr7:140087658-140087659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186900842	chr7:140087743-140087744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19826477	CNVD
Melanoma	19509136	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140033600-140096000	Weak transcription	Stomach Mucosa	stomach
2	chr7:140049200-140090200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:140052000-140097400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:140058600-140096000	Weak transcription	Small Intestine	intestine
5	chr7:140058800-140097200	Weak transcription	Brain Anterior Caudate	brain
6	chr7:140059400-140091400	Weak transcription	Fetal Heart	heart
7	chr7:140068000-140089000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:140069600-140091800	Weak transcription	Esophagus	oesophagus
9	chr7:140076400-140088800	Weak transcription	GM12878-XiMat	blood
10	chr7:140076600-140090000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:140076600-140090200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:140076800-140089600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:140076800-140089600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:140076800-140096200	Weak transcription	NHLF	lung
15	chr7:140078200-140090000	Weak transcription	Pancreas	Pancrea
16	chr7:140080200-140089400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:140080200-140089800	Weak transcription	HSMM	muscle
18	chr7:140080200-140090200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:140080200-140090200	Weak transcription	HMEC	breast
20	chr7:140080200-140095800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:140080200-140096000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:140080200-140097200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:140080200-140097200	Weak transcription	HSMMtube	muscle
24	chr7:140080200-140097600	Weak transcription	Brain Angular Gyrus	brain
25	chr7:140080600-140088800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:140080600-140089000	Weak transcription	Spleen	Spleen
27	chr7:140080600-140089600	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:140080600-140089800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:140080600-140090000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:140080600-140090200	Weak transcription	Primary T cells from cord blood	blood
31	chr7:140080600-140090400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:140080600-140096200	Weak transcription	HepG2	liver
33	chr7:140080600-140097400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:140080800-140089800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:140080800-140090600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:140080800-140096200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:140081400-140097200	Weak transcription	Brain Germinal Matrix	brain
38	chr7:140081600-140089200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:140081800-140093000	Weak transcription	Fetal Intestine Small	intestine
40	chr7:140082000-140089600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:140082200-140088800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:140082200-140089800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:140082200-140090200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:140082200-140090200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:140082200-140090200	Weak transcription	NH-A	brain
46	chr7:140082200-140093000	Weak transcription	Fetal Stomach	stomach
47	chr7:140082200-140096200	Weak transcription	Fetal Lung	lung
48	chr7:140082200-140097000	Weak transcription	Fetal Brain Female	brain
49	chr7:140082200-140097400	Weak transcription	Right Ventricle	heart
50	chr7:140082400-140089000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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