Variant report

Variant	esv3351120
Chromosome Location	chr7:83723666-83725764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:41348457..41349457-chr7:83723578..83724578,2	MCF-7	breast:
2	chr7:83723558..83724078-chr8:43092410..43092931,2	MCF-7	breast:
3	chr7:83725406..83727956-chr7:83729354..83731193,2	K562	blood:
4	chr7:83723558..83724078-chr8:43092279..43093244,4	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2057845	chr7:83723672-83723673	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550190069	chr7:83723701-83723702	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2057846	chr7:83723715-83723716	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549019533	chr7:83723731-83723732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141276537	chr7:83723747-83723748	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370652112	chr7:83723764-83723765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534747765	chr7:83723801-83723802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552868374	chr7:83723838-83723839	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369698601	chr7:83723866-83723867	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189920523	chr7:83723896-83723897	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538544569	chr7:83723909-83723910	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557176449	chr7:83723944-83723945	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77996208	chr7:83723945-83723946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144972957	chr7:83724009-83724010	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192136393	chr7:83724015-83724016	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78418602	chr7:83724033-83724034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572981079	chr7:83724043-83724044	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374430734	chr7:83724082-83724083	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540769802	chr7:83724087-83724088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146272439	chr7:83724118-83724119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184653829	chr7:83724127-83724128	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544482189	chr7:83724149-83724150	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190384049	chr7:83724161-83724162	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181977420	chr7:83724231-83724232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138163786	chr7:83724251-83724252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201130876	chr7:83724367-83724368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552707146	chr7:83724407-83724408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62477297	chr7:83724483-83724484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531849611	chr7:83724494-83724495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550150499	chr7:83724517-83724518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11471218	chr7:83724568-83724569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374453652	chr7:83724573-83724574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs398067042	chr7:83724574-83724575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376433892	chr7:83724595-83724596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377735974	chr7:83724642-83724643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74801948	chr7:83724644-83724645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199515140	chr7:83724662-83724663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368482456	chr7:83724675-83724676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3074754	chr7:83724676-83724677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62477298	chr7:83724720-83724721	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs113069922	chr7:83724873-83724874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537387891	chr7:83724881-83724882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11976558	chr7:83724889-83724890	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576650555	chr7:83724894-83724895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539203842	chr7:83724904-83724905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4490759	chr7:83724916-83724917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139502544	chr7:83724917-83724918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11972281	chr7:83724954-83724955	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573231895	chr7:83725023-83725024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185809147	chr7:83725039-83725040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83715600-83730200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:83715600-83731400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:83718400-83735000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:83721600-83735200	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:83721800-83723800	Weak transcription	Fetal Brain Male	brain
6	chr7:83721800-83726800	Enhancers	Primary T cells from cord blood	blood
7	chr7:83721800-83728600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:83722000-83724600	Weak transcription	Pancreas	Pancrea
9	chr7:83722000-83726400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:83722200-83724800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:83722200-83724800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr7:83722200-83724800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:83722200-83734000	Weak transcription	Fetal Lung	lung
14	chr7:83722200-83734200	Weak transcription	NHDF-Ad	bronchial
15	chr7:83722200-83735800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:83722200-83737600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:83722200-83738400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:83722600-83723800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr7:83722800-83724800	Weak transcription	Fetal Heart	heart
20	chr7:83723000-83724200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:83723400-83726600	Weak transcription	Dnd41	blood
22	chr7:83723400-83729400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:83723800-83724200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr7:83724200-83726400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:83724200-83737800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:83724800-83725000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr7:83724800-83725000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr7:83724800-83725200	Enhancers	Fetal Heart	heart
29	chr7:83724800-83726800	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr7:83725000-83725600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:83725600-83725800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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