Variant report

Variant	esv2584536
Chromosome Location	chr7:83750456-83752054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189862295	chr7:83750468-83750469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112813002	chr7:83750502-83750503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557580680	chr7:83750574-83750575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111290093	chr7:83750575-83750576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543296217	chr7:83750613-83750614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535208718	chr7:83750652-83750653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575378129	chr7:83750658-83750659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555324364	chr7:83750667-83750668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573643928	chr7:83750678-83750679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544546186	chr7:83750690-83750691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182072181	chr7:83750700-83750701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559159761	chr7:83750763-83750764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375698177	chr7:83750796-83750797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577712598	chr7:83750836-83750837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184572768	chr7:83750851-83750852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563099648	chr7:83750852-83750853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13238365	chr7:83750920-83750921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13225162	chr7:83750929-83750930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13228074	chr7:83750934-83750935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539949919	chr7:83750955-83750956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35808952	chr7:83750972-83750973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530624996	chr7:83751255-83751256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548839747	chr7:83751346-83751347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74959801	chr7:83751360-83751361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560866004	chr7:83751387-83751388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189892672	chr7:83751407-83751408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180847327	chr7:83751416-83751417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185498175	chr7:83751424-83751425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140546750	chr7:83751458-83751459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190951325	chr7:83751459-83751460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145808505	chr7:83751465-83751466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373877399	chr7:83751508-83751509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536853789	chr7:83751534-83751535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555285577	chr7:83751575-83751576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182026651	chr7:83751578-83751579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534319239	chr7:83751579-83751580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7780521	chr7:83751627-83751628	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577572545	chr7:83751726-83751727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77642948	chr7:83751756-83751757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13228833	chr7:83751770-83751771	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375021635	chr7:83751771-83751772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540122351	chr7:83751778-83751779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375602722	chr7:83751779-83751780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80270098	chr7:83751854-83751855	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553330308	chr7:83751859-83751860	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7783472	chr7:83751882-83751883	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543971145	chr7:83751912-83751913	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143082487	chr7:83751952-83751953	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528433804	chr7:83751968-83751969	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552846017	chr7:83751984-83751985	Weak transcription Genic enhancers 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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83734400-83762800	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:83741400-83753400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:83743000-83756400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:83743200-83751800	Weak transcription	NHDF-Ad	bronchial
5	chr7:83743200-83752600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:83743400-83752400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:83743800-83752200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:83743800-83753200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:83744000-83752000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:83744400-83753400	Weak transcription	NHLF	lung
11	chr7:83745000-83769400	Weak transcription	Fetal Stomach	stomach
12	chr7:83746200-83753200	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:83747000-83752000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:83747200-83752000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:83747200-83752400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:83747200-83753200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:83747400-83752800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:83748000-83751800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:83748000-83753200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:83748400-83752000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:83748400-83752400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:83748800-83753200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:83749800-83751800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:83750400-83750800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:83750800-83751800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:83751800-83752200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:83751800-83753200	Enhancers	NHDF-Ad	bronchial
28	chr7:83751800-83753400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:83751800-83753400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:83751800-83753800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:83752000-83753200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:83752000-83753400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:83752000-83753800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr7:83752000-83753800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr7:83752000-83753800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:83752000-83754000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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