Variant report

Variant	esv1000224
Chromosome Location	chr7:84189064-84194272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575278120	chr7:84190610-84190611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77622148	chr7:84190631-84190632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150522925	chr7:84190649-84190650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192351393	chr7:84190684-84190685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183351095	chr7:84190714-84190715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139489439	chr7:84190744-84190745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187073270	chr7:84190778-84190779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563419906	chr7:84190879-84190880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531057843	chr7:84190903-84190904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549156962	chr7:84190935-84190936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567473471	chr7:84190953-84190954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544271502	chr7:84190955-84190956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114393387	chr7:84190965-84190966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547237554	chr7:84190973-84190974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199499117	chr7:84190975-84190976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200854783	chr7:84190976-84190977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201993789	chr7:84190977-84190978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201914527	chr7:84190978-84190979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs202065015	chr7:84190985-84190986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565573332	chr7:84190987-84190988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149694499	chr7:84191008-84191009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115128259	chr7:84191011-84191012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576194778	chr7:84191019-84191020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145308617	chr7:84191076-84191077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113413407	chr7:84191087-84191088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191178736	chr7:84191091-84191092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79343741	chr7:84191103-84191104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546576871	chr7:84191111-84191112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559584899	chr7:84191112-84191113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577981062	chr7:84191216-84191217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545382993	chr7:84191267-84191268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117162246	chr7:84191346-84191347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530913876	chr7:84191373-84191374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549036328	chr7:84191447-84191448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561161738	chr7:84191472-84191473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528668427	chr7:84191488-84191489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80260547	chr7:84191489-84191490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373793526	chr7:84191492-84191493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571902980	chr7:84191500-84191501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539100424	chr7:84191609-84191610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551404078	chr7:84191622-84191623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183434690	chr7:84191699-84191700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12535916	chr7:84191730-84191731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144850250	chr7:84191761-84191762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73192718	chr7:84191783-84191784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573791160	chr7:84191787-84191788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534794915	chr7:84191819-84191820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553039869	chr7:84191854-84191855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568618569	chr7:84191868-84191869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113043691	chr7:84191890-84191891	Weak transcription	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84190600-84191400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:84191000-84191600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:84191200-84191600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:84191400-84194400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:84194200-84194800	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links