Variant report

Variant	esv1802661
Chromosome Location	chr7:97012193-97024877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:97007234..97008904-chr7:97014307..97016794,2	K562	blood:
2	chr7:97024861..97027776-chr7:97033571..97035191,2	MCF-7	breast:
3	chr7:97015958..97018724-chr7:97019357..97022553,3	K562	blood:
4	chr7:97015958..97018724-chr7:97019357..97022553,3	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527240712	chr7:97012211-97012212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370529178	chr7:97012282-97012283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369626485	chr7:97012286-97012287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2394631	chr7:97012300-97012301	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs568349816	chr7:97012320-97012321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192074557	chr7:97012344-97012345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552472102	chr7:97012384-97012385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116418138	chr7:97012388-97012389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561478451	chr7:97012485-97012486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376669724	chr7:97012487-97012488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548235655	chr7:97012507-97012508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184883016	chr7:97012517-97012518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73708733	chr7:97012528-97012529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553784104	chr7:97012671-97012672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58901040	chr7:97012675-97012676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs189779638	chr7:97012676-97012677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539769686	chr7:97012720-97012721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75456214	chr7:97012771-97012772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576147998	chr7:97012779-97012780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542842548	chr7:97012788-97012789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531661208	chr7:97012789-97012790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528310018	chr7:97012795-97012796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs56718096	chr7:97012796-97012797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537345167	chr7:97012897-97012898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10257214	chr7:97012909-97012910	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569693378	chr7:97012919-97012920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59964691	chr7:97012986-97012987	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs201893172	chr7:97019422-97019423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62496423	chr7:97019464-97019465	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs551358263	chr7:97019465-97019466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373174481	chr7:97019511-97019512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557498938	chr7:97019551-97019552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577464010	chr7:97019580-97019581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78713327	chr7:97019599-97019600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78463016	chr7:97019627-97019628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576182809	chr7:97019635-97019636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs66631766	chr7:97019657-97019658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs66644866	chr7:97019662-97019663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541876131	chr7:97019670-97019671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs67076710	chr7:97019680-97019681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs541410948	chr7:97019695-97019696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76362028	chr7:97019710-97019711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs67794042	chr7:97019718-97019719	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs143315328	chr7:97019761-97019762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569990679	chr7:97019800-97019801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57280981	chr7:97019848-97019849	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549236127	chr7:97019851-97019852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549273840	chr7:97019868-97019869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs59934557	chr7:97019884-97019885	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs61562254	chr7:97019933-97019934	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

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
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
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
abnormal development	18461090	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97011600-97012400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:97011600-97012600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:97011600-97012600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:97012200-97012600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr7:97012400-97013000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:97019400-97019800	Enhancers	K562	blood
7	chr7:97019400-97020000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:97019600-97019800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr7:97019800-97020800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:97020400-97021000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:97020400-97021200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:97020400-97021200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:97020800-97021000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:97020800-97021200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links