Variant report

Variant	esv1801917
Chromosome Location	chr7:78353677-78354688
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	chr7:78354533..78356785-chr7:78357118..78359771,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10229438	chr7:78353677-78353678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs193020832	chr7:78353682-78353683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184109854	chr7:78353694-78353695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187507947	chr7:78353708-78353709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10229458	chr7:78353733-78353734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565082637	chr7:78353772-78353773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147095919	chr7:78353773-78353774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112295203	chr7:78353829-78353830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547874102	chr7:78353867-78353868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs323130	chr7:78353881-78353882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs192642363	chr7:78353912-78353913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373987697	chr7:78353922-78353923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549749237	chr7:78353951-78353952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370766872	chr7:78353961-78353962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570041022	chr7:78354010-78354011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538943848	chr7:78354016-78354017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558924970	chr7:78354024-78354025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113309729	chr7:78354036-78354037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375103997	chr7:78354050-78354051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72383379	chr7:78354097-78354098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374930437	chr7:78354099-78354100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534856982	chr7:78354121-78354122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553851919	chr7:78354137-78354138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183917134	chr7:78354186-78354187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188631807	chr7:78354194-78354195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556194415	chr7:78354202-78354203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564415101	chr7:78354214-78354215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576448712	chr7:78354220-78354221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78008114	chr7:78354230-78354231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10273632	chr7:78354243-78354244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572229261	chr7:78354269-78354270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546080644	chr7:78354277-78354278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540835712	chr7:78354289-78354290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10233033	chr7:78354300-78354301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs149069899	chr7:78354401-78354402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549808938	chr7:78354407-78354408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563331892	chr7:78354420-78354421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114404297	chr7:78354436-78354437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549639142	chr7:78354448-78354449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10230190	chr7:78354472-78354473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs1390822	chr7:78354494-78354495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535233124	chr7:78354496-78354497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548477671	chr7:78354519-78354520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143024984	chr7:78354526-78354527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191932120	chr7:78354567-78354568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114342778	chr7:78354582-78354583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10243772	chr7:78354617-78354618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538610532	chr7:78354655-78354656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10243883	chr7:78354688-78354689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	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
Pancreatic cancer	17952125	CNVD
Williams-beuren syndrome	16826523	CNVD
Schizophrenia	20838587	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
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
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78346800-78361400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:78353200-78354000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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