Variant report

Variant	esv3442227
Chromosome Location	chr7:96759578-96759665
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:96759570..96761270-chr7:96764442..96766982,2	K562	blood:
2	chr7:96759320..96762416-chr7:96764442..96769272,6	K562	blood:
3	chr7:96757705..96760493-chr7:96778782..96780656,2	K562	blood:
4	chr7:96745462..96747973-chr7:96759232..96761431,3	K562	blood:
5	chr7:96748869..96751979-chr7:96758718..96762589,5	K562	blood:

Variant related genes	Relation type
ENSG00000224551	chromatin interactions
ENSG00000196636	chromatin interactions

Extended variants
information (count: 5 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562796992	chr7:96759583-96759584	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs11410661	chr7:96759599-96759600	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs73708864	chr7:96759607-96759608	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139003828	chr7:96759642-96759643	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566217172	chr7:96759662-96759663	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	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
Prostate cancer	22341455	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96747400-96759800	Weak transcription	Spleen	Spleen
2	chr7:96747600-96768200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:96747800-96768200	Weak transcription	Aorta	Aorta
4	chr7:96748200-96759800	Weak transcription	Fetal Intestine Small	intestine
5	chr7:96748400-96767200	Weak transcription	Fetal Stomach	stomach
6	chr7:96748400-96768200	Weak transcription	Right Ventricle	heart
7	chr7:96748400-96768400	Weak transcription	Psoas Muscle	Psoas
8	chr7:96749000-96768200	Weak transcription	Right Atrium	heart
9	chr7:96749200-96759800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:96749200-96768000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:96749400-96768000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:96749400-96768200	Weak transcription	Primary T cells from cord blood	blood
13	chr7:96752400-96766000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:96755000-96766800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:96755000-96768000	Weak transcription	Adipose Nuclei	Adipose
16	chr7:96756000-96759600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:96756000-96762600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:96756200-96767800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:96756400-96765600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:96756600-96759600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:96756600-96766400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:96756600-96768000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:96756600-96768000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:96758200-96759600	Enhancers	K562	blood
25	chr7:96759000-96760000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr7:96759000-96760000	Enhancers	Esophagus	oesophagus
27	chr7:96759000-96760000	Enhancers	Lung	lung
28	chr7:96759000-96760000	Enhancers	Pancreas	Pancrea
29	chr7:96759000-96760200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:96759000-96760600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:96759200-96759600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:96759200-96759600	Weak transcription	Left Ventricle	heart
33	chr7:96759200-96760600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:96759200-96760600	Enhancers	HMEC	breast
35	chr7:96759200-96768400	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:96759400-96759800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:96759400-96759800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:96759400-96760000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:96759600-96759800	Genic enhancers	K562	blood
40	chr7:96759600-96760000	Weak transcription	Fetal Brain Female	brain
41	chr7:96759600-96760000	Enhancers	NHEK	skin
42	chr7:96759600-96760400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr7:96759600-96760400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:96759600-96760400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:96759600-96760400	Enhancers	Left Ventricle	heart

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