Variant report

Variant	esv3433121
Chromosome Location	chr7:104603053-104603545
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104596381..104598506-chr7:104603345..104606110,2	K562	blood:
2	chr7:104601027..104603831-chr7:104652216..104655024,5	MCF-7	breast:
3	chr7:104601811..104603786-chr7:104606553..104608105,2	MCF-7	breast:
4	chr7:104591329..104593966-chr7:104601076..104603723,3	K562	blood:
5	chr7:104592416..104594450-chr7:104601446..104605080,3	K562	blood:
6	chr7:104595365..104601201-chr7:104602410..104607281,8	K562	blood:

Variant related genes	Relation type
ENSG00000005483	chromatin interactions
ENSG00000228393	chromatin interactions
ENSG00000239569	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6965384	chr7:104603112-104603113	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs56890093	chr7:104603113-104603114	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540829044	chr7:104603125-104603126	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs368496923	chr7:104603165-104603166	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs80147948	chr7:104603169-104603170	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs560613204	chr7:104603188-104603189	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs574039000	chr7:104603205-104603206	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs541400501	chr7:104603218-104603219	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs149130203	chr7:104603224-104603225	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs547602046	chr7:104603387-104603388	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs372184718	chr7:104603404-104603405	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs550377751	chr7:104603513-104603514	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs187601441	chr7:104603527-104603528	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	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
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104584600-104619000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104587200-104623600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:104591600-104604600	Weak transcription	Fetal Kidney	kidney
4	chr7:104595600-104605600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:104597200-104608200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:104597800-104606200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:104598000-104603400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:104598000-104619800	Weak transcription	Primary T cells from cord blood	blood
9	chr7:104598000-104621600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:104598200-104611600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:104598200-104620800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:104598200-104621400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:104598200-104623000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:104598400-104607600	Weak transcription	HSMM	muscle
15	chr7:104599000-104617200	Weak transcription	Gastric	stomach
16	chr7:104599200-104603800	Weak transcription	HepG2	liver
17	chr7:104599400-104603800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:104599400-104604200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:104599600-104603200	Weak transcription	Fetal Stomach	stomach
20	chr7:104600600-104603600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:104601000-104604000	Enhancers	GM12878-XiMat	blood
22	chr7:104601000-104604600	Enhancers	Primary hematopoietic stem cells	blood
23	chr7:104601000-104604600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:104601000-104604600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:104601000-104605400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:104601000-104605400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:104601200-104603200	Enhancers	Esophagus	oesophagus
28	chr7:104601200-104603200	Enhancers	Spleen	Spleen
29	chr7:104601200-104603400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr7:104601200-104604400	Enhancers	Fetal Thymus	thymus
31	chr7:104601200-104604400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr7:104601200-104604600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:104601200-104604800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:104601200-104605400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:104601200-104605400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:104601200-104605400	Enhancers	HMEC	breast
37	chr7:104601400-104604000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:104601400-104604800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:104601400-104605400	Enhancers	HUVEC	blood vessel
40	chr7:104601400-104605600	Enhancers	Stomach Smooth Muscle	stomach
41	chr7:104601400-104605800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:104601600-104604000	Weak transcription	Brain Anterior Caudate	brain
43	chr7:104601600-104604600	Enhancers	Lung	lung
44	chr7:104601800-104603800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:104601800-104603800	Weak transcription	NHLF	lung
46	chr7:104601800-104604000	Weak transcription	Brain Angular Gyrus	brain
47	chr7:104601800-104604000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:104601800-104604200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:104601800-104604200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr7:104601800-104604200	Weak transcription	Left Ventricle	heart

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