Variant report

Variant	nsv932880
Chromosome Location	chr7:103629581-103629880
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	chr7:103628555..103630772-chr7:103847007..103849982,2	K562	blood:
2	chr7:103559740..103561344-chr7:103627840..103629599,2	K562	blood:

Variant related genes	Relation type
ENSG00000164815	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555377051	chr7:103629581-103629582	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs370805443	chr7:103629615-103629616	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372475867	chr7:103629650-103629651	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs139648092	chr7:103629665-103629666	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375165806	chr7:103629674-103629675	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369522512	chr7:103629677-103629678	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149715692	chr7:103629691-103629692	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144557847	chr7:103629727-103629728	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370745351	chr7:103629736-103629737	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139532757	chr7:103629739-103629740	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs145135688	chr7:103629745-103629746	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557229008	chr7:103629748-103629749	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147551940	chr7:103629764-103629765	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115165703	chr7:103629778-103629779	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536610894	chr7:103629803-103629804	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs398124189	chr7:103629804-103629805	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs55656324	chr7:103629829-103629830	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs71154386	chr7:103629830-103629831	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	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
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	21147910	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103628600-103629600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:103628600-103630800	Active TSS	K562	blood
3	chr7:103628800-103630000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:103628800-103631000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:103629000-103629600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:103629000-103629600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:103629000-103629600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
8	chr7:103629000-103629600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
9	chr7:103629000-103629600	Enhancers	Pancreas	Pancrea
10	chr7:103629000-103629600	Active TSS	Right Atrium	heart
11	chr7:103629000-103629600	Bivalent/Poised TSS	HepG2	liver
12	chr7:103629000-103629800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr7:103629000-103629800	Bivalent Enhancer	Fetal Brain Male	brain
14	chr7:103629000-103630600	Bivalent/Poised TSS	Fetal Brain Female	brain
15	chr7:103629000-103630800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr7:103629000-103630800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr7:103629000-103631000	Active TSS	Brain Anterior Caudate	brain
18	chr7:103629000-103631000	Bivalent/Poised TSS	Fetal Stomach	stomach
19	chr7:103629000-103631000	Bivalent/Poised TSS	NHLF	lung
20	chr7:103629000-103631200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr7:103629000-103631200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr7:103629000-103631200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr7:103629000-103631400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr7:103629000-103631400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr7:103629200-103629600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:103629200-103629600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:103629200-103629600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
28	chr7:103629200-103629600	Flanking Bivalent TSS/Enh	Fetal Heart	heart
29	chr7:103629200-103629600	Bivalent/Poised TSS	Right Ventricle	heart
30	chr7:103629200-103629600	Bivalent/Poised TSS	NH-A	brain
31	chr7:103629200-103629800	Enhancers	Primary B cells from peripheral blood	blood
32	chr7:103629200-103629800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr7:103629200-103629800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
34	chr7:103629200-103629800	Bivalent Enhancer	Lung	lung
35	chr7:103629200-103629800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr7:103629200-103629800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
37	chr7:103629200-103630800	Bivalent/Poised TSS	Osteobl	bone
38	chr7:103629200-103631000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:103629200-103631200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr7:103629200-103631200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:103629200-103631200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:103629200-103631200	Active TSS	Brain Substantia Nigra	brain
43	chr7:103629200-103631400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr7:103629400-103629600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:103629400-103629600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr7:103629400-103629600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:103629400-103629600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:103629400-103629600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:103629400-103629600	Flanking Active TSS	Aorta	Aorta
50	chr7:103629400-103629600	Flanking Active TSS	Brain Angular Gyrus	brain

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