Variant report

Variant	nsv970483
Chromosome Location	chr7:56169231-56172955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:56047807..56050319-chr7:56171893..56174174,2	K562	blood:
2	chr7:56128361..56131760-chr7:56167519..56170434,3	K562	blood:
3	chr17:4566915..4567444-chr7:56171158..56171772,2	MCF-7	breast:
4	chr7:56171801..56173788-chr7:56307425..56310338,2	K562	blood:
5	chr7:56166954..56169953-chr7:56173700..56175335,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146729	chromatin interactions
ENSG00000106153	chromatin interactions
ENSG00000129103	chromatin interactions
ENSG00000146731	chromatin interactions

Extended variants
information (count: 158 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145505331	chr7:56169246-56169247	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs372792677	chr7:56169318-56169319	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs572813375	chr7:56169339-56169340	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs148884734	chr7:56169358-56169359	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs11546420	chr7:56169385-56169386	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs557190461	chr7:56169396-56169397	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs8406	chr7:56169419-56169420	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs4987075	chr7:56169430-56169431	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs549615616	chr7:56169469-56169470	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs569456060	chr7:56169478-56169479	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs35957514	chr7:56169498-56169499	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs4987183	chr7:56169499-56169500	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs202169344	chr7:56169500-56169501	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs367719210	chr7:56169509-56169510	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs188323175	chr7:56169514-56169515	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs200517035	chr7:56169531-56169532	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs373713260	chr7:56169566-56169567	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs543907603	chr7:56169579-56169580	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs199560793	chr7:56169594-56169595	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs529337133	chr7:56169598-56169599	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs145480423	chr7:56169605-56169606	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs370190372	chr7:56169607-56169608	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs375311630	chr7:56169608-56169609	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs547421937	chr7:56169653-56169654	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs559299485	chr7:56169656-56169657	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs77895701	chr7:56169672-56169673	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs112334416	chr7:56169673-56169674	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs537049598	chr7:56169674-56169675	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs137990145	chr7:56169698-56169699	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs570632868	chr7:56169711-56169712	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs180739099	chr7:56169730-56169731	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs185784001	chr7:56169778-56169779	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs368905217	chr7:56169796-56169797	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs576999028	chr7:56169926-56169927	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs535530305	chr7:56170004-56170005	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs553833895	chr7:56170027-56170028	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs57427081	chr7:56170041-56170042	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs397729338	chr7:56170055-56170056	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs75575757	chr7:56170056-56170057	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs189953840	chr7:56170071-56170072	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs141120984	chr7:56170073-56170074	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs144832700	chr7:56170074-56170075	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs148310657	chr7:56170145-56170146	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs576583097	chr7:56170152-56170153	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs181219492	chr7:56170275-56170276	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs561929857	chr7:56170311-56170312	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs573822488	chr7:56170370-56170371	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs541097794	chr7:56170406-56170407	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs374153434	chr7:56170415-56170416	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs533113693	chr7:56170419-56170420	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56147400-56169800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:56158200-56173200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:56160800-56170400	Weak transcription	Fetal Brain Male	brain
4	chr7:56161000-56173000	Weak transcription	Fetal Heart	heart
5	chr7:56161200-56169600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:56161200-56173000	Weak transcription	Right Atrium	heart
7	chr7:56164000-56172800	Strong transcription	Fetal Stomach	stomach
8	chr7:56164200-56171600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:56164200-56172000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:56164200-56172600	Strong transcription	Fetal Intestine Small	intestine
11	chr7:56165000-56172200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:56165200-56172000	Strong transcription	Fetal Brain Female	brain
13	chr7:56165200-56172800	Strong transcription	Thymus	Thymus
14	chr7:56165400-56171400	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:56165400-56172000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:56165400-56172200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:56165400-56172200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:56165400-56172400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:56166000-56171800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:56166200-56172200	Strong transcription	Fetal Intestine Large	intestine
21	chr7:56166200-56172200	Strong transcription	Fetal Thymus	thymus
22	chr7:56166200-56172600	Strong transcription	Fetal Muscle Leg	muscle
23	chr7:56166400-56170400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:56166400-56172200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:56166600-56171200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:56166800-56171600	Strong transcription	Colon Smooth Muscle	Colon
27	chr7:56166800-56171600	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:56166800-56171800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:56166800-56172000	Strong transcription	Lung	lung
30	chr7:56167000-56171200	Strong transcription	Dnd41	blood
31	chr7:56167000-56171400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:56167000-56171800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:56167000-56171800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr7:56167000-56172000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:56167000-56172000	Strong transcription	Primary B cells from cord blood	blood
36	chr7:56167000-56172000	Strong transcription	Primary T cells from cord blood	blood
37	chr7:56167000-56172000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr7:56167000-56172000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:56167000-56172000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr7:56167000-56172000	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:56167000-56172200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:56167000-56172200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:56167000-56172200	Strong transcription	Ovary	ovary
44	chr7:56167000-56172200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr7:56167000-56172600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:56167000-56172800	Strong transcription	A549	lung
47	chr7:56167000-56173200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:56167200-56170800	Strong transcription	Fetal Kidney	kidney
49	chr7:56167200-56171400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:56167200-56171400	Strong transcription	Brain Hippocampus Middle	brain

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