Variant report

Variant	esv33855
Chromosome Location	chr7:66419946-66421540
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66415946..66417967-chr7:66421383..66424025,2	K562	blood:
2	chr7:66419753..66422716-chr7:66459717..66461660,2	K562	blood:
3	chr7:66414176..66416648-chr7:66419032..66420913,2	K562	blood:
4	chr7:66415946..66418583-chr7:66421177..66424025,3	K562	blood:

Variant related genes	Relation type
ENSG00000198874	chromatin interactions
ENSG00000126524	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577998925	chr7:66419988-66419989	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368988607	chr7:66420013-66420014	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs112085221	chr7:66420015-66420016	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs62466580	chr7:66420041-66420042	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557454499	chr7:66420042-66420043	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs182818135	chr7:66420047-66420048	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs115805090	chr7:66420053-66420054	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs113446825	chr7:66420054-66420055	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573101236	chr7:66420055-66420056	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs114560707	chr7:66420117-66420118	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs565424396	chr7:66420130-66420131	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs530556836	chr7:66420143-66420144	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550280035	chr7:66420170-66420171	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561055960	chr7:66420217-66420218	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs529772669	chr7:66420236-66420237	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs546819489	chr7:66420237-66420238	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs140723594	chr7:66420242-66420243	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs538823604	chr7:66420283-66420284	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552477106	chr7:66420302-66420303	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs144460728	chr7:66420303-66420304	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs537473686	chr7:66420305-66420306	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs145206522	chr7:66420347-66420348	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573801765	chr7:66420358-66420359	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs369328647	chr7:66420376-66420377	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs545081331	chr7:66420382-66420383	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs536397278	chr7:66420395-66420396	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs553043559	chr7:66420410-66420411	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs187194068	chr7:66420429-66420430	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs372771400	chr7:66420458-66420459	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs565369013	chr7:66420482-66420483	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376802951	chr7:66420517-66420518	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs369682030	chr7:66420518-66420519	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs545249952	chr7:66420535-66420536	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs199710120	chr7:66420537-66420538	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs575816017	chr7:66420608-66420609	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs544203656	chr7:66420618-66420619	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs191949278	chr7:66420696-66420697	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs529707393	chr7:66420708-66420709	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs149129376	chr7:66420715-66420716	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs183013676	chr7:66420743-66420744	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs532365136	chr7:66420751-66420752	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs552056902	chr7:66420783-66420784	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs76231377	chr7:66420820-66420821	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs187605240	chr7:66420823-66420824	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs548463247	chr7:66420855-66420856	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs565899672	chr7:66420857-66420858	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs113938327	chr7:66420903-66420904	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs148319644	chr7:66420939-66420940	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs115464709	chr7:66420940-66420941	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs539238536	chr7:66420963-66420964	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66387600-66428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:66393800-66422200	Weak transcription	Fetal Heart	heart
3	chr7:66400600-66426400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:66402400-66424200	Strong transcription	Dnd41	blood
5	chr7:66403000-66424800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:66403400-66424400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:66403400-66426000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr7:66403400-66426400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:66403600-66424600	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr7:66403600-66425600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:66403600-66426400	Strong transcription	Thymus	Thymus
12	chr7:66403600-66426600	Strong transcription	Fetal Stomach	stomach
13	chr7:66403800-66425200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr7:66403800-66425800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr7:66405000-66424600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:66405200-66422800	Strong transcription	Fetal Muscle Leg	muscle
17	chr7:66406000-66426400	Strong transcription	Fetal Thymus	thymus
18	chr7:66406200-66421400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:66406200-66423800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:66406400-66424400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:66406400-66425000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:66406600-66425800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:66406600-66425800	Strong transcription	Liver	Liver
24	chr7:66406600-66425800	Strong transcription	Fetal Brain Female	brain
25	chr7:66406600-66426400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr7:66406800-66422400	Strong transcription	Left Ventricle	heart
27	chr7:66406800-66422600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:66406800-66425200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr7:66406800-66425800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:66406800-66425800	Strong transcription	Adipose Nuclei	Adipose
31	chr7:66406800-66426000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr7:66406800-66426000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:66407000-66424600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:66407400-66424200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:66408000-66420600	Weak transcription	Fetal Brain Male	brain
36	chr7:66408000-66423800	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr7:66408000-66425000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:66409400-66425800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:66409800-66425800	Strong transcription	Brain Germinal Matrix	brain
40	chr7:66411400-66425400	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:66412200-66424600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:66412400-66423200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr7:66412600-66421000	Strong transcription	Right Ventricle	heart
44	chr7:66412800-66422200	Strong transcription	Ovary	ovary
45	chr7:66412800-66424200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:66413000-66421000	Strong transcription	Pancreas	Pancrea
47	chr7:66413200-66421000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:66413800-66420000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:66414000-66425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:66414600-66420400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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