Variant report

Variant	esv3322539
Chromosome Location	chr3:160067584-160068152
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	chr3:160067410..160069516-chr3:160117023..160119352,2	K562	blood:

Variant related genes	Relation type
ENSG00000113810	chromatin interactions
ENSG00000068885	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550592799	chr3:160067645-160067646	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs75287449	chr3:160067705-160067706	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11917897	chr3:160067719-160067720	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564839710	chr3:160067755-160067756	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs77694107	chr3:160067762-160067763	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551185955	chr3:160067843-160067844	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs576862432	chr3:160067882-160067883	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs138332821	chr3:160067884-160067885	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs559369199	chr3:160067922-160067923	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs528024652	chr3:160067924-160067925	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs202194275	chr3:160067928-160067929	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs11918749	chr3:160067930-160067931	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs561536104	chr3:160067931-160067932	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs531812973	chr3:160067943-160067944	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs536506136	chr3:160067971-160067972	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs550306449	chr3:160067989-160067990	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs144349846	chr3:160068031-160068032	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs183547569	chr3:160068051-160068052	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs547424103	chr3:160068070-160068071	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs112378844	chr3:160068128-160068129	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs536219030	chr3:160068138-160068139	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159977800-160073000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:160025400-160073000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:160025600-160072000	Weak transcription	Thymus	Thymus
4	chr3:160025600-160073200	Weak transcription	Left Ventricle	heart
5	chr3:160034800-160082800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:160037000-160070200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:160049400-160090600	Weak transcription	NH-A	brain
8	chr3:160049800-160073200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:160054400-160091600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:160055200-160103400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:160055800-160072800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:160055800-160087800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:160056000-160070600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:160056200-160075200	Weak transcription	HSMM	muscle
15	chr3:160056200-160091000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:160056400-160070200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:160056400-160072000	Weak transcription	Brain Anterior Caudate	brain
18	chr3:160056400-160073000	Weak transcription	Fetal Stomach	stomach
19	chr3:160056400-160082800	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:160056400-160098000	Weak transcription	Aorta	Aorta
21	chr3:160056600-160072000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:160056600-160072000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:160056600-160072600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:160056600-160073200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:160056600-160082400	Weak transcription	Fetal Lung	lung
26	chr3:160056600-160082800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:160056600-160083200	Weak transcription	Fetal Intestine Small	intestine
28	chr3:160056600-160091600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:160057000-160070400	Weak transcription	Fetal Thymus	thymus
30	chr3:160057200-160072800	Weak transcription	Primary B cells from cord blood	blood
31	chr3:160057600-160072800	Weak transcription	Fetal Intestine Large	intestine
32	chr3:160058400-160088800	Weak transcription	Osteobl	bone
33	chr3:160058600-160073200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:160058800-160083200	Weak transcription	GM12878-XiMat	blood
35	chr3:160059000-160072200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr3:160059000-160072800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr3:160059400-160077200	Weak transcription	Lung	lung
38	chr3:160061000-160071800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:160061000-160071800	Weak transcription	Brain Hippocampus Middle	brain
40	chr3:160061400-160109600	Weak transcription	Fetal Heart	heart
41	chr3:160062000-160072800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr3:160062200-160072000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:160062400-160072800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:160062800-160073400	Weak transcription	A549	lung
45	chr3:160063000-160074400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:160063200-160072000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:160063400-160073600	Weak transcription	Pancreas	Pancrea
48	chr3:160063400-160094000	Weak transcription	Fetal Brain Female	brain
49	chr3:160064400-160067800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:160064400-160077800	Weak transcription	Spleen	Spleen

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