Variant report

Variant	esv3493183
Chromosome Location	chr1:171189993-171190434
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528939779	chr1:171190024-171190025	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs559479817	chr1:171190058-171190059	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs530233713	chr1:171190075-171190076	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186185577	chr1:171190094-171190095	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548891496	chr1:171190095-171190096	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550103425	chr1:171190103-171190104	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs536624531	chr1:171190104-171190105	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10912598	chr1:171190112-171190113	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs10912599	chr1:171190123-171190124	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs200714812	chr1:171190125-171190126	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs367633796	chr1:171190130-171190131	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs553314576	chr1:171190151-171190152	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs377204877	chr1:171190159-171190160	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs574640529	chr1:171190168-171190169	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs528383551	chr1:171190176-171190177	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs535697631	chr1:171190195-171190196	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs554757218	chr1:171190214-171190215	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs371294280	chr1:171190234-171190235	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs12727658	chr1:171190237-171190238	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs558821331	chr1:171190253-171190254	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs565248485	chr1:171190259-171190260	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs534782964	chr1:171190260-171190261	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs144696103	chr1:171190295-171190296	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs541279810	chr1:171190315-171190316	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs559666523	chr1:171190316-171190317	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs537297307	chr1:171190375-171190376	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs2179106	chr1:171190417-171190418	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548405398	chr1:171190427-171190428	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171186800-171190200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:171186800-171190200	Enhancers	Placenta	Placenta
3	chr1:171187200-171190400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:171187600-171190400	Enhancers	Stomach Mucosa	stomach
5	chr1:171187800-171190000	Enhancers	Brain Hippocampus Middle	brain
6	chr1:171187800-171191400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:171188000-171192200	Weak transcription	Pancreas	Pancrea
8	chr1:171188800-171190000	Enhancers	Aorta	Aorta
9	chr1:171188800-171190000	Enhancers	HSMM	muscle
10	chr1:171188800-171190200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:171189000-171190000	Enhancers	Fetal Brain Male	brain
12	chr1:171189000-171190400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:171189000-171190400	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:171189000-171191000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:171189000-171191600	Weak transcription	Small Intestine	intestine
16	chr1:171189200-171190000	Flanking Active TSS	HMEC	breast
17	chr1:171189200-171190000	Flanking Active TSS	Osteobl	bone
18	chr1:171189200-171190200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr1:171189200-171190200	Enhancers	Fetal Heart	heart
20	chr1:171189200-171190400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:171189200-171190400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:171189200-171190400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:171189200-171190600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr1:171189200-171192600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:171189400-171190000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:171189400-171190000	Flanking Active TSS	NH-A	brain
27	chr1:171189400-171190200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:171189400-171190200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:171189400-171190200	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr1:171189400-171190200	Flanking Active TSS	NHLF	lung
31	chr1:171189600-171190000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr1:171189600-171190000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:171189600-171190000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr1:171189600-171190000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr1:171189600-171190000	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr1:171189600-171190000	Active TSS	Fetal Kidney	kidney
37	chr1:171189600-171190000	Enhancers	HSMMtube	muscle
38	chr1:171189600-171190000	Flanking Active TSS	NHDF-Ad	bronchial
39	chr1:171189600-171190200	Active TSS	H9 Cell Line	embryonic stem cell
40	chr1:171189600-171190200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:171189600-171190200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:171189600-171190200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:171189600-171190200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:171189600-171190200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:171189600-171190200	Active TSS	Fetal Brain Female	brain
46	chr1:171189600-171190200	Active TSS	Fetal Intestine Large	intestine
47	chr1:171189600-171190200	Flanking Active TSS	Fetal Lung	lung
48	chr1:171189600-171190600	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr1:171189600-171191000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:171189600-171191200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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