Variant report

Variant	esv3391648
Chromosome Location	chr3:160602299-160620598
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160620374..160622809-chr3:160634406..160636878,2	MCF-7	breast:
2	chr3:160281146..160283028-chr3:160617867..160619821,2	K562	blood:
3	chr3:160283940..160285450-chr3:160615573..160617691,2	MCF-7	breast:

Extended variants
information (count: 632 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575824812	chr3:160602370-160602371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143880004	chr3:160602399-160602400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377054668	chr3:160602401-160602402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144233763	chr3:160602463-160602464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35682501	chr3:160602479-160602480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397777348	chr3:160602480-160602481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537676505	chr3:160602584-160602585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532168990	chr3:160602601-160602602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577920301	chr3:160602618-160602619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545365721	chr3:160602621-160602622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148489694	chr3:160602649-160602650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572833574	chr3:160602679-160602680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541935262	chr3:160602708-160602709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561727720	chr3:160602736-160602737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530771114	chr3:160602740-160602741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77352780	chr3:160602747-160602748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564329328	chr3:160602784-160602785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533289201	chr3:160602785-160602786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7636975	chr3:160602807-160602808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142676965	chr3:160602815-160602816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188753264	chr3:160602821-160602822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563868364	chr3:160602836-160602837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549503459	chr3:160602867-160602868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569343691	chr3:160602878-160602879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538388797	chr3:160602917-160602918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557950100	chr3:160602930-160602931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577881336	chr3:160602945-160602946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151001307	chr3:160602991-160602992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552527758	chr3:160603003-160603004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572839288	chr3:160603023-160603024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4679662	chr3:160603024-160603025	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs202017757	chr3:160603048-160603049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561779693	chr3:160603063-160603064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575250494	chr3:160603086-160603087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139930841	chr3:160603092-160603093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564292463	chr3:160603235-160603236	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs1447614	chr3:160603241-160603242	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs143326985	chr3:160603274-160603275	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs114002979	chr3:160603299-160603300	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs79247350	chr3:160603352-160603353	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs549118676	chr3:160603358-160603359	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs569304711	chr3:160603374-160603375	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs148819834	chr3:160603379-160603380	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs531726184	chr3:160603407-160603408	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs551543852	chr3:160603422-160603423	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs571535034	chr3:160603443-160603444	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs372544760	chr3:160603444-160603445	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs115196773	chr3:160603453-160603454	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs146707553	chr3:160603468-160603469	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs140287438	chr3:160603483-160603484	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	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
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160596400-160603800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr3:160598000-160603400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:160601400-160602600	Enhancers	Psoas Muscle	Psoas
4	chr3:160601600-160603200	Weak transcription	Left Ventricle	heart
5	chr3:160602000-160603200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr3:160602000-160603200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr3:160602200-160602400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:160602200-160604600	Enhancers	Fetal Thymus	thymus
9	chr3:160602200-160604600	Enhancers	Thymus	Thymus
10	chr3:160602400-160603200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:160602600-160603000	Weak transcription	Psoas Muscle	Psoas
12	chr3:160602800-160603200	Enhancers	Dnd41	blood
13	chr3:160602800-160603400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:160602800-160604400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:160602800-160604400	Enhancers	Brain Angular Gyrus	brain
16	chr3:160603000-160603400	Enhancers	Brain Hippocampus Middle	brain
17	chr3:160603000-160604000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:160603000-160604400	Enhancers	Psoas Muscle	Psoas
19	chr3:160603200-160603400	Enhancers	Brain Cingulate Gyrus	brain
20	chr3:160603200-160603400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr3:160603200-160603400	Enhancers	Fetal Muscle Trunk	muscle
22	chr3:160603200-160603600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr3:160603200-160603600	ZNF genes & repeats	Esophagus	oesophagus
24	chr3:160603200-160603600	Enhancers	Fetal Stomach	stomach
25	chr3:160603200-160603600	Enhancers	Right Atrium	heart
26	chr3:160603200-160603600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr3:160603200-160603800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr3:160603200-160603800	Enhancers	GM12878-XiMat	blood
29	chr3:160603200-160604000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:160603200-160604000	Flanking Active TSS	Dnd41	blood
31	chr3:160603200-160604200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:160603200-160604200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:160603200-160604200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr3:160603200-160604200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:160603200-160604200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:160603200-160604200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:160603200-160604200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr3:160603200-160604400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:160603200-160604400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:160603200-160604400	Enhancers	Adipose Nuclei	Adipose
41	chr3:160603200-160604400	Enhancers	Duodenum Mucosa	Duodenum
42	chr3:160603200-160604400	Enhancers	Left Ventricle	heart
43	chr3:160603200-160604600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:160603200-160604600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr3:160603200-160604600	Enhancers	Fetal Muscle Leg	muscle
46	chr3:160603200-160604600	Enhancers	Placenta	Placenta
47	chr3:160603400-160603600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr3:160603400-160603600	Enhancers	Brain Substantia Nigra	brain
49	chr3:160603400-160603600	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr3:160603400-160603800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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