Variant report

Variant	esv2476287
Chromosome Location	chr3:160520638-160522086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160521593..160523754-chr3:160526329..160528531,2	MCF-7	breast:
2	chr3:160518067..160520836-chr3:160522097..160523990,2	MCF-7	breast:
3	chr3:160513259..160516252-chr3:160518883..160520924,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188535149	chr3:160520737-160520738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545715346	chr3:160520739-160520740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566060831	chr3:160520755-160520756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528458791	chr3:160520822-160520823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548584373	chr3:160520846-160520847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568424415	chr3:160520852-160520853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546403034	chr3:160520866-160520867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556759108	chr3:160520867-160520868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76767966	chr3:160520897-160520898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79294540	chr3:160520947-160520948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7618082	chr3:160520986-160520987	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7639930	chr3:160521003-160521004	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560949125	chr3:160521095-160521096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143152570	chr3:160521116-160521117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17236655	chr3:160521120-160521121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148245362	chr3:160521161-160521162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141223163	chr3:160521172-160521173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181291837	chr3:160521203-160521204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554558381	chr3:160521258-160521259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574439071	chr3:160521273-160521274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540373173	chr3:160521283-160521284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543550923	chr3:160521291-160521292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563314176	chr3:160521295-160521296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532379278	chr3:160521315-160521316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546034279	chr3:160521398-160521399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368624316	chr3:160521409-160521410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528407456	chr3:160521467-160521468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548283169	chr3:160521544-160521545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73015481	chr3:160521565-160521566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530127455	chr3:160521600-160521601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145365240	chr3:160521668-160521669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191655680	chr3:160521672-160521673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542242766	chr3:160521683-160521684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117401933	chr3:160521709-160521710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539617421	chr3:160521721-160521722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560484350	chr3:160521736-160521737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566780953	chr3:160521737-160521738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200810862	chr3:160521744-160521745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536184692	chr3:160521766-160521767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554263500	chr3:160521776-160521777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527656166	chr3:160521791-160521792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574401414	chr3:160521843-160521844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552917576	chr3:160521851-160521852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372718213	chr3:160521854-160521855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536728510	chr3:160521862-160521863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369811380	chr3:160521867-160521868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557056773	chr3:160521910-160521911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577032528	chr3:160521956-160521957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571114829	chr3:160521996-160521997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545972643	chr3:160521997-160521998	Weak transcription	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160498400-160522600	Weak transcription	Right Ventricle	heart
2	chr3:160509000-160522600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:160513400-160522600	Weak transcription	Pancreas	Pancrea
4	chr3:160514400-160522600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:160515400-160526400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:160518800-160522800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:160519000-160521000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:160519200-160521000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:160519200-160521000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr3:160519200-160521000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr3:160519600-160521000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:160519600-160522400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:160519800-160521000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:160520000-160520800	Enhancers	Brain Cingulate Gyrus	brain
15	chr3:160520000-160521000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:160520000-160521000	Enhancers	Psoas Muscle	Psoas
17	chr3:160520000-160521000	Enhancers	Right Atrium	heart
18	chr3:160520200-160520800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:160520200-160521000	Enhancers	Primary T cells from cord blood	blood
20	chr3:160520200-160521000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:160520200-160521000	Enhancers	Colon Smooth Muscle	Colon
22	chr3:160520200-160521000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr3:160520200-160521200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr3:160520200-160522600	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:160520200-160522600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:160520200-160522600	Weak transcription	Fetal Brain Female	brain
27	chr3:160520200-160525800	Weak transcription	Liver	Liver
28	chr3:160520200-160526000	Weak transcription	Aorta	Aorta
29	chr3:160520200-160526000	Weak transcription	Brain Angular Gyrus	brain
30	chr3:160520200-160526400	Weak transcription	Stomach Mucosa	stomach
31	chr3:160520400-160520800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:160520400-160520800	Weak transcription	Placenta	Placenta
33	chr3:160520400-160521000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr3:160520400-160521000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr3:160520400-160521000	Enhancers	Stomach Smooth Muscle	stomach
36	chr3:160520400-160522000	Weak transcription	Fetal Heart	heart
37	chr3:160520400-160522400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:160520400-160522400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:160520400-160522600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:160520400-160522600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:160520400-160522600	Weak transcription	Gastric	stomach
42	chr3:160520400-160522600	Weak transcription	Left Ventricle	heart
43	chr3:160520400-160522600	Weak transcription	Lung	lung
44	chr3:160520400-160522600	Weak transcription	NHDF-Ad	bronchial
45	chr3:160520400-160526400	Weak transcription	Brain Anterior Caudate	brain
46	chr3:160520400-160529600	Weak transcription	Colonic Mucosa	Colon
47	chr3:160520600-160522400	Weak transcription	Adipose Nuclei	Adipose
48	chr3:160520800-160521000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:160520800-160521000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr3:160520800-160521000	Enhancers	Placenta	Placenta

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