Variant report

Variant	esv1802388
Chromosome Location	chr3:115536488-115543891
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:115503109..115503905-chr3:115538714..115539251,2	MCF-7	breast:
2	chr3:114865311..114866250-chr3:115538474..115539205,2	MCF-7	breast:
3	chr11:41786030..41786550-chr3:115538707..115539310,4	MCF-7	breast:
4	chr3:114081376..114081975-chr3:115538427..115539222,2	MCF-7	breast:
5	chr3:115538349..115538909-chr3:115641300..115642205,2	MCF-7	breast:
6	chr2:16917893..16918716-chr3:115538393..115539009,2	MCF-7	breast:
7	chr3:114936378..114937048-chr3:115538321..115539367,3	K562	blood:
8	chr3:114810826..114811584-chr3:115538342..115539212,2	MCF-7	breast:
9	chr3:114546419..114546925-chr3:115538682..115539249,2	MCF-7	breast:
10	chr3:114102398..114103175-chr3:115538575..115539288,2	MCF-7	breast:
11	chr3:115538408..115539011-chr6:119558162..119559112,2	MCF-7	breast:
12	chr3:115532714..115535646-chr3:115536109..115538866,3	MCF-7	breast:
13	chr3:115501914..115505039-chr3:115538992..115541569,3	K562	blood:
14	chr14:21009535..21010055-chr3:115538661..115539225,3	MCF-7	breast:
15	chr3:114936072..114937081-chr3:115538338..115539235,5	MCF-7	breast:
16	chr3:115411462..115412193-chr3:115538778..115539306,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181722	chromatin interactions

Extended variants
information (count: 269 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535369293	chr3:115536582-115536583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374654034	chr3:115536651-115536652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557182803	chr3:115536671-115536672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529175517	chr3:115536675-115536676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569092531	chr3:115536693-115536694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547405375	chr3:115536779-115536780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376821226	chr3:115536782-115536783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560897475	chr3:115536811-115536812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529686852	chr3:115536825-115536826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144356875	chr3:115536858-115536859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147795864	chr3:115536898-115536899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569763805	chr3:115536950-115536951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74788267	chr3:115536956-115536957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139519367	chr3:115536976-115536977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77942762	chr3:115537073-115537074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535293949	chr3:115537076-115537077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553404085	chr3:115537082-115537083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145559506	chr3:115537171-115537172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151082473	chr3:115537176-115537177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563588844	chr3:115537179-115537180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141106283	chr3:115537183-115537184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149847495	chr3:115537195-115537196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528499942	chr3:115537197-115537198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547636197	chr3:115537214-115537215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71323416	chr3:115537246-115537247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs533114551	chr3:115537335-115537336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551591274	chr3:115537374-115537375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569899401	chr3:115537406-115537407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530606404	chr3:115537417-115537418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548826796	chr3:115537500-115537501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567217018	chr3:115537514-115537515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534329959	chr3:115537579-115537580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200161366	chr3:115537600-115537601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376219889	chr3:115537601-115537602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199597719	chr3:115537636-115537637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571981690	chr3:115537638-115537639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199610679	chr3:115537640-115537641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9836581	chr3:115537644-115537645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185861455	chr3:115537650-115537651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542744234	chr3:115537664-115537665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55828725	chr3:115537669-115537670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553582526	chr3:115537684-115537685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571602719	chr3:115537709-115537710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538989102	chr3:115537721-115537722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372330464	chr3:115537887-115537888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9820881	chr3:115537945-115537946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs547951632	chr3:115537946-115537947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540273024	chr3:115537956-115537957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543083442	chr3:115537976-115537977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554781328	chr3:115537978-115537979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115524600-115542000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:115524800-115538400	Weak transcription	HMEC	breast
3	chr3:115526600-115573200	Weak transcription	Brain Angular Gyrus	brain
4	chr3:115528400-115544200	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:115528600-115539600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:115529600-115547000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:115533800-115539000	Weak transcription	HepG2	liver
8	chr3:115534000-115543800	Weak transcription	Hela-S3	cervix
9	chr3:115536800-115537200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:115536800-115537400	Enhancers	NHEK	skin
11	chr3:115537200-115543600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:115537400-115542000	Weak transcription	NHEK	skin
13	chr3:115538400-115539000	Enhancers	HMEC	breast
14	chr3:115538600-115539200	Enhancers	Brain Substantia Nigra	brain
15	chr3:115539000-115539800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr3:115539000-115539800	Enhancers	HepG2	liver
17	chr3:115539000-115542000	Weak transcription	HMEC	breast
18	chr3:115539800-115541000	Weak transcription	HepG2	liver
19	chr3:115539800-115541600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:115541000-115544400	Enhancers	HepG2	liver
21	chr3:115541600-115542800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr3:115542000-115542200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:115542000-115542400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:115542000-115542400	Enhancers	A549	lung
25	chr3:115542000-115542400	Enhancers	HMEC	breast
26	chr3:115542000-115542800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:115542000-115543000	Enhancers	NHEK	skin
28	chr3:115542400-115543600	Weak transcription	HMEC	breast
29	chr3:115542400-115544000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:115542800-115543800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:115543000-115543400	Weak transcription	NHEK	skin
32	chr3:115543400-115545600	Enhancers	NHEK	skin
33	chr3:115543600-115544400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:115543600-115544600	Enhancers	HMEC	breast
35	chr3:115543600-115544600	Enhancers	NH-A	brain
36	chr3:115543800-115544400	Enhancers	Hela-S3	cervix
37	chr3:115543800-115544600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:115543800-115544600	Enhancers	Fetal Heart	heart

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