Variant report

Variant	esv1803616
Chromosome Location	chr3:94487032-94538580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:94525826..94528541-chr3:94529089..94531852,2	K562	blood:
2	chr3:94525826..94528541-chr3:94529089..94531852,2	K562	blood:
3	chr3:94504783..94506940-chr3:94507538..94510163,2	MCF-7	breast:
4	chr3:94529128..94531189-chr3:94544772..94547073,2	MCF-7	breast:
5	chr3:94504783..94506940-chr3:94507538..94510163,2	MCF-7	breast:

Extended variants
information (count: 160 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548244086	chr3:94491211-94491212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545391590	chr3:94491215-94491216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565555158	chr3:94491232-94491233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9841084	chr3:94491288-94491289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370777640	chr3:94491289-94491290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59286802	chr3:94491311-94491312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531111828	chr3:94491374-94491375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9814299	chr3:94491398-94491399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs77921001	chr3:94491407-94491408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368739820	chr3:94491466-94491467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139243093	chr3:94491470-94491471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565562779	chr3:94491517-94491518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181961970	chr3:94491559-94491560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187423413	chr3:94491576-94491577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142439794	chr3:94491669-94491670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553392948	chr3:94491677-94491678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557185822	chr3:94491680-94491681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567430537	chr3:94491681-94491682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146372883	chr3:94491697-94491698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188981365	chr3:94491708-94491709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573188664	chr3:94491717-94491718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369981262	chr3:94491721-94491722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571337908	chr3:94491752-94491753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545361242	chr3:94491765-94491766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139716151	chr3:94491768-94491769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575522773	chr3:94491769-94491770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142904516	chr3:94491795-94491796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141415085	chr3:94506209-94506210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548834184	chr3:94506210-94506211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560663738	chr3:94506212-94506213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188768605	chr3:94506233-94506234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527869589	chr3:94506315-94506316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546756080	chr3:94506319-94506320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192476765	chr3:94506321-94506322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6766302	chr3:94506339-94506340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139645674	chr3:94506353-94506354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13324772	chr3:94506382-94506383	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs13314320	chr3:94506393-94506394	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs6780760	chr3:94506423-94506424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142836779	chr3:94506440-94506441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182152130	chr3:94506465-94506466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13324801	chr3:94506475-94506476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs186753744	chr3:94506500-94506501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146083909	chr3:94506514-94506515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577276064	chr3:94506526-94506527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571502028	chr3:94506545-94506546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538872613	chr3:94506588-94506589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373177230	chr3:94506617-94506618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557549636	chr3:94506620-94506621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79870811	chr3:94506624-94506625	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94491200-94491800	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr3:94506200-94507200	Enhancers	Fetal Brain Male	brain
3	chr3:94510000-94510600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:94529000-94529200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:94529600-94530600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:94530600-94531000	Enhancers	HUES48 Cell Line	embryonic stem cell

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