Variant report

Variant	esv3411539
Chromosome Location	chr3:145960251-145960628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535939954	chr3:145960280-145960281	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs553928416	chr3:145960296-145960297	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538209329	chr3:145960304-145960305	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs10737947	chr3:145960310-145960311	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546182379	chr3:145960398-145960399	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs538789698	chr3:145960405-145960406	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143344079	chr3:145960413-145960414	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557238789	chr3:145960434-145960435	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376482314	chr3:145960442-145960443	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576385643	chr3:145960447-145960448	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77514194	chr3:145960467-145960468	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116043147	chr3:145960474-145960475	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78992733	chr3:145960488-145960489	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558983798	chr3:145960491-145960492	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532879539	chr3:145960497-145960498	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35887016	chr3:145960508-145960509	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs36003152	chr3:145960511-145960512	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532020669	chr3:145960551-145960552	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371676963	chr3:145960566-145960567	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550253360	chr3:145960570-145960571	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62272060	chr3:145960571-145960572	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116150229	chr3:145960572-145960573	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374422929	chr3:145960573-145960574	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72992931	chr3:145960603-145960604	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

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
Bipolar disorder	18458673	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
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145948000-145967800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:145953200-145968000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:145954600-145962600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:145954600-145967800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:145955200-145962400	Weak transcription	Fetal Lung	lung
6	chr3:145956200-145964600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:145956800-145966600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:145958000-145965400	Weak transcription	Adipose Nuclei	Adipose
9	chr3:145958000-145966000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:145959400-145962800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:145959400-145966400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:145959600-145960400	Enhancers	HUVEC	blood vessel
13	chr3:145959800-145960400	ZNF genes & repeats	Fetal Stomach	stomach
14	chr3:145960000-145960800	Enhancers	Colon Smooth Muscle	Colon
15	chr3:145960000-145966400	Weak transcription	Ovary	ovary
16	chr3:145960200-145960400	Enhancers	Fetal Intestine Large	intestine
17	chr3:145960200-145960600	ZNF genes & repeats	NHDF-Ad	bronchial
18	chr3:145960200-145960600	Enhancers	Osteobl	bone
19	chr3:145960200-145967800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:145960400-145960800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr3:145960400-145963800	Weak transcription	HUVEC	blood vessel
22	chr3:145960400-145965400	Weak transcription	Fetal Stomach	stomach
23	chr3:145960400-145967800	Weak transcription	Fetal Intestine Large	intestine
24	chr3:145960600-145961800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:145960600-145962200	Weak transcription	NHDF-Ad	bronchial

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