Variant report

Variant	esv3341907
Chromosome Location	chr3:23984076-23984451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:23930082..23933040-chr3:23982116..23985334,3	K562	blood:
2	chr3:23954505..23971330-chr3:23977357..23992645,61	MCF-7	breast:
3	chr3:23956631..23966740-chr3:23975650..23993173,64	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174748	chromatin interactions
ENSG00000197885	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6790140	chr3:23984083-23984084	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6550819	chr3:23984133-23984134	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6550820	chr3:23984139-23984140	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533948741	chr3:23984157-23984158	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567629085	chr3:23984167-23984168	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375500442	chr3:23984169-23984170	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs555093578	chr3:23984200-23984201	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs189251366	chr3:23984206-23984207	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs191707995	chr3:23984207-23984208	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs11713246	chr3:23984229-23984230	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs577036996	chr3:23984239-23984240	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs540945982	chr3:23984275-23984276	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs184298780	chr3:23984293-23984294	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs529631033	chr3:23984358-23984359	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs547731661	chr3:23984361-23984362	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs541570623	chr3:23984419-23984420	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs80303063	chr3:23984430-23984431	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs562998779	chr3:23984435-23984436	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs76967231	chr3:23984436-23984437	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs80158063	chr3:23984447-23984448	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23962000-23985600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr3:23964200-23985000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:23976800-23985600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:23979000-23985200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:23979000-23985400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:23979200-23985600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:23980400-23985200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:23980400-23985800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:23980600-23985200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:23980600-23985200	Weak transcription	Fetal Lung	lung
11	chr3:23980800-23985200	Weak transcription	Fetal Heart	heart
12	chr3:23982200-23986000	Weak transcription	Right Atrium	heart
13	chr3:23983200-23985200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:23983400-23985200	Weak transcription	K562	blood

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