Variant report

Variant	esv2288146
Chromosome Location	chr3:24305854-24306276
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:24305072..24307020-chr3:24526305..24529102,2	K562	blood:
2	chr3:24305905..24306801-chr3:24537491..24538283,2	K562	blood:
3	chr3:24305304..24306760-chr3:24623707..24624748,5	MCF-7	breast:
4	chr3:24305746..24306763-chr3:24537733..24538685,3	MCF-7	breast:
5	chr3:24305947..24306863-chr3:24537889..24538429,2	MCF-7	breast:
6	chr3:24305546..24307619-chr3:24343999..24346600,2	MCF-7	breast:
7	chr3:24299984..24301754-chr3:24305650..24307661,2	K562	blood:
8	chr3:24049320..24050973-chr3:24303692..24306625,2	K562	blood:
9	chr3:24305982..24306914-chr3:24681528..24682464,3	MCF-7	breast:
10	chr3:24305621..24308372-chr3:24314750..24317719,2	K562	blood:
11	chr17:59493988..59494767-chr3:24306189..24306755,2	MCF-7	breast:
12	chr3:24108403..24110217-chr3:24304127..24305953,2	K562	blood:
13	chr3:24303622..24310321-chr3:24533981..24541253,19	MCF-7	breast:
14	chr3:24305596..24307842-chr3:24555614..24558189,2	K562	blood:
15	chr3:24305879..24306714-chr3:24400956..24401773,2	MCF-7	breast:
16	chr3:24304507..24306976-chr3:24398262..24401260,2	MCF-7	breast:
17	chr3:24305875..24306747-chr3:24681516..24682374,2	K562	blood:
18	chr3:24305923..24306824-chr3:24401700..24402457,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272554	chromatin interactions
ENSG00000228791	chromatin interactions
ENSG00000151090	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559438615	chr3:24305871-24305872	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs150941796	chr3:24305882-24305883	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs182187561	chr3:24305893-24305894	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs373068922	chr3:24305897-24305898	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs185823765	chr3:24305931-24305932	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs189903474	chr3:24305960-24305961	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs561537740	chr3:24305988-24305989	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs532059450	chr3:24305989-24305990	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs377384141	chr3:24305995-24305996	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs147118362	chr3:24306015-24306016	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs201667025	chr3:24306053-24306054	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs199628165	chr3:24306090-24306091	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs200751275	chr3:24306091-24306092	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs62253750	chr3:24306095-24306096	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs1847664	chr3:24306139-24306140	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1505291	chr3:24306179-24306180	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24295400-24306400	Weak transcription	HepG2	liver
2	chr3:24297200-24335000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:24302200-24313800	Weak transcription	Stomach Mucosa	stomach
4	chr3:24302600-24306000	Weak transcription	Fetal Intestine Small	intestine
5	chr3:24302600-24310800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:24302600-24312000	Weak transcription	Aorta	Aorta
7	chr3:24302800-24307800	Weak transcription	Psoas Muscle	Psoas
8	chr3:24304000-24310800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:24304400-24306200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:24305600-24310400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:24305600-24312200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:24305800-24306800	Enhancers	Colon Smooth Muscle	Colon
13	chr3:24306000-24306800	Enhancers	Fetal Intestine Small	intestine

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