Variant report

Variant	esv3393414
Chromosome Location	chr3:141750346-141750721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr3:141750644-141751175	HL-60	blood:	n/a	n/a
2	SPI1	chr3:141750647-141751073	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141748723..141752115-chr3:141753472..141758138,4	MCF-7	breast:

Variant related genes	Relation type
TFDP2	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140986818	chr3:141750430-141750431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185512264	chr3:141750492-141750493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373906757	chr3:141750527-141750528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs963396	chr3:141750539-141750540	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs188194951	chr3:141750571-141750572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547338177	chr3:141750577-141750578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565743410	chr3:141750619-141750620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539886235	chr3:141750632-141750633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557990599	chr3:141750679-141750680	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	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
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141747400-141750800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr3:141747600-141750400	Weak transcription	Primary B cells from cord blood	blood
3	chr3:141747600-141750600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:141747600-141750600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr3:141747600-141750800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:141747600-141751600	Weak transcription	HSMM	muscle
7	chr3:141747600-141752200	Weak transcription	Fetal Intestine Large	intestine
8	chr3:141747600-141752400	Weak transcription	Fetal Intestine Small	intestine
9	chr3:141747600-141762600	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:141747600-141762800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:141747600-141773000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr3:141747600-141780400	Weak transcription	Left Ventricle	heart
13	chr3:141748200-141750600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:141748200-141753800	Weak transcription	Fetal Thymus	thymus
15	chr3:141748200-141754000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:141748200-141755200	Weak transcription	Aorta	Aorta
17	chr3:141748800-141758400	Weak transcription	Thymus	Thymus
18	chr3:141749000-141750800	Weak transcription	Dnd41	blood
19	chr3:141749000-141752200	Weak transcription	K562	blood
20	chr3:141750200-141750400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr3:141750200-141751400	Enhancers	Primary hematopoietic stem cells	blood
22	chr3:141750400-141750800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr3:141750400-141751000	Enhancers	Primary B cells from cord blood	blood
24	chr3:141750600-141751200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:141750600-141751200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr3:141750600-141751400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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