Variant report

Variant	esv2192397
Chromosome Location	chr3:119501306-119501307
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	POLR2A	chr3:119500639-119501542	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119498195..119499801-chr3:119500089..119502246,2	K562	blood:
2	chr3:119498195..119499776-chr3:119500089..119502545,2	K562	blood:

Variant related genes	Relation type
NR1I2	TF binding region
ENSG00000144852	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 58 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201206425	chr3:119501306-119501307	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs2276706	chr3:119501307-119501308	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

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
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
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
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119497800-119503000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr3:119499200-119501800	Weak transcription	K562	blood
3	chr3:119499200-119502000	Weak transcription	HSMMtube	muscle
4	chr3:119499600-119501600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr3:119499600-119501800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr3:119499600-119502800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:119500000-119503200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr3:119500200-119514400	Weak transcription	Small Intestine	intestine
9	chr3:119500400-119502400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:119500600-119502400	Active TSS	Colonic Mucosa	Colon
11	chr3:119500600-119502800	Active TSS	Fetal Intestine Small	intestine
12	chr3:119500600-119503400	Active TSS	Liver	Liver
13	chr3:119500600-119504000	Active TSS	Fetal Intestine Large	intestine
14	chr3:119500600-119504400	Active TSS	Duodenum Mucosa	Duodenum
15	chr3:119500800-119501400	Bivalent/Poised TSS	HepG2	liver
16	chr3:119501000-119501400	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr3:119501000-119501800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr3:119501000-119501800	Flanking Active TSS	Stomach Mucosa	stomach
19	chr3:119501000-119502000	Active TSS	Rectal Smooth Muscle	rectum
20	chr3:119501000-119502400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr3:119501200-119501400	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr3:119501200-119502000	Enhancers	HSMM	muscle

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