Variant report

Variant	esv1982891
Chromosome Location	chr3:121552491-121552493
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	GATA3	chr3:121552277-121552749	SH-SY5Y	brain:	n/a	chr3:121552549-121552558 chr3:121552546-121552562 chr3:121552516-121552523 chr3:121552549-121552559 chr3:121552551-121552558 chr3:121552551-121552558 chr3:121552544-121552565 chr3:121552551-121552558 chr3:121552546-121552562
2	KAP1	chr3:121552210-121552627	K562	blood:	n/a	chr3:121552256-121552264 chr3:121552585-121552593
3	POLR2A	chr3:121551766-121552542	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:121552093..121553677-chr3:122102440..122104911,2	K562	blood:
2	chr3:121552259..121553812-chr3:121688554..121691121,2	MCF-7	breast:
3	chr3:121523456..121525541-chr3:121550635..121553696,3	K562	blood:

Variant related genes	Relation type
EAF2	TF binding region
ENSG00000114023	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 55 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9834039	chr3:121552492-121552493	Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:55)

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
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
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121491600-121552600	Weak transcription	NHLF	lung
2	chr3:121528000-121553000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:121530800-121552800	Weak transcription	HSMMtube	muscle
4	chr3:121530800-121553000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:121530800-121553200	Weak transcription	Esophagus	oesophagus
6	chr3:121531000-121552800	Weak transcription	Fetal Stomach	stomach
7	chr3:121531000-121552800	Weak transcription	Pancreas	Pancrea
8	chr3:121531000-121552800	Weak transcription	Right Ventricle	heart
9	chr3:121531000-121552800	Weak transcription	Spleen	Spleen
10	chr3:121536200-121552800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:121537200-121552600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:121537400-121552800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:121539800-121552600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:121539800-121552600	Strong transcription	HSMM	muscle
15	chr3:121541200-121553000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:121541400-121552800	Weak transcription	Aorta	Aorta
17	chr3:121541600-121552800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:121542200-121552800	Weak transcription	Left Ventricle	heart
19	chr3:121542800-121553200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:121543000-121553400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr3:121543200-121552600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:121543200-121552800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:121543200-121552800	Weak transcription	Fetal Intestine Small	intestine
24	chr3:121543200-121553200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:121543200-121553200	Weak transcription	Lung	lung
26	chr3:121544000-121553000	Weak transcription	Ovary	ovary
27	chr3:121544400-121553200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr3:121545600-121552600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:121545600-121552800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:121545600-121552800	Weak transcription	Fetal Brain Male	brain
31	chr3:121546400-121552800	Weak transcription	Colonic Mucosa	Colon
32	chr3:121546600-121552600	Weak transcription	Brain Anterior Caudate	brain
33	chr3:121546600-121552600	Weak transcription	Brain Germinal Matrix	brain
34	chr3:121546800-121552800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:121547200-121552600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr3:121547400-121552800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr3:121547400-121552800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:121547400-121552800	Weak transcription	Fetal Brain Female	brain
39	chr3:121547400-121552800	Weak transcription	Fetal Kidney	kidney
40	chr3:121547400-121552800	Weak transcription	NH-A	brain
41	chr3:121547600-121552800	Weak transcription	Adipose Nuclei	Adipose
42	chr3:121548000-121552800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr3:121548200-121552800	Weak transcription	Liver	Liver
44	chr3:121548200-121553000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:121548600-121552800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:121549200-121552800	Weak transcription	Thymus	Thymus
47	chr3:121550200-121552800	Weak transcription	Psoas Muscle	Psoas
48	chr3:121550600-121552800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:121550800-121552800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr3:121551000-121552600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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