Variant report

Variant	esv1037332
Chromosome Location	chr3:119356971-119356972
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	ATF1	chr3:119356802-119357163	K562	blood:	n/a	n/a
2	ATF2	chr3:119356719-119358867	GM12878	blood:	n/a	n/a
3	ATF2	chr3:119356350-119357387	GM12878	blood:	n/a	n/a
4	BATF	chr3:119356671-119357365	GM12878	blood:	n/a	n/a
5	BATF	chr3:119356745-119357371	GM12878	blood:	n/a	n/a
6	BCL11A	chr3:119356697-119357350	GM12878	blood:	n/a	n/a
7	BCLAF1	chr3:119356747-119358229	GM12878	blood:	n/a	chr3:119358021-119358030
8	BCLAF1	chr3:119356768-119358811	GM12878	blood:	n/a	chr3:119358550-119358559 chr3:119358021-119358030 chr3:119358549-119358558
9	BHLHE40	chr3:119356827-119358449	GM12878	blood:	n/a	n/a
10	BHLHE40	chr3:119356755-119357186	K562	blood:	n/a	n/a
11	CCNT2	chr3:119356881-119358023	K562	blood:	n/a	chr3:119357579-119357588
12	CEBPB	chr3:119356654-119358982	GM12878	blood:	n/a	chr3:119357855-119357866 chr3:119357854-119357867
13	CHD1	chr3:119356809-119358320	GM12878	blood:	n/a	n/a
14	CHD2	chr3:119356906-119358581	GM12878	blood:	n/a	n/a
15	CREB1	chr3:119356463-119358897	GM12878	blood:	n/a	n/a
16	CUX1	chr3:119356647-119357266	K562	blood:	n/a	n/a
17	E2F4	chr3:119356828-119357014	MCF10A-Er-Src	breast:	n/a	n/a
18	EBF1	chr3:119356776-119358177	GM12878	blood:	n/a	n/a
19	EBF1	chr3:119356905-119358599	GM12878	blood:	n/a	n/a
20	EP300	chr3:119356822-119357380	GM12878	blood:	n/a	chr3:119356957-119356971 chr3:119356958-119356972
21	EP300	chr3:119356631-119357381	SK-N-SH_RA	brain:	n/a	chr3:119356957-119356971 chr3:119356958-119356972
22	EP300	chr3:119355708-119359660	SK-N-SH	brain:	n/a	chr3:119358021-119358035 chr3:119358549-119358558 chr3:119357930-119357938 chr3:119356957-119356971 chr3:119356958-119356972
23	EP300	chr3:119356652-119358660	GM12878	blood:	n/a	chr3:119358021-119358035 chr3:119358549-119358558 chr3:119357930-119357938 chr3:119356957-119356971 chr3:119356958-119356972
24	EP300	chr3:119356506-119357333	SK-N-SH	brain:	n/a	chr3:119356957-119356971 chr3:119356958-119356972
25	EP300	chr3:119356972-119357376	GM12878	blood:	n/a	n/a
26	EP300	chr3:119356584-119357282	SK-N-SH_RA	brain:	n/a	chr3:119356957-119356971 chr3:119356958-119356972
27	EP300	chr3:119356419-119357518	SK-N-SH	brain:	n/a	chr3:119356957-119356971 chr3:119356958-119356972
28	EP300	chr3:119356696-119357291	K562	blood:	n/a	chr3:119356957-119356971 chr3:119356958-119356972
29	FOS	chr3:119356697-119357105	MCF10A-Er-Src	breast:	n/a	chr3:119356921-119356932
30	FOS	chr3:119356698-119357204	HUVEC	blood vessel:	n/a	chr3:119356921-119356932
31	FOS	chr3:119356684-119357140	MCF10A-Er-Src	breast:	n/a	chr3:119356921-119356932
32	FOS	chr3:119356761-119357104	MCF10A-Er-Src	breast:	n/a	chr3:119356921-119356932
33	FOS	chr3:119356704-119357124	MCF10A-Er-Src	breast:	n/a	chr3:119356921-119356932
34	FOSL1	chr3:119356619-119357222	HCT-116	colon:	n/a	n/a
35	FOSL2	chr3:119356632-119357221	A549	lung:	n/a	n/a
36	FOSL2	chr3:119356488-119357404	SK-N-SH	brain:	n/a	n/a
37	FOSL2	chr3:119356693-119357274	SK-N-SH	brain:	n/a	n/a
38	FOXM1	chr3:119356597-119357375	SK-N-SH	brain:	n/a	n/a
39	FOXM1	chr3:119356553-119359017	GM12878	blood:	n/a	chr3:119358106-119358114
40	FOXM1	chr3:119356640-119358742	GM12878	blood:	n/a	chr3:119358106-119358114
41	GATA1	chr3:119356391-119357306	K562	blood:	n/a	chr3:119357125-119357135 chr3:119357061-119357071
42	GATA2	chr3:119356439-119357261	SH-SY5Y	brain:	n/a	chr3:119357125-119357135 chr3:119357061-119357071
43	GATA2	chr3:119356757-119357311	HUVEC	blood vessel:	n/a	chr3:119357125-119357135 chr3:119357061-119357071
44	GATA3	chr3:119356512-119359281	SK-N-SH	brain:	n/a	chr3:119357125-119357135 chr3:119357061-119357071
45	GATA3	chr3:119356390-119359464	SK-N-SH	brain:	n/a	chr3:119357125-119357135 chr3:119357061-119357071
46	GATA3	chr3:119356866-119357240	SH-SY5Y	brain:	n/a	chr3:119357125-119357135 chr3:119357061-119357071
47	IKZF1	chr3:119356654-119358681	GM12878	blood:	n/a	n/a
48	IRF1	chr3:119356838-119357283	K562	blood:	n/a	chr3:119357166-119357180 chr3:119357169-119357186
49	IRF4	chr3:119356731-119357406	GM12878	blood:	n/a	n/a
50	JUN	chr3:119356390-119357329	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:119356916..119358623-chr3:119366628..119369264,2	K562	blood:
2	chr3:119180931..119183365-chr3:119356123..119357901,2	MCF-7	breast:
3	chr3:119344313..119346275-chr3:119356031..119358042,2	K562	blood:

Variant related genes	Relation type
ENSG00000242052	TF binding region
ENSG00000176142	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 58 )

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	rs35047750	chr3:119356972-119356973	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119340800-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:119341400-119364600	Weak transcription	Liver	Liver
3	chr3:119345200-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:119349400-119357600	Weak transcription	Fetal Intestine Small	intestine
5	chr3:119349600-119357000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:119349800-119357000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:119349800-119378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:119352000-119357400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:119352000-119378600	Weak transcription	Thymus	Thymus
10	chr3:119352600-119367000	Weak transcription	Ovary	ovary
11	chr3:119353800-119359000	Strong transcription	Stomach Smooth Muscle	stomach
12	chr3:119354000-119358000	Enhancers	Fetal Heart	heart
13	chr3:119354000-119358600	Enhancers	Left Ventricle	heart
14	chr3:119354000-119358800	Enhancers	Placenta	Placenta
15	chr3:119354000-119387600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:119354400-119358400	Enhancers	Adipose Nuclei	Adipose
17	chr3:119354400-119358400	Enhancers	Right Atrium	heart
18	chr3:119354400-119358800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr3:119354600-119357800	Enhancers	Psoas Muscle	Psoas
20	chr3:119354600-119358400	Enhancers	HUVEC	blood vessel
21	chr3:119354800-119358400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:119354800-119358400	Enhancers	HSMM	muscle
23	chr3:119354800-119358600	Enhancers	Small Intestine	intestine
24	chr3:119354800-119358600	Enhancers	HMEC	breast
25	chr3:119354800-119360400	Weak transcription	Lung	lung
26	chr3:119355000-119357000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr3:119355000-119357000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr3:119355000-119357600	Weak transcription	Esophagus	oesophagus
29	chr3:119355000-119357600	Weak transcription	Fetal Stomach	stomach
30	chr3:119355000-119358000	Enhancers	Spleen	Spleen
31	chr3:119355000-119358200	Enhancers	HSMMtube	muscle
32	chr3:119355000-119358200	Enhancers	NHLF	lung
33	chr3:119355000-119358400	Enhancers	K562	blood
34	chr3:119355200-119358200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr3:119355400-119358600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr3:119355400-119361000	Weak transcription	Pancreas	Pancrea
37	chr3:119355600-119357000	Enhancers	Right Ventricle	heart
38	chr3:119355800-119357400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:119356000-119358600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:119356200-119358000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:119356200-119360200	Weak transcription	Primary T cells from cord blood	blood
42	chr3:119356200-119360800	Weak transcription	Brain Hippocampus Middle	brain
43	chr3:119356200-119389000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:119356400-119357200	Enhancers	Colon Smooth Muscle	Colon
45	chr3:119356400-119357400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:119356400-119358000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:119356400-119358000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:119356400-119358000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:119356400-119358000	Enhancers	Fetal Muscle Leg	muscle
50	chr3:119356400-119358200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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