Variant report

Variant	esv1560399
Chromosome Location	chr4:3310882-3311041
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	GABPA	chr4:3310751-3311022	HepG2	liver:	n/a	n/a
2	IRF4	chr4:3310744-3311101	GM12878	blood:	n/a	n/a
3	PAX5	chr4:3310731-3311045	GM12878	blood:	n/a	n/a
4	POU2F2	chr4:3310903-3311817	GM12878	blood:	n/a	n/a
5	REST	chr4:3310702-3311163	PANC-1	pancreas:	n/a	n/a
6	TAF1	chr4:3310654-3311250	HepG2	liver:	n/a	n/a
7	TCF3	chr4:3310840-3312098	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RGS12	TF binding region
ENSG00000248840	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76393538	chr4:3310883-3310884	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs368188960	chr4:3310911-3310912	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs13118415	chr4:3310928-3310929	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs372322346	chr4:3310941-3310942	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs13118577	chr4:3310963-3310964	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs13133291	chr4:3310965-3310966	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs13118591	chr4:3310981-3310982	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs371540144	chr4:3310994-3310995	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs570353390	chr4:3311002-3311003	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs376923774	chr4:3311017-3311018	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs13133323	chr4:3311018-3311019	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs539422388	chr4:3311024-3311025	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs13118624	chr4:3311034-3311035	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs370221511	chr4:3311038-3311039	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3296600-3318600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:3299600-3318600	Weak transcription	Aorta	Aorta
3	chr4:3301200-3350000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:3301600-3312400	Enhancers	Fetal Muscle Trunk	muscle
5	chr4:3304000-3313000	Weak transcription	HepG2	liver
6	chr4:3304800-3318600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:3306600-3312600	Enhancers	Lung	lung
8	chr4:3306600-3320600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:3306800-3312400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr4:3306800-3312800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr4:3307000-3320600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:3307200-3318000	Weak transcription	Liver	Liver
13	chr4:3307200-3327000	Weak transcription	Fetal Kidney	kidney
14	chr4:3307400-3312200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr4:3307400-3325600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:3307400-3326800	Weak transcription	A549	lung
17	chr4:3307600-3315000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:3307600-3322200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:3307600-3323000	Weak transcription	NH-A	brain
20	chr4:3307600-3323600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:3307800-3311600	Weak transcription	Fetal Intestine Large	intestine
22	chr4:3307800-3312200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:3307800-3319000	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:3308000-3311600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:3308000-3313400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:3308000-3318200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:3308000-3318600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr4:3308000-3319800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:3308000-3322800	Weak transcription	NHDF-Ad	bronchial
30	chr4:3308000-3323600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:3308000-3323800	Weak transcription	Osteobl	bone
32	chr4:3308000-3326000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:3308000-3327000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:3308200-3311800	Weak transcription	Psoas Muscle	Psoas
35	chr4:3308200-3314400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:3308200-3318400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:3308200-3318400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:3308200-3318600	Weak transcription	NHLF	lung
39	chr4:3308200-3319800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:3308200-3320400	Weak transcription	Fetal Heart	heart
41	chr4:3308200-3323200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:3308400-3314200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:3308400-3315000	Weak transcription	Primary T cells from cord blood	blood
44	chr4:3308400-3317800	Weak transcription	HSMM	muscle
45	chr4:3308400-3318200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr4:3308400-3318200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:3308400-3320200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:3308400-3321400	Weak transcription	Stomach Mucosa	stomach
49	chr4:3308600-3312400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:3308600-3317400	Weak transcription	Pancreas	Pancrea

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