Variant report

Variant	esv2237523
Chromosome Location	chr2:73286589-73287240
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	MAFK	chr2:73286866-73287053	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:73286172-73286972	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:73275749..73277382-chr2:73286983..73288785,2	K562	blood:
2	chr2:73284849..73288387-chr2:73297041..73300553,5	K562	blood:
3	chr2:73287037..73289091-chr2:73298093..73299676,2	MCF-7	breast:

Variant related genes	Relation type
SFXN5	TF binding region
ENSG00000144040	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550826619	chr2:73286662-73286663	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs188279311	chr2:73286667-73286668	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543212363	chr2:73286698-73286699	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs113996436	chr2:73286701-73286702	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs544684048	chr2:73286710-73286711	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs550208185	chr2:73286882-73286883	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs569330254	chr2:73286905-73286906	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs77574992	chr2:73286907-73286908	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs563067394	chr2:73287001-73287002	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs112679211	chr2:73287041-73287042	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs374376383	chr2:73287177-73287178	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs111828119	chr2:73287190-73287191	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs13406318	chr2:73287225-73287226	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
2	chr2:73249600-73290000	Weak transcription	NHLF	lung
3	chr2:73256800-73290000	Weak transcription	HSMM	muscle
4	chr2:73259200-73291200	Weak transcription	Small Intestine	intestine
5	chr2:73262800-73290600	Weak transcription	NHEK	skin
6	chr2:73264200-73290600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:73267800-73289400	Weak transcription	K562	blood
8	chr2:73268600-73289400	Weak transcription	Right Ventricle	heart
9	chr2:73272600-73291200	Weak transcription	Fetal Heart	heart
10	chr2:73275800-73297000	Weak transcription	Pancreas	Pancrea
11	chr2:73277800-73290400	Weak transcription	HMEC	breast
12	chr2:73277800-73290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:73277800-73291200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:73281200-73289800	Weak transcription	NHDF-Ad	bronchial
15	chr2:73284200-73287000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:73284200-73290000	Weak transcription	Hela-S3	cervix
17	chr2:73284600-73286800	Strong transcription	HepG2	liver
18	chr2:73284600-73290000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:73284600-73290600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:73284600-73296600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:73284800-73290200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:73284800-73296400	Weak transcription	Fetal Kidney	kidney
23	chr2:73285000-73289200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:73285000-73289400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:73285000-73289400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:73285000-73289600	Weak transcription	Fetal Lung	lung
27	chr2:73285000-73289800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:73285000-73290000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:73285000-73290000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:73285000-73290600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:73285000-73290600	Weak transcription	HSMMtube	muscle
32	chr2:73285000-73290800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:73285000-73291200	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:73285000-73291200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:73285000-73291200	Weak transcription	Lung	lung
36	chr2:73285000-73291200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:73285000-73291200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr2:73285000-73295600	Weak transcription	Primary B cells from cord blood	blood
39	chr2:73285000-73295800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:73285000-73296000	Weak transcription	Adipose Nuclei	Adipose
41	chr2:73285000-73296000	Weak transcription	Gastric	stomach
42	chr2:73285000-73296000	Weak transcription	Thymus	Thymus
43	chr2:73285000-73296600	Weak transcription	Placenta	Placenta
44	chr2:73285000-73296600	Weak transcription	Ovary	ovary
45	chr2:73285200-73289600	Weak transcription	NH-A	brain
46	chr2:73285200-73290000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:73285200-73290000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:73285200-73290600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:73285200-73290600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:73285200-73290800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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