Variant report

Variant	esv2612812
Chromosome Location	chr4:754218-754227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:754068-754963	U87	brain:	n/a	n/a
2	POLR2A	chr4:754068-754979	U87	brain:	n/a	n/a
3	POLR2A	chr4:754105-761557	K562	blood:	n/a	n/a
4	POLR2A	chr4:753734-759040	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr4:753739-764687	K562	blood:	n/a	n/a
6	POLR2A	chr4:753789-754734	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:754168-754307	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr4:754022-754336	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr4:753719-754252	U87	brain:	n/a	n/a
10	POLR2A	chr4:753802-754258	HepG2	liver:	n/a	n/a
11	POLR2A	chr4:753019-754283	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:749591..753567-chr4:753955..757140,4	MCF-7	breast:
2	chr4:741902..744115-chr4:754225..756300,2	MCF-7	breast:
3	chr4:593904..597020-chr4:753917..757326,3	MCF-7	breast:
4	chr4:666788..669425-chr4:753705..755956,2	K562	blood:
5	chr4:745562..749408-chr4:752726..755779,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPLX1-4	chr4:753969-754335	predAs_ge08_PCGF3_2

No data

Variant related genes	Relation type
ENSG00000272588	TF binding region
ENSG00000272588	chromatin interactions
ENSG00000169020	chromatin interactions
ENSG00000215375	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 66 )

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	rs139019156	chr4:754218-754219	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs201748476	chr4:754220-754221	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Breast cancer	17142309	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	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	chr4:702200-754800	Weak transcription	Hela-S3	cervix
2	chr4:727000-767600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:728600-755800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:728600-763400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:729000-754600	Weak transcription	Fetal Kidney	kidney
6	chr4:729000-762600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:729600-760800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:742600-754400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:742600-763600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:742800-756200	Weak transcription	Stomach Mucosa	stomach
11	chr4:742800-764000	Weak transcription	Small Intestine	intestine
12	chr4:744200-754800	Weak transcription	NHEK	skin
13	chr4:744400-763400	Weak transcription	Right Atrium	heart
14	chr4:745400-754800	Weak transcription	NHDF-Ad	bronchial
15	chr4:746000-754400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr4:746000-773800	Weak transcription	Fetal Brain Male	brain
17	chr4:746200-754400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr4:746200-758600	Weak transcription	Brain Anterior Caudate	brain
19	chr4:747000-754400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:747000-756400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:747200-754400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr4:748200-763400	Weak transcription	Brain Substantia Nigra	brain
23	chr4:749000-754400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:749000-754400	Weak transcription	Right Ventricle	heart
25	chr4:749000-754600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:749200-754400	Weak transcription	Left Ventricle	heart
27	chr4:749400-754400	Weak transcription	Esophagus	oesophagus
28	chr4:749400-754400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:749400-754400	Weak transcription	Spleen	Spleen
30	chr4:749400-754600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:749400-755800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:749600-754400	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:749600-754400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr4:749600-754800	Weak transcription	NH-A	brain
35	chr4:750200-754400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:751200-754400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:751400-754400	Weak transcription	HMEC	breast
38	chr4:751600-754400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:751600-754400	Weak transcription	Adipose Nuclei	Adipose
40	chr4:751600-754400	Weak transcription	HepG2	liver
41	chr4:751600-754400	Weak transcription	Osteobl	bone
42	chr4:751600-754600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:751600-755600	Weak transcription	Brain Angular Gyrus	brain
44	chr4:751600-758200	Weak transcription	HSMM	muscle
45	chr4:752400-754400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:753600-758200	Strong transcription	Fetal Thymus	thymus
47	chr4:753600-759400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:753600-759400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:753600-769000	ZNF genes & repeats	Fetal Stomach	stomach
50	chr4:753600-773800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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