Variant report

Variant	esv3472027
Chromosome Location	chr6:4050181-4050632
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	POLR2A	chr6:4048635-4050195	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:4050182..4052432-chr6:4060847..4064150,3	K562	blood:
2	chr6:4049071..4052432-chr6:4060927..4063181,3	K562	blood:
3	chr6:4019656..4024130-chr6:4049502..4053557,5	K562	blood:

Variant related genes	Relation type
PRPF4B	TF binding region
ENSG00000230648	chromatin interactions
ENSG00000112739	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112838871	chr6:4050181-4050182	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs565767052	chr6:4050242-4050243	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs549299098	chr6:4050247-4050248	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs200167108	chr6:4050258-4050259	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200930343	chr6:4050259-4050260	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs202180208	chr6:4050260-4050261	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs565833041	chr6:4050278-4050279	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs534620335	chr6:4050549-4050550	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs551055248	chr6:4050555-4050556	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs111825044	chr6:4050556-4050557	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs571029420	chr6:4050557-4050558	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs372121349	chr6:4050558-4050559	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375567591	chr6:4050559-4050560	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs369619701	chr6:4050560-4050561	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs149349067	chr6:4050606-4050607	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4023000-4063600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:4023200-4064000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:4023400-4071600	Weak transcription	Stomach Mucosa	stomach
4	chr6:4023800-4067000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:4024600-4059200	Strong transcription	Fetal Thymus	thymus
6	chr6:4027200-4058200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:4030600-4065800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:4030800-4059000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:4030800-4066600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:4031000-4059200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:4031000-4066400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:4031200-4066600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr6:4033400-4055200	Strong transcription	K562	blood
14	chr6:4033800-4054400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:4034000-4066800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:4035600-4063600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:4035600-4064200	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr6:4035800-4051200	Strong transcription	Primary B cells from cord blood	blood
19	chr6:4035800-4052000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr6:4035800-4054400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:4035800-4057400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:4035800-4058400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:4035800-4058600	Strong transcription	Primary T cells from cord blood	blood
24	chr6:4035800-4064600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr6:4035800-4065000	Strong transcription	Dnd41	blood
26	chr6:4035800-4066000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr6:4035800-4066000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr6:4035800-4066200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:4036000-4058200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:4036000-4066600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:4036000-4066600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr6:4036400-4055200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:4036600-4055200	Strong transcription	NHEK	skin
34	chr6:4037200-4051000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:4037200-4059400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr6:4037200-4066200	Strong transcription	Liver	Liver
37	chr6:4037400-4054200	Strong transcription	NH-A	brain
38	chr6:4037400-4055600	Strong transcription	Hela-S3	cervix
39	chr6:4037400-4058400	Strong transcription	HepG2	liver
40	chr6:4037400-4059400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:4037400-4065800	Strong transcription	Placenta	Placenta
42	chr6:4037600-4050400	Strong transcription	NHDF-Ad	bronchial
43	chr6:4037600-4053800	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr6:4037600-4055400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:4037600-4066200	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr6:4037600-4066400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr6:4037800-4058600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr6:4037800-4058600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr6:4037800-4058800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr6:4037800-4059400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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