Variant report

Variant	esv2081928
Chromosome Location	chr6:29648731-29648732
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	chr6:29648641-29649018	GM12891	blood:	n/a	n/a
2	POLR2A	chr6:29647749-29649223	GM12891	blood:	n/a	n/a
3	POLR2A	chr6:29648195-29649120	GM18951	blood:	n/a	n/a

Variant related genes	Relation type
ZFP57	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 107 )

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	rs556492184	chr6:29648731-29648732	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29625000-29663600	Weak transcription	Right Atrium	heart
2	chr6:29643000-29648800	Enhancers	HMEC	breast
3	chr6:29646000-29648800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:29646000-29651400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:29646200-29651400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:29646200-29651400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:29646800-29651400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:29647000-29649600	Weak transcription	Spleen	Spleen
9	chr6:29647000-29651400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:29647000-29651400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:29647400-29651600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:29647600-29649200	Active TSS	Fetal Heart	heart
13	chr6:29647800-29648800	Flanking Bivalent TSS/Enh	Placenta	Placenta
14	chr6:29647800-29649000	Bivalent/Poised TSS	Colonic Mucosa	Colon
15	chr6:29648000-29648800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:29648000-29648800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:29648000-29649200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
18	chr6:29648000-29649200	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
19	chr6:29648000-29651400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:29648200-29648800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
21	chr6:29648200-29649000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr6:29648200-29649000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
23	chr6:29648200-29649000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:29648200-29649000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:29648200-29649200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
26	chr6:29648200-29651400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:29648400-29648800	Active TSS	Primary B cells from peripheral blood	blood
28	chr6:29648400-29648800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:29648400-29648800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
30	chr6:29648400-29649000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr6:29648400-29649000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr6:29648400-29649200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:29648400-29649200	Active TSS	NHEK	skin
34	chr6:29648600-29648800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
35	chr6:29648600-29648800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:29648600-29648800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:29648600-29648800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:29648600-29649000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
39	chr6:29648600-29649000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:29648600-29649000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:29648600-29649000	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr6:29648600-29649200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:29648600-29649200	Active TSS	Adipose Nuclei	Adipose

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