Variant report

Variant	esv3472042
Chromosome Location	chr6:5205306-5205910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5203877..5206736-chr6:5207600..5210343,2	MCF-7	breast:
2	chr6:5189281..5191777-chr6:5204127..5205780,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544430877	chr6:5205310-5205311	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536314488	chr6:5205357-5205358	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554680281	chr6:5205410-5205411	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190624317	chr6:5205451-5205452	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537232364	chr6:5205511-5205512	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558832812	chr6:5205529-5205530	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577018790	chr6:5205542-5205543	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182845710	chr6:5205599-5205600	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531650790	chr6:5205633-5205634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374670874	chr6:5205659-5205660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548546639	chr6:5205662-5205663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187929092	chr6:5205663-5205664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574762974	chr6:5205670-5205671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112817034	chr6:5205673-5205674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541849125	chr6:5205697-5205698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563428761	chr6:5205721-5205722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114817059	chr6:5205748-5205749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200335585	chr6:5205772-5205773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77039904	chr6:5205773-5205774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565844833	chr6:5205788-5205789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530136333	chr6:5205841-5205842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35411134	chr6:5205855-5205856	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528746599	chr6:5205877-5205878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546998195	chr6:5205900-5205901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	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
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5176200-5239600	Weak transcription	Thymus	Thymus
2	chr6:5179200-5207600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:5180200-5212200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:5180600-5205800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:5180600-5208200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:5182000-5213600	Weak transcription	Gastric	stomach
7	chr6:5189000-5213200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr6:5189400-5205400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:5191000-5206600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:5191800-5206000	Weak transcription	NHLF	lung
11	chr6:5191800-5206400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:5192000-5205800	Weak transcription	A549	lung
13	chr6:5192800-5213000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:5193200-5212400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:5194000-5220800	Weak transcription	GM12878-XiMat	blood
16	chr6:5195800-5207800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:5197000-5206000	Weak transcription	K562	blood
18	chr6:5199800-5206200	Enhancers	Fetal Heart	heart
19	chr6:5199800-5207800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:5200200-5206200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:5201200-5208800	Enhancers	Fetal Muscle Leg	muscle
22	chr6:5201400-5205600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:5201600-5213400	Weak transcription	Fetal Brain Male	brain
24	chr6:5201800-5213400	Weak transcription	Fetal Brain Female	brain
25	chr6:5202000-5212800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:5202200-5206200	Enhancers	Brain Substantia Nigra	brain
27	chr6:5202400-5206200	Enhancers	NHEK	skin
28	chr6:5202400-5206400	Enhancers	HMEC	breast
29	chr6:5202400-5206600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:5202600-5205600	Strong transcription	Primary T cells from cord blood	blood
31	chr6:5202600-5206600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:5202600-5206800	Enhancers	Placenta	Placenta
33	chr6:5202800-5208400	Enhancers	Brain Anterior Caudate	brain
34	chr6:5202800-5213600	Weak transcription	Dnd41	blood
35	chr6:5203200-5210000	Enhancers	Fetal Stomach	stomach
36	chr6:5203400-5206600	Enhancers	Fetal Lung	lung
37	chr6:5203400-5208600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:5203600-5207400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:5203600-5207600	Enhancers	Brain Hippocampus Middle	brain
40	chr6:5203600-5210400	Enhancers	Colon Smooth Muscle	Colon
41	chr6:5203800-5206600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr6:5203800-5207200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr6:5203800-5207400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr6:5203800-5208400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr6:5203800-5209000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:5203800-5213400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:5204000-5205400	Weak transcription	Brain Germinal Matrix	brain
48	chr6:5204000-5206000	Enhancers	HepG2	liver
49	chr6:5204000-5206600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:5204000-5206800	Enhancers	Ovary	ovary

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