Variant report

Variant	esv3332864
Chromosome Location	chr6:5315467-5316033
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	chr6:5314865..5316963-chr6:5319263..5320833,2	K562	blood:
2	chr6:5308101..5310755-chr6:5313510..5315565,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371973302	chr6:5315477-5315478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186312155	chr6:5315479-5315480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192070645	chr6:5315519-5315520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527709697	chr6:5315575-5315576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139301972	chr6:5315576-5315577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547724668	chr6:5315620-5315621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183478692	chr6:5315677-5315678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs80228560	chr6:5315681-5315682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543550196	chr6:5315682-5315683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565024698	chr6:5315691-5315692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186840643	chr6:5315695-5315696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532366116	chr6:5315703-5315704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113374253	chr6:5315812-5315813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549017295	chr6:5315844-5315845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547336903	chr6:5315937-5315938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565996602	chr6:5315942-5315943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369017393	chr6:5315949-5315950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368796312	chr6:5315950-5315951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71678515	chr6:5315951-5315952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148811522	chr6:5315954-5315955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368308813	chr6:5315959-5315960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs70974188	chr6:5315970-5315971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs68096366	chr6:5315971-5315972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs67341103	chr6:5315974-5315975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9504378	chr6:5315978-5315979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548606966	chr6:5315982-5315983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12210891	chr6:5315986-5315987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13208318	chr6:5315990-5315991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs70974189	chr6:5315991-5315992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371535441	chr6:5315995-5315996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569726145	chr6:5315999-5316000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537102332	chr6:5316001-5316002	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5288000-5316200	Weak transcription	Fetal Stomach	stomach
2	chr6:5288400-5324000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:5288400-5331000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:5292800-5334400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:5295400-5325000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:5296200-5316000	Weak transcription	Lung	lung
7	chr6:5301800-5322200	Weak transcription	Ovary	ovary
8	chr6:5302600-5316000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:5302800-5319200	Weak transcription	Aorta	Aorta
10	chr6:5303200-5316000	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:5303200-5368800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:5303600-5316000	Weak transcription	Brain Anterior Caudate	brain
13	chr6:5303600-5317400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:5303600-5319000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr6:5303600-5332400	Weak transcription	Gastric	stomach
16	chr6:5303800-5316000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr6:5303800-5316200	Weak transcription	Left Ventricle	heart
18	chr6:5304000-5320400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:5304000-5325400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:5304000-5326000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr6:5304000-5337600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:5304200-5316000	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:5304200-5322800	Weak transcription	Pancreas	Pancrea
24	chr6:5306800-5316000	Weak transcription	Fetal Lung	lung
25	chr6:5306800-5321400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:5307000-5320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:5307000-5323800	Weak transcription	HepG2	liver
28	chr6:5307800-5318800	Weak transcription	Fetal Intestine Large	intestine
29	chr6:5308800-5318000	Weak transcription	Primary B cells from cord blood	blood
30	chr6:5308800-5325000	Weak transcription	Primary T cells from cord blood	blood
31	chr6:5308800-5325000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:5309000-5317200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:5309200-5333400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:5309200-5334000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:5312800-5317400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:5313000-5316400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr6:5313800-5322800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:5314400-5315600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:5314400-5316000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:5314400-5316000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:5314600-5316000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr6:5314800-5316000	Weak transcription	Psoas Muscle	Psoas
43	chr6:5314800-5323800	Weak transcription	GM12878-XiMat	blood
44	chr6:5315000-5326400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr6:5315400-5316000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr6:5315400-5316400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:5315400-5316400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:5315400-5316800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:5315400-5316800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr6:5315600-5316000	Enhancers	Skeletal Muscle Male	skeletal muscle

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