Variant report

Variant	esv2763528
Chromosome Location	chr6:5539805-5545654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 237 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41456045	chr6:5539805-5539806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546390721	chr6:5539814-5539815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574781859	chr6:5539901-5539902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535806754	chr6:5539946-5539947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537340455	chr6:5539947-5539948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80350454	chr6:5539987-5539988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547291826	chr6:5540054-5540055	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565713774	chr6:5540055-5540056	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1806560	chr6:5540071-5540072	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs548274792	chr6:5540078-5540079	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1806561	chr6:5540089-5540090	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs141088304	chr6:5540130-5540131	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187753529	chr6:5540173-5540174	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570299119	chr6:5540174-5540175	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534630263	chr6:5540190-5540191	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534984762	chr6:5540191-5540192	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552844898	chr6:5540194-5540195	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574817816	chr6:5540265-5540266	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535442954	chr6:5540316-5540317	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557448508	chr6:5540318-5540319	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537649529	chr6:5540322-5540323	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533985887	chr6:5540338-5540339	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557552759	chr6:5540339-5540340	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575613070	chr6:5540347-5540348	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574405643	chr6:5540360-5540361	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192668971	chr6:5540383-5540384	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543369043	chr6:5540401-5540402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75794598	chr6:5540459-5540460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184284953	chr6:5540464-5540465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573468860	chr6:5540493-5540494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370651377	chr6:5540505-5540506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540965393	chr6:5540551-5540552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562202149	chr6:5540580-5540581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs137937106	chr6:5540600-5540601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547851020	chr6:5540622-5540623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370672998	chr6:5540623-5540624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530556000	chr6:5540637-5540638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376006988	chr6:5540640-5540641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375529498	chr6:5540643-5540644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572800816	chr6:5540651-5540652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73358208	chr6:5540661-5540662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200987067	chr6:5540730-5540731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535045173	chr6:5540768-5540769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534500505	chr6:5540803-5540804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544944873	chr6:5540866-5540867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76787318	chr6:5540882-5540883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189048120	chr6:5540906-5540907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192613812	chr6:5540908-5540909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201649462	chr6:5540944-5540945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73719634	chr6:5540967-5540968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5501000-5550600	Weak transcription	Pancreas	Pancrea
2	chr6:5508000-5547400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:5511200-5546400	Weak transcription	Fetal Intestine Small	intestine
4	chr6:5511400-5540200	Weak transcription	Esophagus	oesophagus
5	chr6:5511400-5568200	Weak transcription	Aorta	Aorta
6	chr6:5518600-5550000	Weak transcription	Right Ventricle	heart
7	chr6:5522600-5544600	Weak transcription	Ovary	ovary
8	chr6:5522600-5548000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:5522800-5550400	Weak transcription	GM12878-XiMat	blood
10	chr6:5523000-5549000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:5525200-5547600	Weak transcription	Primary B cells from cord blood	blood
12	chr6:5529000-5546800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:5530400-5540000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:5530400-5541200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:5530400-5542200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:5530600-5542400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:5531000-5542200	Weak transcription	Gastric	stomach
18	chr6:5531600-5546800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:5532400-5551600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:5532600-5542000	Weak transcription	Primary T cells from cord blood	blood
21	chr6:5532800-5550400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:5533000-5550400	Weak transcription	Psoas Muscle	Psoas
23	chr6:5533800-5544400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:5535000-5541000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:5536000-5550000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:5536600-5541200	Enhancers	NHDF-Ad	bronchial
27	chr6:5536800-5553000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:5537400-5540000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:5537600-5542200	Weak transcription	Placenta	Placenta
30	chr6:5538000-5550600	Weak transcription	Lung	lung
31	chr6:5538000-5573600	Weak transcription	Left Ventricle	heart
32	chr6:5538200-5542600	Weak transcription	Spleen	Spleen
33	chr6:5538400-5540000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:5538600-5550200	Weak transcription	Fetal Stomach	stomach
35	chr6:5538800-5542200	Weak transcription	Osteobl	bone
36	chr6:5538800-5542400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:5538800-5542600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:5538800-5550600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:5539000-5542200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:5539000-5547800	Weak transcription	Small Intestine	intestine
41	chr6:5539000-5550000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr6:5539200-5540200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:5539200-5542200	Weak transcription	Stomach Mucosa	stomach
44	chr6:5539200-5545400	Weak transcription	Fetal Brain Male	brain
45	chr6:5539400-5540200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:5539400-5542200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:5539800-5540600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:5540000-5540400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:5540000-5540400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:5540000-5540400	Enhancers	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links