Variant report

Variant	nsv5181
Chromosome Location	chr6:5536921-5581595
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:5554838..5557346-chr6:5557615..5560510,3	K562	blood:
2	chr6:5554838..5557346-chr6:5557615..5559842,2	K562	blood:
3	chr6:5579091..5581648-chr6:5587396..5590119,2	K562	blood:
4	chr6:5571772..5574003-chr6:5575874..5578608,2	MCF-7	breast:
5	chr6:5554838..5557346-chr6:5557615..5559842,2	K562	blood:
6	chr6:5549888..5552504-chr6:5555146..5558122,2	K562	blood:
7	chr6:5549888..5552504-chr6:5555146..5558122,2	K562	blood:
8	chr6:5571772..5574003-chr6:5575874..5578608,2	MCF-7	breast:
9	chr6:5549888..5553907-chr6:5554178..5558122,4	K562	blood:
10	chr6:5554838..5557346-chr6:5557615..5560510,3	K562	blood:
11	chr6:5549888..5553907-chr6:5554178..5558122,4	K562	blood:

No data

Extended variants
information (count: 1855 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1855 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550631731	chr6:5536921-5536922	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377024428	chr6:5536955-5536956	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73719633	chr6:5536985-5536986	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs12195596	chr6:5537005-5537006	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559243003	chr6:5537008-5537009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566734213	chr6:5537038-5537039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527692637	chr6:5537045-5537046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185759796	chr6:5537050-5537051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544161776	chr6:5537152-5537153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115444138	chr6:5537210-5537211	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs537989332	chr6:5537231-5537232	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs138558148	chr6:5537317-5537318	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs551290412	chr6:5537343-5537344	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs571787645	chr6:5537367-5537368	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs12175572	chr6:5537451-5537452	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188792650	chr6:5537477-5537478	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572376540	chr6:5537509-5537510	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542596039	chr6:5537513-5537514	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115769310	chr6:5537562-5537563	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181566161	chr6:5537616-5537617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544025842	chr6:5537635-5537636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10085267	chr6:5537656-5537657	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376696180	chr6:5537668-5537669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143569486	chr6:5537672-5537673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35938505	chr6:5537673-5537674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545179632	chr6:5537681-5537682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560471238	chr6:5537682-5537683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9766296	chr6:5537699-5537700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs70975918	chr6:5537719-5537720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112505459	chr6:5537723-5537724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112589916	chr6:5537751-5537752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549283136	chr6:5537767-5537768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184511412	chr6:5537776-5537777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111356206	chr6:5537779-5537780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147590094	chr6:5537784-5537785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531721150	chr6:5537795-5537796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9328311	chr6:5537800-5537801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571389834	chr6:5537817-5537818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9766913	chr6:5537828-5537829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571666831	chr6:5537831-5537832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550510056	chr6:5537845-5537846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553912038	chr6:5537864-5537865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10085268	chr6:5537891-5537892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114981395	chr6:5537918-5537919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35234176	chr6:5537990-5537991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181543954	chr6:5538044-5538045	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544156573	chr6:5538053-5538054	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555990693	chr6:5538068-5538069	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10080503	chr6:5538095-5538096	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545240822	chr6:5538121-5538122	Weak transcription Flanking Active TSS Enhancers	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
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr6:5514000-5537400	Weak transcription	Left Ventricle	heart
7	chr6:5518600-5550000	Weak transcription	Right Ventricle	heart
8	chr6:5522600-5544600	Weak transcription	Ovary	ovary
9	chr6:5522600-5548000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:5522800-5550400	Weak transcription	GM12878-XiMat	blood
11	chr6:5523000-5549000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:5525200-5547600	Weak transcription	Primary B cells from cord blood	blood
13	chr6:5529000-5546800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr6:5530400-5537200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:5530400-5540000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:5530400-5541200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:5530400-5542200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:5530600-5542400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:5531000-5542200	Weak transcription	Gastric	stomach
20	chr6:5531600-5546800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:5531800-5537200	Weak transcription	Placenta	Placenta
22	chr6:5532400-5551600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr6:5532600-5542000	Weak transcription	Primary T cells from cord blood	blood
24	chr6:5532800-5550400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:5533000-5550400	Weak transcription	Psoas Muscle	Psoas
26	chr6:5533800-5544400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:5534000-5537200	Weak transcription	Lung	lung
28	chr6:5535000-5541000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:5536000-5550000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:5536600-5538400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:5536600-5541200	Enhancers	NHDF-Ad	bronchial
32	chr6:5536800-5537000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:5536800-5553000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:5537000-5537200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:5537000-5539200	Enhancers	Stomach Mucosa	stomach
36	chr6:5537200-5537400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:5537200-5537600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:5537200-5537600	Enhancers	Placenta	Placenta
39	chr6:5537200-5538000	Enhancers	Lung	lung
40	chr6:5537200-5538000	Enhancers	Right Atrium	heart
41	chr6:5537200-5539000	Enhancers	Duodenum Mucosa	Duodenum
42	chr6:5537200-5539400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:5537200-5539400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:5537400-5538000	Enhancers	Left Ventricle	heart
45	chr6:5537400-5538400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:5537400-5538800	Enhancers	Osteobl	bone
47	chr6:5537400-5540000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:5537600-5538000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:5537600-5542200	Weak transcription	Placenta	Placenta
50	chr6:5538000-5538200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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