Variant report

Variant	nsv969346
Chromosome Location	chr6:5728002-5734633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5424951..5427870-chr6:5732837..5734922,2	MCF-7	breast:
2	chr6:5733558..5735312-chr6:5742997..5744692,2	K562	blood:
3	chr6:5582656..5583214-chr6:5729828..5730668,2	MCF-7	breast:
4	chr6:5725977..5728303-chr6:5734560..5736666,2	K562	blood:
5	chr6:5728615..5730651-chr6:5733812..5736402,2	K562	blood:
6	chr6:5725977..5728303-chr6:5734560..5736666,2	K562	blood:
7	chr6:5728615..5730651-chr6:5733812..5736402,2	K562	blood:

Extended variants
information (count: 285 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556060339	chr6:5728035-5728036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113353733	chr6:5728049-5728050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529909227	chr6:5728063-5728064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180759194	chr6:5728066-5728067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112166862	chr6:5728131-5728132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186145564	chr6:5728134-5728135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552245385	chr6:5728165-5728166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376244757	chr6:5728201-5728202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535226893	chr6:5728211-5728212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73364225	chr6:5728221-5728222	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568752454	chr6:5728223-5728224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1106811	chr6:5728245-5728246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554635162	chr6:5728252-5728253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538244162	chr6:5728269-5728270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73718394	chr6:5728279-5728280	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114297675	chr6:5728280-5728281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558623001	chr6:5728333-5728334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575668954	chr6:5728380-5728381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146812471	chr6:5728382-5728383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576835572	chr6:5728406-5728407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371526536	chr6:5728471-5728472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77427629	chr6:5728655-5728656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574702718	chr6:5728690-5728691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374585610	chr6:5728694-5728695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144601679	chr6:5728755-5728756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563385534	chr6:5728807-5728808	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs374474259	chr6:5728825-5728826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs200487434	chr6:5728826-5728827	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs530825140	chr6:5728829-5728830	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs75972429	chr6:5728854-5728855	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs138546598	chr6:5728940-5728941	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs115427283	chr6:5729020-5729021	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs17141194	chr6:5729030-5729031	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs142232448	chr6:5729040-5729041	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs529662142	chr6:5729057-5729058	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs74721405	chr6:5729089-5729090	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs146402711	chr6:5729101-5729102	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs537065501	chr6:5729121-5729122	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs148173420	chr6:5729153-5729154	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs141927862	chr6:5729159-5729160	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534397052	chr6:5729187-5729188	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs116809109	chr6:5729203-5729204	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs574285739	chr6:5729236-5729237	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs200368275	chr6:5729275-5729276	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs556843707	chr6:5729293-5729294	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs575169959	chr6:5729307-5729308	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs150669887	chr6:5729329-5729330	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs538723356	chr6:5729389-5729390	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs564308338	chr6:5729412-5729413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528614876	chr6:5729429-5729430	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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5717400-5729000	Weak transcription	Fetal Stomach	stomach
2	chr6:5717600-5729000	Weak transcription	Fetal Lung	lung
3	chr6:5717600-5729600	Weak transcription	Brain Substantia Nigra	brain
4	chr6:5718000-5729200	Weak transcription	NHEK	skin
5	chr6:5723000-5744200	Weak transcription	Right Ventricle	heart
6	chr6:5723800-5729000	Weak transcription	Lung	lung
7	chr6:5724200-5729200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:5724600-5728200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:5724600-5728800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:5724600-5729000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:5724600-5729200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:5724600-5729200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:5724600-5729200	Weak transcription	NH-A	brain
14	chr6:5724800-5729200	Weak transcription	Osteobl	bone
15	chr6:5724800-5729400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:5725000-5728400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:5725000-5729000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:5725000-5729800	Enhancers	Primary B cells from cord blood	blood
19	chr6:5725000-5730000	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:5725000-5731600	Weak transcription	Colonic Mucosa	Colon
21	chr6:5725000-5737000	Weak transcription	Primary T cells from cord blood	blood
22	chr6:5725200-5749200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:5726000-5749400	Weak transcription	Fetal Intestine Small	intestine
24	chr6:5726800-5728200	Enhancers	HSMMtube	muscle
25	chr6:5727000-5728200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr6:5727000-5728400	Enhancers	Fetal Thymus	thymus
27	chr6:5727000-5729200	Enhancers	HSMM	muscle
28	chr6:5727000-5762400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr6:5727200-5728200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:5727200-5728400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:5727200-5729800	Enhancers	Fetal Muscle Leg	muscle
32	chr6:5727200-5731400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:5727600-5728400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr6:5727600-5728600	Weak transcription	GM12878-XiMat	blood
35	chr6:5727600-5729000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:5727600-5729000	Weak transcription	Spleen	Spleen
37	chr6:5727600-5729200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr6:5727800-5728200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:5727800-5728400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr6:5727800-5729600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:5728000-5729200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr6:5728000-5729400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:5728000-5729800	Enhancers	Fetal Brain Male	brain
44	chr6:5728000-5730200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:5728000-5730200	Enhancers	Fetal Brain Female	brain
46	chr6:5728000-5730800	Enhancers	Brain Germinal Matrix	brain
47	chr6:5728200-5729200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr6:5728200-5729400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:5728200-5730400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:5728400-5728800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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