Variant report

Variant	nsv522675
Chromosome Location	chr6:5726231-5732820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5721926..5724566-chr6:5725553..5727803,3	K562	blood:
2	chr6:5725977..5728303-chr6:5734560..5736666,2	K562	blood:
3	chr6:5582656..5583214-chr6:5729828..5730668,2	MCF-7	breast:
4	chr6:5728615..5730651-chr6:5733812..5736402,2	K562	blood:

Extended variants
information (count: 300 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:300 , 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	rs17292578	chr6:5726231-5726232	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75945226	chr6:5726270-5726271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9392712	chr6:5726304-5726305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372641803	chr6:5726338-5726339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576355994	chr6:5726347-5726348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188417840	chr6:5726364-5726365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1009606	chr6:5726369-5726370	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs7738292	chr6:5726384-5726385	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551309070	chr6:5726387-5726388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192261860	chr6:5726412-5726413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59078137	chr6:5726413-5726414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78645751	chr6:5726414-5726415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548943169	chr6:5726463-5726464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80037266	chr6:5726472-5726473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538191259	chr6:5726477-5726478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184600584	chr6:5726478-5726479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188673554	chr6:5726502-5726503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7762447	chr6:5726532-5726533	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs36043210	chr6:5726536-5726537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554108866	chr6:5726549-5726550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1009605	chr6:5726573-5726574	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs79046375	chr6:5726605-5726606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192576261	chr6:5726626-5726627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536495277	chr6:5726631-5726632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184379583	chr6:5726676-5726677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558825157	chr6:5726722-5726723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144272689	chr6:5726723-5726724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs56274944	chr6:5726731-5726732	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531352010	chr6:5726758-5726759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547836810	chr6:5726777-5726778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9405867	chr6:5726808-5726809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs542707417	chr6:5726828-5726829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529343742	chr6:5726873-5726874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533648910	chr6:5726888-5726889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549955742	chr6:5726920-5726921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571589157	chr6:5726939-5726940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532402233	chr6:5726958-5726959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547500875	chr6:5726967-5726968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148748253	chr6:5726984-5726985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142252207	chr6:5727020-5727021	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554652029	chr6:5727069-5727070	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147877705	chr6:5727095-5727096	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142271308	chr6:5727118-5727119	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558688115	chr6:5727129-5727130	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78460616	chr6:5727131-5727132	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34441461	chr6:5727189-5727190	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541692119	chr6:5727219-5727220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144552337	chr6:5727224-5727225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189086771	chr6:5727229-5727230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9405868	chr6:5727250-5727251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:159 , 50 per page) page: 1 2 3 4

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	chr6:5724200-5728000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:5724200-5729200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:5724600-5727200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:5724600-5727800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:5724600-5728000	Weak transcription	Fetal Brain Male	brain
12	chr6:5724600-5728200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:5724600-5728800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:5724600-5729000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:5724600-5729200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:5724600-5729200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:5724600-5729200	Weak transcription	NH-A	brain
18	chr6:5724800-5727000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:5724800-5729200	Weak transcription	Osteobl	bone
20	chr6:5724800-5729400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:5725000-5727000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr6:5725000-5727200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:5725000-5727200	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:5725000-5727200	Weak transcription	Spleen	Spleen
25	chr6:5725000-5727800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:5725000-5728400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:5725000-5729000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr6:5725000-5729800	Enhancers	Primary B cells from cord blood	blood
29	chr6:5725000-5730000	Enhancers	Primary B cells from peripheral blood	blood
30	chr6:5725000-5731600	Weak transcription	Colonic Mucosa	Colon
31	chr6:5725000-5737000	Weak transcription	Primary T cells from cord blood	blood
32	chr6:5725200-5749200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:5725600-5727000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:5725600-5727200	Weak transcription	GM12878-XiMat	blood
35	chr6:5726000-5749400	Weak transcription	Fetal Intestine Small	intestine
36	chr6:5726800-5728200	Enhancers	HSMMtube	muscle
37	chr6:5727000-5727200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:5727000-5727400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:5727000-5727600	Enhancers	Fetal Muscle Trunk	muscle
40	chr6:5727000-5727800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:5727000-5728200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr6:5727000-5728400	Enhancers	Fetal Thymus	thymus
43	chr6:5727000-5729200	Enhancers	HSMM	muscle
44	chr6:5727000-5762400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:5727200-5727600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:5727200-5727600	Enhancers	Spleen	Spleen
47	chr6:5727200-5727600	Enhancers	GM12878-XiMat	blood
48	chr6:5727200-5728200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:5727200-5728400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:5727200-5729800	Enhancers	Fetal Muscle Leg	muscle

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