Variant report

Variant	esv2034818
Chromosome Location	chr6:15279174-15279587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15242226..15244729-chr6:15276839..15280020,3	K562	blood:
2	chr6:15272773..15275476-chr6:15276745..15279472,5	K562	blood:
3	chr6:15277792..15279699-chr6:15286408..15288294,2	K562	blood:
4	chr6:15278983..15281973-chr6:15299059..15301860,2	K562	blood:
5	chr6:15270888..15272572-chr6:15278254..15280290,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373686296	chr6:15279196-15279197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373185170	chr6:15279215-15279216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143671393	chr6:15279252-15279253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148162518	chr6:15279281-15279282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs62397314	chr6:15279321-15279322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35041079	chr6:15279322-15279323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35162677	chr6:15279323-15279324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76270983	chr6:15279324-15279325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372375728	chr6:15279327-15279328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71862468	chr6:15279329-15279330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114207691	chr6:15279339-15279340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536727541	chr6:15279346-15279347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11751391	chr6:15279379-15279380	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs558784602	chr6:15279384-15279385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372055714	chr6:15279399-15279400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572547847	chr6:15279435-15279436	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs78698711	chr6:15279445-15279446	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs1322753	chr6:15279490-15279491	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187423515	chr6:15279547-15279548	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs544145321	chr6:15279548-15279549	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs563832742	chr6:15279549-15279550	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs113274451	chr6:15279558-15279559	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15251200-15279400	Weak transcription	A549	lung
2	chr6:15261000-15283800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:15266200-15279200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:15267200-15279600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:15268000-15279800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:15269200-15290000	Weak transcription	NHLF	lung
7	chr6:15269800-15280000	Weak transcription	NHDF-Ad	bronchial
8	chr6:15270000-15280800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:15270000-15281000	Weak transcription	Spleen	Spleen
10	chr6:15270000-15285400	Weak transcription	Thymus	Thymus
11	chr6:15270200-15279600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:15270200-15279800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:15270200-15281600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:15270200-15288800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:15271000-15279200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:15274800-15279800	Enhancers	Psoas Muscle	Psoas
17	chr6:15274800-15280000	Enhancers	Liver	Liver
18	chr6:15275000-15279400	Enhancers	HepG2	liver
19	chr6:15275000-15280200	Weak transcription	Fetal Stomach	stomach
20	chr6:15275000-15282600	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:15275400-15279600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:15275400-15279600	Weak transcription	Stomach Mucosa	stomach
23	chr6:15275400-15281000	Weak transcription	Right Atrium	heart
24	chr6:15275400-15286000	Weak transcription	HSMM	muscle
25	chr6:15275400-15287800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:15275600-15279200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr6:15275600-15279800	Weak transcription	NHEK	skin
28	chr6:15275600-15281000	Weak transcription	Brain Angular Gyrus	brain
29	chr6:15275600-15285000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:15275800-15280800	Weak transcription	Fetal Thymus	thymus
31	chr6:15276200-15279800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:15276200-15281600	Weak transcription	Fetal Heart	heart
33	chr6:15276200-15282600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr6:15276400-15279600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:15276600-15279400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:15276600-15279400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:15276600-15279600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:15276600-15279600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:15276600-15279600	Weak transcription	Fetal Brain Female	brain
40	chr6:15276600-15279800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:15276600-15281000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:15276600-15282000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr6:15276800-15279200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr6:15276800-15279600	Weak transcription	Fetal Lung	lung
45	chr6:15276800-15279800	Weak transcription	Primary T cells from cord blood	blood
46	chr6:15276800-15279800	Weak transcription	Fetal Kidney	kidney
47	chr6:15276800-15281200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr6:15276800-15281200	Weak transcription	K562	blood
49	chr6:15276800-15287800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:15276800-15293200	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links