Variant report

Variant	esv3323771
Chromosome Location	chr6:23619198-23621746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544833183	chr6:23619206-23619207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113454612	chr6:23619207-23619208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375584884	chr6:23619258-23619259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370245535	chr6:23619288-23619289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576704708	chr6:23619317-23619318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75897830	chr6:23619326-23619327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559902407	chr6:23619379-23619380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73383678	chr6:23619416-23619417	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374656609	chr6:23619420-23619421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62400945	chr6:23619461-23619462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574105471	chr6:23619474-23619475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9466875	chr6:23619478-23619479	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9466876	chr6:23619487-23619488	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs504894	chr6:23619488-23619489	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs77119423	chr6:23619489-23619490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9366506	chr6:23619497-23619498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530611091	chr6:23619500-23619501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549196508	chr6:23619555-23619556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187558790	chr6:23619600-23619601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150445855	chr6:23619622-23619623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535302712	chr6:23619624-23619625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191548397	chr6:23619637-23619638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182876472	chr6:23619654-23619655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138267752	chr6:23619655-23619656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35602836	chr6:23619672-23619673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147587500	chr6:23619691-23619692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376032421	chr6:23619694-23619695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552091096	chr6:23619755-23619756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571416083	chr6:23619793-23619794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141375045	chr6:23619796-23619797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555899018	chr6:23619806-23619807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188737924	chr6:23619811-23619812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9460902	chr6:23619814-23619815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372572086	chr6:23619816-23619817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs508408	chr6:23619836-23619837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536397454	chr6:23619874-23619875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577611879	chr6:23619881-23619882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568611656	chr6:23619930-23619931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201636263	chr6:23619955-23619956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545040977	chr6:23619957-23619958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563227303	chr6:23619958-23619959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143959302	chr6:23619968-23619969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576655084	chr6:23619970-23619971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370945471	chr6:23619971-23619972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9460903	chr6:23619974-23619975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201017072	chr6:23619991-23619992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575524066	chr6:23620010-23620011	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs542580260	chr6:23620020-23620021	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs561104984	chr6:23620023-23620024	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs367596386	chr6:23620114-23620115	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
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
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	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
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Tetralogy of Fallot	22912587	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23618600-23619600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:23618800-23619600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:23619000-23621000	Weak transcription	Fetal Kidney	kidney
4	chr6:23619600-23620800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:23619600-23620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:23620000-23620400	Active TSS	HSMM	muscle
7	chr6:23620000-23620600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr6:23620200-23620600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:23620600-23621000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:23620600-23622000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:23620800-23621000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:23620800-23621000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:23620800-23621200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:23620800-23621400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:23620800-23622000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:23620800-23622000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:23620800-23622200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:23621000-23621200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:23621000-23621200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:23621000-23621200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:23621000-23621200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:23621000-23621400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:23621000-23621600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:23621000-23621600	Enhancers	Brain Hippocampus Middle	brain
25	chr6:23621000-23621600	Enhancers	Fetal Kidney	kidney
26	chr6:23621000-23621600	Enhancers	Fetal Muscle Leg	muscle
27	chr6:23621000-23621800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:23621000-23621800	Enhancers	Fetal Brain Male	brain
29	chr6:23621000-23622000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:23621000-23622000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:23621000-23622200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:23621200-23621400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr6:23621200-23621600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr6:23621200-23621600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:23621200-23621600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr6:23621200-23621600	Enhancers	Brain Substantia Nigra	brain
37	chr6:23621200-23621800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:23621400-23621600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr6:23621400-23621800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:23621400-23621800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:23621400-23621800	Enhancers	Fetal Stomach	stomach
42	chr6:23621400-23622000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:23621600-23621800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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