Variant report

Variant	esv2763543
Chromosome Location	chr6:24951199-24951809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs647297	chr6:24951199-24951200	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs534421345	chr6:24951202-24951203	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs189386292	chr6:24951227-24951228	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs541772080	chr6:24951235-24951236	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs561510601	chr6:24951236-24951237	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs181791792	chr6:24951270-24951271	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs547367911	chr6:24951286-24951287	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs1328714	chr6:24951300-24951301	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs532919093	chr6:24951316-24951317	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs373700825	chr6:24951318-24951319	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs376072777	chr6:24951328-24951329	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs7764561	chr6:24951336-24951337	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9467358	chr6:24951358-24951359	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs186096396	chr6:24951386-24951387	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs34894409	chr6:24951407-24951408	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs565935936	chr6:24951415-24951416	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs145633278	chr6:24951416-24951417	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558126464	chr6:24951468-24951469	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs147746713	chr6:24951490-24951491	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs368596640	chr6:24951528-24951529	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs189008615	chr6:24951571-24951572	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs142498617	chr6:24951588-24951589	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574317226	chr6:24951599-24951600	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs373937783	chr6:24951623-24951624	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs541536383	chr6:24951625-24951626	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs540570165	chr6:24951628-24951629	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs571909402	chr6:24951651-24951652	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs577987899	chr6:24951667-24951668	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs199741948	chr6:24951702-24951703	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs143364804	chr6:24951704-24951705	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs200316857	chr6:24951705-24951706	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs564014574	chr6:24951729-24951730	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs181562589	chr6:24951768-24951769	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs73382361	chr6:24951795-24951796	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562072208	chr6:24951801-24951802	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs368526791	chr6:24951805-24951806	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs387628	chr6:24951809-24951810	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:101)

Disease	PMID	Source
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
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
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
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24946400-24951600	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:24947800-24953600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:24948400-24954600	Enhancers	Fetal Thymus	thymus
4	chr6:24948400-24955800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:24949200-24951200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:24949200-24951200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:24949200-24952800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr6:24949200-24952800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr6:24949200-24953400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr6:24949400-24951400	Enhancers	Primary hematopoietic stem cells	blood
11	chr6:24949400-24951800	Enhancers	Thymus	Thymus
12	chr6:24949400-24953200	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr6:24949600-24952800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:24949600-24952800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr6:24949800-24951400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:24949800-24952000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:24949800-24952400	Weak transcription	Colonic Mucosa	Colon
18	chr6:24949800-24952800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr6:24950000-24951600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr6:24950000-24951600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:24950200-24952000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr6:24950200-24952200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:24950200-24952400	Enhancers	Fetal Lung	lung
24	chr6:24950400-24952000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:24950400-24988600	Weak transcription	Dnd41	blood
26	chr6:24950600-24953200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:24950800-24951200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:24950800-24951200	Enhancers	Primary B cells from cord blood	blood
29	chr6:24950800-24951200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr6:24950800-24951600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr6:24950800-24951600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr6:24950800-24952800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr6:24950800-24952800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr6:24951000-24951800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:24951000-24951800	Enhancers	Spleen	Spleen
36	chr6:24951000-24951800	Enhancers	GM12878-XiMat	blood
37	chr6:24951000-24952800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:24951200-24951800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:24951200-24952800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:24951200-24953200	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr6:24951200-24960800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:24951400-24952600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:24951400-24952800	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr6:24951600-24951800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr6:24951600-24952000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr6:24951600-24952000	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr6:24951600-24952800	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr6:24951600-24952800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr6:24951800-24952000	Active TSS	Primary T cells fromperipheralblood	blood
50	chr6:24951800-24952400	Flanking Active TSS	Thymus	Thymus

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