Variant report

Variant	esv1840790
Chromosome Location	chr6:29658864-29669830
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:29615478..29616411-chr6:29663958..29664983,4	MCF-7	breast:
2	chr6:29615212..29617400-chr6:29662195..29664604,2	MCF-7	breast:
3	chr6:29620955..29621482-chr6:29664090..29665046,2	MCF-7	breast:
4	chr6:29664440..29666391-chr6:29667385..29669684,2	K562	blood:
5	chr6:29664440..29666391-chr6:29667385..29669684,2	K562	blood:
6	chr6:29343821..29344378-chr6:29664074..29664947,2	MCF-7	breast:

Extended variants
information (count: 525 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:525 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3129039	chr6:29658864-29658865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563423950	chr6:29658899-29658900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114543002	chr6:29658907-29658908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs207466841	chr6:29658935-29658936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542775384	chr6:29659020-29659021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182974201	chr6:29659027-29659028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2535274	chr6:29659043-29659044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs368524018	chr6:29659061-29659062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372058910	chr6:29659090-29659091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2747467	chr6:29659124-29659125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs3117317	chr6:29659133-29659134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530511393	chr6:29659153-29659154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545501331	chr6:29659226-29659227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560596774	chr6:29659247-29659248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372069660	chr6:29659251-29659252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3131894	chr6:29659255-29659256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs386698397	chr6:29659268-29659269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3129038	chr6:29659270-29659271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373490520	chr6:29659275-29659276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369729165	chr6:29659292-29659293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559600137	chr6:29659294-29659295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529567801	chr6:29659315-29659316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566225950	chr6:29659333-29659334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2982841	chr6:29659355-29659356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs2907898	chr6:29659366-29659367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs187521896	chr6:29659367-29659368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2907897	chr6:29659386-29659387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs138358844	chr6:29659400-29659401	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs571500272	chr6:29659473-29659474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556907295	chr6:29659576-29659577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114882073	chr6:29659591-29659592	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs543067215	chr6:29659607-29659608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567885204	chr6:29659649-29659650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553421499	chr6:29659673-29659674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573168732	chr6:29659838-29659839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535828625	chr6:29659848-29659849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564964179	chr6:29659889-29659890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111404632	chr6:29659898-29659899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191065060	chr6:29659903-29659904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183196743	chr6:29659911-29659912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545265370	chr6:29659990-29659991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3129035	chr6:29659999-29660000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs427236	chr6:29660077-29660078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs150244955	chr6:29660094-29660095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187395094	chr6:29660106-29660107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60747319	chr6:29660171-29660172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375413416	chr6:29660175-29660176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9280655	chr6:29660178-29660179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58986665	chr6:29660179-29660180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200028608	chr6:29660180-29660181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	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
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29625000-29663600	Weak transcription	Right Atrium	heart
2	chr6:29648800-29662600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:29660600-29660800	Flanking Bivalent TSS/Enh	Placenta	Placenta
4	chr6:29662400-29662600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:29662400-29663000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:29662400-29663200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:29662600-29663000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr6:29662600-29663600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:29662600-29664200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:29662800-29664200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr6:29663600-29663800	Genic enhancers	Right Atrium	heart
12	chr6:29663600-29664000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:29663600-29664000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:29663600-29664200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr6:29663600-29664200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:29663600-29664200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:29663600-29664400	Enhancers	Left Ventricle	heart
18	chr6:29663600-29665000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:29663800-29664000	Enhancers	Right Atrium	heart
20	chr6:29663800-29664400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:29663800-29664400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:29663800-29664400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:29663800-29664800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:29664000-29690600	Weak transcription	Right Atrium	heart
25	chr6:29664200-29664800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:29664200-29664800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:29664800-29665000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:29664800-29670200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:29665000-29670200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links