Variant report

Variant	nsv820266
Chromosome Location	chr6:24445877-24447244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24438222..24440221-chr6:24443252..24446225,2	K562	blood:
2	chr6:24431522..24434175-chr6:24447084..24450027,2	MCF-7	breast:
3	chr6:24447065..24450391-chr6:24494132..24495678,3	K562	blood:
4	chr6:24444100..24446602-chr6:24457686..24459822,2	K562	blood:
5	chr6:24446917..24448479-chr6:24451269..24452965,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112294	chromatin interactions
ENSG00000112293	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146157574	chr6:24445889-24445890	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371403371	chr6:24445891-24445892	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375579025	chr6:24445946-24445947	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536019962	chr6:24445950-24445951	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370530696	chr6:24445987-24445988	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549427356	chr6:24446008-24446009	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201973866	chr6:24446010-24446011	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566324510	chr6:24446036-24446037	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142962906	chr6:24446037-24446038	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112267960	chr6:24446038-24446039	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147462718	chr6:24446051-24446052	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367558013	chr6:24446075-24446076	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553399381	chr6:24446076-24446077	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140108626	chr6:24446140-24446141	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34519215	chr6:24446146-24446147	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143847913	chr6:24446151-24446152	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371982907	chr6:24446152-24446153	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs793713	chr6:24446183-24446184	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569701229	chr6:24446184-24446185	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188050116	chr6:24446188-24446189	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116372098	chr6:24446223-24446224	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555382519	chr6:24446238-24446239	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189531274	chr6:24446274-24446275	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370090418	chr6:24446279-24446280	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78672897	chr6:24446308-24446309	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182582160	chr6:24446336-24446337	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533343905	chr6:24446344-24446345	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186903514	chr6:24446349-24446350	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563737941	chr6:24446366-24446367	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560935388	chr6:24446385-24446386	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112290771	chr6:24446394-24446395	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549511443	chr6:24446419-24446420	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191593493	chr6:24446463-24446464	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146813121	chr6:24446465-24446466	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115534246	chr6:24446487-24446488	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370662050	chr6:24446499-24446500	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115111169	chr6:24446520-24446521	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375143071	chr6:24446527-24446528	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553156327	chr6:24446540-24446541	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539015605	chr6:24446542-24446543	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555852684	chr6:24446569-24446570	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35711560	chr6:24446577-24446578	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs398000967	chr6:24446588-24446589	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377364909	chr6:24446610-24446611	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185430453	chr6:24446658-24446659	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113206176	chr6:24446659-24446660	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35392980	chr6:24446700-24446701	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528161836	chr6:24446772-24446773	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188348372	chr6:24446844-24446845	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs793712	chr6:24446882-24446883	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:103)

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
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
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
Pancreatic cancer	17952125	CNVD
XY gonadal dysgenesis	20685758	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24417400-24451800	Strong transcription	Liver	Liver
2	chr6:24421200-24448800	Weak transcription	Gastric	stomach
3	chr6:24421200-24459600	Weak transcription	Spleen	Spleen
4	chr6:24424000-24456600	Weak transcription	Ovary	ovary
5	chr6:24426200-24446000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:24426400-24446000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:24427600-24456800	Weak transcription	Lung	lung
8	chr6:24427800-24467000	Weak transcription	Brain Germinal Matrix	brain
9	chr6:24428200-24449400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:24429000-24447800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:24429000-24494200	Weak transcription	Primary B cells from cord blood	blood
12	chr6:24429200-24455600	Weak transcription	Brain Angular Gyrus	brain
13	chr6:24429400-24483800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:24429600-24455000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:24430800-24448400	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:24432600-24463800	Weak transcription	Fetal Intestine Small	intestine
17	chr6:24433600-24451600	Weak transcription	Adipose Nuclei	Adipose
18	chr6:24437600-24455400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:24437800-24450600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:24437800-24459600	Weak transcription	Left Ventricle	heart
21	chr6:24438000-24464000	Weak transcription	Pancreas	Pancrea
22	chr6:24438200-24447800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:24438200-24455600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:24438400-24448600	Weak transcription	Right Ventricle	heart
25	chr6:24438400-24483200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:24438600-24459800	Weak transcription	Fetal Stomach	stomach
27	chr6:24438800-24469200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:24440400-24452000	Weak transcription	Primary T cells from cord blood	blood
29	chr6:24441400-24452000	Weak transcription	Thymus	Thymus
30	chr6:24442000-24448000	Weak transcription	K562	blood
31	chr6:24442000-24452000	Weak transcription	Fetal Thymus	thymus
32	chr6:24444000-24449200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:24444000-24458200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:24444200-24446000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr6:24445000-24447400	Strong transcription	Brain Anterior Caudate	brain
36	chr6:24445400-24447200	Strong transcription	Aorta	Aorta
37	chr6:24445400-24448400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr6:24445600-24446000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr6:24445600-24446400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr6:24445600-24446400	Strong transcription	Fetal Brain Female	brain
41	chr6:24445600-24448800	Strong transcription	Fetal Muscle Leg	muscle
42	chr6:24445800-24446000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr6:24445800-24446400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr6:24445800-24446400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:24445800-24446400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr6:24445800-24446600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:24446000-24446200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:24446000-24446400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr6:24446000-24446400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:24446000-24446400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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