Variant report

Variant	esv3331318
Chromosome Location	chr6:24426499-24426891
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24426316..24427953-chr6:24428203..24431025,2	MCF-7	breast:
2	chr6:24426425..24428903-chr6:24718888..24721058,2	MCF-7	breast:
3	chr6:24424515..24426613-chr6:24427739..24429764,2	K562	blood:
4	chr6:24424501..24427723-chr6:24493880..24496586,3	MCF-7	breast:
5	chr6:24423442..24426628-chr6:24427479..24429179,4	MCF-7	breast:
6	chr6:24421603..24423406-chr6:24425758..24427352,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112294	chromatin interactions
ENSG00000112293	chromatin interactions
ENSG00000112308	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2298062	chr6:24426558-24426559	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12210975	chr6:24426574-24426575	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569836037	chr6:24426581-24426582	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs551791814	chr6:24426646-24426647	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs571719333	chr6:24426671-24426672	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs147852431	chr6:24426704-24426705	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs3216033	chr6:24426705-24426706	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs35559840	chr6:24426706-24426707	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs10635598	chr6:24426708-24426709	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs530932245	chr6:24426752-24426753	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs74924371	chr6:24426790-24426791	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs386698090	chr6:24426820-24426821	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs2298060	chr6:24426822-24426823	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs553322091	chr6:24426865-24426866	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs72833071	chr6:24426889-24426890	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24404600-24437400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:24405000-24427600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:24405400-24427000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:24405400-24427200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:24405400-24427200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:24405400-24427600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:24405400-24427600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr6:24405400-24428200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:24406000-24427000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:24406400-24427600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:24406600-24427400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:24407400-24426600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:24407400-24427200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:24407600-24426600	Strong transcription	Placenta	Placenta
15	chr6:24407600-24427000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr6:24407600-24427600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr6:24407600-24428200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr6:24407800-24426600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr6:24407800-24427600	Strong transcription	Fetal Thymus	thymus
20	chr6:24408000-24426800	Strong transcription	Osteobl	bone
21	chr6:24408000-24427800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:24409000-24427000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:24409200-24427600	Strong transcription	Dnd41	blood
24	chr6:24410000-24430800	Strong transcription	Left Ventricle	heart
25	chr6:24410600-24426600	Strong transcription	Fetal Intestine Large	intestine
26	chr6:24412200-24427600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:24412200-24427600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr6:24412200-24427600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr6:24412200-24427600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:24412200-24428200	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:24412400-24426800	Strong transcription	Adipose Nuclei	Adipose
32	chr6:24412400-24427200	Strong transcription	K562	blood
33	chr6:24412400-24427600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr6:24412400-24427600	Strong transcription	Fetal Brain Female	brain
35	chr6:24412600-24426600	Strong transcription	HMEC	breast
36	chr6:24412600-24428600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:24412600-24429000	Strong transcription	Primary B cells from cord blood	blood
38	chr6:24412600-24430800	Strong transcription	Primary T cells from cord blood	blood
39	chr6:24412800-24427200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:24413400-24427800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:24413400-24429600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:24416600-24426600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr6:24416600-24427600	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr6:24417400-24427600	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:24417400-24451800	Strong transcription	Liver	Liver
46	chr6:24419400-24427200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr6:24420000-24428200	Strong transcription	GM12878-XiMat	blood
48	chr6:24420600-24428800	Weak transcription	Stomach Mucosa	stomach
49	chr6:24420600-24429000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr6:24421200-24428600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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