Variant report

Variant	esv3330719
Chromosome Location	chr6:13793250-13793560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13782601..13784296-chr6:13792088..13794112,2	MCF-7	breast:
2	chr6:13711644..13714237-chr6:13792795..13794426,2	K562	blood:
3	chr6:13709823..13712902-chr6:13793463..13795920,4	MCF-7	breast:
4	chr6:13793263..13796743-chr6:13799155..13802204,3	K562	blood:

Variant related genes	Relation type
ENSG00000050393	chromatin interactions
ENSG00000010017	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555261998	chr6:13793254-13793255	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575187503	chr6:13793265-13793266	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs553983166	chr6:13793268-13793269	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs577031016	chr6:13793275-13793276	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545876686	chr6:13793291-13793292	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs376417333	chr6:13793358-13793359	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs70989887	chr6:13793378-13793379	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs539964057	chr6:13793393-13793394	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs377593027	chr6:13793396-13793397	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs372954745	chr6:13793403-13793404	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs560061794	chr6:13793440-13793441	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs188150551	chr6:13793445-13793446	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs192869235	chr6:13793461-13793462	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs149471274	chr6:13793462-13793463	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs562350793	chr6:13793499-13793500	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs66520959	chr6:13793553-13793554	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13766800-13802400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:13780800-13797800	Weak transcription	Thymus	Thymus
3	chr6:13781000-13801200	Weak transcription	Psoas Muscle	Psoas
4	chr6:13781000-13802000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:13784600-13794600	Weak transcription	A549	lung
6	chr6:13785000-13800800	Weak transcription	Brain Angular Gyrus	brain
7	chr6:13785200-13801600	Weak transcription	Gastric	stomach
8	chr6:13785400-13800600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:13786000-13801200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr6:13786400-13794800	Weak transcription	NHLF	lung
11	chr6:13787000-13794400	Weak transcription	HMEC	breast
12	chr6:13787400-13794400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:13787400-13794400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:13787400-13794600	Strong transcription	Fetal Intestine Large	intestine
15	chr6:13787400-13794600	Strong transcription	Dnd41	blood
16	chr6:13787600-13799400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:13787800-13800600	Weak transcription	Brain Anterior Caudate	brain
18	chr6:13787800-13801200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:13788000-13794000	Weak transcription	NH-A	brain
20	chr6:13788000-13794200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:13788000-13794200	Weak transcription	Osteobl	bone
22	chr6:13788000-13795600	Weak transcription	Fetal Brain Female	brain
23	chr6:13788000-13795800	Weak transcription	Fetal Brain Male	brain
24	chr6:13788000-13799000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:13788000-13799000	Weak transcription	Right Ventricle	heart
26	chr6:13788000-13799200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:13788000-13799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:13788000-13799200	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:13788000-13801200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr6:13788000-13802600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:13788000-13810600	Weak transcription	Fetal Heart	heart
32	chr6:13788000-13810800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:13788000-13812200	Weak transcription	Aorta	Aorta
34	chr6:13788000-13813200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:13788000-13813400	Weak transcription	Brain Germinal Matrix	brain
36	chr6:13788200-13793600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:13788200-13794000	Strong transcription	Fetal Muscle Leg	muscle
38	chr6:13788200-13795800	Weak transcription	Colon Smooth Muscle	Colon
39	chr6:13788200-13807600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:13788400-13794600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:13788400-13794600	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:13788400-13800800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:13788400-13801200	Weak transcription	Esophagus	oesophagus
44	chr6:13788400-13810600	Weak transcription	Colonic Mucosa	Colon
45	chr6:13788600-13793800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:13788600-13794400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr6:13788600-13794800	Strong transcription	Placenta	Placenta
48	chr6:13788600-13797400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:13788600-13810800	Weak transcription	Stomach Mucosa	stomach
50	chr6:13788800-13795200	Strong transcription	Fetal Thymus	thymus

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