Variant report

Variant	esv2554212
Chromosome Location	chr6:44933751-44935275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536082165	chr6:44933764-44933765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34887985	chr6:44933773-44933774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554389418	chr6:44933791-44933792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200388563	chr6:44933812-44933813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2160084	chr6:44933915-44933916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536641541	chr6:44933916-44933917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533911348	chr6:44933937-44933938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554445442	chr6:44933997-44933998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558324689	chr6:44934091-44934092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555736436	chr6:44934096-44934097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201469613	chr6:44934114-44934115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2160085	chr6:44934122-44934123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372558060	chr6:44934230-44934231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115030093	chr6:44934232-44934233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2110440	chr6:44934256-44934257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543855496	chr6:44934353-44934354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569153774	chr6:44934375-44934376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560686213	chr6:44934378-44934379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556085213	chr6:44934487-44934488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201141653	chr6:44934548-44934549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574369992	chr6:44934563-44934564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527923681	chr6:44934576-44934577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541658020	chr6:44934608-44934609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138706684	chr6:44934621-44934622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549488635	chr6:44934650-44934651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540247	chr6:44934766-44934767	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs116651491	chr6:44934835-44934836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531775555	chr6:44934861-44934862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189321014	chr6:44934934-44934935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557635351	chr6:44934947-44934948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193284578	chr6:44934961-44934962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531715261	chr6:44934993-44934994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529627483	chr6:44935009-44935010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117356070	chr6:44935054-44935055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143460441	chr6:44935064-44935065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147980984	chr6:44935088-44935089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574361676	chr6:44935089-44935090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558662128	chr6:44935124-44935125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184220687	chr6:44935274-44935275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44919600-44943200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:44920600-44937600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:44923400-44935000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:44928800-44933800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:44929000-44933800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:44929200-44933800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:44929200-44934600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:44930800-44934200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:44932400-44933800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:44933400-44933800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:44933600-44933800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:44933600-44934000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr6:44933600-44934800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:44933600-44934800	Enhancers	Brain Hippocampus Middle	brain
15	chr6:44933600-44935400	Enhancers	NH-A	brain
16	chr6:44933600-44935400	Enhancers	NHEK	skin
17	chr6:44933600-44937800	Enhancers	Fetal Heart	heart
18	chr6:44933800-44934000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:44933800-44934600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:44933800-44934600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:44933800-44934600	Enhancers	Hela-S3	cervix
22	chr6:44933800-44935400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:44933800-44935400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:44933800-44935800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:44934000-44934400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:44934000-44939800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:44934200-44934600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:44934200-44934800	Enhancers	HUVEC	blood vessel
29	chr6:44934200-44935000	Enhancers	Osteobl	bone
30	chr6:44934200-44935400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:44934200-44935400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:44934200-44935400	Enhancers	A549	lung
33	chr6:44934200-44935600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:44934400-44934600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:44934400-44934600	Enhancers	HSMMtube	muscle
36	chr6:44934400-44934800	Enhancers	NHLF	lung
37	chr6:44934400-44935200	Enhancers	HSMM	muscle
38	chr6:44934400-44935600	Enhancers	Colon Smooth Muscle	Colon
39	chr6:44934600-44934800	Enhancers	Brain Angular Gyrus	brain
40	chr6:44934600-44935000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:44934600-44935200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:44934600-44935600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:44934600-44935600	Enhancers	K562	blood
44	chr6:44934600-44936400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr6:44934600-44936800	Enhancers	Ovary	ovary
46	chr6:44934600-44938200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:44934800-44936400	Weak transcription	Brain Angular Gyrus	brain
48	chr6:44935000-44935200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:44935000-44935200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:44935000-44935400	Enhancers	NHLF	lung

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