Variant report

Variant	esv3414201
Chromosome Location	chr3:143540821-143541287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143534241..143536547-chr3:143539436..143542162,2	K562	blood:
2	chr3:143540836..143543345-chr3:143547418..143549416,3	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530197165	chr3:143540826-143540827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548396798	chr3:143540833-143540834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115966715	chr3:143540838-143540839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578188496	chr3:143540840-143540841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545719898	chr3:143540860-143540861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557417354	chr3:143540861-143540862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11919227	chr3:143540868-143540869	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191395420	chr3:143540911-143540912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73869032	chr3:143540932-143540933	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs370727904	chr3:143540938-143540939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528191568	chr3:143540969-143540970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539904766	chr3:143540982-143540983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564745296	chr3:143541011-143541012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532127706	chr3:143541047-143541048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6806661	chr3:143541114-143541115	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569097549	chr3:143541127-143541128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73159807	chr3:143541177-143541178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549130983	chr3:143541209-143541210	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs567630836	chr3:143541219-143541220	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs143961360	chr3:143541235-143541236	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs4839668	chr3:143541237-143541238	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571767729	chr3:143541250-143541251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs148627735	chr3:143541276-143541277	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs557517997	chr3:143541280-143541281	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Autism	22495309	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143514200-143544200	Weak transcription	Primary T cells from cord blood	blood
2	chr3:143529600-143543800	Weak transcription	Stomach Mucosa	stomach
3	chr3:143531000-143543200	Weak transcription	NHDF-Ad	bronchial
4	chr3:143531800-143543200	Weak transcription	Aorta	Aorta
5	chr3:143533600-143543200	Weak transcription	Fetal Lung	lung
6	chr3:143533800-143543200	Weak transcription	Right Atrium	heart
7	chr3:143536000-143545200	Weak transcription	Gastric	stomach
8	chr3:143538000-143542200	Enhancers	Brain Substantia Nigra	brain
9	chr3:143538600-143542000	Enhancers	Brain Cingulate Gyrus	brain
10	chr3:143538800-143541800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr3:143539000-143542200	Enhancers	Brain Hippocampus Middle	brain
12	chr3:143539200-143544600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr3:143539400-143541400	Enhancers	Spleen	Spleen
14	chr3:143539400-143541800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr3:143539400-143541800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:143539400-143545000	Weak transcription	Liver	Liver
17	chr3:143539600-143541200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:143539600-143541400	Enhancers	Primary hematopoietic stem cells	blood
19	chr3:143539600-143541800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:143539600-143546600	Weak transcription	Esophagus	oesophagus
21	chr3:143539600-143550000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:143539800-143541000	Enhancers	Fetal Muscle Trunk	muscle
23	chr3:143539800-143541200	Weak transcription	Psoas Muscle	Psoas
24	chr3:143539800-143541400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:143539800-143541400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:143539800-143541600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr3:143539800-143541600	Enhancers	GM12878-XiMat	blood
28	chr3:143539800-143558200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:143540000-143541000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:143540000-143541800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:143540000-143543000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:143540000-143549600	Weak transcription	HSMM	muscle
33	chr3:143540200-143541000	Weak transcription	HSMMtube	muscle
34	chr3:143540200-143541200	Weak transcription	Fetal Kidney	kidney
35	chr3:143540200-143542200	Enhancers	Brain Anterior Caudate	brain
36	chr3:143540400-143541000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:143540400-143542600	Enhancers	Adipose Nuclei	Adipose
38	chr3:143540600-143541200	Enhancers	Brain Angular Gyrus	brain
39	chr3:143540600-143541200	Enhancers	Lung	lung
40	chr3:143540600-143541400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:143540600-143541400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:143540600-143541400	Enhancers	Placenta	Placenta
43	chr3:143540600-143541400	Enhancers	Fetal Thymus	thymus
44	chr3:143540600-143541400	Enhancers	Dnd41	blood
45	chr3:143540600-143541600	Enhancers	Primary B cells from cord blood	blood
46	chr3:143540600-143541800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr3:143540600-143542200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:143540600-143542200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr3:143540600-143542400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr3:143540600-143542400	Enhancers	Fetal Muscle Leg	muscle

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