Variant report

Variant	esv3400473
Chromosome Location	chr3:42833098-42835496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:42833203..42834842-chr3:42834877..42836763,2	MCF-7	breast:
2	chr3:42831182..42835559-chr3:42843260..42847112,5	K562	blood:
3	chr3:42833203..42834842-chr3:42834877..42836763,2	MCF-7	breast:
4	chr3:42827288..42829555-chr3:42832078..42833794,2	K562	blood:
5	chr3:42833054..42839463-chr3:42839853..42848908,22	MCF-7	breast:
6	chr3:42830549..42834930-chr3:42834971..42839390,5	K562	blood:
7	chr3:42824804..42827092-chr3:42834818..42838109,3	K562	blood:
8	chr3:42834430..42837380-chr3:42848485..42850165,2	K562	blood:
9	chr3:42828413..42830018-chr3:42834940..42837026,2	K562	blood:
10	chr3:42821025..42823114-chr3:42833487..42836032,2	MCF-7	breast:
11	chr3:42830549..42834930-chr3:42834971..42839390,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181061	chromatin interactions
ENSG00000144648	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182284161	chr3:42833135-42833136	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs575029582	chr3:42833145-42833146	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs187178425	chr3:42833175-42833176	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs34868846	chr3:42833215-42833216	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528667461	chr3:42833217-42833218	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs35944388	chr3:42833267-42833268	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs376941606	chr3:42833273-42833274	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs528085622	chr3:42833279-42833280	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113301685	chr3:42833306-42833307	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs546455710	chr3:42833416-42833417	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs564196949	chr3:42833505-42833506	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs551528466	chr3:42833518-42833519	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565208582	chr3:42833568-42833569	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs192548614	chr3:42833593-42833594	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs370976519	chr3:42833689-42833690	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs185341138	chr3:42833742-42833743	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs556920031	chr3:42833784-42833785	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs567111990	chr3:42833817-42833818	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs146823751	chr3:42833888-42833889	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs145335948	chr3:42833891-42833892	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs572731730	chr3:42833931-42833932	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs544790530	chr3:42833953-42833954	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs145257505	chr3:42833961-42833962	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs189869489	chr3:42833964-42833965	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs149174407	chr3:42833973-42833974	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs563708104	chr3:42833982-42833983	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs574046711	chr3:42833989-42833990	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs543363137	chr3:42834034-42834035	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs7650269	chr3:42834036-42834037	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528730422	chr3:42834047-42834048	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs569240723	chr3:42834082-42834083	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs184850884	chr3:42834107-42834108	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs550732347	chr3:42834108-42834109	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs565290011	chr3:42834109-42834110	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs530640646	chr3:42834144-42834145	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs550371432	chr3:42834151-42834152	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs567276511	chr3:42834180-42834181	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs535825332	chr3:42834282-42834283	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs143278572	chr3:42834295-42834296	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs566422953	chr3:42834298-42834299	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs548701582	chr3:42834334-42834335	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs538489730	chr3:42834339-42834340	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs34974363	chr3:42834342-42834343	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs151312568	chr3:42834351-42834352	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs189323482	chr3:42834371-42834372	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557145462	chr3:42834422-42834423	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs574109553	chr3:42834471-42834472	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs543027333	chr3:42834477-42834478	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs79582578	chr3:42834490-42834491	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs78171889	chr3:42834491-42834492	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42814800-42840800	Weak transcription	Spleen	Spleen
2	chr3:42815000-42834800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:42815200-42834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:42815200-42834800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:42815200-42834800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:42815200-42834800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:42815200-42834800	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:42815200-42834800	Weak transcription	Ovary	ovary
9	chr3:42815200-42834800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:42815200-42834800	Weak transcription	A549	lung
11	chr3:42815200-42835200	Weak transcription	Right Ventricle	heart
12	chr3:42815200-42836400	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:42815200-42837400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:42815200-42842000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:42815200-42842200	Weak transcription	Aorta	Aorta
16	chr3:42815200-42842400	Weak transcription	Psoas Muscle	Psoas
17	chr3:42815400-42833600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:42815400-42834400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:42815400-42834800	Weak transcription	Brain Germinal Matrix	brain
20	chr3:42815400-42837200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:42815400-42844000	Weak transcription	NHDF-Ad	bronchial
22	chr3:42815600-42841800	Weak transcription	Thymus	Thymus
23	chr3:42815600-42842000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:42815600-42842000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:42816200-42837600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr3:42820400-42834800	Weak transcription	HSMMtube	muscle
27	chr3:42821400-42837400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:42821800-42834800	Weak transcription	Esophagus	oesophagus
29	chr3:42821800-42834800	Weak transcription	Pancreas	Pancrea
30	chr3:42822000-42841200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr3:42822400-42834800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:42822400-42834800	Weak transcription	NHLF	lung
33	chr3:42822400-42837200	Weak transcription	Brain Angular Gyrus	brain
34	chr3:42822400-42843400	Weak transcription	Small Intestine	intestine
35	chr3:42822800-42834800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:42822800-42837000	Weak transcription	Brain Anterior Caudate	brain
37	chr3:42822800-42841600	Weak transcription	Brain Substantia Nigra	brain
38	chr3:42822800-42842800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:42822800-42844000	Weak transcription	Fetal Kidney	kidney
40	chr3:42822800-42844200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr3:42823000-42842800	Weak transcription	Fetal Brain Male	brain
42	chr3:42823600-42834800	Weak transcription	Colonic Mucosa	Colon
43	chr3:42823600-42836400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:42824000-42835400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr3:42824000-42836400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:42824400-42836400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr3:42825000-42834800	Weak transcription	Fetal Brain Female	brain
48	chr3:42825200-42834800	Weak transcription	Primary T cells from cord blood	blood
49	chr3:42825200-42834800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr3:42825200-42843800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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