Variant report

Variant	esv3401011
Chromosome Location	chr3:196086397-196090496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196087051..196089707-chr3:196092775..196094458,2	K562	blood:
2	chr3:196054797..196056651-chr3:196089177..196091738,2	K562	blood:
3	chr3:196068603..196070479-chr3:196087744..196090731,2	K562	blood:
4	chr3:196078088..196079673-chr3:196083665..196086587,2	MCF-7	breast:
5	chr3:196081918..196083846-chr3:196086932..196089024,2	MCF-7	breast:
6	chr3:196084775..196086464-chr3:196096012..196098919,2	K562	blood:
7	chr3:196075057..196077486-chr3:196084676..196086437,2	K562	blood:

Extended variants
information (count: 153 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114648620	chr3:196086415-196086416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550955990	chr3:196086472-196086473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539870613	chr3:196086488-196086489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558822868	chr3:196086506-196086507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141110082	chr3:196086507-196086508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183413847	chr3:196086528-196086529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11712853	chr3:196086556-196086557	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187907131	chr3:196086601-196086602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556049601	chr3:196086637-196086638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192421672	chr3:196086648-196086649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560417982	chr3:196086714-196086715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527666366	chr3:196086731-196086732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552652195	chr3:196086732-196086733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571557270	chr3:196086739-196086740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138741517	chr3:196086755-196086756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550457116	chr3:196086765-196086766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569056045	chr3:196086769-196086770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536091924	chr3:196086800-196086801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554626264	chr3:196086907-196086908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566276398	chr3:196086942-196086943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148926988	chr3:196086960-196086961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558137989	chr3:196086995-196086996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182290832	chr3:196086999-196087000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147075008	chr3:196087000-196087001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556443264	chr3:196087022-196087023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116657235	chr3:196087084-196087085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560567426	chr3:196087090-196087091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34702811	chr3:196087107-196087108	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538710020	chr3:196087108-196087109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186728312	chr3:196087133-196087134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117480216	chr3:196087152-196087153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116441281	chr3:196087159-196087160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554288646	chr3:196087186-196087187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376356536	chr3:196087193-196087194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115653122	chr3:196087220-196087221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572098296	chr3:196087246-196087247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138400719	chr3:196087248-196087249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529895539	chr3:196087257-196087258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546310361	chr3:196087296-196087297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566188027	chr3:196087395-196087396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533642452	chr3:196087399-196087400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143893723	chr3:196087460-196087461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535917846	chr3:196087480-196087481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537481390	chr3:196087492-196087493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147409755	chr3:196087581-196087582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542641403	chr3:196087617-196087618	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373534375	chr3:196087658-196087659	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112640601	chr3:196087782-196087783	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192189734	chr3:196087797-196087798	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572526882	chr3:196087798-196087799	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196054600-196091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:196070600-196106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:196071800-196100800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:196072400-196099600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:196073600-196135800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:196074200-196099000	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr3:196074800-196087200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:196074800-196099000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:196077000-196100400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:196077200-196087600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:196077600-196089800	Strong transcription	Osteobl	bone
12	chr3:196077800-196093200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr3:196077800-196095200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr3:196078600-196089800	Strong transcription	Primary T cells from cord blood	blood
15	chr3:196078800-196090000	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr3:196078800-196095000	Strong transcription	Fetal Muscle Leg	muscle
17	chr3:196079200-196089600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:196079600-196090800	Strong transcription	Fetal Intestine Large	intestine
19	chr3:196079800-196087000	Weak transcription	Pancreas	Pancrea
20	chr3:196079800-196089800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:196079800-196089800	Strong transcription	Adipose Nuclei	Adipose
22	chr3:196079800-196089800	Strong transcription	Liver	Liver
23	chr3:196079800-196091400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:196079800-196096800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:196079800-196099000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:196080000-196089800	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:196080000-196090400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:196080000-196090600	Strong transcription	Placenta	Placenta
29	chr3:196080000-196090600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr3:196080000-196091400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr3:196080000-196093400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:196080200-196089800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:196080200-196090600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr3:196080400-196090600	Strong transcription	Fetal Thymus	thymus
35	chr3:196080600-196089800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:196080600-196090000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr3:196080600-196090800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr3:196080600-196095000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:196080600-196100800	Strong transcription	Dnd41	blood
40	chr3:196080800-196087600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:196080800-196089400	Strong transcription	Fetal Brain Female	brain
42	chr3:196080800-196089600	Strong transcription	Brain Hippocampus Middle	brain
43	chr3:196080800-196089600	Strong transcription	HSMMtube	muscle
44	chr3:196080800-196089800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:196080800-196089800	Strong transcription	Primary B cells from cord blood	blood
46	chr3:196080800-196090400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:196080800-196090800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr3:196080800-196090800	Strong transcription	Ovary	ovary
49	chr3:196080800-196092600	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr3:196081000-196089400	Strong transcription	H9 Cell Line	embryonic stem cell

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