Variant report

Variant	esv2498896
Chromosome Location	chr3:196076505-196077881
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:196075208..196077147-chr3:196092835..196095668,2	MCF-7	breast:
2	chr3:196062135..196067019-chr3:196076390..196080576,5	K562	blood:
3	chr3:196070139..196072879-chr3:196076090..196077663,2	K562	blood:
4	chr3:196075057..196077486-chr3:196084676..196086437,2	K562	blood:
5	chr3:196072873..196076573-chr3:196158373..196161329,3	MCF-7	breast:
6	chr3:196071912..196074086-chr3:196075769..196077797,2	MCF-7	breast:
7	chr19:2234775..2236762-chr3:196074276..196076794,2	MCF-7	breast:
8	chr3:196074463..196076751-chr3:196080961..196082599,3	MCF-7	breast:
9	chr3:196067298..196070005-chr3:196075365..196077810,2	K562	blood:
10	chr3:196068348..196070158-chr3:196074928..196076712,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163960	chromatin interactions
ENSG00000104886	chromatin interactions
ENSG00000104897	chromatin interactions
ENSG00000212146	chromatin interactions
ENSG00000145107	chromatin interactions
ENSG00000273331	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 82 )

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	rs570356355	chr3:196076533-196076534	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs537752355	chr3:196076547-196076548	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs182734399	chr3:196076581-196076582	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs79608689	chr3:196076585-196076586	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs534772308	chr3:196076622-196076623	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs553413029	chr3:196076663-196076664	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs561887725	chr3:196076691-196076692	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs541716165	chr3:196076735-196076736	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs4513483	chr3:196076739-196076740	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187020861	chr3:196076743-196076744	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs142272327	chr3:196076764-196076765	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs543315367	chr3:196076771-196076772	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs552652755	chr3:196076804-196076805	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs115707858	chr3:196076847-196076848	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs116163135	chr3:196076891-196076892	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs547304312	chr3:196076913-196076914	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs559395961	chr3:196076960-196076961	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs532928429	chr3:196077044-196077045	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs374890699	chr3:196077071-196077072	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs551357242	chr3:196077164-196077165	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs569674476	chr3:196077258-196077259	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs537709592	chr3:196077303-196077304	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs60230269	chr3:196077383-196077384	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs35929722	chr3:196077420-196077421	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs551105461	chr3:196077449-196077450	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs567895417	chr3:196077460-196077461	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs71301220	chr3:196077466-196077467	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs72222392	chr3:196077467-196077468	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs58778463	chr3:196077470-196077471	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs77844343	chr3:196077471-196077472	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs117144992	chr3:196077555-196077556	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs145881463	chr3:196077612-196077613	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs578042657	chr3:196077629-196077630	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs538764290	chr3:196077646-196077647	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs114394052	chr3:196077654-196077655	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs192168083	chr3:196077728-196077729	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs116562883	chr3:196077836-196077837	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs184521375	chr3:196077852-196077853	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs573900342	chr3:196077859-196077860	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196054600-196091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:196065600-196080800	Weak transcription	HSMMtube	muscle
3	chr3:196065600-196082400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:196065600-196082600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:196065600-196084200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:196066200-196081200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:196068000-196079000	Weak transcription	Fetal Intestine Small	intestine
8	chr3:196068000-196080800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:196068600-196076600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:196068600-196077600	Weak transcription	Osteobl	bone
11	chr3:196068600-196080800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:196068600-196081000	Weak transcription	NHDF-Ad	bronchial
13	chr3:196070000-196080600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:196070400-196082200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:196070400-196082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:196070400-196082400	Weak transcription	HMEC	breast
17	chr3:196070600-196082600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:196070600-196106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:196070800-196080800	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:196070800-196081200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:196070800-196081800	Weak transcription	Brain Germinal Matrix	brain
22	chr3:196070800-196082600	Weak transcription	Aorta	Aorta
23	chr3:196071000-196081000	Weak transcription	NHEK	skin
24	chr3:196071000-196081200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:196071000-196081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:196071000-196082600	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:196071400-196080600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr3:196071400-196081000	Weak transcription	Brain Substantia Nigra	brain
29	chr3:196071800-196082600	Weak transcription	Gastric	stomach
30	chr3:196071800-196100800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:196072000-196080800	Weak transcription	NHLF	lung
32	chr3:196072200-196076600	Weak transcription	Adipose Nuclei	Adipose
33	chr3:196072200-196081200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr3:196072400-196080000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr3:196072400-196099600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:196072600-196082600	Weak transcription	Lung	lung
37	chr3:196072800-196077600	Weak transcription	Fetal Lung	lung
38	chr3:196072800-196080600	Weak transcription	Dnd41	blood
39	chr3:196072800-196081800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:196072800-196082200	Weak transcription	Brain Angular Gyrus	brain
41	chr3:196072800-196082200	Weak transcription	Fetal Heart	heart
42	chr3:196072800-196082600	Weak transcription	Fetal Kidney	kidney
43	chr3:196073000-196080800	Weak transcription	Ovary	ovary
44	chr3:196073000-196081000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr3:196073000-196082600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:196073000-196082600	Weak transcription	Spleen	Spleen
47	chr3:196073200-196081200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:196073200-196082200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr3:196073200-196082200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr3:196073600-196080600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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