Variant report

Variant	esv3450476
Chromosome Location	chr3:81798912-81800910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:81800256..81803199-chr3:81804169..81806874,2	K562	blood:
2	chr3:81800238..81804445-chr3:81807593..81811759,7	MCF-7	breast:
3	chr3:81797341..81800582-chr3:81808703..81810715,3	K562	blood:
4	chr3:81797791..81799957-chr3:81809417..81811244,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114480	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142847154	chr3:81798953-81798954	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111893138	chr3:81798958-81798959	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569765198	chr3:81799005-81799006	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs569859285	chr3:81799024-81799025	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs192792468	chr3:81799050-81799051	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542706916	chr3:81799058-81799059	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs7634258	chr3:81799100-81799101	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs142412350	chr3:81799159-81799160	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74551007	chr3:81799160-81799161	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs144777805	chr3:81799200-81799201	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs184909861	chr3:81799237-81799238	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567537833	chr3:81799240-81799241	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78993859	chr3:81799268-81799269	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536980956	chr3:81799317-81799318	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62267113	chr3:81799326-81799327	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373039561	chr3:81799413-81799414	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565590010	chr3:81799415-81799416	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370283082	chr3:81799425-81799426	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576751999	chr3:81799434-81799435	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531097955	chr3:81799439-81799440	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558691490	chr3:81799441-81799442	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189420022	chr3:81799483-81799484	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541047058	chr3:81799507-81799508	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560969791	chr3:81799541-81799542	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574326813	chr3:81799544-81799545	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543743978	chr3:81799599-81799600	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180977763	chr3:81799618-81799619	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199514159	chr3:81799619-81799620	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532183081	chr3:81799630-81799631	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138664516	chr3:81799644-81799645	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200708858	chr3:81799675-81799676	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565059345	chr3:81799676-81799677	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202044662	chr3:81799686-81799687	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527745142	chr3:81799687-81799688	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200061335	chr3:81799688-81799689	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201952737	chr3:81799689-81799690	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547552185	chr3:81799690-81799691	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs67217261	chr3:81799691-81799692	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184977394	chr3:81799701-81799702	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58623743	chr3:81799702-81799703	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57921770	chr3:81799704-81799705	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546727944	chr3:81799713-81799714	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57756683	chr3:81799714-81799715	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59651251	chr3:81799718-81799719	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28390221	chr3:81799720-81799721	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57979591	chr3:81799727-81799728	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199515105	chr3:81799728-81799729	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60176772	chr3:81799734-81799735	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377337869	chr3:81799736-81799737	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570318700	chr3:81799738-81799739	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81776000-81807400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:81781000-81809400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:81782200-81800400	Weak transcription	Primary B cells from cord blood	blood
4	chr3:81782400-81800200	Weak transcription	Left Ventricle	heart
5	chr3:81791200-81808800	Weak transcription	Primary T cells from cord blood	blood
6	chr3:81791600-81803400	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:81792000-81810200	Weak transcription	Spleen	Spleen
8	chr3:81792800-81802800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:81793000-81802800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:81793000-81809600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:81793200-81803800	Weak transcription	Aorta	Aorta
12	chr3:81793200-81809200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:81793400-81801600	Weak transcription	Fetal Intestine Small	intestine
14	chr3:81793400-81803600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:81793800-81800200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:81793800-81802600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:81793800-81808600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr3:81793800-81809200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr3:81793800-81810000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:81794000-81802800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:81794000-81807000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:81794200-81800200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr3:81794200-81803600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:81794400-81800600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:81794400-81808600	Weak transcription	K562	blood
26	chr3:81794800-81800200	Weak transcription	Liver	Liver
27	chr3:81794800-81807200	Weak transcription	HMEC	breast
28	chr3:81795400-81799200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr3:81795600-81800000	Weak transcription	Psoas Muscle	Psoas
30	chr3:81795600-81800200	Weak transcription	Right Ventricle	heart
31	chr3:81795600-81800400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr3:81795600-81810000	Weak transcription	Lung	lung
33	chr3:81796000-81808600	Weak transcription	Small Intestine	intestine
34	chr3:81796200-81809200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr3:81796800-81800200	Weak transcription	HSMM	muscle
36	chr3:81796800-81802600	Weak transcription	Pancreas	Pancrea
37	chr3:81796800-81809200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr3:81797200-81804000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:81797400-81809800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:81797800-81800400	Strong transcription	Dnd41	blood
41	chr3:81797800-81803200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:81797800-81807200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:81798200-81799200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr3:81798200-81799200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:81798200-81799400	Genic enhancers	Muscle Satellite Cultured Cells	--
46	chr3:81798200-81799400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:81798200-81799600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr3:81798400-81799000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:81798400-81799000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:81798400-81799000	Enhancers	Fetal Heart	heart

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