Variant report

Variant	esv3423161
Chromosome Location	chr3:79249062-79253860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 168 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs577793724	chr3:79249062-79249063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374371755	chr3:79249089-79249090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188486600	chr3:79249097-79249098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529126202	chr3:79249110-79249111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181304437	chr3:79249137-79249138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562104725	chr3:79249163-79249164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531199184	chr3:79249169-79249170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551501414	chr3:79249290-79249291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34804112	chr3:79249311-79249312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546612352	chr3:79249417-79249418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566579274	chr3:79249477-79249478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534419749	chr3:79249488-79249489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368932163	chr3:79249549-79249550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567962955	chr3:79249570-79249571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536904228	chr3:79249572-79249573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556885525	chr3:79249575-79249576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576550251	chr3:79249605-79249606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538632273	chr3:79249612-79249613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568056648	chr3:79249639-79249640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559045935	chr3:79249689-79249690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114090781	chr3:79249692-79249693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185207267	chr3:79249753-79249754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559870047	chr3:79249822-79249823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189574553	chr3:79249871-79249872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542555079	chr3:79249971-79249972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562439813	chr3:79249984-79249985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531366166	chr3:79250048-79250049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576646345	chr3:79250081-79250082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551055282	chr3:79250152-79250153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116827390	chr3:79250153-79250154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144747287	chr3:79250154-79250155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370522205	chr3:79250177-79250178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148135263	chr3:79250209-79250210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182033152	chr3:79250250-79250251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550521102	chr3:79250263-79250264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141925354	chr3:79250265-79250266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539042472	chr3:79250268-79250269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538716887	chr3:79250314-79250315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187648027	chr3:79250374-79250375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191576270	chr3:79250386-79250387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575506728	chr3:79250389-79250390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534770063	chr3:79250401-79250402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374583732	chr3:79250416-79250417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554635762	chr3:79250424-79250425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573547513	chr3:79250425-79250426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544582815	chr3:79250434-79250435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542391830	chr3:79250439-79250440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556072870	chr3:79250456-79250457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576228338	chr3:79250463-79250464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576254309	chr3:79250590-79250591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Acute myeloid leukemia	21251322	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
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79248400-79250200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:79248600-79249800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:79248600-79250000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:79248600-79251800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:79248600-79251800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:79248800-79250000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:79248800-79250000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:79248800-79250000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:79248800-79251800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:79249000-79250800	Enhancers	Rectal Smooth Muscle	rectum
11	chr3:79249200-79249800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:79249200-79249800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:79249200-79250000	Enhancers	Colon Smooth Muscle	Colon
14	chr3:79249200-79250200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:79249200-79252600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:79249600-79249800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr3:79249600-79250000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:79249800-79251200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:79249800-79252000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:79250000-79251400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:79250000-79251400	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:79250000-79251600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr3:79250000-79252000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:79250200-79251200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:79250200-79252000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:79251200-79251400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr3:79251200-79251800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:79251400-79251800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr3:79251400-79252200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr3:79251600-79253000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:79251800-79252000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr3:79251800-79252000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr3:79251800-79252000	Enhancers	Colon Smooth Muscle	Colon
34	chr3:79251800-79252600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr3:79251800-79252800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr3:79251800-79253000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr3:79251800-79253200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:79252000-79252200	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr3:79252000-79252200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr3:79252000-79252200	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr3:79252000-79252400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:79252000-79252800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:79252200-79252400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr3:79252200-79252400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr3:79252200-79252600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr3:79252200-79252600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr3:79252200-79252600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:79252400-79252600	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr3:79252400-79252800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr3:79252600-79253000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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