Variant report

Variant	esv3395394
Chromosome Location	chr2:98462270-98465868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567384421	chr2:98462331-98462332	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs144911144	chr2:98462394-98462395	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs115652492	chr2:98462458-98462459	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs555223477	chr2:98462562-98462563	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565974255	chr2:98462573-98462574	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs200233429	chr2:98462580-98462581	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs149103046	chr2:98462582-98462583	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs558080322	chr2:98462590-98462591	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs144907452	chr2:98462631-98462632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189053431	chr2:98462646-98462647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12712163	chr2:98462658-98462659	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs371687953	chr2:98462695-98462696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564943807	chr2:98462716-98462717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182135993	chr2:98462729-98462730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186783009	chr2:98462733-98462734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375855003	chr2:98462740-98462741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559653685	chr2:98462748-98462749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528678813	chr2:98462804-98462805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191228149	chr2:98462829-98462830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565221489	chr2:98462916-98462917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181350597	chr2:98462926-98462927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138633541	chr2:98462939-98462940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184940334	chr2:98463043-98463044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377724730	chr2:98463048-98463049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189846703	chr2:98463148-98463149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113794127	chr2:98463151-98463152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34103491	chr2:98463178-98463179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141735024	chr2:98463185-98463186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201533826	chr2:98463191-98463192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183160337	chr2:98463205-98463206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534796524	chr2:98463327-98463328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558119469	chr2:98463352-98463353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114898384	chr2:98463354-98463355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187948316	chr2:98463362-98463363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556951368	chr2:98463371-98463372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542922992	chr2:98463373-98463374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573692454	chr2:98463376-98463377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191547262	chr2:98463382-98463383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183496553	chr2:98463393-98463394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553032615	chr2:98463404-98463405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573389974	chr2:98463409-98463410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529937301	chr2:98463511-98463512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547366748	chr2:98463533-98463534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565256073	chr2:98463539-98463540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs70938540	chr2:98463549-98463550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531059984	chr2:98463608-98463609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188400261	chr2:98463737-98463738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548432426	chr2:98463821-98463822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72942834	chr2:98463826-98463827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530101288	chr2:98463830-98463831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98406400-98469200	Weak transcription	A549	lung
2	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
3	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
4	chr2:98424000-98475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:98428000-98466600	Weak transcription	K562	blood
6	chr2:98428600-98464600	Weak transcription	HSMMtube	muscle
7	chr2:98428800-98485000	Weak transcription	NHLF	lung
8	chr2:98429000-98470600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:98430000-98467800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:98431000-98466400	Weak transcription	NH-A	brain
11	chr2:98434200-98484000	Weak transcription	NHDF-Ad	bronchial
12	chr2:98434400-98466400	Weak transcription	Brain Substantia Nigra	brain
13	chr2:98434400-98485800	Weak transcription	Lung	lung
14	chr2:98446000-98475000	Weak transcription	Gastric	stomach
15	chr2:98447400-98465400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:98447800-98466200	Weak transcription	Psoas Muscle	Psoas
17	chr2:98447800-98479600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:98447800-98502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:98449600-98482000	Weak transcription	Fetal Kidney	kidney
20	chr2:98451800-98466200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:98457000-98466400	Weak transcription	Osteobl	bone
22	chr2:98457000-98477400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:98457000-98477400	Weak transcription	Esophagus	oesophagus
24	chr2:98457000-98478000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:98457000-98485600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:98457200-98466200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:98457200-98467600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:98457200-98485800	Weak transcription	Brain Anterior Caudate	brain
29	chr2:98457400-98466600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:98457400-98485800	Weak transcription	Aorta	Aorta
31	chr2:98457600-98465800	Weak transcription	Brain Angular Gyrus	brain
32	chr2:98457600-98468200	Weak transcription	Fetal Thymus	thymus
33	chr2:98457600-98469000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:98457600-98475000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:98457600-98475000	Weak transcription	Fetal Stomach	stomach
36	chr2:98457600-98475000	Weak transcription	Pancreas	Pancrea
37	chr2:98457600-98475000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:98457600-98475000	Weak transcription	Spleen	Spleen
39	chr2:98457600-98475200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:98457600-98477600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:98457600-98485400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:98457800-98466400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:98457800-98467600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:98457800-98467600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:98457800-98467800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:98457800-98473600	Weak transcription	Left Ventricle	heart
47	chr2:98457800-98474800	Weak transcription	Adipose Nuclei	Adipose
48	chr2:98457800-98475000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:98457800-98475200	Weak transcription	Thymus	Thymus
50	chr2:98457800-98478000	Weak transcription	Colonic Mucosa	Colon

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