Variant report

Variant	esv20031
Chromosome Location	chr2:98544799-98547910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98497589..98500393-chr2:98543704..98546124,2	MCF-7	breast:
2	chr2:98543155..98545618-chr2:98548793..98550382,2	MCF-7	breast:

Extended variants
information (count: 107 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566099458	chr2:98544802-98544803	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190766674	chr2:98544806-98544807	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568074150	chr2:98544826-98544827	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533537612	chr2:98544875-98544876	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539476328	chr2:98545026-98545027	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369944500	chr2:98545040-98545041	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570167420	chr2:98545044-98545045	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs36055298	chr2:98545054-98545055	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539654820	chr2:98545087-98545088	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374335007	chr2:98545124-98545125	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377663180	chr2:98545131-98545132	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551735744	chr2:98545197-98545198	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181218019	chr2:98545202-98545203	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112979635	chr2:98545262-98545263	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372269632	chr2:98545290-98545291	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536177227	chr2:98545291-98545292	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555772104	chr2:98545319-98545320	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570292502	chr2:98545324-98545325	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78379854	chr2:98545391-98545392	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148788272	chr2:98545418-98545419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142469879	chr2:98545474-98545475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs151288612	chr2:98545484-98545485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546036090	chr2:98545561-98545562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111647724	chr2:98545593-98545594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562644683	chr2:98545598-98545599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139364773	chr2:98545613-98545614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548497274	chr2:98545640-98545641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555543568	chr2:98545652-98545653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145601780	chr2:98545669-98545670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527285990	chr2:98545671-98545672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573856956	chr2:98545675-98545676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147791321	chr2:98545707-98545708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539121699	chr2:98545717-98545718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74506652	chr2:98545756-98545757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570266701	chr2:98545768-98545769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542634939	chr2:98545776-98545777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79740611	chr2:98545810-98545811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556069259	chr2:98545812-98545813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs956696	chr2:98545841-98545842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs535024474	chr2:98545848-98545849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558147681	chr2:98545849-98545850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185875319	chr2:98545865-98545866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75919948	chr2:98545904-98545905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576226558	chr2:98545914-98545915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190247312	chr2:98545915-98545916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370495328	chr2:98545955-98545956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182375517	chr2:98546032-98546033	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs527557369	chr2:98546080-98546081	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs547013335	chr2:98546098-98546099	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs563770760	chr2:98546130-98546131	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98504600-98552200	Weak transcription	NHLF	lung
2	chr2:98520200-98546000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:98520200-98552200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:98520600-98550600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:98523400-98545800	Weak transcription	Fetal Kidney	kidney
6	chr2:98523400-98546200	Weak transcription	HUVEC	blood vessel
7	chr2:98524600-98552600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:98524800-98552200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:98525000-98551600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:98525200-98547400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:98525600-98548200	Weak transcription	Pancreas	Pancrea
12	chr2:98528600-98550600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:98529000-98552200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:98531000-98552400	Weak transcription	Right Atrium	heart
15	chr2:98531200-98552200	Weak transcription	Fetal Thymus	thymus
16	chr2:98531600-98546000	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:98531600-98548200	Weak transcription	K562	blood
18	chr2:98533000-98547600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:98533800-98546000	Weak transcription	Fetal Heart	heart
20	chr2:98533800-98552000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:98534200-98547600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:98534200-98551600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:98535600-98545600	Weak transcription	Brain Substantia Nigra	brain
24	chr2:98535600-98546000	Weak transcription	Brain Anterior Caudate	brain
25	chr2:98536600-98545200	Weak transcription	Psoas Muscle	Psoas
26	chr2:98536800-98545000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:98538600-98546000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:98538800-98548200	Weak transcription	Gastric	stomach
29	chr2:98538800-98552400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:98539000-98551600	Weak transcription	A549	lung
31	chr2:98539200-98546000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:98539400-98545000	Weak transcription	Brain Germinal Matrix	brain
33	chr2:98541000-98546400	Weak transcription	Stomach Mucosa	stomach
34	chr2:98541200-98546000	Weak transcription	Spleen	Spleen
35	chr2:98541200-98552400	Weak transcription	Esophagus	oesophagus
36	chr2:98541400-98552200	Weak transcription	NHEK	skin
37	chr2:98541600-98550400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:98541600-98552400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:98541600-98552400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:98541600-98552400	Weak transcription	Aorta	Aorta
41	chr2:98541600-98552400	Weak transcription	Lung	lung
42	chr2:98541800-98547400	Weak transcription	Fetal Intestine Small	intestine
43	chr2:98541800-98552400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:98542000-98546000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:98542000-98546000	Weak transcription	Adipose Nuclei	Adipose
46	chr2:98542000-98546000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:98542000-98546000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:98542000-98546000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:98542000-98547200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:98542000-98547200	Weak transcription	NHDF-Ad	bronchial

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