Variant report

Variant	esv3407788
Chromosome Location	chr2:127799382-127804180
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	chr2:127800876..127803938-chr2:127806149..127808710,3	MCF-7	breast:
2	chr2:127781170..127783496-chr2:127799627..127801145,2	K562	blood:

Variant related genes	Relation type
ENSG00000260163	chromatin interactions
ENSG00000260634	chromatin interactions

Extended variants
information (count: 251 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550635343	chr2:127799395-127799396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs60205269	chr2:127799414-127799415	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547743354	chr2:127799463-127799464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570873129	chr2:127799478-127799479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74405637	chr2:127799548-127799549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374486043	chr2:127799562-127799563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377725901	chr2:127799563-127799564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572169085	chr2:127799586-127799587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11897490	chr2:127799649-127799650	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs534798266	chr2:127799684-127799685	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs111647945	chr2:127799747-127799748	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs373907759	chr2:127799760-127799761	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs532550754	chr2:127799763-127799764	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs376563531	chr2:127799764-127799765	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs370548695	chr2:127799765-127799766	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs61229082	chr2:127799772-127799773	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs557729069	chr2:127799773-127799774	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs577659297	chr2:127799830-127799831	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs557275228	chr2:127799831-127799832	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544076278	chr2:127799832-127799833	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs533396120	chr2:127799892-127799893	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563852734	chr2:127799969-127799970	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184541842	chr2:127800006-127800007	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs542818206	chr2:127800012-127800013	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs112566018	chr2:127800050-127800051	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs34203206	chr2:127800055-127800056	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs397798757	chr2:127800077-127800078	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs559995858	chr2:127800094-127800095	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs528144240	chr2:127800097-127800098	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs189372310	chr2:127800129-127800130	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532558595	chr2:127800236-127800237	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs570209170	chr2:127800284-127800285	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs193052970	chr2:127800292-127800293	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs558171373	chr2:127800312-127800313	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs56049505	chr2:127800315-127800316	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs567415248	chr2:127800325-127800326	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs536557364	chr2:127800336-127800337	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs546343494	chr2:127800360-127800361	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs555546275	chr2:127800362-127800363	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs62157849	chr2:127800377-127800378	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs57460572	chr2:127800418-127800419	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534786529	chr2:127800498-127800499	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs557861803	chr2:127800515-127800516	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs116973883	chr2:127800523-127800524	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs370347071	chr2:127800553-127800554	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557339299	chr2:127800597-127800598	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs112401561	chr2:127800603-127800604	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs376983157	chr2:127800634-127800635	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs4662702	chr2:127800705-127800706	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs2164873	chr2:127800711-127800712	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127783800-127815600	Weak transcription	Aorta	Aorta
2	chr2:127793200-127801200	Weak transcription	Fetal Lung	lung
3	chr2:127793200-127805400	Weak transcription	Liver	Liver
4	chr2:127795600-127801400	Weak transcription	Fetal Heart	heart
5	chr2:127795800-127807600	Weak transcription	Brain Germinal Matrix	brain
6	chr2:127797600-127805200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:127797800-127803600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:127797800-127805600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:127798200-127811400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:127799000-127799800	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:127799200-127799400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:127799200-127799400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:127799200-127799400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:127799200-127799800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:127799400-127799600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:127799400-127799600	Enhancers	Brain Angular Gyrus	brain
17	chr2:127799400-127799600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:127799400-127799600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:127799400-127799600	Enhancers	Right Ventricle	heart
20	chr2:127799400-127799800	Enhancers	Fetal Kidney	kidney
21	chr2:127799400-127801400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:127799400-127804800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:127799600-127801800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:127799600-127803800	Weak transcription	Right Ventricle	heart
25	chr2:127799600-127805800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:127799600-127805800	Weak transcription	Gastric	stomach
27	chr2:127799600-127806200	Weak transcription	Brain Angular Gyrus	brain
28	chr2:127799800-127800600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:127799800-127801200	Weak transcription	Fetal Kidney	kidney
30	chr2:127800000-127807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:127800200-127807400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:127800400-127800600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:127800400-127802000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:127800600-127801400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:127800600-127801400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:127801200-127801400	Enhancers	Esophagus	oesophagus
37	chr2:127801200-127801400	Enhancers	Fetal Lung	lung
38	chr2:127801200-127801400	Weak transcription	Pancreas	Pancrea
39	chr2:127801200-127801600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:127801200-127802400	ZNF genes & repeats	Fetal Kidney	kidney
41	chr2:127801200-127806000	Weak transcription	NHLF	lung
42	chr2:127801400-127801600	ZNF genes & repeats	Fetal Heart	heart
43	chr2:127801400-127801600	Flanking Active TSS	Fetal Lung	lung
44	chr2:127801400-127801800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:127801400-127801800	ZNF genes & repeats	Pancreas	Pancrea
46	chr2:127801400-127801800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:127801400-127802200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
48	chr2:127801400-127803400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:127801600-127801800	Enhancers	Spleen	Spleen
50	chr2:127801600-127802200	Active TSS	Fetal Lung	lung

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