Variant report

Variant	esv3369639
Chromosome Location	chr2:127800182-127803580
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
ENSG00000260634	chromatin interactions
ENSG00000260163	chromatin interactions

Extended variants
information (count: 200 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:200 , 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	rs532558595	chr2:127800236-127800237	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs570209170	chr2:127800284-127800285	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs193052970	chr2:127800292-127800293	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs558171373	chr2:127800312-127800313	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs56049505	chr2:127800315-127800316	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs567415248	chr2:127800325-127800326	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs536557364	chr2:127800336-127800337	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs546343494	chr2:127800360-127800361	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs555546275	chr2:127800362-127800363	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs62157849	chr2:127800377-127800378	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs57460572	chr2:127800418-127800419	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534786529	chr2:127800498-127800499	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs557861803	chr2:127800515-127800516	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs116973883	chr2:127800523-127800524	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs370347071	chr2:127800553-127800554	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs557339299	chr2:127800597-127800598	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs112401561	chr2:127800603-127800604	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376983157	chr2:127800634-127800635	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs4662702	chr2:127800705-127800706	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2164873	chr2:127800711-127800712	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs185080805	chr2:127800753-127800754	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs143358344	chr2:127800758-127800759	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs147110498	chr2:127800782-127800783	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs545103901	chr2:127800794-127800795	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs71414733	chr2:127800814-127800815	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs138324130	chr2:127800841-127800842	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs116056123	chr2:127800936-127800937	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs116762099	chr2:127800963-127800964	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs4662703	chr2:127800981-127800982	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs141825675	chr2:127801006-127801007	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546533345	chr2:127801065-127801066	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs566317433	chr2:127801081-127801082	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs150643464	chr2:127801100-127801101	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs374196732	chr2:127801102-127801103	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs74354185	chr2:127801147-127801148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371960960	chr2:127801152-127801153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375408007	chr2:127801159-127801160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557025240	chr2:127801189-127801190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567698323	chr2:127801205-127801206	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs190370183	chr2:127801221-127801222	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs548013025	chr2:127801230-127801231	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs139726971	chr2:127801265-127801266	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs545584913	chr2:127801272-127801273	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs559206431	chr2:127801315-127801316	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs77597227	chr2:127801330-127801331	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544342723	chr2:127801336-127801337	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs115715915	chr2:127801337-127801338	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs529729869	chr2:127801346-127801347	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs562327625	chr2:127801372-127801373	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs540117773	chr2:127801382-127801383	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	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:92 , 50 per page) page: 1 2

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	chr2:127799400-127801400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:127799400-127804800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:127799600-127801800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:127799600-127803800	Weak transcription	Right Ventricle	heart
14	chr2:127799600-127805800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:127799600-127805800	Weak transcription	Gastric	stomach
16	chr2:127799600-127806200	Weak transcription	Brain Angular Gyrus	brain
17	chr2:127799800-127800600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:127799800-127801200	Weak transcription	Fetal Kidney	kidney
19	chr2:127800000-127807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:127800200-127807400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:127800400-127800600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:127800400-127802000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:127800600-127801400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:127800600-127801400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:127801200-127801400	Enhancers	Esophagus	oesophagus
26	chr2:127801200-127801400	Enhancers	Fetal Lung	lung
27	chr2:127801200-127801400	Weak transcription	Pancreas	Pancrea
28	chr2:127801200-127801600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:127801200-127802400	ZNF genes & repeats	Fetal Kidney	kidney
30	chr2:127801200-127806000	Weak transcription	NHLF	lung
31	chr2:127801400-127801600	ZNF genes & repeats	Fetal Heart	heart
32	chr2:127801400-127801600	Flanking Active TSS	Fetal Lung	lung
33	chr2:127801400-127801800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:127801400-127801800	ZNF genes & repeats	Pancreas	Pancrea
35	chr2:127801400-127801800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:127801400-127802200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
37	chr2:127801400-127803400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:127801600-127801800	Enhancers	Spleen	Spleen
39	chr2:127801600-127802200	Active TSS	Fetal Lung	lung
40	chr2:127801600-127803000	Weak transcription	Fetal Heart	heart
41	chr2:127801600-127807600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:127801800-127802000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr2:127801800-127802000	Enhancers	Pancreas	Pancrea
44	chr2:127801800-127802200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:127801800-127802200	Weak transcription	Spleen	Spleen
46	chr2:127801800-127802400	ZNF genes & repeats	Fetal Brain Male	brain
47	chr2:127802000-127803000	Weak transcription	Pancreas	Pancrea
48	chr2:127802000-127804400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:127802000-127818800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:127802200-127802800	Active TSS	Spleen	Spleen

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