Variant report

Variant	esv1839391
Chromosome Location	chr2:127665641-127704870
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127662850..127664564-chr2:127666506..127668375,2	K562	blood:
2	chr2:127663020..127665879-chr2:127676391..127678881,2	MCF-7	breast:
3	chr2:127663020..127665879-chr2:127676391..127678881,2	MCF-7	breast:

Extended variants
information (count: 1061 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1061 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6737070	chr2:127665641-127665642	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116473381	chr2:127665658-127665659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181620932	chr2:127665667-127665668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543900580	chr2:127665680-127665681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143999576	chr2:127665713-127665714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529278876	chr2:127665718-127665719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74999869	chr2:127665730-127665731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11686315	chr2:127665737-127665738	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528790948	chr2:127665742-127665743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186867136	chr2:127665761-127665762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571530640	chr2:127665842-127665843	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs530478657	chr2:127665872-127665873	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs73956158	chr2:127665892-127665893	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs371812551	chr2:127666010-127666011	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs567293170	chr2:127666012-127666013	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs559951825	chr2:127666044-127666045	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs59692977	chr2:127666077-127666078	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545739999	chr2:127666090-127666091	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs553032372	chr2:127666154-127666155	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs192009719	chr2:127666218-127666219	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs34515070	chr2:127666220-127666221	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs562433738	chr2:127666315-127666316	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs114883872	chr2:127666321-127666322	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs547829041	chr2:127666325-127666326	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs13411741	chr2:127666335-127666336	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs182872249	chr2:127666340-127666341	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs557423906	chr2:127666341-127666342	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs556674650	chr2:127666346-127666347	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs574076269	chr2:127666377-127666378	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs573551027	chr2:127666391-127666392	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs34951896	chr2:127666392-127666393	Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs185877265	chr2:127666401-127666402	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs189801370	chr2:127666409-127666410	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs142841714	chr2:127666476-127666477	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs565298148	chr2:127666477-127666478	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs370972845	chr2:127666489-127666490	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs147429654	chr2:127666491-127666492	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs182328770	chr2:127666502-127666503	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs139494733	chr2:127666520-127666521	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs546586904	chr2:127666544-127666545	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs116230266	chr2:127666568-127666569	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs539231501	chr2:127666586-127666587	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs538893541	chr2:127666604-127666605	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs187700537	chr2:127666608-127666609	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs569103751	chr2:127666611-127666612	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs142501024	chr2:127666615-127666616	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs554500146	chr2:127666616-127666617	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs574042104	chr2:127666645-127666646	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs150963834	chr2:127666659-127666660	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs552904592	chr2:127666667-127666668	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127663800-127665800	Enhancers	Stomach Smooth Muscle	stomach
2	chr2:127664000-127666000	Weak transcription	Fetal Brain Male	brain
3	chr2:127664600-127666200	Weak transcription	Fetal Brain Female	brain
4	chr2:127665000-127669600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:127665400-127667600	Enhancers	Rectal Smooth Muscle	rectum
6	chr2:127665600-127665800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:127665600-127665800	Enhancers	Colon Smooth Muscle	Colon
8	chr2:127665600-127669800	Enhancers	Fetal Stomach	stomach
9	chr2:127665800-127666200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
10	chr2:127665800-127666600	Enhancers	Brain Germinal Matrix	brain
11	chr2:127665800-127666800	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:127666000-127667000	Enhancers	Fetal Brain Male	brain
13	chr2:127666200-127666600	Enhancers	Ovary	ovary
14	chr2:127666200-127666600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
15	chr2:127666200-127667000	Enhancers	Fetal Lung	lung
16	chr2:127666200-127667200	Enhancers	Fetal Brain Female	brain
17	chr2:127666400-127666600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:127666400-127667600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:127666600-127666800	Active TSS	Stomach Smooth Muscle	stomach
20	chr2:127666800-127667000	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr2:127666800-127667600	Enhancers	Colon Smooth Muscle	Colon
22	chr2:127667000-127667600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
23	chr2:127667000-127671600	Weak transcription	Fetal Brain Male	brain
24	chr2:127667200-127672600	Weak transcription	Fetal Brain Female	brain
25	chr2:127668200-127668800	Enhancers	Primary hematopoietic stem cells	blood
26	chr2:127668200-127668800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:127669600-127669800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:127671600-127673000	Enhancers	Fetal Brain Male	brain
29	chr2:127672800-127673000	Enhancers	Fetal Brain Female	brain
30	chr2:127674400-127674600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:127674600-127674800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:127688000-127688400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:127688400-127688600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:127688400-127689200	ZNF genes & repeats	Spleen	Spleen
35	chr2:127688600-127688800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:127688600-127692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:127688800-127689200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:127689200-127692600	Weak transcription	Spleen	Spleen
39	chr2:127690200-127691600	Enhancers	Fetal Kidney	kidney
40	chr2:127690600-127691000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:127690600-127693400	Enhancers	Fetal Muscle Trunk	muscle
42	chr2:127690800-127691000	Enhancers	Colonic Mucosa	Colon
43	chr2:127690800-127691200	Enhancers	Fetal Brain Male	brain
44	chr2:127690800-127691200	Enhancers	Fetal Brain Female	brain
45	chr2:127691200-127692400	Weak transcription	Fetal Brain Male	brain
46	chr2:127692200-127692800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:127692400-127692600	Bivalent Enhancer	HepG2	liver
48	chr2:127692600-127692800	Enhancers	Fetal Brain Male	brain
49	chr2:127692600-127692800	Enhancers	Fetal Muscle Leg	muscle
50	chr2:127692600-127693400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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