Variant report

Variant	esv3529164
Chromosome Location	chr2:127729086-127729400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127643515..127644193-chr2:127729132..127729892,3	MCF-7	breast:
2	chr2:126503200..126503743-chr2:127729269..127730019,3	MCF-7	breast:
3	chr2:127728843..127730664-chr2:127736005..127737630,2	MCF-7	breast:
4	chr17:42421751..42423895-chr2:127728596..127731576,2	MCF-7	breast:
5	chr2:127285363..127286223-chr2:127729309..127730212,5	MCF-7	breast:
6	chr2:127534693..127535651-chr2:127729199..127730146,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000030582	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569558471	chr2:127729109-127729110	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1543037	chr2:127729120-127729121	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs549023099	chr2:127729148-127729149	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565839552	chr2:127729150-127729151	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575991584	chr2:127729252-127729253	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs67573203	chr2:127729264-127729265	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs55695507	chr2:127729266-127729267	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs55857211	chr2:127729269-127729270	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs55798494	chr2:127729299-127729300	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs56306254	chr2:127729300-127729301	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs55715934	chr2:127729301-127729302	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs56000977	chr2:127729307-127729308	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533309610	chr2:127729318-127729319	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs56129037	chr2:127729326-127729327	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542472061	chr2:127729329-127729330	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs58089535	chr2:127729332-127729333	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs56234552	chr2:127729333-127729334	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs57272281	chr2:127729334-127729335	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111298538	chr2:127729339-127729340	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs55900689	chr2:127729342-127729343	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs57923595	chr2:127729343-127729344	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs60687533	chr2:127729346-127729347	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs56086835	chr2:127729350-127729351	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73952788	chr2:127729360-127729361	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541636591	chr2:127729365-127729366	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs55962144	chr2:127729366-127729367	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577767698	chr2:127729371-127729372	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs57275774	chr2:127729381-127729382	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181201802	chr2:127729382-127729383	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127727400-127729200	Enhancers	HSMMtube	muscle
2	chr2:127727800-127729400	Bivalent Enhancer	Fetal Stomach	stomach
3	chr2:127727800-127730600	Enhancers	Fetal Brain Male	brain
4	chr2:127728200-127729200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:127728200-127729400	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr2:127728200-127730200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:127728200-127730200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:127728400-127729200	Bivalent Enhancer	Fetal Intestine Small	intestine
9	chr2:127728400-127729200	Bivalent Enhancer	Placenta	Placenta
10	chr2:127728400-127729400	Weak transcription	Fetal Brain Female	brain
11	chr2:127728600-127729200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
12	chr2:127728600-127729400	Enhancers	Colon Smooth Muscle	Colon
13	chr2:127728600-127729400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr2:127728800-127729200	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr2:127728800-127729400	Active TSS	Liver	Liver
16	chr2:127728800-127729400	Active TSS	Brain Substantia Nigra	brain
17	chr2:127728800-127729600	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr2:127728800-127729800	Active TSS	Brain Angular Gyrus	brain
19	chr2:127728800-127729800	Active TSS	Brain Cingulate Gyrus	brain
20	chr2:127728800-127730000	Enhancers	Lung	lung
21	chr2:127728800-127730000	Enhancers	Spleen	Spleen
22	chr2:127728800-127730200	Active TSS	Brain Anterior Caudate	brain
23	chr2:127729000-127729200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:127729000-127729200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr2:127729000-127729200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr2:127729000-127729200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr2:127729000-127729200	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
28	chr2:127729000-127729200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:127729000-127729200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:127729000-127729200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:127729000-127729200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:127729000-127729200	Enhancers	Adipose Nuclei	Adipose
33	chr2:127729000-127729200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:127729000-127729200	Active TSS	Colonic Mucosa	Colon
35	chr2:127729000-127729200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr2:127729000-127729200	Flanking Active TSS	Esophagus	oesophagus
37	chr2:127729000-127729200	Enhancers	Ovary	ovary
38	chr2:127729000-127729200	Flanking Active TSS	Right Ventricle	heart
39	chr2:127729000-127729200	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr2:127729000-127729200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr2:127729000-127729400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:127729000-127729400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:127729000-127729400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:127729000-127729400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr2:127729000-127729400	Bivalent/Poised TSS	HSMM	muscle
46	chr2:127729000-127729600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:127729000-127729600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr2:127729000-127729600	Bivalent/Poised TSS	A549	lung
49	chr2:127729000-127729800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:127729000-127729800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood

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