Variant report

Variant	esv3373657
Chromosome Location	chr2:127446007-127449972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127448304..127450684-chr2:127460998..127463238,2	K562	blood:
2	chr2:127437217..127440041-chr2:127447833..127449448,2	K562	blood:
3	chr2:127430249..127432742-chr2:127444629..127446893,2	K562	blood:

Extended variants
information (count: 224 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537001915	chr2:127446019-127446020	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576744252	chr2:127446022-127446023	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113659425	chr2:127446037-127446038	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193242120	chr2:127446068-127446069	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183907204	chr2:127446074-127446075	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537785497	chr2:127446125-127446126	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554828213	chr2:127446128-127446129	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113005648	chr2:127446144-127446145	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556940414	chr2:127446155-127446156	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192940069	chr2:127446159-127446160	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185428199	chr2:127446166-127446167	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547003325	chr2:127446184-127446185	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371591673	chr2:127446212-127446213	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28387194	chr2:127446213-127446214	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2018638	chr2:127446220-127446221	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138277606	chr2:127446251-127446252	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536332796	chr2:127446265-127446266	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143872381	chr2:127446269-127446270	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28387195	chr2:127446275-127446276	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28387196	chr2:127446289-127446290	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386650141	chr2:127446293-127446294	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28387198	chr2:127446294-127446295	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115430277	chr2:127446340-127446341	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556339020	chr2:127446383-127446384	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183751263	chr2:127446393-127446394	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28387199	chr2:127446415-127446416	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373529827	chr2:127446416-127446417	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34336111	chr2:127446433-127446434	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572180501	chr2:127446435-127446436	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138756751	chr2:127446438-127446439	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577058846	chr2:127446467-127446468	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552823284	chr2:127446482-127446483	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs935019	chr2:127446489-127446490	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs938736	chr2:127446508-127446509	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs893801	chr2:127446509-127446510	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs893797	chr2:127446510-127446511	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71393823	chr2:127446528-127446529	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs28647563	chr2:127446529-127446530	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188317144	chr2:127446541-127446542	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182201403	chr2:127446546-127446547	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544598551	chr2:127446550-127446551	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548249053	chr2:127446566-127446567	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568576778	chr2:127446582-127446583	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534359770	chr2:127446603-127446604	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547775414	chr2:127446609-127446610	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571119460	chr2:127446619-127446620	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187302981	chr2:127446629-127446630	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561211072	chr2:127446654-127446655	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs893792	chr2:127446659-127446660	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544843726	chr2:127446670-127446671	Weak transcription Enhancers ZNF genes & repeats Strong transcription	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
Prostate cancer	22341455	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
2	chr2:127424200-127451000	Weak transcription	NHLF	lung
3	chr2:127424600-127447600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:127428000-127446400	Weak transcription	NHDF-Ad	bronchial
5	chr2:127433600-127451400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:127433800-127452600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:127434000-127446200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:127434000-127451000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:127434000-127451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:127434800-127453000	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:127434800-127453200	Weak transcription	Placenta	Placenta
13	chr2:127435200-127457400	Weak transcription	Fetal Kidney	kidney
14	chr2:127435400-127452800	Weak transcription	Fetal Intestine Large	intestine
15	chr2:127439000-127447600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:127439800-127457600	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:127440400-127447400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:127440400-127451200	Weak transcription	Esophagus	oesophagus
19	chr2:127440600-127447400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:127441000-127446200	Weak transcription	HSMMtube	muscle
21	chr2:127441200-127446800	Strong transcription	K562	blood
22	chr2:127442000-127447800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:127442000-127456800	Weak transcription	Osteobl	bone
24	chr2:127442400-127447600	Weak transcription	Aorta	Aorta
25	chr2:127443400-127446800	Enhancers	Left Ventricle	heart
26	chr2:127443400-127452600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:127443600-127447600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:127443600-127458800	Strong transcription	Primary T cells from cord blood	blood
29	chr2:127443800-127446400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:127443800-127447600	Weak transcription	Fetal Lung	lung
31	chr2:127443800-127447800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:127443800-127448800	Weak transcription	Thymus	Thymus
33	chr2:127444000-127446800	Enhancers	Psoas Muscle	Psoas
34	chr2:127444000-127446800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:127444000-127447000	Enhancers	Right Ventricle	heart
36	chr2:127444000-127447400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:127444000-127447400	Weak transcription	Ovary	ovary
38	chr2:127444000-127447600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:127444000-127448800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:127444000-127456400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:127444000-127458200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:127444200-127446800	Enhancers	Fetal Muscle Leg	muscle
43	chr2:127444200-127447600	Weak transcription	Spleen	Spleen
44	chr2:127444200-127451400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:127444400-127446800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:127444400-127447000	Enhancers	Adipose Nuclei	Adipose
47	chr2:127444400-127447400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:127444400-127447600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:127444400-127447600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:127444400-127449800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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