Variant report

Variant	esv1851235
Chromosome Location	chr2:112870757-112873748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112811397..112814372-chr2:112868078..112870931,3	K562	blood:
2	chr2:112869211..112870960-chr2:112874200..112876971,2	K562	blood:
3	chr2:112861922..112863771-chr2:112870314..112872058,2	K562	blood:

Variant related genes	Relation type
ENSG00000153214	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367711695	chr2:112870792-112870793	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530593852	chr2:112870862-112870863	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs180714814	chr2:112870865-112870866	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569285033	chr2:112870945-112870946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562493162	chr2:112870978-112870979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369732968	chr2:112870983-112870984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148812260	chr2:112870987-112870988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572345656	chr2:112870992-112870993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114018623	chr2:112871001-112871002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185323633	chr2:112871010-112871011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575045272	chr2:112871082-112871083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544064395	chr2:112871114-112871115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145673418	chr2:112871125-112871126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147736912	chr2:112871194-112871195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532661616	chr2:112871255-112871256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55651706	chr2:112871262-112871263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7575917	chr2:112871288-112871289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77425893	chr2:112871295-112871296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7585137	chr2:112871326-112871327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546357851	chr2:112871345-112871346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35707669	chr2:112871364-112871365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75595764	chr2:112871377-112871378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7576033	chr2:112871402-112871403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13022948	chr2:112871404-112871405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13409777	chr2:112871414-112871415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559881043	chr2:112871433-112871434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34707150	chr2:112871440-112871441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36030757	chr2:112871447-112871448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71414626	chr2:112871478-112871479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71414625	chr2:112871637-112871638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76076467	chr2:112871934-112871935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527507253	chr2:112871980-112871981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77585088	chr2:112872048-112872049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76194906	chr2:112872086-112872087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74782191	chr2:112872238-112872239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78728618	chr2:112872542-112872543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28483658	chr2:112872555-112872556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373503698	chr2:112872610-112872611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375844760	chr2:112872648-112872649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34771351	chr2:112872694-112872695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547258351	chr2:112872732-112872733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71414630	chr2:112872770-112872771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55720610	chr2:112872795-112872796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28663280	chr2:112872808-112872809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28582345	chr2:112872846-112872847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372144978	chr2:112872884-112872885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549620391	chr2:112872886-112872887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113796047	chr2:112872922-112872923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182727178	chr2:112872924-112872925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142559956	chr2:112872957-112872958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112816800-112871400	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr2:112822800-112876800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:112834600-112871200	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr2:112835800-112883200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:112836000-112874400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:112845400-112875200	Weak transcription	Right Ventricle	heart
7	chr2:112851200-112881600	Weak transcription	Stomach Mucosa	stomach
8	chr2:112852000-112871200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:112853200-112871200	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr2:112853200-112871200	Strong transcription	Duodenum Mucosa	Duodenum
11	chr2:112853400-112871200	Strong transcription	Placenta	Placenta
12	chr2:112855400-112871200	Strong transcription	NH-A	brain
13	chr2:112856800-112874200	Weak transcription	Lung	lung
14	chr2:112856800-112875600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:112856800-112881800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:112857000-112883000	Weak transcription	Hela-S3	cervix
17	chr2:112857000-112891200	Weak transcription	Small Intestine	intestine
18	chr2:112857200-112877600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:112859600-112877200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:112860200-112871200	Strong transcription	Osteobl	bone
21	chr2:112863600-112870800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:112863800-112871200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:112864600-112871000	Strong transcription	HSMM	muscle
24	chr2:112865200-112870800	ZNF genes & repeats	GM12878-XiMat	blood
25	chr2:112865400-112871000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:112865400-112871200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:112866200-112879000	Weak transcription	Psoas Muscle	Psoas
28	chr2:112866600-112871600	Weak transcription	Fetal Brain Male	brain
29	chr2:112866800-112871200	Strong transcription	Adipose Nuclei	Adipose
30	chr2:112866800-112871200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr2:112867000-112871200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:112867000-112871200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:112867000-112871200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:112867200-112871200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:112867200-112871200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:112867200-112871200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:112867200-112871200	Strong transcription	HUVEC	blood vessel
38	chr2:112867200-112871200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr2:112867200-112874400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:112867200-112877200	Weak transcription	Brain Substantia Nigra	brain
41	chr2:112867200-112880400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:112867400-112871200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:112867400-112871200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:112867400-112871200	Strong transcription	Primary T cells from cord blood	blood
45	chr2:112867400-112871200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:112867600-112871200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:112867600-112871200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr2:112867600-112871200	Strong transcription	Ovary	ovary
49	chr2:112867600-112882600	Weak transcription	Fetal Stomach	stomach
50	chr2:112867800-112871000	Strong transcription	Primary B cells from peripheral blood	blood

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