Variant report

Variant	esv3377291
Chromosome Location	chr2:128077236-128083877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:128081908..128082904-chr2:128173401..128174161,4	K562	blood:
2	chr2:128081925..128082881-chr2:128236509..128237545,4	K562	blood:
3	chr2:128080706..128082331-chr2:128236038..128238787,2	K562	blood:
4	chr2:128081920..128082830-chr2:128210667..128211822,4	K562	blood:
5	chr2:128077089..128079022-chr2:128080027..128081851,2	MCF-7	breast:
6	chr2:128081990..128082927-chr2:128236340..128237420,5	MCF-7	breast:
7	chr2:128038007..128040599-chr2:128076741..128078946,2	K562	blood:
8	chr2:128082013..128082848-chr2:128236646..128237511,2	MCF-7	breast:
9	chr2:128082160..128083806-chr2:128210715..128211781,9	MCF-7	breast:
10	chr2:128077089..128079022-chr2:128080027..128081851,2	MCF-7	breast:
11	chr2:128082404..128085126-chr2:128090026..128092867,2	MCF-7	breast:
12	chr2:128081799..128083189-chr2:128210681..128212115,13	MCF-7	breast:

No data

Extended variants
information (count: 273 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112748552	chr2:128077242-128077243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs57472022	chr2:128077251-128077252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58795029	chr2:128077252-128077253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200602763	chr2:128077255-128077256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13001005	chr2:128077256-128077257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374824035	chr2:128077261-128077262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13001008	chr2:128077262-128077263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186254939	chr2:128077291-128077292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145603939	chr2:128077320-128077321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559586908	chr2:128077350-128077351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571904091	chr2:128077356-128077357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59283013	chr2:128077372-128077373	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs13025378	chr2:128077396-128077397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564590635	chr2:128077455-128077456	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs140738118	chr2:128077456-128077457	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs550229924	chr2:128077461-128077462	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs13001445	chr2:128077482-128077483	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs563580533	chr2:128077516-128077517	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs529281035	chr2:128077551-128077552	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs150084357	chr2:128077574-128077575	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs190843588	chr2:128077599-128077600	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs534910145	chr2:128077621-128077622	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs183393825	chr2:128077636-128077637	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs571492134	chr2:128077643-128077644	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs78253244	chr2:128077656-128077657	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs370323412	chr2:128077740-128077741	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs557014494	chr2:128077769-128077770	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs187844684	chr2:128077792-128077793	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs536202404	chr2:128077800-128077801	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138478964	chr2:128077832-128077833	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573144524	chr2:128077859-128077860	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545236957	chr2:128077864-128077865	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149264379	chr2:128077885-128077886	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575510006	chr2:128077911-128077912	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190364203	chr2:128077963-128077964	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72845973	chr2:128077984-128077985	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563763465	chr2:128077994-128077995	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529275037	chr2:128077996-128077997	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542981331	chr2:128078003-128078004	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559636270	chr2:128078011-128078012	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528794882	chr2:128078082-128078083	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551635327	chr2:128078166-128078167	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569115416	chr2:128078191-128078192	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556677537	chr2:128078224-128078225	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530998564	chr2:128078254-128078255	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550412112	chr2:128078283-128078284	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147300485	chr2:128078284-128078285	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374284779	chr2:128078298-128078299	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535887855	chr2:128078302-128078303	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114615567	chr2:128078310-128078311	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Prostate cancer	22341455	CNVD

Chromatin state (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128058600-128085600	Strong transcription	Primary B cells from cord blood	blood
2	chr2:128059400-128082800	Strong transcription	Liver	Liver
3	chr2:128059400-128109600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:128059800-128093000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:128061200-128077600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:128061600-128098200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:128061800-128096800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:128062000-128077600	Strong transcription	Fetal Intestine Large	intestine
9	chr2:128062000-128077800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:128062000-128083200	Strong transcription	Primary T cells from cord blood	blood
11	chr2:128062000-128085000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr2:128062000-128086600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:128062400-128094000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr2:128062600-128077600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:128062600-128077800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:128062600-128077800	Strong transcription	Dnd41	blood
17	chr2:128062600-128078000	Strong transcription	Fetal Thymus	thymus
18	chr2:128062600-128083400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr2:128062600-128083400	Strong transcription	Thymus	Thymus
20	chr2:128062600-128089400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:128062800-128077800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:128062800-128098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:128063000-128077400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:128063000-128078400	Strong transcription	Adipose Nuclei	Adipose
25	chr2:128063000-128080200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:128063000-128089200	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:128063200-128080200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:128063400-128077800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:128063400-128077800	Strong transcription	Fetal Lung	lung
30	chr2:128063400-128084800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:128063400-128098400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:128063600-128078000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:128063600-128081200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:128063600-128083400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:128063600-128091800	Strong transcription	Placenta	Placenta
36	chr2:128063800-128077800	Strong transcription	Fetal Muscle Leg	muscle
37	chr2:128063800-128081400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:128063800-128083400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:128064200-128083800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:128064200-128090000	Weak transcription	Psoas Muscle	Psoas
41	chr2:128064600-128078000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:128064800-128077400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:128065000-128100200	Weak transcription	Stomach Mucosa	stomach
44	chr2:128065200-128077800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:128066400-128090600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr2:128067400-128080000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:128067600-128077800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:128068200-128092200	Weak transcription	Pancreas	Pancrea
49	chr2:128069000-128117000	Weak transcription	Small Intestine	intestine
50	chr2:128069600-128079000	Strong transcription	HepG2	liver

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