Variant report

Variant	esv3459356
Chromosome Location	chr2:233668356-233668684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12990291	chr2:233668387-233668388	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs79385759	chr2:233668388-233668389	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs375616479	chr2:233668393-233668394	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs200170338	chr2:233668397-233668398	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs13396169	chr2:233668445-233668446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13396304	chr2:233668546-233668547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541940422	chr2:233668649-233668650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537223391	chr2:233668652-233668653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376811954	chr2:233668671-233668672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370665144	chr2:233668673-233668674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373891165	chr2:233668675-233668676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368055819	chr2:233668676-233668677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233649000-233680600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:233655600-233689200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:233656600-233671200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:233656800-233674000	Weak transcription	Fetal Heart	heart
5	chr2:233658000-233671200	Weak transcription	NHLF	lung
6	chr2:233658400-233671200	Weak transcription	Gastric	stomach
7	chr2:233658800-233671200	Weak transcription	Small Intestine	intestine
8	chr2:233659000-233671200	Weak transcription	Fetal Brain Male	brain
9	chr2:233659600-233671200	Weak transcription	Pancreas	Pancrea
10	chr2:233659600-233671600	Weak transcription	Spleen	Spleen
11	chr2:233659800-233671200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:233659800-233672400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:233660800-233688600	Weak transcription	Psoas Muscle	Psoas
14	chr2:233661000-233670200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:233661200-233671000	Weak transcription	NHDF-Ad	bronchial
16	chr2:233661200-233671200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:233661400-233671200	Weak transcription	Right Ventricle	heart
18	chr2:233661800-233670800	Weak transcription	Colonic Mucosa	Colon
19	chr2:233661800-233671000	Weak transcription	NHEK	skin
20	chr2:233661800-233671200	Weak transcription	Aorta	Aorta
21	chr2:233661800-233671200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:233662200-233670800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:233662200-233671200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:233662200-233671200	Weak transcription	HSMMtube	muscle
25	chr2:233662200-233671200	Weak transcription	NH-A	brain
26	chr2:233662200-233671400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:233662200-233671400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:233662400-233670200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:233662400-233671200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:233662400-233671200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:233662400-233671200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:233662400-233671200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:233662400-233672400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:233662400-233672600	Weak transcription	K562	blood
35	chr2:233662600-233671200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:233662600-233679800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:233662800-233670800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:233663000-233671000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:233663200-233671200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:233663400-233669600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:233663400-233670200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:233663400-233670800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:233663400-233671200	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:233663400-233671200	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:233664600-233671200	Weak transcription	Adipose Nuclei	Adipose
46	chr2:233665000-233672200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:233665000-233692600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:233665200-233670200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:233665200-233671400	Weak transcription	HMEC	breast
50	chr2:233665200-233671400	Weak transcription	HUVEC	blood vessel

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