Variant report

Variant	esv1808561
Chromosome Location	chr2:112896573-112898163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112896674..112899558-chr2:113471538..113473155,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377673915	chr2:112896645-112896646	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543057764	chr2:112896719-112896720	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371191731	chr2:112896728-112896729	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556866611	chr2:112896739-112896740	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577032467	chr2:112896742-112896743	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186497152	chr2:112896793-112896794	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560020050	chr2:112896815-112896816	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs528695730	chr2:112896824-112896825	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs111214997	chr2:112896838-112896839	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs376981859	chr2:112896842-112896843	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs36228464	chr2:112896865-112896866	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs74182854	chr2:112896892-112896893	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs373752535	chr2:112896946-112896947	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs367924941	chr2:112897012-112897013	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542551902	chr2:112897035-112897036	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56242356	chr2:112897037-112897038	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537394233	chr2:112897039-112897040	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371736721	chr2:112897055-112897056	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374228484	chr2:112897108-112897109	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368472768	chr2:112897166-112897167	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201480491	chr2:112897188-112897189	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372278812	chr2:112897190-112897191	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376625365	chr2:112897243-112897244	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369900702	chr2:112897309-112897310	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550720218	chr2:112897324-112897325	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371709488	chr2:112897328-112897329	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376614421	chr2:112897349-112897350	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369139509	chr2:112897352-112897353	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373895626	chr2:112897355-112897356	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570478548	chr2:112897363-112897364	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377644398	chr2:112897382-112897383	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369911353	chr2:112897409-112897410	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533284627	chr2:112897443-112897444	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546666426	chr2:112897495-112897496	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111162576	chr2:112897506-112897507	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377454288	chr2:112897533-112897534	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534508092	chr2:112897534-112897535	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371147175	chr2:112897539-112897540	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554706033	chr2:112897546-112897547	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373689432	chr2:112897557-112897558	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375764531	chr2:112897560-112897561	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536066845	chr2:112897562-112897563	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552716494	chr2:112897566-112897567	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568265365	chr2:112897584-112897585	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370448758	chr2:112897589-112897590	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545149803	chr2:112897593-112897594	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558957776	chr2:112897602-112897603	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374119419	chr2:112897614-112897615	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575557860	chr2:112897616-112897617	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544548140	chr2:112897620-112897621	Bivalent/Poised TSS Active TSS Enhancers 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:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112895200-112896600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
2	chr2:112895200-112897000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:112895200-112898200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:112895400-112896600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:112895400-112896600	Active TSS	Brain Anterior Caudate	brain
6	chr2:112895400-112896600	Active TSS	Right Atrium	heart
7	chr2:112895400-112896600	Active TSS	HSMM	muscle
8	chr2:112895400-112897000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr2:112895400-112898600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr2:112895400-112898600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:112895600-112896600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:112895600-112896600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:112895600-112896600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:112895600-112896800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr2:112895600-112896800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:112895600-112896800	Active TSS	Psoas Muscle	Psoas
17	chr2:112895600-112898600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr2:112895600-112898600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:112895600-112898800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr2:112895800-112896600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:112895800-112896600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:112895800-112896600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:112895800-112896600	Active TSS	Brain Hippocampus Middle	brain
24	chr2:112895800-112896600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr2:112895800-112896600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr2:112895800-112896800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:112895800-112896800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:112895800-112896800	Active TSS	Brain Angular Gyrus	brain
29	chr2:112895800-112896800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:112895800-112896800	Active TSS	Brain Substantia Nigra	brain
31	chr2:112895800-112896800	Active TSS	Esophagus	oesophagus
32	chr2:112895800-112896800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
33	chr2:112895800-112896800	Active TSS	Pancreas	Pancrea
34	chr2:112895800-112896800	Active TSS	A549	lung
35	chr2:112895800-112896800	Active TSS	HepG2	liver
36	chr2:112895800-112896800	Active TSS	NHDF-Ad	bronchial
37	chr2:112895800-112896800	Active TSS	NHLF	lung
38	chr2:112895800-112897000	Bivalent/Poised TSS	Fetal Stomach	stomach
39	chr2:112895800-112897600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:112895800-112897800	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr2:112895800-112897800	Active TSS	Fetal Muscle Leg	muscle
42	chr2:112895800-112897800	Active TSS	Placenta	Placenta
43	chr2:112895800-112898200	Active TSS	Osteobl	bone
44	chr2:112895800-112898400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr2:112895800-112898400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:112895800-112898400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:112895800-112898600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr2:112895800-112898600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
49	chr2:112895800-112898600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:112896000-112896600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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