Variant report

Variant	esv3350179
Chromosome Location	chr2:96629425-96634323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 191 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376959296	chr2:96629450-96629451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370449172	chr2:96629458-96629459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565036859	chr2:96629511-96629512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10153922	chr2:96629524-96629525	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs377050756	chr2:96629550-96629551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371303799	chr2:96629595-96629596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370383699	chr2:96629645-96629646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369267333	chr2:96629706-96629707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373036345	chr2:96629720-96629721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189459317	chr2:96629724-96629725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13419492	chr2:96629734-96629735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs70964876	chr2:96629753-96629754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202062582	chr2:96629760-96629761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373586908	chr2:96629762-96629763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200824250	chr2:96629763-96629764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201796251	chr2:96629765-96629766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373690916	chr2:96629799-96629800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112264480	chr2:96629832-96629833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368473302	chr2:96629858-96629859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186479879	chr2:96629922-96629923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80168070	chr2:96629940-96629941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551165095	chr2:96629957-96629958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372080384	chr2:96629966-96629967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561277886	chr2:96629976-96629977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200488189	chr2:96629984-96629985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201763733	chr2:96630028-96630029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535282353	chr2:96630030-96630031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368019614	chr2:96630044-96630045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371194803	chr2:96630071-96630072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546961632	chr2:96630083-96630084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372115498	chr2:96630093-96630094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146187672	chr2:96630144-96630145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375566030	chr2:96630146-96630147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201966257	chr2:96630153-96630154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564241574	chr2:96630184-96630185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534595492	chr2:96630185-96630186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72492201	chr2:96630201-96630202	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs191165952	chr2:96630236-96630237	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs369756382	chr2:96630311-96630312	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs572781681	chr2:96630328-96630329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs536699084	chr2:96630344-96630345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs557137875	chr2:96630345-96630346	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201469695	chr2:96630375-96630376	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs573718003	chr2:96630396-96630397	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs139143086	chr2:96630402-96630403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373523645	chr2:96630430-96630431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536586106	chr2:96630457-96630458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71427070	chr2:96630460-96630461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199768282	chr2:96630475-96630476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566098759	chr2:96630488-96630489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Medulloblastoma	20607354	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
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:96556400-96645000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:96574200-96629600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:96577800-96647800	Weak transcription	NHDF-Ad	bronchial
6	chr2:96577800-96651000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:96577800-96656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:96578000-96645000	Weak transcription	NH-A	brain
9	chr2:96582800-96656400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:96585200-96649000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:96586000-96657200	Weak transcription	Ovary	ovary
12	chr2:96587800-96656600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:96588200-96649000	Weak transcription	Fetal Intestine Large	intestine
14	chr2:96589000-96631200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:96589000-96645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:96593600-96645000	Weak transcription	Adipose Nuclei	Adipose
17	chr2:96600600-96657200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:96600800-96645000	Weak transcription	Primary T cells from cord blood	blood
19	chr2:96605400-96644800	Weak transcription	Brain Anterior Caudate	brain
20	chr2:96605600-96655000	Weak transcription	HUVEC	blood vessel
21	chr2:96606000-96635000	Weak transcription	Fetal Intestine Small	intestine
22	chr2:96606400-96657200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:96607400-96644600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:96607400-96657200	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:96608400-96635000	Weak transcription	Thymus	Thymus
26	chr2:96610600-96645000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:96611000-96656600	Weak transcription	Osteobl	bone
28	chr2:96611400-96657200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:96614400-96655800	Weak transcription	K562	blood
30	chr2:96615200-96650000	Weak transcription	Brain Substantia Nigra	brain
31	chr2:96616400-96643200	Weak transcription	Fetal Lung	lung
32	chr2:96616600-96645400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:96616800-96657200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:96617000-96656600	Weak transcription	Fetal Stomach	stomach
35	chr2:96617000-96656800	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:96617200-96656800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:96617800-96630200	Weak transcription	Fetal Brain Male	brain
38	chr2:96617800-96645000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:96617800-96656600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:96618200-96648000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:96619400-96630000	Weak transcription	GM12878-XiMat	blood
42	chr2:96620600-96645400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:96621400-96645200	Weak transcription	Liver	Liver
44	chr2:96621600-96638800	Weak transcription	Small Intestine	intestine
45	chr2:96621800-96657200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:96622000-96635600	Weak transcription	Brain Angular Gyrus	brain
47	chr2:96622600-96645000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:96623000-96648800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:96623400-96639800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:96624000-96658200	Weak transcription	Placenta Amnion	Placenta Amnion

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