Variant report

Variant	esv3391059
Chromosome Location	chr2:96627325-96629923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201271000	chr2:96627364-96627365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534751419	chr2:96627368-96627369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199549304	chr2:96627383-96627384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551187733	chr2:96627397-96627398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551559494	chr2:96627401-96627402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528458374	chr2:96627413-96627414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571482151	chr2:96627430-96627431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374702330	chr2:96627431-96627432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367816963	chr2:96627436-96627437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372273115	chr2:96627482-96627483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376845866	chr2:96627487-96627488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529794987	chr2:96627494-96627495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200546329	chr2:96627521-96627522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138648641	chr2:96627525-96627526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188741570	chr2:96627632-96627633	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181169171	chr2:96627644-96627645	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200504864	chr2:96627677-96627678	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201610854	chr2:96627682-96627683	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184470102	chr2:96627692-96627693	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72492198	chr2:96627697-96627698	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373900385	chr2:96627724-96627725	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566462568	chr2:96627744-96627745	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370534457	chr2:96627748-96627749	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373410213	chr2:96627750-96627751	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377419945	chr2:96627758-96627759	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368419551	chr2:96627775-96627776	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189406741	chr2:96627784-96627785	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201645210	chr2:96627800-96627801	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs72492199	chr2:96627827-96627828	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs557619585	chr2:96627835-96627836	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs370412727	chr2:96627847-96627848	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs569579200	chr2:96627854-96627855	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs75990548	chr2:96627877-96627878	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs77302354	chr2:96627881-96627882	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs80183720	chr2:96627906-96627907	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs202115103	chr2:96627909-96627910	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs535429851	chr2:96627911-96627912	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs78301520	chr2:96627942-96627943	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs116292556	chr2:96627949-96627950	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs117426905	chr2:96627959-96627960	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs75281835	chr2:96627980-96627981	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201690502	chr2:96628022-96628023	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs184132024	chr2:96628028-96628029	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs533731463	chr2:96628043-96628044	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs369897247	chr2:96628081-96628082	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs80352866	chr2:96628110-96628111	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs572181859	chr2:96628144-96628145	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs185721953	chr2:96628177-96628178	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs369694049	chr2:96628205-96628206	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs372016738	chr2:96628214-96628215	Strong transcription Weak transcription ZNF genes & repeats	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:96556400-96628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:96556400-96645000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:96574200-96629600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:96574600-96627600	Weak transcription	HSMM	muscle
7	chr2:96577800-96647800	Weak transcription	NHDF-Ad	bronchial
8	chr2:96577800-96651000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:96577800-96656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:96578000-96645000	Weak transcription	NH-A	brain
11	chr2:96582800-96656400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:96585200-96649000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:96585600-96627400	Weak transcription	Left Ventricle	heart
14	chr2:96586000-96657200	Weak transcription	Ovary	ovary
15	chr2:96587800-96656600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:96588200-96649000	Weak transcription	Fetal Intestine Large	intestine
17	chr2:96589000-96631200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:96589000-96645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:96593600-96645000	Weak transcription	Adipose Nuclei	Adipose
20	chr2:96600600-96657200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:96600800-96645000	Weak transcription	Primary T cells from cord blood	blood
22	chr2:96605400-96644800	Weak transcription	Brain Anterior Caudate	brain
23	chr2:96605600-96655000	Weak transcription	HUVEC	blood vessel
24	chr2:96606000-96635000	Weak transcription	Fetal Intestine Small	intestine
25	chr2:96606400-96657200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:96607400-96644600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:96607400-96657200	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:96608400-96635000	Weak transcription	Thymus	Thymus
29	chr2:96610600-96645000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:96610800-96629000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:96611000-96656600	Weak transcription	Osteobl	bone
32	chr2:96611400-96657200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:96614400-96655800	Weak transcription	K562	blood
34	chr2:96615000-96627400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:96615200-96650000	Weak transcription	Brain Substantia Nigra	brain
36	chr2:96616400-96627800	Weak transcription	HMEC	breast
37	chr2:96616400-96627800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr2:96616400-96643200	Weak transcription	Fetal Lung	lung
39	chr2:96616600-96645400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:96616800-96657200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:96617000-96627400	Weak transcription	Fetal Brain Female	brain
42	chr2:96617000-96627600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:96617000-96656600	Weak transcription	Fetal Stomach	stomach
44	chr2:96617000-96656800	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:96617200-96627800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:96617200-96629400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:96617200-96656800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:96617800-96627800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:96617800-96630200	Weak transcription	Fetal Brain Male	brain
50	chr2:96617800-96645000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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