Variant report

Variant	nsv963829
Chromosome Location	chr2:98177214-98187519
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	chr11:65274173..65274684-chr2:98182548..98183048,2	Hela-S3	cervix:

Extended variants
information (count: 534 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377631596	chr2:98177214-98177215	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2442256	chr2:98177217-98177218	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368692757	chr2:98177224-98177225	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369923997	chr2:98177232-98177233	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375216709	chr2:98177266-98177267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368731044	chr2:98177274-98177275	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201940725	chr2:98177285-98177286	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114646833	chr2:98177305-98177306	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112007907	chr2:98177340-98177341	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367775172	chr2:98177346-98177347	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201367102	chr2:98177354-98177355	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563709052	chr2:98177385-98177386	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370406620	chr2:98177399-98177400	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529321392	chr2:98177401-98177402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111253028	chr2:98177418-98177419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549471928	chr2:98177437-98177438	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200838521	chr2:98177506-98177507	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112849946	chr2:98177529-98177530	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75083119	chr2:98177553-98177554	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111897345	chr2:98177572-98177573	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559799095	chr2:98177575-98177576	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71429358	chr2:98177579-98177580	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112324987	chr2:98177585-98177586	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527454933	chr2:98177604-98177605	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76982668	chr2:98177618-98177619	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200941235	chr2:98177648-98177649	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12468249	chr2:98177659-98177660	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570652327	chr2:98177670-98177671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71429359	chr2:98177671-98177672	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539374631	chr2:98177691-98177692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187092846	chr2:98177693-98177694	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13397880	chr2:98177698-98177699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74387652	chr2:98177700-98177701	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71429360	chr2:98177723-98177724	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191142793	chr2:98177731-98177732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71429361	chr2:98177735-98177736	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555131480	chr2:98177741-98177742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71429362	chr2:98177762-98177763	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13397980	chr2:98177795-98177796	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534905027	chr2:98177807-98177808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558360512	chr2:98177811-98177812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373117960	chr2:98177821-98177822	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs578246514	chr2:98177839-98177840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367859395	chr2:98177842-98177843	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544094943	chr2:98177845-98177846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563995082	chr2:98177850-98177851	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574036311	chr2:98177851-98177852	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76002858	chr2:98177874-98177875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77059453	chr2:98177886-98177887	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2595336	chr2:98177897-98177898	Weak transcription Strong transcription Enhancers	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
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
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98140800-98187600	Weak transcription	Fetal Stomach	stomach
2	chr2:98142800-98177800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:98143600-98205600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:98153400-98189800	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:98153600-98178600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:98154200-98185200	Weak transcription	Fetal Kidney	kidney
7	chr2:98154200-98187000	Weak transcription	Left Ventricle	heart
8	chr2:98156200-98205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:98156800-98204200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:98160200-98205800	Weak transcription	K562	blood
11	chr2:98161400-98177400	Weak transcription	Brain Substantia Nigra	brain
12	chr2:98161400-98178400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:98161400-98185800	Weak transcription	NHEK	skin
14	chr2:98164000-98204600	Weak transcription	A549	lung
15	chr2:98164200-98181000	Weak transcription	Hela-S3	cervix
16	chr2:98164400-98179800	Weak transcription	Spleen	Spleen
17	chr2:98164800-98178800	Weak transcription	Right Ventricle	heart
18	chr2:98166000-98191200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:98166400-98181400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:98166400-98190200	Weak transcription	Thymus	Thymus
21	chr2:98166400-98205600	Weak transcription	Brain Germinal Matrix	brain
22	chr2:98167600-98178400	Strong transcription	Dnd41	blood
23	chr2:98168400-98205800	Weak transcription	Fetal Lung	lung
24	chr2:98168400-98205800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:98168600-98196200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:98168600-98206000	Weak transcription	NHDF-Ad	bronchial
27	chr2:98168800-98204000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:98169200-98195400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:98169600-98178600	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:98169600-98189400	Weak transcription	Ovary	ovary
31	chr2:98169600-98205800	Weak transcription	Fetal Intestine Large	intestine
32	chr2:98170000-98181800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:98170400-98178600	Weak transcription	Primary B cells from cord blood	blood
34	chr2:98171400-98178400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:98171600-98180800	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:98171600-98187000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:98171600-98205800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:98171800-98178400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:98172200-98178800	Weak transcription	Brain Angular Gyrus	brain
40	chr2:98172200-98205600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:98172200-98205800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:98172200-98205800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:98172200-98205800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:98172200-98206000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:98172400-98178600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:98172400-98191800	Weak transcription	Fetal Brain Female	brain
47	chr2:98172400-98204200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:98172400-98204600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:98172400-98206000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:98172600-98178600	Weak transcription	Rectal Mucosa Donor 31	rectum

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