Variant report

Variant	nsv819851
Chromosome Location	chr2:32526553-32529991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32515485..32518593-chr2:32527074..32529766,3	K562	blood:
2	chr2:32524160..32527901-chr2:32528455..32530966,3	K562	blood:
3	chr2:32489371..32491276-chr2:32526459..32528008,2	K562	blood:
4	chr2:32501932..32504425-chr2:32527241..32529254,2	K562	blood:

Variant related genes	Relation type
ENSG00000091106	chromatin interactions
ENSG00000119820	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201611769	chr2:32526559-32526560	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188941714	chr2:32526560-32526561	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200225743	chr2:32526566-32526567	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369474084	chr2:32526580-32526581	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375754833	chr2:32526591-32526592	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369003376	chr2:32526606-32526607	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369778642	chr2:32526610-32526611	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs193099579	chr2:32526656-32526657	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569663831	chr2:32526668-32526669	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144840111	chr2:32526674-32526675	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs184278522	chr2:32526716-32526717	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572428933	chr2:32526790-32526791	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113885710	chr2:32526800-32526801	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191775691	chr2:32526839-32526840	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574831019	chr2:32526840-32526841	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543921326	chr2:32526846-32526847	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577879352	chr2:32526862-32526863	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563517143	chr2:32526870-32526871	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572001834	chr2:32526897-32526898	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111641265	chr2:32526898-32526899	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546241390	chr2:32526921-32526922	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565130810	chr2:32526939-32526940	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147919518	chr2:32526965-32526966	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184278858	chr2:32526988-32526989	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567501226	chr2:32527012-32527013	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529735097	chr2:32527022-32527023	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189010575	chr2:32527058-32527059	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569669265	chr2:32527066-32527067	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564816323	chr2:32527088-32527089	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576519346	chr2:32527091-32527092	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538222255	chr2:32527106-32527107	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181502771	chr2:32527122-32527123	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566022667	chr2:32527135-32527136	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535028371	chr2:32527138-32527139	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554719371	chr2:32527139-32527140	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs575011347	chr2:32527144-32527145	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543669816	chr2:32527160-32527161	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368739648	chr2:32527163-32527164	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs538927102	chr2:32527173-32527174	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553993820	chr2:32527179-32527180	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542705241	chr2:32527276-32527277	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572542092	chr2:32527344-32527345	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs142762371	chr2:32527376-32527377	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs60506321	chr2:32527393-32527394	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs559827995	chr2:32527394-32527395	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs185267205	chr2:32527420-32527421	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs561582398	chr2:32527431-32527432	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs573604396	chr2:32527441-32527442	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs190455820	chr2:32527494-32527495	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs554310157	chr2:32527589-32527590	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:249 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32504000-32531200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:32504000-32537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:32504000-32540200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:32504000-32549400	Weak transcription	HSMMtube	muscle
5	chr2:32504800-32537600	Weak transcription	Fetal Brain Male	brain
6	chr2:32507600-32528000	Weak transcription	GM12878-XiMat	blood
7	chr2:32507800-32550000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:32508400-32534200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:32510000-32528200	Weak transcription	Esophagus	oesophagus
10	chr2:32510200-32528200	Weak transcription	Pancreas	Pancrea
11	chr2:32510200-32528200	Weak transcription	Right Ventricle	heart
12	chr2:32513600-32527600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:32514000-32528200	Weak transcription	Gastric	stomach
14	chr2:32514000-32531200	Weak transcription	Psoas Muscle	Psoas
15	chr2:32514000-32553000	Weak transcription	Small Intestine	intestine
16	chr2:32514200-32555800	Weak transcription	Colonic Mucosa	Colon
17	chr2:32514800-32541000	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:32515000-32527800	Weak transcription	Hela-S3	cervix
19	chr2:32515000-32528000	Weak transcription	Brain Angular Gyrus	brain
20	chr2:32515000-32528200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:32515000-32533400	Weak transcription	NHLF	lung
22	chr2:32515400-32538800	Weak transcription	NHEK	skin
23	chr2:32515800-32533200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:32516400-32531000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:32516400-32531800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:32517200-32536200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:32517400-32553200	Weak transcription	Stomach Mucosa	stomach
28	chr2:32519200-32533200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:32520000-32529000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:32520000-32529800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:32520200-32526800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:32520200-32528400	Strong transcription	Liver	Liver
33	chr2:32520200-32528800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:32520200-32533000	Strong transcription	Fetal Thymus	thymus
35	chr2:32520200-32533400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:32520200-32537200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr2:32520400-32528000	Weak transcription	Fetal Heart	heart
38	chr2:32520400-32529800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:32520600-32527800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:32520600-32535600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:32520600-32537400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:32520600-32541800	Weak transcription	Brain Substantia Nigra	brain
43	chr2:32520800-32527200	Weak transcription	Aorta	Aorta
44	chr2:32520800-32528000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:32520800-32532800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:32520800-32533400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:32521000-32526800	Weak transcription	Spleen	Spleen
48	chr2:32521000-32527600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:32521000-32527800	Weak transcription	Primary B cells from cord blood	blood
50	chr2:32521000-32532800	Strong transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links