Variant report

Variant	nsv430701
Chromosome Location	chr2:36383449-36473032
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36375898..36378508-chr2:36382841..36384658,2	K562	blood:
2	chr2:36426823..36429485-chr2:36432838..36434351,2	MCF-7	breast:
3	chr2:36426823..36429485-chr2:36432838..36434351,2	MCF-7	breast:
4	chr2:36463029..36465414-chr20:47894852..47896594,2	K562	blood:

Variant related genes	Relation type
ENSG00000177410	chromatin interactions
ENSG00000209042	chromatin interactions
ENSG00000124201	chromatin interactions

Extended variants
information (count: 2551 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2551 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183506237	chr2:36387808-36387809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374993096	chr2:36387817-36387818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541400410	chr2:36387855-36387856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368845399	chr2:36387864-36387865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555314403	chr2:36387868-36387869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373328378	chr2:36387930-36387931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189148838	chr2:36387949-36387950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377272923	chr2:36387951-36387952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556114270	chr2:36387991-36387992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368743246	chr2:36388022-36388023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574494282	chr2:36388034-36388035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535536290	chr2:36388052-36388053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533753966	chr2:36388071-36388072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191445596	chr2:36388143-36388144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183713495	chr2:36388162-36388163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545991039	chr2:36388187-36388188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576076794	chr2:36388198-36388199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576277890	chr2:36388207-36388208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555449340	chr2:36388299-36388300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543502439	chr2:36388321-36388322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574337982	chr2:36388327-36388328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538541753	chr2:36388350-36388351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529232351	chr2:36388367-36388368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547501222	chr2:36388378-36388379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187805456	chr2:36388383-36388384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77509367	chr2:36388402-36388403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193011188	chr2:36388411-36388412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143828807	chr2:36388425-36388426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537745803	chr2:36388461-36388462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549363917	chr2:36388484-36388485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183598194	chr2:36388499-36388500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535069298	chr2:36388502-36388503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545302954	chr2:36388522-36388523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553924200	chr2:36388523-36388524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370368372	chr2:36388569-36388570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1167473	chr2:36388575-36388576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148130319	chr2:36388600-36388601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141964194	chr2:36388609-36388610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576112111	chr2:36388622-36388623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543711490	chr2:36388634-36388635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555339448	chr2:36388646-36388647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17018363	chr2:36388672-36388673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs541006026	chr2:36388682-36388683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559453658	chr2:36388703-36388704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17018366	chr2:36388738-36388739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376657768	chr2:36388788-36388789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115197951	chr2:36388823-36388824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371216873	chr2:36388838-36388839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144651447	chr2:36388865-36388866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74641943	chr2:36388887-36388888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	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
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36387800-36388400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:36388400-36390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:36390400-36391400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:36390400-36391400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:36391000-36394400	Enhancers	Liver	Liver
6	chr2:36391200-36391400	Bivalent Enhancer	A549	lung
7	chr2:36391400-36392400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:36391800-36393200	Enhancers	HepG2	liver
9	chr2:36392000-36392800	Enhancers	Fetal Intestine Small	intestine
10	chr2:36392400-36394000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:36393800-36394000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:36394000-36395200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:36395200-36395600	Enhancers	HMEC	breast
14	chr2:36395200-36403400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:36395600-36400200	Weak transcription	HMEC	breast
16	chr2:36397800-36398400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:36397800-36401400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:36398000-36398200	Enhancers	Fetal Kidney	kidney
19	chr2:36398000-36398200	Enhancers	HSMMtube	muscle
20	chr2:36398400-36399400	Weak transcription	Fetal Kidney	kidney
21	chr2:36399200-36400400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:36399400-36401000	Enhancers	Fetal Kidney	kidney
23	chr2:36399400-36401400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:36400000-36400200	Enhancers	Esophagus	oesophagus
25	chr2:36400200-36400800	Weak transcription	Esophagus	oesophagus
26	chr2:36400200-36402000	Enhancers	HMEC	breast
27	chr2:36400400-36401400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:36400600-36401600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:36400800-36401200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:36400800-36401400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:36400800-36401400	Enhancers	Brain Hippocampus Middle	brain
32	chr2:36400800-36401400	Enhancers	Esophagus	oesophagus
33	chr2:36401000-36401400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:36401000-36401400	Enhancers	Pancreas	Pancrea
35	chr2:36401000-36401400	Enhancers	NHEK	skin
36	chr2:36401000-36401600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:36401400-36404400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:36401400-36404600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:36401400-36405000	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:36401400-36405400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:36401600-36402000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:36402000-36402200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:36402000-36404200	Weak transcription	HMEC	breast
44	chr2:36402200-36404400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:36403400-36403800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:36403800-36406400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:36404200-36405600	Enhancers	HMEC	breast
48	chr2:36404400-36405800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:36404400-36406000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:36404600-36404800	Enhancers	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links