Variant report

Variant	nsv430668
Chromosome Location	chr2:34750545-34868864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:33906151..33906814-chr2:34795262..34796206,5	MCF-7	breast:
2	chr2:34321381..34322557-chr2:34795669..34796275,5	MCF-7	breast:
3	chr17:76778253..76778888-chr2:34769758..34770277,2	MCF-7	breast:
4	chr2:34237506..34238447-chr2:34795265..34796658,5	MCF-7	breast:
5	chr2:34795663..34796225-chr8:85142407..85143298,2	MCF-7	breast:
6	chr2:34321239..34322372-chr2:34772370..34773083,4	MCF-7	breast:
7	chr2:34237681..34238401-chr2:34795339..34796232,5	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM98A-7	chr2:34823138-34823205	NONHSAT070038
2	lnc-FAM98A-7	chr2:34787656-34787849	NONHSAT070038
3	lnc-RASGRP3-14	chr2:34800570-34801134	NONHSAT070037
4	lnc-RASGRP3-3	chr2:34860316-34860407	ENSG00000226785
5	lnc-RASGRP3-14	chr2:34815892-34816802	NONHSAT070039
6	lnc-RASGRP3-14	chr2:34792147-34792344	l_1807_chr2:34789043-34803561_liver
7	lnc-RASGRP3-14	chr2:34800570-34803561	l_1807_chr2:34789043-34803561_liver
8	lnc-RASGRP3-14	chr2:34756150-34756498	NONHSAT070037
9	lnc-RASGRP3-14	chr2:34792161-34792344	NONHSAT070039
10	lnc-RASGRP3-14	chr2:34811019-34811128	NONHSAT070039
11	lnc-RASGRP3-14	chr2:34815937-34816109	l_1807_chr2:34789043-34803561_liver
12	lnc-RASGRP3-14	chr2:34792150-34792344	NONHSAT070037
13	lnc-RASGRP3-14	chr2:34789044-34789084	l_1807_chr2:34789043-34803561_liver

No data

Variant related genes	Relation type
ENSG00000108669	chromatin interactions

Extended variants
information (count: 901 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:901 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540271595	chr2:34752209-34752210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190019874	chr2:34752237-34752238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568303926	chr2:34752244-34752245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200176497	chr2:34752287-34752288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143714421	chr2:34752293-34752294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151023784	chr2:34752294-34752295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183039824	chr2:34752317-34752318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188610736	chr2:34752329-34752330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531552158	chr2:34752345-34752346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551560390	chr2:34752372-34752373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550633141	chr2:34752438-34752439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571452380	chr2:34752451-34752452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140933435	chr2:34752463-34752464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576894944	chr2:34752487-34752488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555590693	chr2:34752491-34752492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547363662	chr2:34752536-34752537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111420778	chr2:34752580-34752581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77023883	chr2:34752582-34752583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75828331	chr2:34752608-34752609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575697916	chr2:34752615-34752616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146447319	chr2:34752701-34752702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374691782	chr2:34752704-34752705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558284356	chr2:34752806-34752807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578108317	chr2:34752849-34752850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540955618	chr2:34752892-34752893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58297519	chr2:34752947-34752948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373235914	chr2:34752949-34752950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560601187	chr2:34752953-34752954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574103727	chr2:34752985-34752986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543008810	chr2:34752990-34752991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184055632	chr2:34753108-34753109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531790917	chr2:34753182-34753183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75925891	chr2:34753199-34753200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368080848	chr2:34753223-34753224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527481757	chr2:34753228-34753229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547700614	chr2:34753230-34753231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575067074	chr2:34753283-34753284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545510711	chr2:34753289-34753290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73928738	chr2:34753310-34753311	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs535863500	chr2:34753311-34753312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549326523	chr2:34753332-34753333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114188811	chr2:34753334-34753335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538394030	chr2:34753359-34753360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114956017	chr2:34753382-34753383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7340483	chr2:34753390-34753391	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs62161902	chr2:34753398-34753399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531360688	chr2:34753468-34753469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574342227	chr2:34753537-34753538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188647230	chr2:34753549-34753550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191569717	chr2:34753554-34753555	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34752200-34752400	Enhancers	Fetal Kidney	kidney
2	chr2:34752400-34753200	Weak transcription	Fetal Kidney	kidney
3	chr2:34752800-34753200	Enhancers	Fetal Intestine Large	intestine
4	chr2:34753200-34753600	Enhancers	Fetal Intestine Small	intestine
5	chr2:34753200-34753600	Enhancers	Fetal Kidney	kidney
6	chr2:34753400-34753800	Enhancers	Fetal Intestine Large	intestine
7	chr2:34753600-34758800	Weak transcription	Fetal Kidney	kidney
8	chr2:34753600-34759000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:34758800-34759200	Enhancers	Fetal Kidney	kidney
10	chr2:34758800-34760600	Enhancers	Fetal Lung	lung
11	chr2:34759000-34760600	Enhancers	Fetal Intestine Small	intestine
12	chr2:34759200-34759400	Weak transcription	Fetal Kidney	kidney
13	chr2:34759200-34761400	Enhancers	Fetal Intestine Large	intestine
14	chr2:34759400-34759800	Enhancers	Fetal Kidney	kidney
15	chr2:34761200-34761600	Enhancers	Pancreas	Pancrea
16	chr2:34770400-34771000	Enhancers	Fetal Muscle Trunk	muscle
17	chr2:34772200-34772400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:34772400-34773000	Enhancers	Pancreas	Pancrea
19	chr2:34772400-34774200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:34773000-34773400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:34774000-34775000	Enhancers	NHEK	skin
22	chr2:34774200-34775400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:34774200-34775400	Enhancers	HMEC	breast
24	chr2:34774400-34775000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:34775000-34775400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:34775000-34775400	Flanking Active TSS	NHEK	skin
27	chr2:34792200-34792600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:34809400-34810200	Enhancers	Fetal Lung	lung
29	chr2:34829200-34829600	Enhancers	Brain Germinal Matrix	brain
30	chr2:34829400-34829600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:34842200-34842800	Enhancers	Fetal Lung	lung
32	chr2:34860400-34861000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links