Variant report

Variant	nsv1013325
Chromosome Location	chr2:34717068-34828665
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:12)
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	chr17:76778253..76778888-chr2:34769758..34770277,2	MCF-7	breast:
2	chr2:33906151..33906814-chr2:34795262..34796206,5	MCF-7	breast:
3	chr2:34321239..34322372-chr2:34772370..34773083,4	MCF-7	breast:
4	chr2:34237681..34238401-chr2:34795339..34796232,5	MCF-7	breast:
5	chr2:34321381..34322557-chr2:34795669..34796275,5	MCF-7	breast:
6	chr2:34237506..34238447-chr2:34795265..34796658,5	MCF-7	breast:
7	chr2:34795663..34796225-chr8:85142407..85143298,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000108669	chromatin interactions

Extended variants
information (count: 1077 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1077 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548346558	chr2:34717085-34717086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550921987	chr2:34717197-34717198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570782549	chr2:34717212-34717213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6543848	chr2:34717226-34717227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562066060	chr2:34717235-34717236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573949473	chr2:34717250-34717251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142087957	chr2:34717306-34717307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376703110	chr2:34717363-34717364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370328288	chr2:34717364-34717365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4016445	chr2:34717384-34717385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147796399	chr2:34717404-34717405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11308528	chr2:34717431-34717432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35921646	chr2:34717443-34717444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78519869	chr2:34717445-34717446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182874871	chr2:34717450-34717451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111934149	chr2:34717574-34717575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537773344	chr2:34717596-34717597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73928727	chr2:34717607-34717608	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188043660	chr2:34717662-34717663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533864484	chr2:34717689-34717690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141273457	chr2:34717737-34717738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573786053	chr2:34717792-34717793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6543849	chr2:34717799-34717800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372837027	chr2:34717815-34717816	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs146927710	chr2:34717822-34717823	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs147570287	chr2:34717880-34717881	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs140869125	chr2:34717890-34717891	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs79969158	chr2:34717931-34717932	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs191016844	chr2:34717949-34717950	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs560172532	chr2:34718001-34718002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375042025	chr2:34718011-34718012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371794480	chr2:34718013-34718014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548740432	chr2:34718034-34718035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568987134	chr2:34718054-34718055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544411287	chr2:34718061-34718062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376758181	chr2:34718070-34718071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150171367	chr2:34718204-34718205	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs869256	chr2:34718253-34718254	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs533726089	chr2:34718257-34718258	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs571073131	chr2:34718279-34718280	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs553813730	chr2:34718332-34718333	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs573745864	chr2:34718355-34718356	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs368729006	chr2:34718423-34718424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555911258	chr2:34718439-34718440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13382345	chr2:34718462-34718463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs544883056	chr2:34718466-34718467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4533453	chr2:34718587-34718588	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs4594418	chr2:34718621-34718622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs182388043	chr2:34718627-34718628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10626779	chr2:34718681-34718682	Enhancers	n/a	n/a	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
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	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34712800-34717800	Weak transcription	Fetal Intestine Large	intestine
2	chr2:34716600-34717200	Enhancers	Fetal Lung	lung
3	chr2:34717200-34717600	Weak transcription	Fetal Lung	lung
4	chr2:34717600-34717800	Enhancers	Fetal Lung	lung
5	chr2:34717800-34718000	Flanking Active TSS	Fetal Lung	lung
6	chr2:34717800-34718400	Enhancers	Fetal Intestine Large	intestine
7	chr2:34718000-34718200	Enhancers	Fetal Lung	lung
8	chr2:34718200-34718400	Flanking Active TSS	Fetal Lung	lung
9	chr2:34718400-34719000	Enhancers	Fetal Lung	lung
10	chr2:34719000-34720800	Weak transcription	Fetal Lung	lung
11	chr2:34720800-34721200	Enhancers	Fetal Lung	lung
12	chr2:34744400-34744600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:34744800-34746000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:34749200-34749600	Enhancers	NHEK	skin
15	chr2:34749200-34749800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:34752200-34752400	Enhancers	Fetal Kidney	kidney
17	chr2:34752400-34753200	Weak transcription	Fetal Kidney	kidney
18	chr2:34752800-34753200	Enhancers	Fetal Intestine Large	intestine
19	chr2:34753200-34753600	Enhancers	Fetal Intestine Small	intestine
20	chr2:34753200-34753600	Enhancers	Fetal Kidney	kidney
21	chr2:34753400-34753800	Enhancers	Fetal Intestine Large	intestine
22	chr2:34753600-34758800	Weak transcription	Fetal Kidney	kidney
23	chr2:34753600-34759000	Weak transcription	Fetal Intestine Small	intestine
24	chr2:34758800-34759200	Enhancers	Fetal Kidney	kidney
25	chr2:34758800-34760600	Enhancers	Fetal Lung	lung
26	chr2:34759000-34760600	Enhancers	Fetal Intestine Small	intestine
27	chr2:34759200-34759400	Weak transcription	Fetal Kidney	kidney
28	chr2:34759200-34761400	Enhancers	Fetal Intestine Large	intestine
29	chr2:34759400-34759800	Enhancers	Fetal Kidney	kidney
30	chr2:34761200-34761600	Enhancers	Pancreas	Pancrea
31	chr2:34770400-34771000	Enhancers	Fetal Muscle Trunk	muscle
32	chr2:34772200-34772400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:34772400-34773000	Enhancers	Pancreas	Pancrea
34	chr2:34772400-34774200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:34773000-34773400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:34774000-34775000	Enhancers	NHEK	skin
37	chr2:34774200-34775400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:34774200-34775400	Enhancers	HMEC	breast
39	chr2:34774400-34775000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:34775000-34775400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:34775000-34775400	Flanking Active TSS	NHEK	skin
42	chr2:34792200-34792600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:34809400-34810200	Enhancers	Fetal Lung	lung

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