Variant report

Variant	nsv833714
Chromosome Location	chr2:34348193-34504892
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:34437642..34440323-chr2:34446994..34448643,2	K562	blood:
2	chr2:34469910..34471896-chr2:34475795..34477495,2	MCF-7	breast:
3	chr2:34451708..34454413-chr2:34493747..34495311,2	K562	blood:
4	chr2:34416041..34418842-chr2:34421357..34424092,2	K562	blood:
5	chr2:34401156..34402823-chr2:34426410..34428532,2	K562	blood:
6	chr2:34416041..34418842-chr2:34421357..34424092,2	K562	blood:
7	chr2:34437642..34440323-chr2:34446994..34448643,2	K562	blood:
8	chr2:34469910..34471896-chr2:34475795..34477495,2	MCF-7	breast:
9	chr2:34451708..34454413-chr2:34493747..34495311,2	K562	blood:
10	chr2:34401156..34402823-chr2:34426410..34428532,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-13	chr2:34463088-34463140	NONHSAT070033
2	lnc-RASGRP3-13	chr2:34462359-34462780	NONHSAT070033

No data

Extended variants
information (count: 3146 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:3146 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563370094	chr2:34348841-34348842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72858607	chr2:34348855-34348856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139369868	chr2:34348917-34348918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372853875	chr2:34348929-34348930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565644637	chr2:34348945-34348946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550758474	chr2:34348968-34348969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111999161	chr2:34349005-34349006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534936937	chr2:34349049-34349050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548164440	chr2:34349050-34349051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568278766	chr2:34349057-34349058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569096667	chr2:34349062-34349063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536842524	chr2:34349089-34349090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556283181	chr2:34349108-34349109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576141113	chr2:34349131-34349132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371346216	chr2:34349146-34349147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373858117	chr2:34349251-34349252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538715098	chr2:34349281-34349282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184814116	chr2:34349283-34349284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572330103	chr2:34349286-34349287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541745378	chr2:34349326-34349327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189671557	chr2:34349351-34349352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181902702	chr2:34349355-34349356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539674804	chr2:34349365-34349366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544033998	chr2:34349386-34349387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62130360	chr2:34349387-34349388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75954766	chr2:34349390-34349391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563832509	chr2:34349399-34349400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532260472	chr2:34349420-34349421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185249928	chr2:34349430-34349431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559327208	chr2:34349494-34349495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528057666	chr2:34349512-34349513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545554373	chr2:34349529-34349530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548503184	chr2:34349531-34349532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568258846	chr2:34349532-34349533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113047017	chr2:34349533-34349534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144408945	chr2:34349542-34349543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570285897	chr2:34349547-34349548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190496427	chr2:34349563-34349564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538777076	chr2:34349571-34349572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375390972	chr2:34349633-34349634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141011966	chr2:34349660-34349661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572427551	chr2:34349705-34349706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549057251	chr2:34349709-34349710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181952221	chr2:34349736-34349737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534705680	chr2:34349741-34349742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116701076	chr2:34349743-34349744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554903612	chr2:34349772-34349773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1425014	chr2:34349790-34349791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544094848	chr2:34349793-34349794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72790748	chr2:34349805-34349806	Enhancers	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
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
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34348800-34350800	Enhancers	Fetal Intestine Small	intestine
2	chr2:34349000-34350200	Enhancers	Fetal Kidney	kidney
3	chr2:34349000-34350800	Enhancers	Fetal Intestine Large	intestine
4	chr2:34352400-34352800	Enhancers	Fetal Intestine Small	intestine
5	chr2:34359800-34360000	Bivalent Enhancer	Esophagus	oesophagus
6	chr2:34363200-34364000	Enhancers	Ovary	ovary
7	chr2:34367400-34368200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:34367800-34368000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:34368200-34368600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:34368200-34369800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:34371400-34372000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:34372800-34373000	Enhancers	Gastric	stomach
13	chr2:34373000-34373600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:34387400-34387600	Enhancers	Gastric	stomach
15	chr2:34399200-34400200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:34401800-34402000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:34402000-34402800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:34402800-34403000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:34403000-34403800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:34403800-34404000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:34403800-34404200	Enhancers	Brain Substantia Nigra	brain
22	chr2:34412200-34412400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:34412600-34413600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:34413400-34414600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:34413600-34414200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:34413600-34414200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr2:34413600-34414200	Enhancers	Brain Hippocampus Middle	brain
28	chr2:34413800-34414600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:34414000-34414400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:34414000-34414400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:34414000-34414400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:34416400-34416600	Enhancers	Pancreas	Pancrea
33	chr2:34416600-34416800	Genic enhancers	Pancreas	Pancrea
34	chr2:34416800-34418800	Weak transcription	Pancreas	Pancrea
35	chr2:34418800-34419200	Enhancers	Pancreas	Pancrea
36	chr2:34421000-34422000	Enhancers	Fetal Brain Male	brain
37	chr2:34431600-34432000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:34431600-34432000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:34432000-34432200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:34433800-34438600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:34438600-34441800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:34441800-34442800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:34453800-34455400	Enhancers	Ovary	ovary
44	chr2:34455200-34455400	Enhancers	Pancreas	Pancrea
45	chr2:34455400-34456400	Weak transcription	Ovary	ovary
46	chr2:34455400-34460200	Weak transcription	Pancreas	Pancrea
47	chr2:34456400-34457000	Enhancers	Ovary	ovary
48	chr2:34457000-34465600	Weak transcription	Ovary	ovary
49	chr2:34460800-34463400	Weak transcription	Pancreas	Pancrea
50	chr2:34462400-34462600	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