Variant report

Variant	nsv213847
Chromosome Location	chr2:38894511-38894838
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:0)
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	chr2:38829496..38831232-chr2:38893143..38894875,2	MCF-7	breast:
2	chr2:38818005..38820191-chr2:38893287..38895221,2	K562	blood:
3	chr2:38893888..38897011-chr2:38898419..38901251,3	K562	blood:
4	chr2:38777679..38779633-chr2:38893883..38895640,2	K562	blood:
5	chr2:38884282..38886148-chr2:38894534..38896833,2	K562	blood:
6	chr2:38824811..38832919-chr2:38891494..38898299,16	K562	blood:
7	chr2:38891861..38895889-chr2:38976029..38979857,7	K562	blood:
8	chr2:38892007..38895113-chr2:38976994..38979857,4	K562	blood:
9	chr2:38891733..38894492-chr2:38894527..38896151,2	K562	blood:
10	chr2:38825670..38832919-chr2:38891527..38903424,21	K562	blood:

No data

Variant related genes	Relation type
ENSG00000152147	chromatin interactions
ENSG00000143891	chromatin interactions
ENSG00000235586	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000143889	chromatin interactions
ENSG00000232518	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568063008	chr2:38894513-38894514	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs7574493	chr2:38894528-38894529	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553893025	chr2:38894541-38894542	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs192786726	chr2:38894571-38894572	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs184233472	chr2:38894583-38894584	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs190825842	chr2:38894587-38894588	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs182066382	chr2:38894610-38894611	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs544304042	chr2:38894669-38894670	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs556476502	chr2:38894685-38894686	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs184763904	chr2:38894728-38894729	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs189095625	chr2:38894734-38894735	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs560189575	chr2:38894740-38894741	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs537568427	chr2:38894744-38894745	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs527912841	chr2:38894748-38894749	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs545951652	chr2:38894760-38894761	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs181519397	chr2:38894773-38894774	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs574980861	chr2:38894786-38894787	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs185769872	chr2:38894787-38894788	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs549520431	chr2:38894792-38894793	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs568086515	chr2:38894820-38894821	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs113298647	chr2:38894830-38894831	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs547544948	chr2:38894831-38894832	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38892800-38894600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr2:38892800-38894600	Flanking Active TSS	GM12878-XiMat	blood
3	chr2:38892800-38894800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:38892800-38895200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:38892800-38895200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr2:38892800-38895400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:38892800-38895400	Active TSS	Right Atrium	heart
8	chr2:38892800-38895600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr2:38893000-38894600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr2:38893200-38894600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr2:38893200-38894600	Flanking Active TSS	Liver	Liver
12	chr2:38893200-38894600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr2:38893200-38894600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr2:38893400-38894600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:38893400-38894600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr2:38893400-38894600	Flanking Active TSS	Fetal Intestine Small	intestine
17	chr2:38893600-38894600	Flanking Active TSS	K562	blood
18	chr2:38893600-38895200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:38893600-38895800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr2:38893800-38894600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:38893800-38894600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr2:38893800-38894600	Enhancers	Spleen	Spleen
23	chr2:38893800-38894600	Flanking Active TSS	Osteobl	bone
24	chr2:38893800-38895200	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr2:38893800-38897400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:38893800-38903000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:38894000-38894600	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr2:38894000-38895600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:38894000-38896400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:38894000-38897400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:38894000-38903000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:38894000-38903000	Weak transcription	Lung	lung
33	chr2:38894000-38904200	Weak transcription	Esophagus	oesophagus
34	chr2:38894000-38904400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:38894000-38917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:38894200-38894600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:38894200-38894800	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:38894200-38895000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:38894200-38895000	Enhancers	Colonic Mucosa	Colon
40	chr2:38894200-38895000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr2:38894200-38895400	Flanking Active TSS	HepG2	liver
42	chr2:38894200-38895600	Enhancers	Fetal Muscle Leg	muscle
43	chr2:38894200-38897400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:38894200-38897600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:38894200-38898200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:38894200-38903200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:38894200-38903400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:38894200-38904000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:38894200-38904000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:38894200-38904000	Weak transcription	Placenta Amnion	Placenta Amnion

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