Variant report

Variant	nsv526478
Chromosome Location	chr2:47476816-47477584
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47475912..47477732-chr2:47481977..47484022,2	K562	blood:
2	chr2:47465412..47469681-chr2:47474773..47478680,4	MCF-7	breast:
3	chr2:47409469..47411339-chr2:47477135..47479722,2	MCF-7	breast:
4	chr2:47473511..47478428-chr2:47483950..47488018,4	MCF-7	breast:
5	chr2:47471172..47473317-chr2:47476209..47479649,3	MCF-7	breast:
6	chr2:47470923..47472843-chr2:47474317..47476845,2	K562	blood:
7	chr2:47476493..47480049-chr2:47496667..47500826,6	MCF-7	breast:
8	chr2:47462905..47465893-chr2:47474409..47477265,3	MCF-7	breast:
9	chr2:47402265..47404474-chr2:47473092..47477391,4	MCF-7	breast:
10	chr2:47418320..47420689-chr2:47477088..47480602,4	MCF-7	breast:
11	chr2:47400916..47405681-chr2:47469986..47480951,19	K562	blood:
12	chr2:47450507..47453723-chr2:47476153..47479003,3	MCF-7	breast:
13	chr2:47441944..47444316-chr2:47476312..47479303,2	MCF-7	breast:
14	chr2:47400516..47406880-chr2:47471949..47486822,24	K562	blood:
15	chr2:47401347..47405305-chr2:47474858..47480763,8	MCF-7	breast:
16	chr2:47477055..47479211-chr2:47498989..47500882,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143933	chromatin interactions
ENSG00000226087	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10209637	chr2:47476816-47476817	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529905171	chr2:47476826-47476827	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs12328197	chr2:47476877-47476878	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs12329350	chr2:47476926-47476927	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191013288	chr2:47476963-47476964	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529266733	chr2:47476987-47476988	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs552748390	chr2:47477008-47477009	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs570836779	chr2:47477049-47477050	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs551111409	chr2:47477058-47477059	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs562943022	chr2:47477077-47477078	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs533595965	chr2:47477109-47477110	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs182859919	chr2:47477129-47477130	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs567097985	chr2:47477156-47477157	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs534509288	chr2:47477171-47477172	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373920518	chr2:47477188-47477189	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs368800787	chr2:47477216-47477217	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs187502266	chr2:47477263-47477264	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs373450016	chr2:47477264-47477265	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs140148142	chr2:47477289-47477290	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs568063627	chr2:47477291-47477292	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs116579643	chr2:47477301-47477302	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs192351429	chr2:47477316-47477317	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs574977583	chr2:47477319-47477320	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs528529131	chr2:47477331-47477332	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs376682250	chr2:47477347-47477348	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs539286771	chr2:47477359-47477360	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs557930436	chr2:47477371-47477372	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs146933778	chr2:47477372-47477373	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs369344904	chr2:47477380-47477381	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs531751289	chr2:47477419-47477420	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs576052374	chr2:47477420-47477421	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs74671872	chr2:47477442-47477443	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs574105789	chr2:47477461-47477462	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs370802138	chr2:47477496-47477497	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs570500035	chr2:47477519-47477520	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs544595661	chr2:47477550-47477551	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs183173380	chr2:47477567-47477568	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs534586818	chr2:47477568-47477569	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs77492063	chr2:47477578-47477579	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs904160	chr2:47477584-47477585	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
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
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	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47475800-47477200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:47475800-47477200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:47475800-47478600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:47475800-47478800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:47476000-47477000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:47476000-47477000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:47476000-47477200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:47476000-47477600	Enhancers	Hela-S3	cervix
9	chr2:47476000-47478000	Enhancers	Fetal Muscle Leg	muscle
10	chr2:47476000-47478200	Enhancers	HSMM	muscle
11	chr2:47476000-47479400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:47476200-47477000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:47476200-47477200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:47476400-47477000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
15	chr2:47476400-47477000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:47476400-47477200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:47476400-47477200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:47476400-47477200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:47476400-47477400	Enhancers	Fetal Intestine Small	intestine
20	chr2:47476400-47478000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:47476400-47478000	Enhancers	Duodenum Mucosa	Duodenum
22	chr2:47476400-47478200	Enhancers	NH-A	brain
23	chr2:47476600-47477000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:47476600-47477000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:47476600-47477000	Active TSS	Stomach Smooth Muscle	stomach
26	chr2:47476600-47477000	Flanking Active TSS	HSMMtube	muscle
27	chr2:47476600-47478000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:47476600-47478600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:47476600-47483800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:47476800-47477000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:47476800-47477200	Enhancers	Brain Anterior Caudate	brain
32	chr2:47476800-47477800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:47476800-47478200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:47476800-47483600	Weak transcription	A549	lung
35	chr2:47477000-47477400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:47477000-47477400	Enhancers	HSMMtube	muscle
37	chr2:47477000-47483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:47477000-47483400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:47477000-47491400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:47477200-47491200	Weak transcription	Brain Anterior Caudate	brain
41	chr2:47477400-47477600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:47477400-47477800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr2:47477400-47479600	Weak transcription	Fetal Intestine Small	intestine

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