Variant report

Variant	esv3393036
Chromosome Location	chr2:47482098-47484471
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:47401569..47403702-chr2:47481617..47483569,3	K562	blood:
2	chr2:47473511..47478428-chr2:47483950..47488018,4	MCF-7	breast:
3	chr2:47482267..47483917-chr2:47489154..47492083,2	MCF-7	breast:
4	chr2:47419209..47420716-chr2:47482219..47483984,2	MCF-7	breast:
5	chr2:47401545..47404971-chr2:47483615..47487701,5	MCF-7	breast:
6	chr2:47401084..47403383-chr2:47484393..47487548,4	K562	blood:
7	chr2:47477685..47479668-chr2:47480909..47483654,2	MCF-7	breast:
8	chr2:47399224..47401292-chr2:47482890..47486794,3	MCF-7	breast:
9	chr2:47399035..47407354-chr2:47479551..47494841,29	MCF-7	breast:
10	chr2:47400516..47406880-chr2:47471949..47486822,24	K562	blood:
11	chr2:47478646..47481044-chr2:47483765..47486319,2	MCF-7	breast:
12	chr2:47475912..47477732-chr2:47481977..47484022,2	K562	blood:
13	chr2:47484144..47487627-chr2:47488980..47491395,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143933	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528890074	chr2:47482135-47482136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375725079	chr2:47482152-47482153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12612772	chr2:47482167-47482168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10169583	chr2:47482172-47482173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532890087	chr2:47482173-47482174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573212124	chr2:47482195-47482196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs373998398	chr2:47482233-47482234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs145198477	chr2:47482281-47482282	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566690974	chr2:47482288-47482289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529095656	chr2:47482406-47482407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35012648	chr2:47482457-47482458	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573412025	chr2:47482480-47482481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573884017	chr2:47482499-47482500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs550543349	chr2:47482547-47482548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112527099	chr2:47482575-47482576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556284672	chr2:47482586-47482587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140350854	chr2:47482594-47482595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11885910	chr2:47482612-47482613	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs144210109	chr2:47482652-47482653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374092083	chr2:47482656-47482657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35079138	chr2:47482664-47482665	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545016102	chr2:47482674-47482675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181495727	chr2:47482710-47482711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528725463	chr2:47482754-47482755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576327178	chr2:47482761-47482762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546908866	chr2:47482762-47482763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35077201	chr2:47482768-47482769	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs532909687	chr2:47482774-47482775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376208436	chr2:47482837-47482838	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76687005	chr2:47482841-47482842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs142444387	chr2:47482846-47482847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375795404	chr2:47482861-47482862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10182516	chr2:47482862-47482863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186328713	chr2:47482867-47482868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs151309792	chr2:47482872-47482873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10170150	chr2:47482881-47482882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140674262	chr2:47482898-47482899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10193662	chr2:47482900-47482901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs9309143	chr2:47482907-47482908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189958125	chr2:47482908-47482909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13388438	chr2:47482924-47482925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs10170162	chr2:47482933-47482934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs9798303	chr2:47482934-47482935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs184975716	chr2:47482946-47482947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190962812	chr2:47482950-47482951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183185556	chr2:47482969-47482970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187093542	chr2:47482976-47482977	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111815644	chr2:47482977-47482978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549193334	chr2:47482980-47482981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567420509	chr2:47482986-47482987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Colorectal cancer	17569143	CNVD
Hereditary non-polyposis colorectal cancer	16941473	CNVD
Lynch syndrome	16541406	CNVD
Non-syndromic sensorineural hearing loss	19173287	CNVD
Hereditary non-polyposis colorectal cancer	17228328	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Lynch syndrome	20937110	CNVD
Breast cancer	20616022	CNVD
Colorectal cancer	18708397	CNVD
Endometrial cancer	18708397	CNVD
Lynch syndrome	18708397	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47476600-47483800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:47476800-47483600	Weak transcription	A549	lung
3	chr2:47477000-47483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:47477000-47483400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:47477000-47491400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:47477200-47491200	Weak transcription	Brain Anterior Caudate	brain
7	chr2:47478000-47483600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:47478200-47483600	Weak transcription	NH-A	brain
9	chr2:47478600-47483800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:47478800-47487400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:47478800-47496400	Weak transcription	Hela-S3	cervix
12	chr2:47479600-47482400	Enhancers	Fetal Intestine Small	intestine
13	chr2:47480000-47486600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:47481200-47482200	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:47481200-47482200	Enhancers	GM12878-XiMat	blood
16	chr2:47481400-47484000	Weak transcription	Fetal Intestine Large	intestine
17	chr2:47482200-47485000	Weak transcription	GM12878-XiMat	blood
18	chr2:47482400-47489400	Weak transcription	Fetal Intestine Small	intestine
19	chr2:47482400-47491400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:47483000-47483400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:47483400-47484200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:47483400-47484200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:47483400-47484200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:47483400-47484400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:47483400-47484600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr2:47483400-47484600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:47483400-47484600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:47483400-47485200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:47483400-47485600	Enhancers	HSMM	muscle
30	chr2:47483400-47485800	Enhancers	HSMMtube	muscle
31	chr2:47483600-47483800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:47483600-47483800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr2:47483600-47484000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:47483600-47484000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:47483600-47484000	Enhancers	Placenta	Placenta
36	chr2:47483600-47484000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:47483600-47484200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:47483600-47484200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:47483600-47484200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:47483600-47484200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:47483600-47484200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr2:47483600-47484200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:47483600-47484200	Enhancers	Brain Angular Gyrus	brain
44	chr2:47483600-47484200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr2:47483600-47484200	Enhancers	NH-A	brain
46	chr2:47483600-47484400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:47483600-47484400	Enhancers	Brain Cingulate Gyrus	brain
48	chr2:47483600-47484400	Enhancers	A549	lung
49	chr2:47483600-47484400	Bivalent Enhancer	HepG2	liver
50	chr2:47483800-47484000	Enhancers	Fetal Muscle Leg	muscle

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