Variant report

Variant	nsv979000
Chromosome Location	chr2:47088519-47093944
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:1)
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	chr2:47084849..47086981-chr2:47087555..47090038,3	K562	blood:
2	chr2:47069595..47073036-chr2:47089571..47092163,3	MCF-7	breast:
3	chr2:47090932..47093573-chr2:47096507..47098413,2	K562	blood:
4	chr2:47090932..47093408-chr2:47096445..47099891,3	K562	blood:
5	chr2:47091177..47094224-chr2:47098051..47100562,3	MCF-7	breast:
6	chr2:47081883..47083635-chr2:47087209..47088853,2	MCF-7	breast:
7	chr2:47088613..47092145-chr2:47092514..47095025,5	K562	blood:
8	chr2:47085558..47087173-chr2:47093819..47096173,2	K562	blood:
9	chr2:47087833..47089344-chr2:47097386..47099191,2	MCF-7	breast:
10	chr2:47088613..47092145-chr2:47092514..47095025,5	K562	blood:
11	chr2:47080558..47082163-chr2:47086057..47089027,2	K562	blood:
12	chr2:47086468..47088123-chr2:47090106..47091660,2	K562	blood:
13	chr2:47090235..47092918-chr2:47097599..47101021,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC016722.2.1-1	chr2:47090678-47090752	XLOC_001460

No data

Variant related genes	Relation type
ENSG00000239332	chromatin interactions
ENSG00000226548	chromatin interactions

Extended variants
information (count: 239 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535462493	chr2:47088519-47088520	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs188430185	chr2:47088538-47088539	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs78771518	chr2:47088592-47088593	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs369262400	chr2:47088604-47088605	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs114558634	chr2:47088608-47088609	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs557713235	chr2:47088610-47088611	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529973069	chr2:47088611-47088612	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs72884772	chr2:47088624-47088625	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs180912725	chr2:47088660-47088661	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs555265668	chr2:47088675-47088676	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs147276037	chr2:47088688-47088689	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs544233521	chr2:47088705-47088706	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs562981426	chr2:47088706-47088707	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs184926279	chr2:47088707-47088708	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs79186428	chr2:47088749-47088750	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533314334	chr2:47088754-47088755	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs548364099	chr2:47088776-47088777	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs115454971	chr2:47088820-47088821	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs140771175	chr2:47088826-47088827	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs192317567	chr2:47088840-47088841	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs549668122	chr2:47088842-47088843	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs182121327	chr2:47088854-47088855	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs528878951	chr2:47088882-47088883	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4953431	chr2:47088920-47088921	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs534568544	chr2:47088934-47088935	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187134712	chr2:47088963-47088964	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs28469720	chr2:47089032-47089033	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs557837934	chr2:47089119-47089120	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs4953432	chr2:47089151-47089152	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs533753387	chr2:47089250-47089251	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs78505242	chr2:47089284-47089285	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs191518132	chr2:47089303-47089304	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs537848561	chr2:47089337-47089338	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs76452055	chr2:47089343-47089344	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs572694416	chr2:47089377-47089378	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs542990029	chr2:47089401-47089402	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs577979581	chr2:47089411-47089412	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs182784145	chr2:47089439-47089440	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs12471311	chr2:47089443-47089444	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs10514803	chr2:47089473-47089474	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs142273799	chr2:47089481-47089482	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs115428109	chr2:47089534-47089535	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs187254495	chr2:47089554-47089555	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs532090948	chr2:47089616-47089617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562879054	chr2:47089621-47089622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs367836011	chr2:47089622-47089623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs550539995	chr2:47089624-47089625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs138710402	chr2:47089628-47089629	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs935371	chr2:47089632-47089633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs540963304	chr2:47089702-47089703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47080800-47103600	Enhancers	Placenta	Placenta
2	chr2:47081400-47091000	Enhancers	NHDF-Ad	bronchial
3	chr2:47082200-47089000	Weak transcription	Colonic Mucosa	Colon
4	chr2:47083200-47088600	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:47084000-47088800	Weak transcription	Right Ventricle	heart
6	chr2:47084000-47093200	Weak transcription	Ovary	ovary
7	chr2:47084000-47093600	Weak transcription	Right Atrium	heart
8	chr2:47085000-47090400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:47085800-47089400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:47086000-47088600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:47086000-47091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:47086200-47088800	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:47086200-47089400	Weak transcription	A549	lung
14	chr2:47086800-47090400	Weak transcription	HSMMtube	muscle
15	chr2:47087000-47088600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:47087200-47088800	Weak transcription	Osteobl	bone
17	chr2:47087200-47089000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:47087200-47089200	Weak transcription	NHLF	lung
19	chr2:47087600-47088800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:47087600-47088800	Enhancers	Spleen	Spleen
21	chr2:47087600-47091600	Enhancers	Fetal Lung	lung
22	chr2:47087800-47088800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:47087800-47097400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:47088200-47088800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr2:47088200-47089400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:47088200-47089400	Bivalent Enhancer	Fetal Stomach	stomach
27	chr2:47088400-47088600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:47088400-47089000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:47088400-47089200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:47088400-47090200	Enhancers	Left Ventricle	heart
31	chr2:47088400-47091400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:47088600-47090000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:47088600-47090200	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:47088600-47090600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:47088600-47092000	Enhancers	Fetal Muscle Leg	muscle
36	chr2:47088800-47089000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr2:47088800-47089400	Enhancers	Adipose Nuclei	Adipose
38	chr2:47088800-47089600	Enhancers	Right Ventricle	heart
39	chr2:47088800-47089800	Enhancers	Colon Smooth Muscle	Colon
40	chr2:47088800-47089800	Enhancers	Fetal Kidney	kidney
41	chr2:47088800-47089800	Enhancers	Fetal Muscle Trunk	muscle
42	chr2:47088800-47090000	Enhancers	Osteobl	bone
43	chr2:47088800-47090400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:47088800-47091200	Weak transcription	Spleen	Spleen
45	chr2:47088800-47091400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:47089000-47089200	Enhancers	Colonic Mucosa	Colon
47	chr2:47089000-47089800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr2:47089000-47090000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:47089000-47090000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr2:47089200-47090000	Enhancers	NHLF	lung

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