Variant report

Variant	nsv524919
Chromosome Location	chr2:48649738-48658779
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	chr2:48648611..48650964-chr2:48651861..48653662,2	MCF-7	breast:
2	chr2:48336922..48340984-chr2:48645140..48651052,10	MCF-7	breast:
3	chr2:48648611..48650964-chr2:48651861..48653662,2	MCF-7	breast:
4	chr2:48657438..48659141-chr2:48667861..48669898,2	K562	blood:
5	chr2:48652219..48654602-chr2:48666881..48668587,2	MCF-7	breast:
6	chr2:48541412..48543498-chr2:48651556..48653117,2	K562	blood:
7	chr2:48647192..48649423-chr2:48652404..48655156,2	MCF-7	breast:
8	chr2:48649540..48651703-chr2:48667084..48669876,2	MCF-7	breast:
9	chr2:48655319..48657262-chr2:48667568..48669240,2	K562	blood:
10	chr2:48649795..48653171-chr2:48665814..48667830,3	K562	blood:
11	chr2:48649466..48652347-chr2:48667979..48669728,2	K562	blood:
12	chr2:48337576..48339769-chr2:48655484..48657436,2	MCF-7	breast:
13	chr2:48657438..48661343-chr2:48665972..48669898,5	K562	blood:
14	chr2:48541072..48542749-chr2:48647809..48650233,2	K562	blood:
15	chr2:48643733..48645696-chr2:48650632..48652708,2	K562	blood:
16	chr2:48645150..48646743-chr2:48650153..48652145,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272663	chromatin interactions
ENSG00000170802	chromatin interactions
ENSG00000162869	chromatin interactions

Extended variants
information (count: 403 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4552233	chr2:48649738-48649739	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530633655	chr2:48649759-48649760	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs139978844	chr2:48649787-48649788	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs77835513	chr2:48649839-48649840	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs189111188	chr2:48649864-48649865	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs532002265	chr2:48649880-48649881	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs112549805	chr2:48649888-48649889	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs547479327	chr2:48649913-48649914	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs143556697	chr2:48649936-48649937	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs146787412	chr2:48649937-48649938	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs140115162	chr2:48649962-48649963	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs548764038	chr2:48650127-48650128	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs570247642	chr2:48650130-48650131	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs537766833	chr2:48650150-48650151	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs559288573	chr2:48650175-48650176	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs376407823	chr2:48650196-48650197	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs570898470	chr2:48650216-48650217	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs200624294	chr2:48650230-48650231	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs201263437	chr2:48650239-48650240	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs60988618	chr2:48650240-48650241	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs59889722	chr2:48650241-48650242	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs74986366	chr2:48650242-48650243	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs397957792	chr2:48650256-48650257	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs375482325	chr2:48650257-48650258	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs534667801	chr2:48650278-48650279	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs4316980	chr2:48650308-48650309	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs368720056	chr2:48650360-48650361	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs4494796	chr2:48650369-48650370	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs76021644	chr2:48650446-48650447	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs554373964	chr2:48650565-48650566	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs139576575	chr2:48650571-48650572	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs542621224	chr2:48650573-48650574	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs555603322	chr2:48650584-48650585	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs376043563	chr2:48650623-48650624	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs57582834	chr2:48650649-48650650	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs78355467	chr2:48650651-48650652	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs532138238	chr2:48650652-48650653	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs556636531	chr2:48650674-48650675	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs142865970	chr2:48650679-48650680	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs151075608	chr2:48650720-48650721	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs529785127	chr2:48650729-48650730	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs578067897	chr2:48650750-48650751	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs180976071	chr2:48650809-48650810	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs141031246	chr2:48650827-48650828	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs560360891	chr2:48650867-48650868	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs552911549	chr2:48650914-48650915	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs113769499	chr2:48650955-48650956	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs139033842	chr2:48651006-48651007	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs561019583	chr2:48651039-48651040	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs553127979	chr2:48651056-48651057	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Breast cancer	17603634	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48643600-48651200	Weak transcription	Psoas Muscle	Psoas
2	chr2:48645200-48651000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:48647800-48651800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:48648000-48650200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:48648000-48650200	Weak transcription	NH-A	brain
6	chr2:48648000-48650200	Weak transcription	NHLF	lung
7	chr2:48648000-48651600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:48648000-48655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:48648200-48650200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:48648200-48651600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:48648400-48650000	Weak transcription	NHDF-Ad	bronchial
12	chr2:48648400-48650200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:48648400-48650200	Weak transcription	HMEC	breast
14	chr2:48648400-48650200	Weak transcription	NHEK	skin
15	chr2:48648400-48650400	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:48648400-48650400	Weak transcription	Osteobl	bone
17	chr2:48648400-48651600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:48648400-48651600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:48648400-48652400	Weak transcription	K562	blood
20	chr2:48648600-48650400	Weak transcription	A549	lung
21	chr2:48649400-48651000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:48650000-48651200	Enhancers	NHDF-Ad	bronchial
23	chr2:48650200-48650600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:48650200-48650600	Enhancers	HMEC	breast
25	chr2:48650200-48650600	Enhancers	NH-A	brain
26	chr2:48650200-48651000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:48650200-48651000	Enhancers	NHEK	skin
28	chr2:48650200-48651000	Enhancers	NHLF	lung
29	chr2:48650200-48651200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:48650400-48650600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:48650400-48651000	Enhancers	A549	lung
32	chr2:48650400-48651000	Enhancers	Osteobl	bone
33	chr2:48650400-48652800	Enhancers	Brain Hippocampus Middle	brain
34	chr2:48650600-48651600	Weak transcription	HMEC	breast
35	chr2:48651000-48653400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:48651600-48651800	Enhancers	Brain Cingulate Gyrus	brain
37	chr2:48651600-48651800	Bivalent Enhancer	HepG2	liver
38	chr2:48651600-48651800	Enhancers	HMEC	breast
39	chr2:48651600-48652000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:48651600-48653000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:48651600-48653000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr2:48651800-48652000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:48651800-48652400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:48652000-48660200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:48652400-48652600	Enhancers	Brain Cingulate Gyrus	brain
46	chr2:48652400-48653000	Enhancers	K562	blood
47	chr2:48653600-48661200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:48654800-48655200	Enhancers	Fetal Intestine Large	intestine
49	chr2:48654800-48655200	Enhancers	Small Intestine	intestine
50	chr2:48654800-48655600	Enhancers	HepG2	liver

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