Variant report

Variant	nsv876603
Chromosome Location	chr3:20626326-20727885
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	chr3:20687019..20688591-chr3:20688596..20691199,2	K562	blood:
2	chr3:20711400..20713632-chr3:20716289..20718523,2	K562	blood:
3	chr3:20711400..20713632-chr3:20716289..20718523,2	K562	blood:
4	chr3:20684159..20686441-chr3:20690637..20692411,2	K562	blood:
5	chr3:20691277..20693337-chr3:20693426..20695477,2	MCF-7	breast:
6	chr3:20684159..20686441-chr3:20690637..20692411,2	K562	blood:
7	chr17:56736117..56736939-chr3:20708807..20709685,2	MCF-7	breast:
8	chr3:20715510..20717921-chr7:148983239..148984740,2	MCF-7	breast:
9	chr3:20691277..20693337-chr3:20693426..20695477,2	MCF-7	breast:
10	chr3:20687019..20688591-chr3:20688596..20691199,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000252557	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000244560	chromatin interactions

Extended variants
information (count: 2038 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2038 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576526458	chr3:20627235-20627236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116739168	chr3:20627241-20627242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182333372	chr3:20627248-20627249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532838903	chr3:20627283-20627284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547277282	chr3:20627325-20627326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567113484	chr3:20627343-20627344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187127757	chr3:20627365-20627366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530200753	chr3:20627405-20627406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548693649	chr3:20627433-20627434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567002066	chr3:20627476-20627477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531241897	chr3:20627533-20627534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191945816	chr3:20627537-20627538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17007204	chr3:20627558-20627559	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538925851	chr3:20627644-20627645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183594111	chr3:20627645-20627646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534773052	chr3:20627657-20627658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368229594	chr3:20627680-20627681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529303457	chr3:20627694-20627695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571736457	chr3:20627703-20627704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188233661	chr3:20627726-20627727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138562199	chr3:20630245-20630246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568126816	chr3:20630248-20630249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73027453	chr3:20630257-20630258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs75654383	chr3:20630272-20630273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75199586	chr3:20630273-20630274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs398081944	chr3:20630282-20630283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143696363	chr3:20630283-20630284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561591371	chr3:20630292-20630293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35351268	chr3:20630332-20630333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3065445	chr3:20630333-20630334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141086171	chr3:20630346-20630347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs62242105	chr3:20630395-20630396	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372458829	chr3:20630476-20630477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73191073	chr3:20630478-20630479	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs549570796	chr3:20630481-20630482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188274612	chr3:20630482-20630483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541145156	chr3:20630491-20630492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13074954	chr3:20630498-20630499	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs79423505	chr3:20630510-20630511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367662758	chr3:20630522-20630523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541833594	chr3:20630549-20630550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191406162	chr3:20630578-20630579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556771524	chr3:20630581-20630582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530712972	chr3:20630584-20630585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183813657	chr3:20630589-20630590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564132954	chr3:20630631-20630632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187740607	chr3:20630646-20630647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546708936	chr3:20630657-20630658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570159334	chr3:20630678-20630679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146932291	chr3:20630702-20630703	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20627200-20627600	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr3:20627200-20627800	Enhancers	Fetal Lung	lung
3	chr3:20627400-20627800	Enhancers	Brain Germinal Matrix	brain
4	chr3:20630200-20631800	Enhancers	HepG2	liver
5	chr3:20637400-20637800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:20639600-20639800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:20639800-20644400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:20641800-20642200	Enhancers	NHDF-Ad	bronchial
9	chr3:20641800-20642400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:20644400-20644600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:20654200-20656200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:20660000-20660400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:20661400-20663400	Weak transcription	NHDF-Ad	bronchial
14	chr3:20663400-20664000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:20663400-20664000	Enhancers	NHDF-Ad	bronchial
16	chr3:20663600-20664200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:20663600-20664400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:20663800-20664000	Enhancers	Aorta	Aorta
19	chr3:20664000-20664200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:20664000-20664200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:20664000-20664200	ZNF genes & repeats	Pancreas	Pancrea
22	chr3:20664000-20664400	Flanking Active TSS	NHDF-Ad	bronchial
23	chr3:20664000-20664400	Enhancers	Osteobl	bone
24	chr3:20664000-20664600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:20664200-20664600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:20664400-20665600	Enhancers	NHDF-Ad	bronchial
27	chr3:20672400-20673000	Enhancers	HUVEC	blood vessel
28	chr3:20678600-20679800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:20679000-20679400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:20679000-20679400	Active TSS	Fetal Brain Male	brain
31	chr3:20679000-20679400	Enhancers	NHLF	lung
32	chr3:20679000-20679600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr3:20679000-20679800	Enhancers	NHDF-Ad	bronchial
34	chr3:20679200-20679600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:20679200-20679600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:20679200-20680200	Enhancers	Fetal Lung	lung
37	chr3:20679400-20686600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:20679800-20680800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:20679800-20688000	Weak transcription	NHDF-Ad	bronchial
40	chr3:20680800-20681400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:20681400-20686800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:20686600-20689800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:20686800-20687600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr3:20686800-20691600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:20687000-20687400	Enhancers	Aorta	Aorta
46	chr3:20687200-20687400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr3:20687200-20687400	Enhancers	NHLF	lung
48	chr3:20687400-20688600	Weak transcription	NHLF	lung
49	chr3:20687400-20693200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:20687600-20692400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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