Variant report

Variant	nsv876651
Chromosome Location	chr3:28774258-28823156
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:1)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:28769982..28772713-chr3:28775617..28777736,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZCWPW2-2	chr3:28798946-28800301	NONHSAT088796
2	lnc-ZCWPW2-2	chr3:28798600-28798732	ENSG00000228214.1
3	lnc-ZCWPW2-2	chr3:28798841-28799086	ENSG00000228214.1
4	lnc-ZCWPW2-3	chr3:28773845-28775292	l_2335_chr3:28592606-28775292_brain
5	lnc-ZCWPW2-2	chr3:28777500-28777654	ENSG00000228214.1
6	lnc-ZCWPW2-2	chr3:28798600-28798732	ENSG00000228214.1
7	lnc-ZCWPW2-2	chr3:28798841-28799028	ENSG00000228214.1

No data

Extended variants
information (count: 1654 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1654 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532924920	chr3:28774317-28774318	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs546172396	chr3:28774341-28774342	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs113083079	chr3:28774351-28774352	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs567879944	chr3:28774386-28774387	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs58150312	chr3:28774401-28774402	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550527102	chr3:28774415-28774416	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs529122073	chr3:28774416-28774417	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs558146301	chr3:28774461-28774462	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs186559867	chr3:28774474-28774475	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs568916555	chr3:28774514-28774515	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs189830424	chr3:28774587-28774588	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs34666610	chr3:28774608-28774609	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181006341	chr3:28774630-28774631	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs186289123	chr3:28774675-28774676	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs553377208	chr3:28774681-28774682	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs9884053	chr3:28774726-28774727	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs34386699	chr3:28774770-28774771	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs35908585	chr3:28774783-28774784	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140064072	chr3:28774804-28774805	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs191482150	chr3:28774840-28774841	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs200178169	chr3:28774859-28774860	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs78337586	chr3:28774860-28774861	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs564558911	chr3:28774921-28774922	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs533023035	chr3:28774932-28774933	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs2100847	chr3:28774938-28774939	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183240264	chr3:28774955-28774956	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs534444535	chr3:28774964-28774965	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs528866357	chr3:28774978-28774979	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs548815058	chr3:28774982-28774983	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs569127687	chr3:28774993-28774994	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs531544343	chr3:28775000-28775001	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs551534132	chr3:28775027-28775028	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs143635395	chr3:28775058-28775059	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs554212701	chr3:28775079-28775080	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs187411936	chr3:28775083-28775084	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs113616904	chr3:28775091-28775092	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs56102981	chr3:28775103-28775104	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs76339358	chr3:28775157-28775158	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs547126119	chr3:28775242-28775243	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs80329209	chr3:28775332-28775333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566826377	chr3:28775360-28775361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535846982	chr3:28775362-28775363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146790310	chr3:28775380-28775381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113192389	chr3:28775381-28775382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190663418	chr3:28775468-28775469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556884695	chr3:28775499-28775500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183230551	chr3:28775511-28775512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140465308	chr3:28775519-28775520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577055727	chr3:28775539-28775540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577829981	chr3:28775558-28775559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16618734	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28772400-28777600	Weak transcription	Aorta	Aorta
2	chr3:28777600-28778400	ZNF genes & repeats	Aorta	Aorta
3	chr3:28777600-28781600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:28778600-28779200	Weak transcription	Pancreas	Pancrea
5	chr3:28779600-28779800	Enhancers	Pancreas	Pancrea
6	chr3:28779800-28780000	Weak transcription	Aorta	Aorta
7	chr3:28780600-28781600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:28781000-28781400	Enhancers	Colon Smooth Muscle	Colon
9	chr3:28781000-28781800	Enhancers	Fetal Lung	lung
10	chr3:28781200-28781400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:28781200-28781600	Enhancers	HSMMtube	muscle
12	chr3:28781400-28781600	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr3:28781400-28781800	Enhancers	Fetal Brain Male	brain
14	chr3:28781400-28781800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr3:28781600-28781800	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr3:28781600-28781800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr3:28781600-28781800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr3:28781600-28784800	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:28781600-28785000	Weak transcription	HSMMtube	muscle
20	chr3:28781800-28784600	Weak transcription	Fetal Lung	lung
21	chr3:28781800-28784600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr3:28781800-28784600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:28781800-28785000	Weak transcription	Fetal Brain Male	brain
24	chr3:28781800-28785000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:28782200-28784600	Weak transcription	Left Ventricle	heart
26	chr3:28784600-28785200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr3:28784600-28785600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr3:28784600-28786200	Enhancers	Fetal Muscle Leg	muscle
29	chr3:28784600-28786200	Enhancers	Left Ventricle	heart
30	chr3:28784600-28786600	Enhancers	Psoas Muscle	Psoas
31	chr3:28784600-28788400	Enhancers	Fetal Lung	lung
32	chr3:28784800-28786400	Enhancers	Fetal Stomach	stomach
33	chr3:28785000-28785400	Enhancers	Aorta	Aorta
34	chr3:28785000-28785600	Enhancers	Fetal Brain Male	brain
35	chr3:28785000-28785600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr3:28785000-28786000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:28785000-28786200	Enhancers	Gastric	stomach
38	chr3:28785000-28786400	Enhancers	Liver	Liver
39	chr3:28785000-28787200	Enhancers	HSMMtube	muscle
40	chr3:28785000-28788000	Enhancers	NHEK	skin
41	chr3:28785200-28785400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr3:28785200-28787800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:28785400-28785600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:28785400-28785600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr3:28785400-28787600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:28785400-28788000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:28785400-28788000	Enhancers	Hela-S3	cervix
48	chr3:28785400-28788200	Enhancers	HUVEC	blood vessel
49	chr3:28785600-28785800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr3:28785600-28785800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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