Variant report

Variant	nsv876623
Chromosome Location	chr3:22473729-22571896
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:22531342..22533092-chr3:22535706..22538633,2	K562	blood:
2	chr3:22531582..22534400-chr3:23151408..23153228,2	K562	blood:
3	chr3:22501026..22503450-chr3:22509731..22511752,2	K562	blood:
4	chr3:22527480..22530262-chr3:22542907..22545144,2	K562	blood:
5	chr3:22531342..22533092-chr3:22535706..22538633,2	K562	blood:
6	chr3:22499125..22501406-chr3:22508186..22509688,2	K562	blood:
7	chr3:22501026..22503450-chr3:22509731..22511752,2	K562	blood:
8	chr3:22499125..22501406-chr3:22508186..22509688,2	K562	blood:
9	chr3:22527480..22530262-chr3:22542907..22545144,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF385D-2	chr3:22495716-22495905	l_2331_chr3:22495715-22498151_testes
2	lnc-ZNF385D-2	chr3:22498045-22498151	l_2331_chr3:22495715-22498151_testes

No data

Extended variants
information (count: 1327 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1327 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545272936	chr3:22491403-22491404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149872977	chr3:22491440-22491441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555117011	chr3:22491452-22491453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183760501	chr3:22491477-22491478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564758024	chr3:22491509-22491510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186603194	chr3:22491532-22491533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530346049	chr3:22491543-22491544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192301682	chr3:22491561-22491562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535705954	chr3:22491567-22491568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555838541	chr3:22491568-22491569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540778314	chr3:22491578-22491579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373646603	chr3:22491580-22491581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73043289	chr3:22491609-22491610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541539433	chr3:22491632-22491633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7611770	chr3:22491634-22491635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs572414774	chr3:22491659-22491660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139861352	chr3:22491663-22491664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143319801	chr3:22491673-22491674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549925348	chr3:22491675-22491676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368499886	chr3:22491721-22491722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77115536	chr3:22491742-22491743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371855013	chr3:22491773-22491774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183847428	chr3:22491785-22491786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555241892	chr3:22491812-22491813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533236914	chr3:22491822-22491823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550383065	chr3:22491890-22491891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563791312	chr3:22491943-22491944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372025988	chr3:22491944-22491945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7636983	chr3:22491954-22491955	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs34011556	chr3:22491961-22491962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186947790	chr3:22491983-22491984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565983006	chr3:22492030-22492031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11918893	chr3:22492035-22492036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs146696275	chr3:22492058-22492059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148867591	chr3:22492061-22492062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537821447	chr3:22492131-22492132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556176090	chr3:22492184-22492185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577849511	chr3:22492240-22492241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538731872	chr3:22492265-22492266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142627939	chr3:22492277-22492278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376676867	chr3:22492278-22492279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542571165	chr3:22492280-22492281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368573532	chr3:22492307-22492308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561207257	chr3:22492311-22492312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151004113	chr3:22492323-22492324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140901084	chr3:22492334-22492335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117399783	chr3:22492350-22492351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533297128	chr3:22492374-22492375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201959010	chr3:22492375-22492376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146348798	chr3:22492378-22492379	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22491400-22492800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:22491400-22493400	Enhancers	Thymus	Thymus
3	chr3:22491400-22493800	Enhancers	Dnd41	blood
4	chr3:22491400-22497000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:22491800-22493400	Enhancers	Fetal Lung	lung
6	chr3:22491800-22493800	Enhancers	Primary hematopoietic stem cells	blood
7	chr3:22492000-22492600	Enhancers	Fetal Stomach	stomach
8	chr3:22492000-22493400	Enhancers	Fetal Thymus	thymus
9	chr3:22492200-22492400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:22492200-22492600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:22492200-22493000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:22492200-22493200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:22492200-22493400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr3:22492400-22492800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:22492600-22493200	Enhancers	Adipose Nuclei	Adipose
16	chr3:22492800-22493200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:22492800-22493400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:22493200-22494800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:22493200-22494800	Weak transcription	Adipose Nuclei	Adipose
20	chr3:22493200-22497200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:22493400-22494800	Weak transcription	Fetal Thymus	thymus
22	chr3:22493400-22495000	Weak transcription	Fetal Lung	lung
23	chr3:22493400-22495000	Weak transcription	Thymus	Thymus
24	chr3:22493800-22495000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:22494800-22495200	Enhancers	Fetal Thymus	thymus
26	chr3:22494800-22496000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:22494800-22496000	Enhancers	Adipose Nuclei	Adipose
28	chr3:22495000-22495800	Enhancers	Primary hematopoietic stem cells	blood
29	chr3:22495000-22495800	Enhancers	Thymus	Thymus
30	chr3:22495000-22497000	Enhancers	Fetal Lung	lung
31	chr3:22497200-22498200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:22498200-22498400	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr3:22499000-22499200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr3:22499200-22499400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:22510400-22512000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:22510600-22512200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:22511400-22511800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr3:22511800-22517200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr3:22512000-22515800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:22512200-22514600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:22513600-22514200	Enhancers	Brain Germinal Matrix	brain
42	chr3:22514600-22517600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:22515000-22515200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:22515000-22515200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:22515200-22516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:22515400-22516000	Enhancers	HSMMtube	muscle
47	chr3:22515400-22516400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr3:22515400-22517000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr3:22515400-22517600	Enhancers	NH-A	brain
50	chr3:22515600-22516000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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