Variant report

Variant	nsv589938
Chromosome Location	chr3:22231144-22372453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:22202679..22204689-chr3:22233994..22235730,2	K562	blood:
2	chr3:22339328..22340955-chr3:22342390..22345149,2	K562	blood:
3	chr3:22269821..22272755-chr3:22274788..22276504,2	MCF-7	breast:
4	chr3:22282412..22284259-chr3:22284738..22287975,3	MCF-7	breast:
5	chr3:22282412..22284259-chr3:22284738..22287975,3	MCF-7	breast:
6	chr3:22269821..22272755-chr3:22274788..22276504,2	MCF-7	breast:
7	chr3:22339328..22340955-chr3:22342390..22345149,2	K562	blood:

Extended variants
information (count: 3602 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:3602 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540067301	chr3:22236025-22236026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556827703	chr3:22236035-22236036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561635964	chr3:22236042-22236043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529152314	chr3:22236060-22236061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181143317	chr3:22236070-22236071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9882332	chr3:22236088-22236089	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2955644	chr3:22236099-22236100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552693119	chr3:22236125-22236126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185942843	chr3:22236154-22236155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544364192	chr3:22236156-22236157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75058788	chr3:22236162-22236163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369037265	chr3:22236183-22236184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112935128	chr3:22236194-22236195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561464996	chr3:22236205-22236206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553637637	chr3:22236250-22236251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568572931	chr3:22236275-22236276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536116116	chr3:22236285-22236286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564235136	chr3:22236297-22236298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200563613	chr3:22236321-22236322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138206973	chr3:22236334-22236335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149577244	chr3:22236343-22236344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575134582	chr3:22236346-22236347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545528914	chr3:22236361-22236362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532677049	chr3:22236371-22236372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190617965	chr3:22236390-22236391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576566197	chr3:22239038-22239039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182257494	chr3:22239046-22239047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146712746	chr3:22239063-22239064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186045407	chr3:22239068-22239069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541059325	chr3:22239078-22239079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559169988	chr3:22239123-22239124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529763778	chr3:22239127-22239128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374421474	chr3:22239128-22239129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568205543	chr3:22239129-22239130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533141484	chr3:22239142-22239143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541579405	chr3:22239178-22239179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563449389	chr3:22239197-22239198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545508655	chr3:22240427-22240428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536251421	chr3:22240445-22240446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563909979	chr3:22240468-22240469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141608784	chr3:22240477-22240478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373027565	chr3:22240490-22240491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540512454	chr3:22240494-22240495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561880432	chr3:22240498-22240499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530084351	chr3:22240503-22240504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs60680940	chr3:22240537-22240538	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147063286	chr3:22240538-22240539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138457057	chr3:22240548-22240549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556564356	chr3:22240585-22240586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552709418	chr3:22240619-22240620	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22236000-22236400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:22239000-22239200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:22240400-22241000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:22240600-22241000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:22240600-22241200	Enhancers	Fetal Lung	lung
6	chr3:22241200-22251600	Weak transcription	Fetal Lung	lung
7	chr3:22251600-22251800	Enhancers	Fetal Lung	lung
8	chr3:22257400-22258800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:22257600-22257800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:22257800-22258400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:22258000-22258200	Enhancers	Adipose Nuclei	Adipose
12	chr3:22258000-22258400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:22258200-22258600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr3:22258200-22259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:22258400-22258600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:22258600-22258800	Enhancers	Adipose Nuclei	Adipose
17	chr3:22258600-22259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:22266600-22267000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:22266600-22267000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:22266600-22267200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:22266800-22267000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:22267000-22269200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:22268000-22278400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:22269000-22270200	ZNF genes & repeats	Aorta	Aorta
25	chr3:22271200-22271400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:22271400-22272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:22272400-22273400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr3:22272600-22273000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:22272800-22273200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:22278200-22278400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:22278400-22278800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:22278400-22279200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:22278800-22280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:22279200-22280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:22280400-22280800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:22280600-22280800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:22284600-22286200	Weak transcription	NHDF-Ad	bronchial
38	chr3:22285600-22287400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:22286000-22287600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:22286200-22286800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:22286200-22287600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr3:22286200-22287600	Enhancers	Fetal Stomach	stomach
43	chr3:22286200-22287600	Enhancers	HMEC	breast
44	chr3:22286200-22287600	Enhancers	NHDF-Ad	bronchial
45	chr3:22286200-22287600	Enhancers	NHLF	lung
46	chr3:22286200-22288000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:22286200-22288000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:22286400-22286600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:22286400-22286600	Enhancers	HSMMtube	muscle
50	chr3:22286400-22286800	Enhancers	Adipose Nuclei	Adipose

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