Variant report

Variant	nsv1014821
Chromosome Location	chr3:21929218-21962293
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:20381543..20382061-chr3:21935726..21936559,2	MCF-7	breast:
2	chr3:21948578..21950299-chr3:21951052..21953875,2	MCF-7	breast:
3	chr3:21793981..21794891-chr3:21935742..21936689,4	MCF-7	breast:
4	chr3:21927265..21931115-chr3:21931720..21934482,3	K562	blood:
5	chr3:21525568..21526468-chr3:21935899..21936657,2	MCF-7	breast:
6	chr3:21954020..21955585-chr3:21957563..21959846,2	MCF-7	breast:
7	chr3:21954020..21955585-chr3:21957563..21959846,2	MCF-7	breast:
8	chr3:21942258..21944994-chr3:21945829..21948153,2	K562	blood:
9	chr3:21927265..21931115-chr3:21931720..21934482,3	K562	blood:
10	chr3:21922639..21924964-chr3:21928274..21929966,2	K562	blood:
11	chr3:21942258..21944994-chr3:21945829..21948153,2	K562	blood:
12	chr3:21939959..21942443-chr3:21956783..21959351,2	K562	blood:
13	chr3:21948578..21950299-chr3:21951052..21953875,2	MCF-7	breast:
14	chr3:20266881..20267830-chr3:21935770..21936618,4	MCF-7	breast:
15	chr3:21946123..21950317-chr3:21950645..21954305,3	K562	blood:
16	chr3:21939959..21942443-chr3:21956783..21959351,2	K562	blood:
17	chr3:21946123..21950317-chr3:21950645..21954305,3	K562	blood:

No data

Extended variants
information (count: 1559 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1559 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546392785	chr3:21929830-21929831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576280086	chr3:21929858-21929859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564439428	chr3:21929859-21929860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148715932	chr3:21929880-21929881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540271475	chr3:21929885-21929886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192266174	chr3:21929898-21929899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529977275	chr3:21929900-21929901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142293365	chr3:21929916-21929917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563170278	chr3:21929918-21929919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530638196	chr3:21929959-21929960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552311889	chr3:21930057-21930058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368171008	chr3:21930061-21930062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185007583	chr3:21930068-21930069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187976448	chr3:21930069-21930070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151269583	chr3:21930070-21930071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140511385	chr3:21930086-21930087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79081901	chr3:21930103-21930104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557710025	chr3:21930142-21930143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17009960	chr3:21930174-21930175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs193196563	chr3:21930199-21930200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372076248	chr3:21930202-21930203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17009963	chr3:21930224-21930225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558284440	chr3:21930225-21930226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146596203	chr3:21930232-21930233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552485179	chr3:21930254-21930255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13319106	chr3:21930263-21930264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184372072	chr3:21930278-21930279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565913127	chr3:21930296-21930297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375099508	chr3:21930315-21930316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141354526	chr3:21930324-21930325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189470679	chr3:21930325-21930326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17009967	chr3:21930331-21930332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530674266	chr3:21930332-21930333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181827466	chr3:21930360-21930361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564299743	chr3:21930412-21930413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528210628	chr3:21930465-21930466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574830192	chr3:21930508-21930509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375635673	chr3:21930510-21930511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546655415	chr3:21930526-21930527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145136536	chr3:21930536-21930537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528914344	chr3:21930547-21930548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183840497	chr3:21930553-21930554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550555789	chr3:21930590-21930591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73820170	chr3:21930597-21930598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562454554	chr3:21930599-21930600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115129049	chr3:21930619-21930620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540122484	chr3:21930627-21930628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558108201	chr3:21930644-21930645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs259533	chr3:21930659-21930660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567037916	chr3:21930667-21930668	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21929800-21931000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr3:21930400-21930800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:21930800-21940000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:21932800-21933200	Enhancers	Fetal Lung	lung
5	chr3:21933000-21933200	Enhancers	Fetal Kidney	kidney
6	chr3:21933200-21935800	Weak transcription	Fetal Kidney	kidney
7	chr3:21933200-21936200	Weak transcription	Fetal Lung	lung
8	chr3:21934000-21934400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:21934400-21934800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr3:21934400-21935200	Enhancers	Fetal Heart	heart
11	chr3:21934600-21934800	Enhancers	NHLF	lung
12	chr3:21934600-21935000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:21934600-21935200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:21934600-21935200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:21934600-21935200	Enhancers	HSMM	muscle
16	chr3:21934600-21935200	Enhancers	HSMMtube	muscle
17	chr3:21934600-21935400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:21934600-21936000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:21934800-21935000	Enhancers	NHDF-Ad	bronchial
20	chr3:21935200-21936200	Weak transcription	Fetal Heart	heart
21	chr3:21935200-21936200	Weak transcription	HSMMtube	muscle
22	chr3:21935800-21936400	Enhancers	Fetal Kidney	kidney
23	chr3:21936200-21936400	Enhancers	Fetal Lung	lung
24	chr3:21936200-21936400	Enhancers	HSMMtube	muscle
25	chr3:21936200-21936600	Enhancers	Fetal Brain Female	brain
26	chr3:21936200-21936800	Enhancers	Fetal Heart	heart
27	chr3:21937600-21937800	Enhancers	NHDF-Ad	bronchial
28	chr3:21938000-21938800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr3:21940000-21940600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:21940200-21940600	Enhancers	Fetal Stomach	stomach
31	chr3:21940600-21941200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:21942800-21943400	Enhancers	Liver	Liver
33	chr3:21943000-21943600	Enhancers	Hela-S3	cervix
34	chr3:21947000-21947200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr3:21947200-21948000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:21948000-21948400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr3:21948400-21950000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:21950000-21950800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr3:21950600-21951400	Enhancers	Fetal Lung	lung
40	chr3:21951400-21953800	Weak transcription	Fetal Lung	lung
41	chr3:21953800-21955400	Enhancers	Colon Smooth Muscle	Colon
42	chr3:21953800-21956800	Enhancers	Fetal Lung	lung
43	chr3:21954000-21954200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr3:21954000-21954800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr3:21954000-21955400	Enhancers	NH-A	brain
46	chr3:21954000-21955600	Enhancers	Fetal Muscle Leg	muscle
47	chr3:21954000-21955600	Enhancers	NHLF	lung
48	chr3:21954000-21955800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:21954000-21956600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr3:21954000-21956600	Enhancers	NHDF-Ad	bronchial

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