Variant report

Variant	nsv998906
Chromosome Location	chr3:21921707-21962293
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:21942258..21944994-chr3:21945829..21948153,2	K562	blood:
2	chr3:21939959..21942443-chr3:21956783..21959351,2	K562	blood:
3	chr3:20266881..20267830-chr3:21935770..21936618,4	MCF-7	breast:
4	chr3:21927265..21931115-chr3:21931720..21934482,3	K562	blood:
5	chr3:21922639..21924964-chr3:21928274..21929966,2	K562	blood:
6	chr3:21919005..21921576-chr3:21924260..21925811,2	K562	blood:
7	chr3:21948578..21950299-chr3:21951052..21953875,2	MCF-7	breast:
8	chr3:21525568..21526468-chr3:21935899..21936657,2	MCF-7	breast:
9	chr3:21946123..21950317-chr3:21950645..21954305,3	K562	blood:
10	chr3:21948578..21950299-chr3:21951052..21953875,2	MCF-7	breast:
11	chr3:21942258..21944994-chr3:21945829..21948153,2	K562	blood:
12	chr3:21793981..21794891-chr3:21935742..21936689,4	MCF-7	breast:
13	chr3:21922639..21924964-chr3:21928274..21929966,2	K562	blood:
14	chr3:21946123..21950317-chr3:21950645..21954305,3	K562	blood:
15	chr3:21954020..21955585-chr3:21957563..21959846,2	MCF-7	breast:
16	chr3:21939959..21942443-chr3:21956783..21959351,2	K562	blood:
17	chr3:20381543..20382061-chr3:21935726..21936559,2	MCF-7	breast:
18	chr3:21927265..21931115-chr3:21931720..21934482,3	K562	blood:
19	chr3:21954020..21955585-chr3:21957563..21959846,2	MCF-7	breast:

No data

Extended variants
information (count: 1923 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1923 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146695646	chr3:21921714-21921715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534422632	chr3:21921747-21921748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73820169	chr3:21921759-21921760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73146847	chr3:21921770-21921771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541841438	chr3:21921794-21921795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563125145	chr3:21921809-21921810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187402956	chr3:21921817-21921818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192100128	chr3:21921830-21921831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564678811	chr3:21921855-21921856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185670202	chr3:21921863-21921864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149941079	chr3:21921886-21921887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs779032	chr3:21921897-21921898	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs529354860	chr3:21921940-21921941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570375722	chr3:21921942-21921943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369471257	chr3:21921945-21921946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190619240	chr3:21921951-21921952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569157109	chr3:21921964-21921965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145076075	chr3:21921970-21921971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552148905	chr3:21921972-21921973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192481896	chr3:21921996-21921997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534534306	chr3:21921997-21921998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78000593	chr3:21922002-21922003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149119151	chr3:21922005-21922006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535193706	chr3:21922008-21922009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143196481	chr3:21922029-21922030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575089898	chr3:21922030-21922031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546490144	chr3:21922033-21922034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558459735	chr3:21922080-21922081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573556756	chr3:21922089-21922090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111885444	chr3:21922098-21922099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562258338	chr3:21922108-21922109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574635209	chr3:21922112-21922113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565655	chr3:21922124-21922125	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs369597554	chr3:21922155-21922156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543490679	chr3:21922165-21922166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544335284	chr3:21922211-21922212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75383514	chr3:21922225-21922226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141555840	chr3:21922230-21922231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552076422	chr3:21922234-21922235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184282396	chr3:21922264-21922265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74826885	chr3:21922279-21922280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77662473	chr3:21922361-21922362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568115860	chr3:21922362-21922363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559116387	chr3:21922369-21922370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535545427	chr3:21922375-21922376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188557649	chr3:21922380-21922381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9822820	chr3:21922390-21922391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs115585776	chr3:21922401-21922402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557771494	chr3:21922410-21922411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77920059	chr3:21922434-21922435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Melanoma	20688739	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21920400-21923000	Enhancers	Fetal Lung	lung
2	chr3:21922000-21927800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:21923000-21923600	Weak transcription	Fetal Lung	lung
4	chr3:21923600-21923800	Enhancers	Fetal Lung	lung
5	chr3:21929800-21931000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:21930400-21930800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:21930800-21940000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:21932800-21933200	Enhancers	Fetal Lung	lung
9	chr3:21933000-21933200	Enhancers	Fetal Kidney	kidney
10	chr3:21933200-21935800	Weak transcription	Fetal Kidney	kidney
11	chr3:21933200-21936200	Weak transcription	Fetal Lung	lung
12	chr3:21934000-21934400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:21934400-21934800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr3:21934400-21935200	Enhancers	Fetal Heart	heart
15	chr3:21934600-21934800	Enhancers	NHLF	lung
16	chr3:21934600-21935000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:21934600-21935200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:21934600-21935200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:21934600-21935200	Enhancers	HSMM	muscle
20	chr3:21934600-21935200	Enhancers	HSMMtube	muscle
21	chr3:21934600-21935400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:21934600-21936000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:21934800-21935000	Enhancers	NHDF-Ad	bronchial
24	chr3:21935200-21936200	Weak transcription	Fetal Heart	heart
25	chr3:21935200-21936200	Weak transcription	HSMMtube	muscle
26	chr3:21935800-21936400	Enhancers	Fetal Kidney	kidney
27	chr3:21936200-21936400	Enhancers	Fetal Lung	lung
28	chr3:21936200-21936400	Enhancers	HSMMtube	muscle
29	chr3:21936200-21936600	Enhancers	Fetal Brain Female	brain
30	chr3:21936200-21936800	Enhancers	Fetal Heart	heart
31	chr3:21937600-21937800	Enhancers	NHDF-Ad	bronchial
32	chr3:21938000-21938800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr3:21940000-21940600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:21940200-21940600	Enhancers	Fetal Stomach	stomach
35	chr3:21940600-21941200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:21942800-21943400	Enhancers	Liver	Liver
37	chr3:21943000-21943600	Enhancers	Hela-S3	cervix
38	chr3:21947000-21947200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr3:21947200-21948000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:21948000-21948400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr3:21948400-21950000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:21950000-21950800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr3:21950600-21951400	Enhancers	Fetal Lung	lung
44	chr3:21951400-21953800	Weak transcription	Fetal Lung	lung
45	chr3:21953800-21955400	Enhancers	Colon Smooth Muscle	Colon
46	chr3:21953800-21956800	Enhancers	Fetal Lung	lung
47	chr3:21954000-21954200	Enhancers	Placenta Amnion	Placenta Amnion
48	chr3:21954000-21954800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr3:21954000-21955400	Enhancers	NH-A	brain
50	chr3:21954000-21955600	Enhancers	Fetal Muscle Leg	muscle

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