Variant report

Variant	nsv876610
Chromosome Location	chr3:21345639-21424985
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:21388282..21390460-chr3:21398661..21400819,2	K562	blood:
2	chr3:21386176..21388301-chr3:21404995..21407589,2	K562	blood:
3	chr3:21357091..21358959-chr3:21367501..21369153,2	K562	blood:
4	chr3:21384888..21387310-chr3:21389573..21391520,2	K562	blood:
5	chr3:21386176..21388301-chr3:21404995..21407589,2	K562	blood:
6	chr3:21357091..21358959-chr3:21367501..21369153,2	K562	blood:
7	chr3:21388598..21390467-chr3:21391576..21393925,2	K562	blood:
8	chr3:21381102..21383225-chr3:21383828..21386655,2	MCF-7	breast:
9	chr3:21384888..21387310-chr3:21389573..21391520,2	K562	blood:
10	chr3:21381102..21383225-chr3:21383828..21386655,2	MCF-7	breast:
11	chr3:21388282..21390460-chr3:21398661..21400819,2	K562	blood:
12	chr3:21388598..21390467-chr3:21391576..21393925,2	K562	blood:

No data

Extended variants
information (count: 1006 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1006 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186097221	chr3:21351423-21351424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550173985	chr3:21351443-21351444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562098600	chr3:21351448-21351449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532908722	chr3:21351457-21351458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35329795	chr3:21351471-21351472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139516176	chr3:21351485-21351486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs58188140	chr3:21351486-21351487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551419617	chr3:21351514-21351515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566985683	chr3:21351573-21351574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188166999	chr3:21351603-21351604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369758661	chr3:21351622-21351623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13080495	chr3:21351637-21351638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568982738	chr3:21351753-21351754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35236988	chr3:21351762-21351763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs201981846	chr3:21351801-21351802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376062234	chr3:21351806-21351807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556599900	chr3:21351824-21351825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369832373	chr3:21351882-21351883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577940526	chr3:21351922-21351923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538792655	chr3:21351941-21351942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74931059	chr3:21351994-21351995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181010165	chr3:21351995-21351996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35860763	chr3:21352011-21352012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540029513	chr3:21352016-21352017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2731937	chr3:21352030-21352031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs4407418	chr3:21352048-21352049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2731936	chr3:21352050-21352051	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs78801294	chr3:21352068-21352069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145330047	chr3:21352083-21352084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4407419	chr3:21352089-21352090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4640588	chr3:21352099-21352100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560976252	chr3:21352120-21352121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532923926	chr3:21352163-21352164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544801811	chr3:21352321-21352322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370713734	chr3:21352323-21352324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560188066	chr3:21352345-21352346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2731935	chr3:21352383-21352384	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs549607232	chr3:21352431-21352432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199870687	chr3:21352436-21352437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143713433	chr3:21352449-21352450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201461367	chr3:21352454-21352455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199677205	chr3:21352456-21352457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs71823689	chr3:21352469-21352470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368880285	chr3:21352477-21352478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71044906	chr3:21352478-21352479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6765307	chr3:21352494-21352495	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs532065197	chr3:21352565-21352566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs207463033	chr3:21353824-21353825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572036667	chr3:21353833-21353834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533921681	chr3:21353850-21353851	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21351400-21352400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr3:21351400-21352400	Enhancers	NHDF-Ad	bronchial
3	chr3:21351400-21352600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:21351600-21352000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:21353800-21354200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:21355000-21355200	Enhancers	Esophagus	oesophagus
7	chr3:21355400-21355600	Enhancers	Aorta	Aorta
8	chr3:21355600-21360600	Weak transcription	Aorta	Aorta
9	chr3:21360600-21360800	Enhancers	Aorta	Aorta
10	chr3:21360800-21361600	Active TSS	Aorta	Aorta
11	chr3:21367400-21367800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr3:21367400-21369200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:21367600-21367800	Enhancers	Ovary	ovary
14	chr3:21367600-21369000	Enhancers	Brain Germinal Matrix	brain
15	chr3:21367600-21369200	Enhancers	NH-A	brain
16	chr3:21367600-21369800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:21367800-21368200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:21368000-21368800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr3:21368000-21369000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:21368200-21368400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr3:21368200-21368400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr3:21368200-21369000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr3:21368400-21368600	Enhancers	Fetal Brain Female	brain
24	chr3:21368400-21368800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:21368400-21369000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:21368400-21369200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:21368400-21369200	Enhancers	Fetal Brain Male	brain
28	chr3:21368400-21370000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr3:21368400-21371400	Weak transcription	Ovary	ovary
30	chr3:21368800-21369000	Enhancers	Fetal Lung	lung
31	chr3:21368800-21369800	Weak transcription	Fetal Brain Female	brain
32	chr3:21368800-21371200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr3:21369000-21370200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:21369000-21371200	Weak transcription	Brain Germinal Matrix	brain
35	chr3:21369000-21373600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:21369200-21370000	Weak transcription	Fetal Brain Male	brain
37	chr3:21369800-21370000	Enhancers	Fetal Brain Female	brain
38	chr3:21370000-21370200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr3:21370000-21370400	Flanking Active TSS	Fetal Brain Female	brain
40	chr3:21370000-21371600	Enhancers	Fetal Brain Male	brain
41	chr3:21370200-21370400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr3:21370400-21370600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:21370400-21370600	Active TSS	Fetal Brain Female	brain
44	chr3:21370400-21370600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr3:21370600-21370800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr3:21370600-21371000	Weak transcription	Fetal Brain Female	brain
47	chr3:21370600-21371400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr3:21370800-21371600	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr3:21371000-21371400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:21371000-21371800	Enhancers	Fetal Brain Female	brain

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