Variant report

Variant	nsv876609
Chromosome Location	chr3:21337956-21424985
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	chr3:21381102..21383225-chr3:21383828..21386655,2	MCF-7	breast:
2	chr3:21384888..21387310-chr3:21389573..21391520,2	K562	blood:
3	chr3:21384888..21387310-chr3:21389573..21391520,2	K562	blood:
4	chr3:21388282..21390460-chr3:21398661..21400819,2	K562	blood:
5	chr3:21357091..21358959-chr3:21367501..21369153,2	K562	blood:
6	chr3:21388598..21390467-chr3:21391576..21393925,2	K562	blood:
7	chr3:21388598..21390467-chr3:21391576..21393925,2	K562	blood:
8	chr3:21357091..21358959-chr3:21367501..21369153,2	K562	blood:
9	chr3:21388282..21390460-chr3:21398661..21400819,2	K562	blood:
10	chr3:21386176..21388301-chr3:21404995..21407589,2	K562	blood:
11	chr3:21386176..21388301-chr3:21404995..21407589,2	K562	blood:
12	chr3:21381102..21383225-chr3:21383828..21386655,2	MCF-7	breast:

No data

Extended variants
information (count: 1223 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1223 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1436822	chr3:21337956-21337957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13060594	chr3:21337983-21337984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1436823	chr3:21338062-21338063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542645888	chr3:21338066-21338067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1836953	chr3:21338127-21338128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188173475	chr3:21338212-21338213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541579347	chr3:21338225-21338226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563359439	chr3:21338280-21338281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551236603	chr3:21338346-21338347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531042962	chr3:21338385-21338386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73133129	chr3:21338397-21338398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181017874	chr3:21338435-21338436	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs6795794	chr3:21338458-21338459	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528770679	chr3:21338477-21338478	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs114691716	chr3:21338478-21338479	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs568138568	chr3:21338500-21338501	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs117384139	chr3:21338506-21338507	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550830349	chr3:21338516-21338517	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs569312750	chr3:21338573-21338574	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs35236254	chr3:21338647-21338648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs560432362	chr3:21338748-21338749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111543540	chr3:21338749-21338750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570619655	chr3:21338759-21338760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185045221	chr3:21338773-21338774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149099988	chr3:21338783-21338784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574497440	chr3:21338791-21338792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375709116	chr3:21338804-21338805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541790280	chr3:21338808-21338809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556828771	chr3:21338809-21338810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575290471	chr3:21338811-21338812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545542877	chr3:21338815-21338816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564344304	chr3:21338818-21338819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528636359	chr3:21338847-21338848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540540445	chr3:21338884-21338885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142233143	chr3:21338916-21338917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71618848	chr3:21338959-21338960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562029117	chr3:21338972-21338973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376250350	chr3:21339015-21339016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142110688	chr3:21339017-21339018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529298786	chr3:21339034-21339035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549049785	chr3:21339042-21339043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550950254	chr3:21339044-21339045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57509717	chr3:21339070-21339071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568967068	chr3:21339097-21339098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531445589	chr3:21339116-21339117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201458060	chr3:21339130-21339131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112353005	chr3:21339136-21339137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200670549	chr3:21339137-21339138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57323505	chr3:21339187-21339188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397755441	chr3:21339193-21339194	Weak transcription	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:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21336400-21342200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:21337000-21338400	Weak transcription	Esophagus	oesophagus
3	chr3:21338400-21338600	ZNF genes & repeats	Esophagus	oesophagus
4	chr3:21342200-21342600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:21351400-21352400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:21351400-21352400	Enhancers	NHDF-Ad	bronchial
7	chr3:21351400-21352600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:21351600-21352000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:21353800-21354200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:21355000-21355200	Enhancers	Esophagus	oesophagus
11	chr3:21355400-21355600	Enhancers	Aorta	Aorta
12	chr3:21355600-21360600	Weak transcription	Aorta	Aorta
13	chr3:21360600-21360800	Enhancers	Aorta	Aorta
14	chr3:21360800-21361600	Active TSS	Aorta	Aorta
15	chr3:21367400-21367800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr3:21367400-21369200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:21367600-21367800	Enhancers	Ovary	ovary
18	chr3:21367600-21369000	Enhancers	Brain Germinal Matrix	brain
19	chr3:21367600-21369200	Enhancers	NH-A	brain
20	chr3:21367600-21369800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:21367800-21368200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr3:21368000-21368800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr3:21368000-21369000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:21368200-21368400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:21368200-21368400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr3:21368200-21369000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr3:21368400-21368600	Enhancers	Fetal Brain Female	brain
28	chr3:21368400-21368800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:21368400-21369000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:21368400-21369200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:21368400-21369200	Enhancers	Fetal Brain Male	brain
32	chr3:21368400-21370000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:21368400-21371400	Weak transcription	Ovary	ovary
34	chr3:21368800-21369000	Enhancers	Fetal Lung	lung
35	chr3:21368800-21369800	Weak transcription	Fetal Brain Female	brain
36	chr3:21368800-21371200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:21369000-21370200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:21369000-21371200	Weak transcription	Brain Germinal Matrix	brain
39	chr3:21369000-21373600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:21369200-21370000	Weak transcription	Fetal Brain Male	brain
41	chr3:21369800-21370000	Enhancers	Fetal Brain Female	brain
42	chr3:21370000-21370200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr3:21370000-21370400	Flanking Active TSS	Fetal Brain Female	brain
44	chr3:21370000-21371600	Enhancers	Fetal Brain Male	brain
45	chr3:21370200-21370400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr3:21370400-21370600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:21370400-21370600	Active TSS	Fetal Brain Female	brain
48	chr3:21370400-21370600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr3:21370600-21370800	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr3:21370600-21371000	Weak transcription	Fetal Brain Female	brain

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