Variant report

Variant	nsv998002
Chromosome Location	chr3:28208676-28252031
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	chr3:28212981..28215609-chr3:28218881..28221720,2	MCF-7	breast:
2	chr3:28235643..28237706-chr3:28280432..28283364,3	K562	blood:
3	chr3:28239745..28241981-chr3:28283804..28285570,2	K562	blood:
4	chr3:28206434..28209003-chr3:28281528..28284368,2	K562	blood:
5	chr3:28213116..28215306-chr3:28216134..28218129,2	K562	blood:
6	chr3:28229816..28231619-chr3:28235238..28237860,2	K562	blood:
7	chr3:28248454..28250758-chr3:28282899..28284514,2	MCF-7	breast:
8	chr3:28229816..28231619-chr3:28235238..28237860,2	K562	blood:
9	chr3:28240370..28242783-chr3:28390066..28391575,2	K562	blood:
10	chr3:28248375..28250346-chr3:28255227..28257303,2	MCF-7	breast:
11	chr3:28216893..28219408-chr3:28288300..28290033,2	MCF-7	breast:
12	chr3:28169278..28172035-chr3:28217346..28218936,2	K562	blood:
13	chr3:28213116..28215306-chr3:28216134..28218129,2	K562	blood:
14	chr3:28212981..28215609-chr3:28218881..28221720,2	MCF-7	breast:
15	chr3:28232370..28234872-chr3:28235014..28237242,2	K562	blood:
16	chr3:28232370..28234872-chr3:28235014..28237242,2	K562	blood:
17	chr3:28235291..28239535-chr3:28281100..28284178,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000187118	chromatin interactions
ENSG00000163512	chromatin interactions
ENSG00000206559	chromatin interactions

Extended variants
information (count: 807 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:807 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188208696	chr3:28208690-28208691	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138092531	chr3:28208697-28208698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs536876262	chr3:28208725-28208726	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556563794	chr3:28208726-28208727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570295303	chr3:28208749-28208750	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539361161	chr3:28208799-28208800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560539436	chr3:28208806-28208807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534231283	chr3:28208819-28208820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs143599863	chr3:28208847-28208848	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73822535	chr3:28208853-28208854	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145308913	chr3:28212608-28212609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs55791425	chr3:28212658-28212659	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs17021185	chr3:28212667-28212668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183638632	chr3:28212671-28212672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575835130	chr3:28212703-28212704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187998576	chr3:28212719-28212720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564466536	chr3:28212753-28212754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193270801	chr3:28212757-28212758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185463007	chr3:28212779-28212780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560116254	chr3:28212796-28212797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528935581	chr3:28212797-28212798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576720252	chr3:28212798-28212799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543306953	chr3:28212847-28212848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9870628	chr3:28212860-28212861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531585098	chr3:28212907-28212908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111235122	chr3:28212909-28212910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551681334	chr3:28212935-28212936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571530870	chr3:28212937-28212938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534100240	chr3:28212955-28212956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143108660	chr3:28213042-28213043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78083892	chr3:28213049-28213050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368092032	chr3:28213054-28213055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190366119	chr3:28213061-28213062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181688123	chr3:28213062-28213063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184328065	chr3:28213078-28213079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538084495	chr3:28213116-28213117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148337584	chr3:28213172-28213173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577889646	chr3:28213234-28213235	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs374376926	chr3:28213313-28213314	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs540528221	chr3:28213315-28213316	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs562913804	chr3:28213317-28213318	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs188688952	chr3:28213388-28213389	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs531564306	chr3:28213389-28213390	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs551481930	chr3:28213406-28213407	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs542356084	chr3:28213407-28213408	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs562632914	chr3:28213416-28213417	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs140494191	chr3:28213467-28213468	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs551572754	chr3:28213533-28213534	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs565074382	chr3:28213560-28213561	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs566248587	chr3:28213620-28213621	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16618734	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28212600-28213600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:28212600-28213800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:28212800-28213200	Enhancers	Dnd41	blood
4	chr3:28212800-28213400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr3:28212800-28213600	Enhancers	Primary T cells from cord blood	blood
6	chr3:28212800-28214800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr3:28213000-28213400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr3:28213000-28214600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:28213200-28213400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr3:28213200-28213800	Flanking Active TSS	Dnd41	blood
11	chr3:28213200-28214600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr3:28213200-28214800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr3:28213400-28213800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr3:28213400-28213800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr3:28213400-28213800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:28213400-28213800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:28213400-28214000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr3:28213400-28214000	Enhancers	Liver	Liver
19	chr3:28213400-28214000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr3:28213400-28214200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr3:28213400-28214400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:28213400-28214600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr3:28213400-28214800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:28213600-28214000	Enhancers	Primary B cells from cord blood	blood
25	chr3:28213600-28214200	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr3:28213800-28214800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr3:28213800-28214800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr3:28213800-28214800	Enhancers	Dnd41	blood
29	chr3:28214000-28214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:28214000-28214600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr3:28214200-28214800	Enhancers	Primary T cells from cord blood	blood
32	chr3:28214400-28214800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr3:28216600-28217000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:28227400-28228200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:28227600-28228000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr3:28227600-28228000	Enhancers	Primary hematopoietic stem cells	blood
37	chr3:28227600-28228200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:28227800-28228000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr3:28227800-28228200	Enhancers	Colon Smooth Muscle	Colon
40	chr3:28227800-28228200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr3:28227800-28229000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr3:28229000-28231800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr3:28229800-28230200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:28229800-28230200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr3:28231800-28233600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr3:28232600-28233400	Enhancers	Osteobl	bone
47	chr3:28241000-28241200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:28241200-28242000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr3:28241800-28242200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr3:28241800-28242200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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