Variant report

Variant	nsv980010
Chromosome Location	chr3:17756625-17760941
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:17758733..17761274-chr3:17782397..17784086,2	MCF-7	breast:
2	chr3:17756543..17761197-chr3:17782233..17784855,6	MCF-7	breast:
3	chr3:17755313..17757600-chr3:17763097..17765739,2	MCF-7	breast:
4	chr3:17747018..17749976-chr3:17753011..17756693,4	MCF-7	breast:
5	chr3:17748459..17751783-chr3:17756414..17759059,3	K562	blood:
6	chr3:17758395..17761068-chr3:17761765..17764577,2	MCF-7	breast:
7	chr3:17752527..17754058-chr3:17756146..17757899,2	K562	blood:
8	chr3:17760207..17762271-chr3:17765982..17768096,2	K562	blood:
9	chr3:17760132..17763038-chr3:17782626..17784165,2	K562	blood:
10	chr3:17753992..17758136-chr3:17779432..17782585,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLCL2-10	chr3:17759376-17759614	l_2325_chr3:17759375-17762161_testes

No data

Variant related genes	Relation type
ENSG00000131374	chromatin interactions
ENSG00000233133	chromatin interactions

Extended variants
information (count: 174 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73170858	chr3:17756631-17756632	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543051153	chr3:17756643-17756644	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs193138123	chr3:17756711-17756712	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143236898	chr3:17756726-17756727	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528291984	chr3:17756739-17756740	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185612005	chr3:17756744-17756745	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139327218	chr3:17756762-17756763	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571411186	chr3:17756805-17756806	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537375238	chr3:17756836-17756837	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564263139	chr3:17756939-17756940	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533076726	chr3:17756965-17756966	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375771762	chr3:17756993-17756994	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs116933218	chr3:17757017-17757018	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs9681893	chr3:17757024-17757025	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536221924	chr3:17757032-17757033	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs149982532	chr3:17757090-17757091	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs572806963	chr3:17757119-17757120	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144199653	chr3:17757150-17757151	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558109919	chr3:17757166-17757167	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566765430	chr3:17757209-17757210	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577801421	chr3:17757305-17757306	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373446067	chr3:17757306-17757307	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189321201	chr3:17757320-17757321	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs542607901	chr3:17757333-17757334	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559695567	chr3:17757336-17757337	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528619512	chr3:17757417-17757418	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535832217	chr3:17757421-17757422	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192180637	chr3:17757455-17757456	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370824711	chr3:17757499-17757500	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374615056	chr3:17757500-17757501	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs60535736	chr3:17757501-17757502	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112441853	chr3:17757502-17757503	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184352420	chr3:17757511-17757512	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375904913	chr3:17757571-17757572	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550907196	chr3:17757580-17757581	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541768650	chr3:17757592-17757593	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs188852872	chr3:17757593-17757594	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536258350	chr3:17757599-17757600	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs80065769	chr3:17757605-17757606	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566457024	chr3:17757607-17757608	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181265821	chr3:17757639-17757640	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs578088731	chr3:17757654-17757655	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577838446	chr3:17757674-17757675	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537214974	chr3:17757677-17757678	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs561691721	chr3:17757711-17757712	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557234095	chr3:17757814-17757815	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs186085743	chr3:17757823-17757824	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534247998	chr3:17757832-17757833	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543295764	chr3:17757836-17757837	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143443701	chr3:17757842-17757843	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	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
Breast cancer	21364760	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17747000-17756800	Weak transcription	Colonic Mucosa	Colon
2	chr3:17752000-17762000	Weak transcription	Right Ventricle	heart
3	chr3:17753800-17758200	ZNF genes & repeats	GM12878-XiMat	blood
4	chr3:17755000-17757600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:17755000-17757800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
6	chr3:17755200-17757000	ZNF genes & repeats	Brain Hippocampus Middle	brain
7	chr3:17755200-17757000	ZNF genes & repeats	Psoas Muscle	Psoas
8	chr3:17755200-17757200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr3:17755200-17757200	ZNF genes & repeats	Liver	Liver
10	chr3:17755200-17757600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
11	chr3:17755200-17757800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr3:17755200-17757800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:17755200-17757800	ZNF genes & repeats	Fetal Muscle Leg	muscle
14	chr3:17755200-17758000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:17755200-17758000	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr3:17755200-17759800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:17755200-17771800	Weak transcription	Brain Angular Gyrus	brain
18	chr3:17755400-17757000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:17755400-17757200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:17755400-17757200	ZNF genes & repeats	Fetal Intestine Large	intestine
21	chr3:17755400-17757200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
22	chr3:17755400-17757200	ZNF genes & repeats	A549	lung
23	chr3:17755400-17757400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:17755400-17757400	ZNF genes & repeats	Fetal Lung	lung
25	chr3:17755400-17757600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:17755400-17757600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
27	chr3:17755400-17757800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:17755400-17758000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:17755400-17758000	ZNF genes & repeats	Dnd41	blood
30	chr3:17755400-17758400	ZNF genes & repeats	Primary T cells from cord blood	blood
31	chr3:17755400-17781600	Weak transcription	Pancreas	Pancrea
32	chr3:17755600-17756800	ZNF genes & repeats	Fetal Brain Female	brain
33	chr3:17755600-17757200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:17755600-17757200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr3:17755600-17757200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
36	chr3:17755600-17757200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
37	chr3:17755600-17757200	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr3:17755600-17757200	ZNF genes & repeats	Thymus	Thymus
39	chr3:17755600-17757400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:17755600-17757400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
41	chr3:17755600-17757400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
42	chr3:17755600-17757400	ZNF genes & repeats	Placenta	Placenta
43	chr3:17755600-17757600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:17755600-17757600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:17755600-17757600	ZNF genes & repeats	Fetal Stomach	stomach
46	chr3:17755600-17757800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
47	chr3:17755600-17757800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
48	chr3:17755600-17757800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:17755600-17757800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
50	chr3:17755600-17758000	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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