Variant report

Variant	esv2762962
Chromosome Location	chr2:173493078-173527311
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:173492299..173494515-chr2:173498149..173499767,2	K562	blood:
2	chr2:173506570..173508456-chr2:173543074..173545589,2	MCF-7	breast:
3	chr2:173492299..173494515-chr2:173498149..173499767,2	K562	blood:
4	chr2:173499964..173502739-chr2:173506139..173507845,2	MCF-7	breast:
5	chr2:173501713..173506948-chr2:173507663..173511952,6	K562	blood:
6	chr2:173499964..173502739-chr2:173506139..173507845,2	MCF-7	breast:
7	chr2:173526170..173528453-chr2:173529190..173532044,2	K562	blood:
8	chr2:173501713..173506948-chr2:173507663..173511952,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDK1-1	chr2:173492557-173494290	NONHSAT075516

No data

Variant related genes	Relation type
ENSG00000228016	chromatin interactions

Extended variants
information (count: 1470 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:1470 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs836589	chr2:173493078-173493079	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs544368428	chr2:173493080-173493081	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs836590	chr2:173493107-173493108	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs568199992	chr2:173493130-173493131	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs537257587	chr2:173493163-173493164	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs186536383	chr2:173493203-173493204	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs559078440	chr2:173493241-173493242	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs116674143	chr2:173493242-173493243	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs114325986	chr2:173493259-173493260	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs527269392	chr2:173493281-173493282	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs142684642	chr2:173493299-173493300	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs79607454	chr2:173493327-173493328	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs531831785	chr2:173493375-173493376	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs550302421	chr2:173493489-173493490	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs114519263	chr2:173493506-173493507	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs146505765	chr2:173493517-173493518	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs140806593	chr2:173493519-173493520	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs111806239	chr2:173493589-173493590	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs189792413	chr2:173493591-173493592	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs112517270	chr2:173493612-173493613	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs557994453	chr2:173493664-173493665	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs79015391	chr2:173493682-173493683	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs537656741	chr2:173493787-173493788	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs555979068	chr2:173493813-173493814	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs182369344	chr2:173493821-173493822	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs369808213	chr2:173493829-173493830	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs372925074	chr2:173493842-173493843	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs188291008	chr2:173493853-173493854	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs1531150	chr2:173493879-173493880	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1531149	chr2:173493886-173493887	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1531148	chr2:173493892-173493893	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs117170843	chr2:173493927-173493928	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs112271242	chr2:173493933-173493934	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs562296218	chr2:173493944-173493945	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs2606072	chr2:173493948-173493949	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs369295804	chr2:173493997-173493998	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs578196203	chr2:173494018-173494019	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs574894606	chr2:173494113-173494114	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs11899916	chr2:173494132-173494133	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs544052311	chr2:173494137-173494138	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs6733679	chr2:173494143-173494144	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs532889161	chr2:173494144-173494145	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs6718681	chr2:173494214-173494215	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs559129535	chr2:173494215-173494216	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs569943435	chr2:173494258-173494259	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs537596021	chr2:173494265-173494266	Weak transcription Strong transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs116772350	chr2:173494316-173494317	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574324276	chr2:173494323-173494324	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528177950	chr2:173494333-173494334	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371254980	chr2:173494341-173494342	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173461400-173504200	Weak transcription	NHEK	skin
2	chr2:173462200-173507400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:173465600-173495200	Weak transcription	Ovary	ovary
4	chr2:173471800-173495600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:173472600-173504600	Weak transcription	Adipose Nuclei	Adipose
6	chr2:173474600-173504400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:173478800-173496800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:173479600-173495800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:173479600-173496200	Weak transcription	Thymus	Thymus
10	chr2:173479800-173494600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:173479800-173496000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:173480000-173493800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:173480000-173494200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr2:173480000-173495000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:173480000-173495200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:173480000-173496000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:173480200-173495800	Weak transcription	GM12878-XiMat	blood
18	chr2:173480200-173499200	Weak transcription	HepG2	liver
19	chr2:173485800-173497200	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:173488800-173494200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:173489200-173496200	Weak transcription	Fetal Thymus	thymus
22	chr2:173489200-173507200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:173489400-173494400	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:173489400-173500400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:173489400-173504200	Weak transcription	NHLF	lung
26	chr2:173490200-173500600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:173490400-173497200	Weak transcription	HSMM	muscle
28	chr2:173491400-173494800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:173491800-173494600	Strong transcription	Primary T cells from cord blood	blood
30	chr2:173491800-173494800	Strong transcription	Primary B cells from cord blood	blood
31	chr2:173491800-173494800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:173492000-173494200	Weak transcription	Aorta	Aorta
33	chr2:173492000-173494800	Strong transcription	Dnd41	blood
34	chr2:173492200-173494800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:173492400-173494000	Weak transcription	Pancreas	Pancrea
36	chr2:173492800-173494000	Weak transcription	Fetal Brain Male	brain
37	chr2:173492800-173494600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:173492800-173494600	Strong transcription	Fetal Stomach	stomach
39	chr2:173492800-173497600	Weak transcription	Fetal Brain Female	brain
40	chr2:173493000-173494600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:173493600-173494200	Weak transcription	Spleen	Spleen
42	chr2:173494000-173494600	Enhancers	Fetal Brain Male	brain
43	chr2:173494200-173494600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:173494200-173494600	ZNF genes & repeats	Aorta	Aorta
45	chr2:173494200-173494600	ZNF genes & repeats	Esophagus	oesophagus
46	chr2:173494200-173494600	ZNF genes & repeats	Lung	lung
47	chr2:173494200-173494600	ZNF genes & repeats	Spleen	Spleen
48	chr2:173494400-173494600	Enhancers	Fetal Muscle Leg	muscle
49	chr2:173494600-173494800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:173494600-173495600	Weak transcription	Fetal Brain Male	brain

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