Variant report

Variant	nsv528463
Chromosome Location	chr2:32535568-32541438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32533026..32534673-chr2:32537279..32539306,2	K562	blood:
2	chr2:32539415..32541287-chr2:32546582..32548508,2	K562	blood:
3	chr2:32536114..32538190-chr2:32545833..32547499,2	MCF-7	breast:
4	chr2:32531368..32534340-chr2:32540006..32541759,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YIPF4-1	chr2:32534100-32537281	XLOC_001417
2	lnc-YIPF4-1	chr2:32538713-32538803	XLOC_001417

Variant related genes	Relation type
ENSG00000272754	chromatin interactions
KRAS	miRNA target sites
SYMPK	miRNA target sites

Extended variants
information (count: 281 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs385760	chr2:32535568-32535569	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566044092	chr2:32535575-32535576	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs192535273	chr2:32535648-32535649	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs146650793	chr2:32535710-32535711	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs62134050	chr2:32535718-32535719	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114384426	chr2:32535730-32535731	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs140234173	chr2:32535743-32535744	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs369583079	chr2:32535763-32535764	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs539987369	chr2:32535785-32535786	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs553310995	chr2:32535894-32535895	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs566790192	chr2:32535922-32535923	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs145391033	chr2:32535923-32535924	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs548852762	chr2:32535968-32535969	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs570163167	chr2:32535969-32535970	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs537595101	chr2:32535972-32535973	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs183589528	chr2:32535984-32535985	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs188334212	chr2:32536009-32536010	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs572764349	chr2:32536041-32536042	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs571327792	chr2:32536046-32536047	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs543201583	chr2:32536057-32536058	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs181221511	chr2:32536059-32536060	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs137929438	chr2:32536067-32536068	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs371881010	chr2:32536079-32536080	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs149093859	chr2:32536124-32536125	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs143116995	chr2:32536134-32536135	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs34643181	chr2:32536152-32536153	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs369395078	chr2:32536189-32536190	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs541812681	chr2:32536199-32536200	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs562204225	chr2:32536218-32536219	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs531272567	chr2:32536259-32536260	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs551193807	chr2:32536264-32536265	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs186495979	chr2:32536298-32536299	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs530908052	chr2:32536315-32536316	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs189910175	chr2:32536333-32536334	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs546745145	chr2:32536388-32536389	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs372163366	chr2:32536398-32536399	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs141305174	chr2:32536445-32536446	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs553514584	chr2:32536490-32536491	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs535450685	chr2:32536536-32536537	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs181621411	chr2:32536546-32536547	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs549395071	chr2:32536599-32536600	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs567994792	chr2:32536621-32536622	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs536998364	chr2:32536622-32536623	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs34180518	chr2:32536657-32536658	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs147246618	chr2:32536660-32536661	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs576589483	chr2:32536680-32536681	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs117950989	chr2:32536699-32536700	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs552765868	chr2:32536700-32536701	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs373581595	chr2:32536723-32536724	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs11884907	chr2:32536796-32536797	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32504000-32537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:32504000-32540200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:32504000-32549400	Weak transcription	HSMMtube	muscle
4	chr2:32504800-32537600	Weak transcription	Fetal Brain Male	brain
5	chr2:32507800-32550000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:32514000-32553000	Weak transcription	Small Intestine	intestine
7	chr2:32514200-32555800	Weak transcription	Colonic Mucosa	Colon
8	chr2:32514800-32541000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:32515400-32538800	Weak transcription	NHEK	skin
10	chr2:32517200-32536200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:32517400-32553200	Weak transcription	Stomach Mucosa	stomach
12	chr2:32520200-32537200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:32520600-32535600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:32520600-32537400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:32520600-32541800	Weak transcription	Brain Substantia Nigra	brain
16	chr2:32521000-32554600	Weak transcription	Ovary	ovary
17	chr2:32521800-32552400	Weak transcription	Fetal Kidney	kidney
18	chr2:32523400-32547200	Weak transcription	NH-A	brain
19	chr2:32525000-32537400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:32525400-32548600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:32526600-32536000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:32526600-32537000	Weak transcription	HMEC	breast
23	chr2:32526600-32541800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:32526800-32548600	Weak transcription	Fetal Brain Female	brain
25	chr2:32528400-32544400	Weak transcription	NHDF-Ad	bronchial
26	chr2:32528600-32556400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:32528800-32535600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:32528800-32535600	Weak transcription	Fetal Lung	lung
29	chr2:32528800-32538400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:32528800-32538400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr2:32528800-32539400	Weak transcription	Pancreas	Pancrea
32	chr2:32528800-32547200	Weak transcription	Lung	lung
33	chr2:32528800-32547400	Weak transcription	Aorta	Aorta
34	chr2:32528800-32548000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:32528800-32548400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:32528800-32555000	Weak transcription	Gastric	stomach
37	chr2:32528800-32555800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:32528800-32555800	Weak transcription	Spleen	Spleen
39	chr2:32528800-32560800	Weak transcription	Right Ventricle	heart
40	chr2:32528800-32566200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:32529000-32537000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:32529000-32537000	Weak transcription	GM12878-XiMat	blood
43	chr2:32529000-32554000	Weak transcription	Fetal Heart	heart
44	chr2:32529200-32535800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:32529200-32550000	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:32529800-32565600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:32531200-32537400	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:32531800-32536000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:32531800-32536400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:32532200-32545200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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