Variant report

Variant	nsv599223
Chromosome Location	chr5:104253119-104300802
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:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:104296966..104298915-chr5:104301513..104303519,2	K562	blood:
2	chr5:104277822..104279427-chr5:104300449..104302157,2	MCF-7	breast:
3	chr5:104245189..104247786-chr5:104277262..104279951,2	MCF-7	breast:
4	chr5:104248370..104250240-chr5:104261197..104262793,2	MCF-7	breast:
5	chr5:104256936..104259316-chr5:104275958..104278631,2	K562	blood:
6	chr5:104294786..104295742-chr9:99125283..99126098,2	MCF-7	breast:
7	chr17:57921408..57924296-chr5:104291652..104294224,2	MCF-7	breast:
8	chr5:104246978..104249905-chr5:104251799..104254646,2	MCF-7	breast:
9	chr5:104271936..104274851-chr5:104276428..104278480,3	MCF-7	breast:
10	chr5:104270441..104272983-chr5:104273696..104275223,2	K562	blood:
11	chr5:104271936..104274851-chr5:104276428..104278480,3	MCF-7	breast:
12	chr5:104277822..104279427-chr5:104300449..104302157,2	MCF-7	breast:
13	chr5:104270441..104272983-chr5:104273696..104275223,2	K562	blood:
14	chr5:104256936..104259316-chr5:104275958..104278631,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-7	chr5:104253193-104253599	ENSG00000253584

No data

Variant related genes	Relation type
ENSG00000251574	chromatin interactions

Extended variants
information (count: 753 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:753 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191105202	chr5:104253237-104253238	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs562145617	chr5:104253261-104253262	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs556145974	chr5:104253271-104253272	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs73208355	chr5:104253272-104253273	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149318578	chr5:104253289-104253290	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs547507327	chr5:104253330-104253331	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs74319256	chr5:104253408-104253409	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs532178996	chr5:104253433-104253434	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs183588085	chr5:104253448-104253449	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs568950350	chr5:104253449-104253450	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs538175909	chr5:104253457-104253458	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs548168547	chr5:104253474-104253475	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs568086811	chr5:104253480-104253481	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs144643786	chr5:104253495-104253496	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs373848517	chr5:104253530-104253531	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs563286083	chr5:104255802-104255803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529015036	chr5:104255874-104255875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191679076	chr5:104255879-104255880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76620084	chr5:104256041-104256042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182902684	chr5:104256051-104256052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551669349	chr5:104256117-104256118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187507072	chr5:104256135-104256136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537749638	chr5:104256144-104256145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146440785	chr5:104256178-104256179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139871644	chr5:104256193-104256194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574717462	chr5:104260008-104260009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572086117	chr5:104260079-104260080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs423646	chr5:104260108-104260109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188022334	chr5:104260143-104260144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191730554	chr5:104260150-104260151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545725163	chr5:104260152-104260153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184279810	chr5:104260163-104260164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374445410	chr5:104260209-104260210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188962952	chr5:104260257-104260258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368543224	chr5:104260258-104260259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568082694	chr5:104260287-104260288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192220998	chr5:104260323-104260324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185537556	chr5:104260360-104260361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147734462	chr5:104260409-104260410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73208363	chr5:104260413-104260414	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs116718575	chr5:104260481-104260482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543449629	chr5:104260485-104260486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373899716	chr5:104260567-104260568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530592926	chr5:104260568-104260569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190408795	chr5:104260569-104260570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71226922	chr5:104260575-104260576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs57093065	chr5:104260582-104260583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569900103	chr5:104260609-104260610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535774812	chr5:104260703-104260704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564862748	chr5:104260707-104260708	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104255800-104256200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:104260000-104260800	Enhancers	Fetal Intestine Large	intestine
3	chr5:104264600-104265200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:104265200-104268200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:104268200-104268400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:104268200-104268400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:104268400-104268600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:104277200-104277400	Enhancers	Fetal Intestine Large	intestine
9	chr5:104277200-104277400	Enhancers	Fetal Intestine Small	intestine
10	chr5:104277400-104278400	Weak transcription	Fetal Intestine Large	intestine
11	chr5:104277600-104283000	Weak transcription	Fetal Intestine Small	intestine
12	chr5:104277800-104278600	Enhancers	Hela-S3	cervix
13	chr5:104278200-104278800	Enhancers	Colon Smooth Muscle	Colon
14	chr5:104278400-104279200	Enhancers	Fetal Intestine Large	intestine
15	chr5:104279200-104283000	Weak transcription	Fetal Intestine Large	intestine
16	chr5:104283000-104283800	Enhancers	Fetal Intestine Large	intestine
17	chr5:104283000-104283800	Enhancers	Fetal Intestine Small	intestine
18	chr5:104283800-104287800	Weak transcription	Fetal Intestine Small	intestine
19	chr5:104287400-104288000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:104287600-104287800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:104287600-104288000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:104288000-104290600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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