Variant report

Variant	nsv598329
Chromosome Location	chr5:61574836-61576265
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:0)
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	chr5:61570852..61575397-chr5:61600002..61603728,9	K562	blood:
2	chr5:61573722..61577065-chr5:61577950..61581609,5	K562	blood:
3	chr5:61560442..61563605-chr5:61575064..61578930,3	K562	blood:
4	chr5:61574738..61576264-chr5:61698125..61699775,2	K562	blood:
5	chr5:61568618..61571084-chr5:61573101..61574954,2	K562	blood:
6	chr5:61570852..61575074-chr5:61600002..61604457,10	K562	blood:
7	chr5:61570576..61576152-chr5:61577980..61582631,7	K562	blood:
8	chr5:61574146..61576082-chr5:61601811..61603666,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000068796	chromatin interactions
ENSG00000086189	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10471543	chr5:61574836-61574837	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549804528	chr5:61574838-61574839	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs149001860	chr5:61574846-61574847	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs138571574	chr5:61574849-61574850	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs111844719	chr5:61574854-61574855	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs577081988	chr5:61574855-61574856	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546090771	chr5:61574859-61574860	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565307947	chr5:61574862-61574863	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs147965793	chr5:61574877-61574878	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs4016557	chr5:61574880-61574881	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs191580579	chr5:61574892-61574893	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs182700819	chr5:61574965-61574966	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs187921146	chr5:61574974-61574975	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs141404701	chr5:61574978-61574979	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs535100018	chr5:61574979-61574980	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs554804331	chr5:61574985-61574986	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs574771525	chr5:61575018-61575019	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs569255982	chr5:61575020-61575021	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs192219080	chr5:61575033-61575034	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs556947899	chr5:61575034-61575035	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs575900402	chr5:61575046-61575047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs372015916	chr5:61575062-61575063	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544926734	chr5:61575075-61575076	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs536954160	chr5:61575084-61575085	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs565069038	chr5:61575085-61575086	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs112535908	chr5:61575193-61575194	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs145127327	chr5:61575198-61575199	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs570395590	chr5:61575242-61575243	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs529821847	chr5:61575254-61575255	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs4037270	chr5:61575262-61575263	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs569690744	chr5:61575264-61575265	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs3857258	chr5:61575268-61575269	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368583535	chr5:61575286-61575287	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs70977896	chr5:61575328-61575329	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs79447046	chr5:61575329-61575330	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs58554268	chr5:61575333-61575334	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs565617795	chr5:61575334-61575335	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs150417265	chr5:61575411-61575412	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs113629485	chr5:61575412-61575413	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs3846468	chr5:61575415-61575416	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs117025902	chr5:61575439-61575440	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs373752269	chr5:61575447-61575448	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs56128043	chr5:61575517-61575518	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs537167568	chr5:61575519-61575520	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs138154293	chr5:61575547-61575548	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs576855523	chr5:61575568-61575569	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs115213594	chr5:61575571-61575572	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs558621418	chr5:61575593-61575594	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs572203099	chr5:61575613-61575614	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs540827358	chr5:61575657-61575658	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61571600-61577400	Weak transcription	Fetal Intestine Small	intestine
2	chr5:61573200-61575000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:61573200-61576400	Weak transcription	Fetal Intestine Large	intestine
4	chr5:61573400-61575000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:61573600-61575400	Weak transcription	GM12878-XiMat	blood
6	chr5:61573600-61575800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:61573600-61575800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:61573600-61576000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:61573800-61575600	Weak transcription	NHEK	skin
10	chr5:61573800-61575800	Weak transcription	HMEC	breast
11	chr5:61573800-61577800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:61574800-61575000	Enhancers	Primary hematopoietic stem cells	blood
13	chr5:61574800-61577400	Weak transcription	K562	blood
14	chr5:61575000-61576800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:61575000-61577000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:61575000-61577800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:61575600-61578000	Enhancers	NHEK	skin
18	chr5:61575800-61576000	Enhancers	GM12878-XiMat	blood
19	chr5:61575800-61576200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:61575800-61576400	Enhancers	HepG2	liver
21	chr5:61575800-61578200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:61575800-61579000	Enhancers	HMEC	breast
23	chr5:61575800-61580000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:61576000-61577600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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