Variant report

Variant	nsv881217
Chromosome Location	chr5:52334774-52341512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:52340133..52343071-chr5:52343982..52345648,2	K562	blood:
2	chr5:52285122..52287993-chr5:52333837..52337640,3	MCF-7	breast:
3	chr5:52326404..52328383-chr5:52333260..52335027,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164171	chromatin interactions
ENSG00000249899	chromatin interactions

Extended variants
information (count: 266 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:266 , 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	rs12523395	chr5:52334774-52334775	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143104357	chr5:52334782-52334783	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs144973418	chr5:52334796-52334797	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs556085928	chr5:52334850-52334851	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs572483740	chr5:52334886-52334887	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs574495277	chr5:52334911-52334912	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs541413822	chr5:52334928-52334929	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557043028	chr5:52335037-52335038	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs149370470	chr5:52335038-52335039	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs34190363	chr5:52335140-52335141	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs397884838	chr5:52335147-52335148	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545869726	chr5:52335148-52335149	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs563969703	chr5:52335172-52335173	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs144741380	chr5:52335203-52335204	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs540179904	chr5:52335217-52335218	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs10037449	chr5:52335231-52335232	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192467164	chr5:52335344-52335345	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs550663919	chr5:52335349-52335350	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375957183	chr5:52335360-52335361	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs10041086	chr5:52335361-52335362	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs551900884	chr5:52335369-52335370	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs62357234	chr5:52335402-52335403	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs377270007	chr5:52335439-52335440	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs556100116	chr5:52335440-52335441	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs185022149	chr5:52335441-52335442	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs535448939	chr5:52335445-52335446	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs556718591	chr5:52335476-52335477	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs12652168	chr5:52335494-52335495	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545629042	chr5:52335522-52335523	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs13356629	chr5:52335550-52335551	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs59353264	chr5:52335567-52335568	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs80064200	chr5:52335572-52335573	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs143407509	chr5:52335595-52335596	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs572701249	chr5:52335613-52335614	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs529804055	chr5:52335756-52335757	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs186676424	chr5:52335763-52335764	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs12654447	chr5:52335782-52335783	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs10041193	chr5:52335787-52335788	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs192741706	chr5:52335798-52335799	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs115312205	chr5:52335866-52335867	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs141260641	chr5:52335875-52335876	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs147417550	chr5:52335947-52335948	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs560524601	chr5:52336023-52336024	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs3797496	chr5:52336067-52336068	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549566045	chr5:52336133-52336134	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs527590268	chr5:52336197-52336198	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs184573009	chr5:52336204-52336205	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs552194525	chr5:52336205-52336206	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs538186511	chr5:52336220-52336221	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs550447833	chr5:52336292-52336293	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	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
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52314200-52348000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:52324400-52356400	Weak transcription	Brain Anterior Caudate	brain
3	chr5:52327800-52344200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:52328000-52369200	Weak transcription	Fetal Intestine Small	intestine
5	chr5:52328600-52335200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:52328800-52335800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:52328800-52348000	Weak transcription	Fetal Intestine Large	intestine
8	chr5:52329400-52335600	Weak transcription	Dnd41	blood
9	chr5:52331000-52336200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:52331000-52337000	Weak transcription	Fetal Kidney	kidney
11	chr5:52331800-52334800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:52331800-52334800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:52331800-52335200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:52331800-52337200	Enhancers	HUVEC	blood vessel
15	chr5:52332000-52334800	Enhancers	Brain Hippocampus Middle	brain
16	chr5:52332800-52334800	Enhancers	Stomach Mucosa	stomach
17	chr5:52333000-52334800	Enhancers	Brain Substantia Nigra	brain
18	chr5:52333400-52337000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:52333400-52341400	Strong transcription	HepG2	liver
20	chr5:52333600-52336800	Weak transcription	Fetal Lung	lung
21	chr5:52333800-52334800	Enhancers	Left Ventricle	heart
22	chr5:52333800-52348800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:52333800-52369800	Weak transcription	Colonic Mucosa	Colon
24	chr5:52333800-52392600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr5:52334000-52360800	Weak transcription	Small Intestine	intestine
26	chr5:52334200-52334800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:52334200-52334800	Enhancers	Esophagus	oesophagus
28	chr5:52334200-52334800	Enhancers	Right Atrium	heart
29	chr5:52334200-52334800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:52334200-52337000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:52334400-52334800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:52334400-52334800	Enhancers	Pancreas	Pancrea
33	chr5:52334400-52335600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:52334400-52336200	Enhancers	HMEC	breast
35	chr5:52334400-52337000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:52334400-52338000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:52334400-52348000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:52334600-52335000	Genic enhancers	NHEK	skin
39	chr5:52334600-52336000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:52334600-52336400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:52334600-52336400	Enhancers	Hela-S3	cervix
42	chr5:52334600-52337000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr5:52334600-52337000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr5:52334600-52337000	Weak transcription	A549	lung
45	chr5:52334600-52337000	Weak transcription	NH-A	brain
46	chr5:52334600-52337000	Weak transcription	NHDF-Ad	bronchial
47	chr5:52334600-52337000	Weak transcription	NHLF	lung
48	chr5:52334600-52337000	Weak transcription	Osteobl	bone
49	chr5:52334600-52337400	Weak transcription	Adipose Nuclei	Adipose
50	chr5:52334600-52343400	Weak transcription	Gastric	stomach

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