Variant report

Variant	nsv5498
Chromosome Location	chr10:849137-860462
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:456178..457890-chr10:852622..854288,2	MCF-7	breast:
2	chr10:852322..854745-chr10:858049..860254,2	K562	blood:
3	chr10:840309..840941-chr10:856321..856837,2	MCF-7	breast:
4	chr10:851217..854668-chr10:856285..859147,3	MCF-7	breast:
5	chr10:835119..835814-chr10:856015..856751,2	MCF-7	breast:
6	chr10:556739..557438-chr10:855963..856846,3	MCF-7	breast:
7	chr10:851680..853848-chr10:854341..855901,2	K562	blood:
8	chr10:849312..852215-chr10:856422..858320,2	K562	blood:
9	chr10:852322..854745-chr10:858049..860254,2	K562	blood:
10	chr10:851217..854668-chr10:856285..859147,3	MCF-7	breast:
11	chr10:847643..849814-chr10:851213..852909,2	K562	blood:
12	chr10:847643..849814-chr10:851213..852909,2	K562	blood:
13	chr10:849218..853180-chr10:854145..855910,4	K562	blood:
14	chr10:835663..837203-chr10:849697..852402,2	MCF-7	breast:
15	chr10:849218..853180-chr10:854145..855910,4	K562	blood:
16	chr10:849312..852215-chr10:856422..858320,2	K562	blood:
17	chr10:851047..854031-chr10:861867..864621,2	K562	blood:
18	chr10:857383..859373-chr10:865645..868472,2	MCF-7	breast:
19	chr10:849121..851622-chr10:853279..855417,2	K562	blood:
20	chr10:849121..851622-chr10:853279..855417,2	K562	blood:
21	chr10:854955..857145-chr10:859946..862172,2	MCF-7	breast:
22	chr10:844752..846844-chr10:853886..856295,2	K562	blood:
23	chr10:851680..853848-chr10:854341..855901,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000107929	chromatin interactions

Extended variants
information (count: 516 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:516 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557904351	chr10:849145-849146	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577788029	chr10:849157-849158	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537049162	chr10:849158-849159	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35913002	chr10:849184-849185	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs373672758	chr10:849197-849198	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367812116	chr10:849205-849206	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143639921	chr10:849219-849220	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573397676	chr10:849226-849227	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187387249	chr10:849227-849228	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12413228	chr10:849230-849231	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530871729	chr10:849233-849234	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190835798	chr10:849289-849290	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182983132	chr10:849301-849302	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530022073	chr10:849312-849313	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563027049	chr10:849334-849335	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185953144	chr10:849347-849348	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9651396	chr10:849350-849351	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374970746	chr10:849384-849385	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551558564	chr10:849391-849392	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571376953	chr10:849413-849414	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537185770	chr10:849424-849425	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12413763	chr10:849454-849455	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs116395683	chr10:849465-849466	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535836372	chr10:849485-849486	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553649301	chr10:849490-849491	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10450532	chr10:849497-849498	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76902579	chr10:849527-849528	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565178495	chr10:849551-849552	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111942755	chr10:849575-849576	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183049305	chr10:849597-849598	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544329735	chr10:849661-849662	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561210265	chr10:849669-849670	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530124081	chr10:849685-849686	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10450519	chr10:849767-849768	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192474596	chr10:849777-849778	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528357985	chr10:849929-849930	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2274375	chr10:849979-849980	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs76382642	chr10:849991-849992	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11253450	chr10:850075-850076	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs550664362	chr10:850123-850124	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2274376	chr10:850157-850158	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs74117547	chr10:850180-850181	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs117111093	chr10:850185-850186	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566120748	chr10:850197-850198	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538993156	chr10:850250-850251	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182763412	chr10:850251-850252	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558803193	chr10:850306-850307	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575468115	chr10:850309-850310	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544366780	chr10:850313-850314	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372842938	chr10:850318-850319	Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:831400-850000	Weak transcription	Fetal Heart	heart
2	chr10:835600-853000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:835800-852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:836000-849400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:836000-852000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:836000-852800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr10:836200-850200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:836200-852000	Weak transcription	Ovary	ovary
9	chr10:836200-852400	Weak transcription	Brain Hippocampus Middle	brain
10	chr10:836200-852600	Weak transcription	Osteobl	bone
11	chr10:836400-850400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr10:836600-853000	Weak transcription	Stomach Mucosa	stomach
13	chr10:838000-851200	Weak transcription	Gastric	stomach
14	chr10:839200-852800	Weak transcription	NHDF-Ad	bronchial
15	chr10:843000-851800	Weak transcription	Brain Anterior Caudate	brain
16	chr10:843400-849400	Weak transcription	Placenta	Placenta
17	chr10:843400-851600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr10:843400-852800	Weak transcription	Brain Substantia Nigra	brain
19	chr10:843400-853000	Weak transcription	Aorta	Aorta
20	chr10:843600-852600	Weak transcription	Primary T cells from cord blood	blood
21	chr10:843600-852800	Weak transcription	HSMMtube	muscle
22	chr10:843800-851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:843800-851400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:844000-852600	Weak transcription	HMEC	breast
25	chr10:844600-857400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr10:845200-851600	Weak transcription	Dnd41	blood
27	chr10:846200-849600	Weak transcription	Fetal Intestine Small	intestine
28	chr10:846600-850800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:846600-853000	Weak transcription	A549	lung
30	chr10:846800-850800	Weak transcription	Fetal Intestine Large	intestine
31	chr10:846800-853000	Weak transcription	NHEK	skin
32	chr10:847200-849800	Weak transcription	Fetal Stomach	stomach
33	chr10:847200-850000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:847200-850600	Weak transcription	Brain Germinal Matrix	brain
35	chr10:847400-852200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr10:847600-851000	Weak transcription	Fetal Brain Female	brain
37	chr10:847800-851400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:848200-850800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:848400-850000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr10:848400-850000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr10:848400-850200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr10:848400-850400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:848400-851400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:848600-849200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr10:848600-849400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr10:848600-849600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr10:848600-849600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr10:848600-850000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr10:848600-851000	Enhancers	Lung	lung
50	chr10:848600-851200	Enhancers	Spleen	Spleen

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