Variant report

Variant	nsv1042256
Chromosome Location	chr10:24846703-24863020
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:24859038..24860954-chr10:24862454..24864881,2	MCF-7	breast:
2	chr10:24853117..24855936-chr10:24863773..24865741,2	K562	blood:
3	chr10:24853571..24855165-chr10:24855262..24857788,2	K562	blood:
4	chr10:24845474..24847177-chr10:24860463..24862561,2	MCF-7	breast:
5	chr10:24854730..24857189-chr10:25359782..25362279,2	K562	blood:
6	chr10:24853004..24854912-chr10:24858337..24860957,2	K562	blood:
7	chr10:24845474..24847177-chr10:24860463..24862561,2	MCF-7	breast:
8	chr10:24853571..24855165-chr10:24855262..24857788,2	K562	blood:
9	chr10:23342800..23345390-chr10:24862811..24864494,2	K562	blood:
10	chr10:24747755..24749783-chr10:24856732..24858753,2	K562	blood:
11	chr10:24844139..24847357-chr10:24848149..24851665,3	K562	blood:
12	chr10:24859038..24860954-chr10:24862454..24864881,2	MCF-7	breast:
13	chr10:24807677..24808580-chr10:24846073..24846755,2	MCF-7	breast:
14	chr10:24853004..24854912-chr10:24858337..24860957,2	K562	blood:
15	chr10:24844139..24847357-chr10:24848149..24851665,3	K562	blood:
16	chr10:24863016..24864644-chr6:36561030..36563610,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112081	chromatin interactions

Extended variants
information (count: 563 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:563 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12245270	chr10:24846703-24846704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190101671	chr10:24846714-24846715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12245275	chr10:24846725-24846726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564068787	chr10:24846747-24846748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138637540	chr10:24846748-24846749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374576505	chr10:24846767-24846768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3073273	chr10:24846769-24846770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569188453	chr10:24846772-24846773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369238398	chr10:24846791-24846792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372710317	chr10:24846794-24846795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368947089	chr10:24846800-24846801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377400327	chr10:24846803-24846804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371945962	chr10:24846804-24846805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375287649	chr10:24846805-24846806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374004310	chr10:24846817-24846818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376924099	chr10:24846821-24846822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12252965	chr10:24846823-24846824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374074012	chr10:24846831-24846832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374935072	chr10:24846834-24846835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199507306	chr10:24846843-24846844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113008987	chr10:24846845-24846846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367559051	chr10:24846849-24846850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370687201	chr10:24846850-24846851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562034751	chr10:24846851-24846852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368685367	chr10:24846852-24846853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371939521	chr10:24846853-24846854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374964382	chr10:24846863-24846864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376343226	chr10:24846867-24846868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201899494	chr10:24846870-24846871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368806164	chr10:24846883-24846884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371918147	chr10:24846896-24846897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144271611	chr10:24846897-24846898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185518371	chr10:24846898-24846899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2367057	chr10:24846904-24846905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs66767121	chr10:24846930-24846931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs542959522	chr10:24846976-24846977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147129290	chr10:24846996-24846997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574012848	chr10:24847013-24847014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536795886	chr10:24847039-24847040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373041494	chr10:24847045-24847046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11014158	chr10:24847050-24847051	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs545281552	chr10:24847068-24847069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111920625	chr10:24847076-24847077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565209352	chr10:24847079-24847080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575535469	chr10:24847085-24847086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182694857	chr10:24847139-24847140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560979605	chr10:24847142-24847143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370140199	chr10:24847176-24847177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546700419	chr10:24847188-24847189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560372183	chr10:24847193-24847194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Breast cancer	17133270	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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Melanoma	20877625	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:24846000-24851600	Weak transcription	Psoas Muscle	Psoas
2	chr10:24846200-24847000	Weak transcription	Lung	lung
3	chr10:24846200-24847000	Weak transcription	Spleen	Spleen
4	chr10:24846800-24849800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr10:24847000-24847200	Enhancers	Spleen	Spleen
6	chr10:24847200-24847400	Enhancers	Lung	lung
7	chr10:24848800-24850200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr10:24849400-24849600	Enhancers	HepG2	liver
9	chr10:24850200-24850600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr10:24850200-24850800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:24850400-24850600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr10:24850400-24851200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:24851600-24851800	Enhancers	Psoas Muscle	Psoas
14	chr10:24856400-24857000	Enhancers	K562	blood
15	chr10:24856800-24859400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:24857000-24857400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:24857000-24857400	Flanking Active TSS	K562	blood
18	chr10:24857000-24860000	Weak transcription	Right Atrium	heart
19	chr10:24857400-24857800	Enhancers	K562	blood
20	chr10:24857400-24910400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:24857800-24860000	Flanking Active TSS	K562	blood
22	chr10:24858200-24858800	Enhancers	Fetal Intestine Small	intestine
23	chr10:24858400-24859000	Enhancers	Fetal Heart	heart
24	chr10:24858600-24858800	Enhancers	Stomach Mucosa	stomach
25	chr10:24858800-24859000	Enhancers	Gastric	stomach
26	chr10:24858800-24860400	Weak transcription	Stomach Mucosa	stomach
27	chr10:24859000-24859600	Weak transcription	Gastric	stomach
28	chr10:24859400-24859600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:24859600-24859800	Enhancers	Gastric	stomach
30	chr10:24859800-24860000	Enhancers	Spleen	Spleen
31	chr10:24859800-24873400	Weak transcription	Gastric	stomach
32	chr10:24860000-24860600	Weak transcription	Spleen	Spleen
33	chr10:24860000-24861600	Enhancers	K562	blood
34	chr10:24860600-24860800	Enhancers	Spleen	Spleen
35	chr10:24860800-24861400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr10:24860800-24873600	Weak transcription	Spleen	Spleen
37	chr10:24861200-24861400	Enhancers	Esophagus	oesophagus
38	chr10:24861200-24861400	Enhancers	Psoas Muscle	Psoas
39	chr10:24861400-24861600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:24861400-24861600	Bivalent Enhancer	A549	lung
41	chr10:24861400-24863600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr10:24861400-24875200	Weak transcription	Psoas Muscle	Psoas
43	chr10:24861400-24907400	Weak transcription	Esophagus	oesophagus
44	chr10:24861600-24862600	Weak transcription	K562	blood
45	chr10:24862600-24866000	Enhancers	K562	blood
46	chr10:24862800-24872000	Weak transcription	Brain Angular Gyrus	brain
47	chr10:24863000-24863600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr10:24863000-24863800	Enhancers	Brain Inferior Temporal Lobe	brain

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