Variant report

Variant	nsv24150
Chromosome Location	chr10:112563598-112568976
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:112566469..112571087-chr10:112574225..112578785,5	MCF-7	breast:
2	chr10:112562682..112564741-chr10:112566724..112568597,2	K562	blood:
3	chr10:112563347..112564165-chr10:112631943..112632909,3	MCF-7	breast:
4	chr10:112563028..112564085-chr10:112631659..112633041,3	MCF-7	breast:
5	chr10:112567996..112570868-chr10:112574019..112576612,3	K562	blood:
6	chr10:112563350..112568484-chr10:112581268..112585698,6	MCF-7	breast:
7	chr10:112562735..112565358-chr10:112599409..112602252,2	MCF-7	breast:
8	chr10:112524248..112526059-chr10:112564369..112566473,2	K562	blood:
9	chr10:112562682..112564741-chr10:112566724..112568597,2	K562	blood:
10	chr10:112564097..112567793-chr10:112569786..112571719,3	MCF-7	breast:
11	chr10:112563517..112564120-chr7:83578072..83579067,2	MCF-7	breast:
12	chr10:112563889..112566843-chr10:112632108..112634836,3	MCF-7	breast:
13	chr10:112568063..112572622-chr10:112629756..112633455,5	MCF-7	breast:
14	chr10:112549386..112550186-chr10:112564811..112565417,3	MCF-7	breast:
15	chr10:112563375..112566130-chr10:112568241..112569894,2	MCF-7	breast:
16	chr10:112065247..112068182-chr10:112564136..112566430,2	MCF-7	breast:
17	chr10:112566725..112569473-chr10:112626744..112628877,2	MCF-7	breast:
18	chr10:112563332..112564151-chr10:112653252..112653940,2	MCF-7	breast:
19	chr10:112563537..112565661-chr10:112631635..112633969,3	MCF-7	breast:
20	chr10:112563375..112566130-chr10:112568241..112569894,2	MCF-7	breast:
21	chr10:112563768..112566237-chr10:112662611..112664819,2	K562	blood:
22	chr10:112563279..112564533-chr10:112653040..112653982,5	MCF-7	breast:
23	chr10:112562895..112565323-chr10:112578777..112581369,2	K562	blood:
24	chr10:112562895..112564656-chr10:112578685..112581369,2	K562	blood:
25	chr10:112561819..112564903-chr10:112677078..112679804,3	MCF-7	breast:
26	chr10:112559443..112561037-chr10:112563760..112565713,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000203497	chromatin interactions
ENSG00000203867	chromatin interactions
ENSG00000150593	chromatin interactions
ENSG00000108061	chromatin interactions
ENSG00000214413	chromatin interactions

Extended variants
information (count: 205 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61862915	chr10:112563603-112563604	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs548738643	chr10:112563625-112563626	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs532085292	chr10:112563634-112563635	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs370006542	chr10:112563726-112563727	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs565709544	chr10:112563752-112563753	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs78891384	chr10:112563810-112563811	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs537518335	chr10:112563819-112563820	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs4918592	chr10:112563828-112563829	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs558595933	chr10:112563838-112563839	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs577279997	chr10:112563850-112563851	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs372895358	chr10:112563904-112563905	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs190933446	chr10:112563913-112563914	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs181936191	chr10:112563917-112563918	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs139870222	chr10:112563932-112563933	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs542526311	chr10:112563948-112563949	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs149837520	chr10:112563977-112563978	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs575878752	chr10:112563981-112563982	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs144922511	chr10:112563982-112563983	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs571469488	chr10:112564013-112564014	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs187064109	chr10:112564095-112564096	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs2146548	chr10:112564104-112564105	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs532548685	chr10:112564154-112564155	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs547515801	chr10:112564158-112564159	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs559062533	chr10:112564169-112564170	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs529725639	chr10:112564180-112564181	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs140915428	chr10:112564189-112564190	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs569633521	chr10:112564193-112564194	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs530582264	chr10:112564282-112564283	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs11594287	chr10:112564284-112564285	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371171854	chr10:112564302-112564303	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs549791893	chr10:112564411-112564412	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs11594321	chr10:112564458-112564459	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs4918593	chr10:112564505-112564506	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs553468012	chr10:112564514-112564515	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs367611417	chr10:112564545-112564546	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs568330059	chr10:112564586-112564587	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs144577966	chr10:112564663-112564664	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs576397970	chr10:112564741-112564742	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs576017960	chr10:112564766-112564767	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs546560283	chr10:112564813-112564814	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs17763750	chr10:112564839-112564840	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs10218962	chr10:112564863-112564864	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs540751976	chr10:112564873-112564874	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs191717820	chr10:112564944-112564945	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs183569437	chr10:112564994-112564995	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs187333810	chr10:112565039-112565040	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs140249907	chr10:112565084-112565085	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs11195333	chr10:112565085-112565086	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs75415529	chr10:112565102-112565103	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs570540279	chr10:112565157-112565158	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myxofibrosarcoma	16751306	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	16616336	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Sezary syndrome	18413736	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112546600-112563800	Weak transcription	Lung	lung
2	chr10:112555800-112563800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:112555800-112563800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:112557400-112563600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr10:112557600-112563800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:112558000-112570200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:112558000-112578400	Weak transcription	Aorta	Aorta
8	chr10:112559400-112567200	Weak transcription	Right Ventricle	heart
9	chr10:112560200-112563800	Weak transcription	K562	blood
10	chr10:112560200-112564000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr10:112561600-112564000	Enhancers	Hela-S3	cervix
12	chr10:112561600-112564400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr10:112561600-112564400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr10:112561600-112564400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr10:112561600-112564400	Enhancers	Rectal Smooth Muscle	rectum
16	chr10:112561600-112565600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr10:112561800-112563800	Enhancers	Primary T cells from cord blood	blood
18	chr10:112561800-112563800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:112561800-112564000	Enhancers	NHDF-Ad	bronchial
20	chr10:112561800-112564200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:112561800-112564200	Enhancers	Adipose Nuclei	Adipose
22	chr10:112561800-112564200	Enhancers	Brain Anterior Caudate	brain
23	chr10:112561800-112564200	Enhancers	Brain Cingulate Gyrus	brain
24	chr10:112561800-112564200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr10:112561800-112564200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr10:112561800-112564200	Enhancers	Small Intestine	intestine
27	chr10:112561800-112564200	Enhancers	HMEC	breast
28	chr10:112561800-112564400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:112561800-112565000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr10:112561800-112565200	Enhancers	Primary B cells from peripheral blood	blood
31	chr10:112561800-112565200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr10:112561800-112565400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:112561800-112565600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr10:112561800-112565600	Enhancers	Colon Smooth Muscle	Colon
35	chr10:112561800-112565600	Enhancers	Fetal Thymus	thymus
36	chr10:112562000-112563600	Enhancers	Pancreas	Pancrea
37	chr10:112562000-112564200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:112562000-112564200	Enhancers	Thymus	Thymus
39	chr10:112562000-112564200	Enhancers	NH-A	brain
40	chr10:112562000-112564400	Enhancers	Fetal Intestine Small	intestine
41	chr10:112562000-112565000	Enhancers	Primary B cells from cord blood	blood
42	chr10:112562000-112565000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr10:112562000-112565000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr10:112562000-112565000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr10:112562000-112565400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr10:112562000-112565600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr10:112562000-112565600	Enhancers	Stomach Mucosa	stomach
48	chr10:112562200-112563800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr10:112562200-112563800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
50	chr10:112562200-112564000	Enhancers	HSMM	muscle

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