Variant report

Variant	nsv550816
Chromosome Location	chr10:49782417-49794481
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr10:49787273-49787423	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr10:49785239-49785412	GM12878	blood:	n/a	n/a
3	CBX3	chr10:49793186-49793487	K562	blood:	n/a	n/a
4	CBX3	chr10:49793180-49793569	K562	blood:	n/a	n/a
5	CEBPB	chr10:49783745-49783945	K562	blood:	n/a	n/a
6	CEBPB	chr10:49787329-49787590	IMR90	lung:	n/a	chr10:49787391-49787403
7	EBF1	chr10:49782490-49782919	GM12878	blood:	n/a	n/a
8	EBF1	chr10:49782582-49782820	GM12878	blood:	n/a	n/a
9	ELK1	chr10:49785265-49785461	GM12878	blood:	n/a	n/a
10	EP300	chr10:49782360-49782822	GM12878	blood:	n/a	n/a
11	EP300	chr10:49787608-49787975	SK-N-SH_RA	brain:	n/a	chr10:49787662-49787676
12	EP300	chr10:49782340-49782779	GM12878	blood:	n/a	n/a
13	EP300	chr10:49786570-49786720	K562	blood:	n/a	n/a
14	EP300	chr10:49787235-49788648	SK-N-SH	brain:	n/a	chr10:49788094-49788103 chr10:49787662-49787676
15	EP300	chr10:49785243-49785492	GM12878	blood:	n/a	n/a
16	GATA2	chr10:49787561-49788334	SH-SY5Y	brain:	n/a	chr10:49787668-49787681 chr10:49787671-49787679
17	GATA3	chr10:49787840-49788120	SH-SY5Y	brain:	n/a	n/a
18	IKZF1	chr10:49785278-49785423	GM12878	blood:	n/a	n/a
19	MAFF	chr10:49784590-49784790	K562	blood:	n/a	n/a
20	MAFF	chr10:49787367-49787381	K562	blood:	n/a	n/a
21	MAFK	chr10:49784635-49784879	IMR90	lung:	n/a	n/a
22	MAFK	chr10:49787366-49787421	HepG2	liver:	n/a	chr10:49787385-49787394 chr10:49787384-49787394
23	MAX	chr10:49785188-49785665	NB4	blood:	n/a	n/a
24	MAX	chr10:49787529-49787676	NB4	blood:	n/a	n/a
25	MAX	chr10:49791362-49791382	NB4	blood:	n/a	n/a
26	MEF2A	chr10:49782187-49782793	GM12878	blood:	n/a	n/a
27	MTA3	chr10:49782375-49783263	GM12878	blood:	n/a	n/a
28	MYC	chr10:49785169-49785669	NB4	blood:	n/a	n/a
29	MYC	chr10:49787547-49787590	NB4	blood:	n/a	n/a
30	NFIC	chr10:49782184-49782945	GM12878	blood:	n/a	n/a
31	PAX5	chr10:49785777-49786003	GM12878	blood:	n/a	n/a
32	POLR2A	chr10:49787093-49788130	U87	brain:	n/a	n/a
33	POLR2A	chr10:49794190-49794230	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr10:49790385-49790972	U87	brain:	n/a	n/a
35	POLR2A	chr10:49787688-49787974	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr10:49793287-49794294	U87	brain:	n/a	n/a
37	POLR2A	chr10:49789009-49789445	U87	brain:	n/a	n/a
38	POLR2A	chr10:49783584-49784547	U87	brain:	n/a	n/a
39	POLR2A	chr10:49783556-49784553	U87	brain:	n/a	n/a
40	POLR2A	chr10:49787099-49788124	U87	brain:	n/a	n/a
41	POLR2A	chr10:49793286-49794417	U87	brain:	n/a	n/a
42	POLR2A	chr10:49782617-49783490	U87	brain:	n/a	n/a
43	POLR2A	chr10:49794028-49794178	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr10:49785150-49785704	HL-60	blood:	n/a	n/a
45	POLR2A	chr10:49790311-49792405	U87	brain:	n/a	n/a
46	POLR2A	chr10:49782674-49783433	U87	brain:	n/a	n/a
47	POLR2A	chr10:49788306-49788339	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr10:49785924-49786686	U87	brain:	n/a	n/a
49	POLR2A	chr10:49790984-49791735	U87	brain:	n/a	n/a
50	POLR2A	chr10:49785047-49785502	U87	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49781506..49783468-chr10:49787135..49789633,2	K562	blood:
2	chr10:49776352..49778788-chr10:49787790..49790511,2	K562	blood:
3	chr10:49776005..49778776-chr10:49783670..49785755,2	K562	blood:
4	chr10:49781506..49783468-chr10:49787135..49789633,2	K562	blood:
5	chr10:49784932..49786991-chr10:49803496..49805915,2	K562	blood:
6	chr10:49794436..49796437-chr10:49820833..49823076,2	K562	blood:
7	chr10:49790222..49791861-chr10:49794010..49795750,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDFY4-2	chr10:49782017-49782955	ENSG00000250000

No data

Variant related genes	Relation type
ARHGAP22	TF binding region
ENSG00000128805	chromatin interactions
OGT	miRNA target sites

Extended variants
information (count: 593 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:593 , 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	rs10491040	chr10:49782417-49782418	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545928853	chr10:49782437-49782438	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs548584638	chr10:49782455-49782456	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs566816904	chr10:49782493-49782494	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs189898830	chr10:49782499-49782500	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs558655303	chr10:49782502-49782503	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs576624836	chr10:49782543-49782544	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs537690832	chr10:49782576-49782577	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs556001840	chr10:49782632-49782633	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs144068475	chr10:49782633-49782634	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs550787632	chr10:49782665-49782666	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs560111939	chr10:49782681-49782682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs571972831	chr10:49782685-49782686	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs181408502	chr10:49782740-49782741	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs564207030	chr10:49782743-49782744	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs35636990	chr10:49782761-49782762	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs185991410	chr10:49782772-49782773	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs551199647	chr10:49782774-49782775	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs563146600	chr10:49782783-49782784	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs80194700	chr10:49782816-49782817	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs548637136	chr10:49782867-49782868	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs189358209	chr10:49782874-49782875	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs527732174	chr10:49782901-49782902	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs181846315	chr10:49782926-49782927	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs144922310	chr10:49782942-49782943	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs113139012	chr10:49782956-49782957	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537604792	chr10:49783014-49783015	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115616548	chr10:49783031-49783032	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536889125	chr10:49783035-49783036	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568232377	chr10:49783044-49783045	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186295096	chr10:49783152-49783153	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535716517	chr10:49783159-49783160	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1900023	chr10:49783175-49783176	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs4838426	chr10:49783204-49783205	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs545821397	chr10:49783239-49783240	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12766573	chr10:49783245-49783246	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148613708	chr10:49783299-49783300	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570789608	chr10:49783306-49783307	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544780873	chr10:49783340-49783341	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563080304	chr10:49783355-49783356	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567818428	chr10:49783357-49783358	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs59419235	chr10:49783358-49783359	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542506833	chr10:49783408-49783409	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs386743499	chr10:49783431-49783432	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56828487	chr10:49783433-49783434	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190316093	chr10:49783467-49783468	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570586574	chr10:49783469-49783470	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531710059	chr10:49783484-49783485	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7896935	chr10:49783497-49783498	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1867588	chr10:49783540-49783541	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:71)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Thoracic aortic aneurysm	21092924	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
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49773000-49782600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr10:49773000-49787400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr10:49773200-49787800	Weak transcription	Brain Angular Gyrus	brain
4	chr10:49773400-49786200	Weak transcription	Brain Hippocampus Middle	brain
5	chr10:49773400-49786600	Strong transcription	HSMM	muscle
6	chr10:49775600-49782600	Weak transcription	Aorta	Aorta
7	chr10:49776400-49786200	Weak transcription	Brain Substantia Nigra	brain
8	chr10:49777000-49787400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:49777400-49787400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:49778800-49783800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr10:49779000-49782600	Enhancers	Primary B cells from peripheral blood	blood
12	chr10:49779000-49782600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr10:49779200-49784400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr10:49779400-49788000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr10:49780200-49783600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:49780200-49783800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:49780400-49782800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr10:49780800-49787200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr10:49781000-49782600	Weak transcription	HUVEC	blood vessel
20	chr10:49781200-49786000	Strong transcription	Osteobl	bone
21	chr10:49781200-49786200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:49781200-49786800	Strong transcription	NH-A	brain
23	chr10:49781200-49787000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr10:49781600-49782600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr10:49781600-49783000	Strong transcription	HMEC	breast
26	chr10:49781600-49783800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:49782000-49783200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr10:49782200-49782600	Enhancers	Primary B cells from cord blood	blood
29	chr10:49782200-49783000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:49782200-49783000	Strong transcription	HSMMtube	muscle
31	chr10:49782200-49786200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:49782400-49783200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:49782400-49783200	Flanking Active TSS	GM12878-XiMat	blood
34	chr10:49782400-49783800	Strong transcription	NHDF-Ad	bronchial
35	chr10:49782400-49784200	Strong transcription	NHLF	lung
36	chr10:49782600-49782800	ZNF genes & repeats	Aorta	Aorta
37	chr10:49782600-49782800	Enhancers	Fetal Thymus	thymus
38	chr10:49782600-49782800	Genic enhancers	HUVEC	blood vessel
39	chr10:49782600-49782800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr10:49782600-49783000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr10:49782600-49783000	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr10:49782600-49783200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr10:49782600-49783200	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr10:49782600-49783400	Enhancers	Placenta	Placenta
45	chr10:49782600-49783800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr10:49782600-49784400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:49782800-49783000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr10:49782800-49783000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr10:49782800-49783200	Strong transcription	HUVEC	blood vessel
50	chr10:49782800-49786200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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