Variant report

Variant	nsv550815
Chromosome Location	chr10:49774633-49794481
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr10:49782582-49782820	GM12878	blood:	n/a	n/a
8	EBF1	chr10:49781068-49781415	GM12878	blood:	n/a	chr10:49781262-49781271 chr10:49781261-49781272
9	EBF1	chr10:49781123-49781422	GM12878	blood:	n/a	chr10:49781262-49781271 chr10:49781261-49781272
10	EBF1	chr10:49782490-49782919	GM12878	blood:	n/a	n/a
11	ELK1	chr10:49785265-49785461	GM12878	blood:	n/a	n/a
12	EP300	chr10:49785243-49785492	GM12878	blood:	n/a	n/a
13	EP300	chr10:49787608-49787975	SK-N-SH_RA	brain:	n/a	chr10:49787662-49787676
14	EP300	chr10:49786570-49786720	K562	blood:	n/a	n/a
15	EP300	chr10:49787235-49788648	SK-N-SH	brain:	n/a	chr10:49788094-49788103 chr10:49787662-49787676
16	EP300	chr10:49782360-49782822	GM12878	blood:	n/a	n/a
17	EP300	chr10:49782340-49782779	GM12878	blood:	n/a	n/a
18	FOS	chr10:49780426-49780871	HUVEC	blood vessel:	n/a	chr10:49780607-49780618 chr10:49780640-49780651
19	FOS	chr10:49780464-49780753	MCF10A-Er-Src	breast:	n/a	chr10:49780607-49780618 chr10:49780640-49780651
20	FOS	chr10:49780464-49780757	MCF10A-Er-Src	breast:	n/a	chr10:49780607-49780618 chr10:49780640-49780651
21	FOS	chr10:49780490-49780757	MCF10A-Er-Src	breast:	n/a	chr10:49780607-49780618 chr10:49780640-49780651
22	FOSL2	chr10:49780501-49780892	SK-N-SH	brain:	n/a	n/a
23	GATA2	chr10:49787561-49788334	SH-SY5Y	brain:	n/a	chr10:49787668-49787681 chr10:49787671-49787679
24	GATA3	chr10:49787840-49788120	SH-SY5Y	brain:	n/a	n/a
25	IKZF1	chr10:49785278-49785423	GM12878	blood:	n/a	n/a
26	JUND	chr10:49780560-49780661	HepG2	liver:	n/a	chr10:49780640-49780651 chr10:49780607-49780618
27	MAFF	chr10:49787367-49787381	K562	blood:	n/a	n/a
28	MAFF	chr10:49784590-49784790	K562	blood:	n/a	n/a
29	MAFK	chr10:49787366-49787421	HepG2	liver:	n/a	chr10:49787385-49787394 chr10:49787384-49787394
30	MAFK	chr10:49784635-49784879	IMR90	lung:	n/a	n/a
31	MAX	chr10:49791362-49791382	NB4	blood:	n/a	n/a
32	MAX	chr10:49787529-49787676	NB4	blood:	n/a	n/a
33	MAX	chr10:49785188-49785665	NB4	blood:	n/a	n/a
34	MEF2A	chr10:49782187-49782793	GM12878	blood:	n/a	n/a
35	MTA3	chr10:49782375-49783263	GM12878	blood:	n/a	n/a
36	MYC	chr10:49785169-49785669	NB4	blood:	n/a	n/a
37	MYC	chr10:49787547-49787590	NB4	blood:	n/a	n/a
38	NFIC	chr10:49782184-49782945	GM12878	blood:	n/a	n/a
39	PAX5	chr10:49785777-49786003	GM12878	blood:	n/a	n/a
40	POLR2A	chr10:49774439-49776059	U87	brain:	n/a	n/a
41	POLR2A	chr10:49783556-49784553	U87	brain:	n/a	n/a
42	POLR2A	chr10:49793287-49794294	U87	brain:	n/a	n/a
43	POLR2A	chr10:49794028-49794178	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr10:49778429-49779312	U87	brain:	n/a	n/a
45	POLR2A	chr10:49777283-49777338	A549	lung:	n/a	n/a
46	POLR2A	chr10:49785047-49785502	U87	brain:	n/a	n/a
47	POLR2A	chr10:49774003-49774714	U87	brain:	n/a	n/a
48	POLR2A	chr10:49787688-49787974	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr10:49780097-49781412	U87	brain:	n/a	n/a
50	POLR2A	chr10:49788306-49788339	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49784932..49786991-chr10:49803496..49805915,2	K562	blood:
2	chr10:49776352..49778788-chr10:49787790..49790511,2	K562	blood:
3	chr10:49790222..49791861-chr10:49794010..49795750,2	K562	blood:
4	chr10:49776005..49778776-chr10:49783670..49785755,2	K562	blood:
5	chr10:49761230..49763552-chr10:49773026..49775938,2	K562	blood:
6	chr10:49794436..49796437-chr10:49820833..49823076,2	K562	blood:
7	chr10:49781506..49783468-chr10:49787135..49789633,2	K562	blood:
8	chr10:49781506..49783468-chr10:49787135..49789633,2	K562	blood:
9	chr10:49776005..49778776-chr10:49783670..49785755,2	K562	blood:
10	chr10:49776352..49778788-chr10:49787790..49790511,2	K562	blood:

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

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

Extended variants
information (count: 926 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:926 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11598598	chr10:49774633-49774634	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185850869	chr10:49774661-49774662	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573963434	chr10:49774685-49774686	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541313075	chr10:49774711-49774712	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559824706	chr10:49774722-49774723	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533360544	chr10:49774759-49774760	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7078307	chr10:49774788-49774789	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs563763308	chr10:49774828-49774829	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114334983	chr10:49774892-49774893	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7068812	chr10:49774919-49774920	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs386743496	chr10:49774924-49774925	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1822863	chr10:49774926-49774927	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35941936	chr10:49774946-49774947	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1822862	chr10:49774969-49774970	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs935297	chr10:49775020-49775021	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs189829052	chr10:49775038-49775039	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550307891	chr10:49775076-49775077	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568903362	chr10:49775115-49775116	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs935296	chr10:49775166-49775167	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs935295	chr10:49775175-49775176	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375386111	chr10:49775201-49775202	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10857598	chr10:49775203-49775204	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs534935628	chr10:49775247-49775248	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139103926	chr10:49775248-49775249	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1867589	chr10:49775261-49775262	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs113708003	chr10:49775304-49775305	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545340750	chr10:49775340-49775341	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543652681	chr10:49775353-49775354	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1814478	chr10:49775373-49775374	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs575742617	chr10:49775381-49775382	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543121122	chr10:49775407-49775408	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181937231	chr10:49775451-49775452	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543629802	chr10:49775562-49775563	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186243494	chr10:49775565-49775566	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546485274	chr10:49775609-49775610	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565138023	chr10:49775619-49775620	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190315411	chr10:49775648-49775649	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550513510	chr10:49775675-49775676	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568500123	chr10:49775745-49775746	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535874945	chr10:49775752-49775753	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151257597	chr10:49775761-49775762	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181388469	chr10:49775790-49775791	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185239511	chr10:49775799-49775800	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551915883	chr10:49775800-49775801	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535179611	chr10:49775818-49775819	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553295396	chr10:49775852-49775853	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190043977	chr10:49775874-49775875	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538979809	chr10:49775915-49775916	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529377602	chr10:49775965-49775966	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557662533	chr10:49775995-49775996	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

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:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49742600-49774800	Weak transcription	Aorta	Aorta
2	chr10:49757400-49782200	Weak transcription	HSMMtube	muscle
3	chr10:49761600-49780600	Weak transcription	HUVEC	blood vessel
4	chr10:49763200-49780800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:49764400-49777800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:49765000-49776400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:49766000-49776800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:49770000-49775200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:49770800-49777400	Weak transcription	NH-A	brain
10	chr10:49771600-49779000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:49771800-49780200	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr10:49772000-49776800	Strong transcription	Osteobl	bone
13	chr10:49772600-49775200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:49773000-49782600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:49773000-49787400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr10:49773200-49776200	Weak transcription	Brain Substantia Nigra	brain
17	chr10:49773200-49787800	Weak transcription	Brain Angular Gyrus	brain
18	chr10:49773400-49778000	Strong transcription	NHLF	lung
19	chr10:49773400-49786200	Weak transcription	Brain Hippocampus Middle	brain
20	chr10:49773400-49786600	Strong transcription	HSMM	muscle
21	chr10:49773600-49779400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr10:49774000-49775400	Strong transcription	NHDF-Ad	bronchial
23	chr10:49774200-49779400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:49774400-49776000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:49774800-49775600	Strong transcription	Aorta	Aorta
26	chr10:49775200-49776600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:49775200-49777400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:49775400-49777400	Weak transcription	NHDF-Ad	bronchial
29	chr10:49775600-49782600	Weak transcription	Aorta	Aorta
30	chr10:49776000-49777200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:49776200-49776400	Genic enhancers	Brain Substantia Nigra	brain
32	chr10:49776400-49777000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:49776400-49786200	Weak transcription	Brain Substantia Nigra	brain
34	chr10:49776600-49779200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:49776800-49777000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:49776800-49780200	Weak transcription	Osteobl	bone
37	chr10:49777000-49777200	Enhancers	Primary B cells from peripheral blood	blood
38	chr10:49777000-49787400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:49777200-49777400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr10:49777200-49781200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:49777400-49778000	Strong transcription	NH-A	brain
42	chr10:49777400-49778600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr10:49777400-49779000	Weak transcription	Primary B cells from cord blood	blood
44	chr10:49777400-49779000	Enhancers	NHDF-Ad	bronchial
45	chr10:49777400-49787400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr10:49777800-49779000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:49778000-49780400	Weak transcription	NHLF	lung
48	chr10:49778000-49781200	Weak transcription	NH-A	brain
49	chr10:49778600-49778800	Enhancers	Primary hematopoietic stem cells	blood
50	chr10:49778600-49779000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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