Variant report

Variant	nsv933981
Chromosome Location	chr10:50730049-50732868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:244)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr10:50731373-50731488	NB4	blood:	n/a	n/a
2	POLR2A	chr10:50730796-50730874	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr10:50730839-50731115	K562	blood:	n/a	n/a
4	POLR2A	chr10:50732740-50732848	HUVEC	blood vessel:	n/a	n/a
5	ZC3H11A	chr10:50730167-50730312	K562	blood:	n/a	n/a
6	ZNF274	chr10:50731895-50732574	HepG2	liver:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:50732819-50732869	PANC-1	pancreas:	n/a
2	chr10:50732819-50732869	HCPEpiC	choroid plexus:	n/a
3	chr10:50732844-50732894	PrEC	prostate:	n/a
4	chr10:50732297-50732347	PANC-1	pancreas:	n/a
5	chr10:50732844-50732894	BE2_C	brain:	n/a
6	chr10:50732819-50732869	LNCaP	prostate:	n/a
7	chr10:50732496-50732546	SKMC	muscle:	n/a
8	chr10:50732297-50732347	BE2_C	brain:	n/a
9	chr10:50732496-50732546	HepG2	liver:	n/a
10	chr10:50732496-50732546	BJ	skin:	n/a
11	chr10:50732844-50732894	HL-60	blood:	n/a
12	chr10:50732297-50732347	GM12878	blood:	n/a
13	chr10:50732496-50732546	GM12892	blood:	n/a
14	chr10:50732496-50732546	MCF10A-Er-Src	breast:	n/a
15	chr10:50732844-50732894	K562	blood:	n/a
16	chr10:50732844-50732894	HPAEpiC	pulmonary alveolar:	n/a
17	chr10:50732819-50732869	HepG2	liver:	n/a
18	chr10:50732496-50732546	RPTEC	kidney:	n/a
19	chr10:50732496-50732546	AG09309	skin:	n/a
20	chr10:50732496-50732546	SK-N-SH	brain:	n/a
21	chr10:50732844-50732894	AG10803	skin:	n/a
22	chr10:50732819-50732869	AG09319	gingival:	n/a
23	chr10:50732496-50732546	T-47D	breast:	n/a
24	chr10:50732844-50732894	LNCaP	prostate:	n/a
25	chr10:50732496-50732546	SK-N-MC	brain:	n/a
26	chr10:50732297-50732347	AG09319	gingival:	n/a
27	chr10:50732297-50732347	T-47D	breast:	n/a
28	chr10:50732819-50732869	HRCEpiC	kidney:	n/a
29	chr10:50732819-50732869	HCF	heart:	n/a
30	chr10:50732844-50732894	CMK	blood:	n/a
31	chr10:50732297-50732347	A549	lung:	n/a
32	chr10:50732297-50732347	HIPEpiC	eye:	n/a
33	chr10:50732496-50732546	NHDF-neo	bronchial:	n/a
34	chr10:50732819-50732869	PrEC	prostate:	n/a
35	chr10:50732297-50732347	GM19239	blood:	n/a
36	chr10:50732496-50732546	HCT-116	colon:	n/a
37	chr10:50732496-50732546	HCF	heart:	n/a
38	chr10:50732297-50732347	RPTEC	kidney:	n/a
39	chr10:50732819-50732869	HCM	heart:	n/a
40	chr10:50732844-50732894	HRPEpiC	eye:	n/a
41	chr10:50732496-50732546	A549	lung:	n/a
42	chr10:50732297-50732347	ProgFib	skin:	n/a
43	chr10:50732297-50732347	Caco-2	colon:	n/a
44	chr10:50732844-50732894	GM12891	blood:	n/a
45	chr10:50732844-50732894	NT2-D1	testis:	n/a
46	chr10:50732297-50732347	MCF-7	breast:	n/a
47	chr10:50732819-50732869	ProgFib	skin:	n/a
48	chr10:50732819-50732869	CMK	blood:	n/a
49	chr10:50732297-50732347	AG09309	skin:	n/a
50	chr10:50732844-50732894	H1-hESC	embryonic stem cell:	embryo

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:50732404..50734142-chr10:50745663..50748821,3	MCF-7	breast:
2	chr10:50724821..50729589-chr10:50731335..50734731,5	K562	blood:
3	chr10:50727908..50731629-chr10:50735183..50738136,3	MCF-7	breast:
4	chr10:50728212..50731102-chr10:50742607..50744631,2	K562	blood:
5	chr10:50729482..50733326-chr10:50734602..50739448,5	K562	blood:
6	chr10:50731383..50733326-chr10:50736507..50739448,3	K562	blood:

No data

Variant related genes	Relation type
PGBD3	TF binding region
PGBD3	CpG island
ENSG00000243251	chromatin interactions
ENSG00000258838	chromatin interactions
ENSG00000225830	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575022267	chr10:50730083-50730084	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542198960	chr10:50730116-50730117	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560332005	chr10:50730119-50730120	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527688386	chr10:50730153-50730154	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181891287	chr10:50730155-50730156	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12220085	chr10:50730180-50730181	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs185761464	chr10:50730185-50730186	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549597920	chr10:50730203-50730204	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114150693	chr10:50730251-50730252	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535242154	chr10:50730287-50730288	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547470831	chr10:50730299-50730300	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188994444	chr10:50730310-50730311	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs117215329	chr10:50730344-50730345	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs76062895	chr10:50730358-50730359	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111696205	chr10:50730375-50730376	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577642058	chr10:50730416-50730417	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538428236	chr10:50730430-50730431	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556838525	chr10:50730475-50730476	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574874727	chr10:50730524-50730525	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185581540	chr10:50730581-50730582	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560645106	chr10:50730586-50730587	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372905926	chr10:50730626-50730627	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546206351	chr10:50730690-50730691	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs145235527	chr10:50730713-50730714	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11101146	chr10:50730716-50730717	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs149150757	chr10:50730725-50730726	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs190769997	chr10:50730779-50730780	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183001273	chr10:50730780-50730781	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185983078	chr10:50730782-50730783	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs377246446	chr10:50730805-50730806	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572119826	chr10:50730827-50730828	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529266424	chr10:50730848-50730849	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565792494	chr10:50730874-50730875	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs532771727	chr10:50730892-50730893	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs144975232	chr10:50730937-50730938	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571152289	chr10:50731022-50731023	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11101147	chr10:50731029-50731030	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs4253054	chr10:50731101-50731102	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568520317	chr10:50731141-50731142	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536068550	chr10:50731160-50731161	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs117553576	chr10:50731189-50731190	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572536447	chr10:50731203-50731204	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531340817	chr10:50731205-50731206	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557775731	chr10:50731220-50731221	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192092102	chr10:50731231-50731232	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576028491	chr10:50731249-50731250	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535176880	chr10:50731261-50731262	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs35782652	chr10:50731264-50731265	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543270922	chr10:50731294-50731295	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs561660108	chr10:50731295-50731296	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50686600-50731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:50696400-50731800	Weak transcription	Small Intestine	intestine
3	chr10:50707000-50732200	Weak transcription	NHDF-Ad	bronchial
4	chr10:50707600-50735600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr10:50715000-50732200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:50716200-50731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr10:50717200-50731200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:50717200-50736200	Weak transcription	Colon Smooth Muscle	Colon
9	chr10:50717200-50746000	Weak transcription	Fetal Heart	heart
10	chr10:50717400-50737000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:50717600-50730600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr10:50717600-50731600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr10:50720400-50746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:50721600-50734800	Weak transcription	A549	lung
15	chr10:50723000-50734400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:50723000-50741000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr10:50723200-50741000	Strong transcription	Primary T cells from cord blood	blood
18	chr10:50723200-50741000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:50723200-50741000	Strong transcription	HMEC	breast
20	chr10:50723200-50741800	Strong transcription	Osteobl	bone
21	chr10:50723400-50731200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr10:50723400-50739600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr10:50723400-50741000	Strong transcription	Fetal Intestine Large	intestine
24	chr10:50723400-50741000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr10:50723400-50741600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr10:50723400-50741600	Strong transcription	NHEK	skin
27	chr10:50723600-50741000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr10:50723800-50731800	Weak transcription	NHLF	lung
29	chr10:50724200-50732200	Weak transcription	Pancreas	Pancrea
30	chr10:50724400-50734800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr10:50724600-50732200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr10:50724800-50731400	Weak transcription	NH-A	brain
33	chr10:50725000-50746200	Weak transcription	Psoas Muscle	Psoas
34	chr10:50725200-50731600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr10:50725400-50733000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr10:50725600-50731200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr10:50725600-50731200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr10:50725600-50732200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr10:50726000-50730200	Strong transcription	Fetal Intestine Small	intestine
40	chr10:50726200-50730200	Strong transcription	Fetal Stomach	stomach
41	chr10:50726600-50731200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr10:50726600-50732000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:50726600-50734000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr10:50726800-50731800	Weak transcription	Lung	lung
45	chr10:50726800-50739600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:50727000-50731200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr10:50727600-50731000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr10:50727600-50734000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr10:50727800-50730200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:50727800-50732000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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