Variant report

Variant	nsv551150
Chromosome Location	chr10:61286904-61330297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:187)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:187 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:61313403-61313433	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr10:61296380-61296530	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr10:61326099-61326150	LNCaP	prostate:	n/a	n/a
4	CTCF	chr10:61296420-61296570	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr10:61296419-61296570	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr10:61296380-61296530	AG10803	skin:	n/a	n/a
7	CTCF	chr10:61296400-61296550	AG09319	gingival:	n/a	n/a
8	CTCF	chr10:61313240-61313390	A549	lung:	n/a	n/a
9	CTCF	chr10:61313160-61313310	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr10:61302555-61302627	LNCaP	prostate:	n/a	n/a
11	CTCF	chr10:61313175-61313251	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr10:61288460-61288610	GM12866	blood:	n/a	n/a
13	CTCF	chr10:61296480-61296630	BE2_C	brain:	n/a	n/a
14	CTCF	chr10:61296420-61296570	BE2_C	brain:	n/a	n/a
15	CTCF	chr10:61296420-61296570	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr10:61313180-61313330	BE2_C	brain:	n/a	n/a
17	CTCF	chr10:61313080-61313230	BE2_C	brain:	n/a	n/a
18	CTCF	chr10:61296440-61296590	AG04450	lung:	n/a	n/a
19	CTCF	chr10:61313200-61313350	HPF	lung:	n/a	n/a
20	CTCF	chr10:61313120-61313270	HPF	lung:	n/a	n/a
21	CTCF	chr10:61296420-61296570	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr10:61316700-61316850	GM12865	blood:	n/a	n/a
23	CTCF	chr10:61313120-61313270	HAc	cerebellar:	n/a	n/a
24	CTCF	chr10:61311162-61311214	GM13977	blood:	n/a	n/a
25	CTCF	chr10:61313200-61313350	HBMEC	blood vessel:	n/a	n/a
26	E2F4	chr10:61295993-61296261	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr10:61297641-61297738	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr10:61321613-61321915	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr10:61303601-61303711	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr10:61322638-61322792	MCF10A-Er-Src	breast:	n/a	n/a
31	EP300	chr10:61316726-61317212	SK-N-SH_RA	brain:	n/a	n/a
32	EP300	chr10:61295829-61296749	SK-N-SH_RA	brain:	n/a	chr10:61296630-61296640
33	EP300	chr10:61295800-61296341	SK-N-SH_RA	brain:	n/a	n/a
34	EP300	chr10:61316772-61317902	SK-N-SH	brain:	n/a	chr10:61317700-61317714
35	EP300	chr10:61312771-61313194	SK-N-SH_RA	brain:	n/a	n/a
36	EP300	chr10:61316612-61317374	SK-N-SH	brain:	n/a	n/a
37	EP300	chr10:61295688-61296501	SK-N-SH	brain:	n/a	n/a
38	EP300	chr10:61295670-61297025	SK-N-SH	brain:	n/a	chr10:61296630-61296640 chr10:61296823-61296833
39	EP300	chr10:61320831-61322239	SK-N-SH	brain:	n/a	chr10:61321505-61321519
40	EP300	chr10:61321036-61321903	SK-N-SH_RA	brain:	n/a	chr10:61321505-61321519
41	EP300	chr10:61313582-61314108	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr10:61321056-61321932	SK-N-SH_RA	brain:	n/a	chr10:61321505-61321519
43	EP300	chr10:61312763-61313141	SK-N-SH_RA	brain:	n/a	n/a
44	EP300	chr10:61321037-61322186	SK-N-SH	brain:	n/a	chr10:61321505-61321519
45	EP300	chr10:61316712-61317233	SK-N-SH_RA	brain:	n/a	n/a
46	EP300	chr10:61313654-61314052	SK-N-SH_RA	brain:	n/a	n/a
47	EP300	chr10:61295780-61297022	SK-N-SH	brain:	n/a	chr10:61296630-61296640 chr10:61296823-61296833
48	FAM48A	chr10:61305131-61305170	GM12878	blood:	n/a	n/a
49	FOS	chr10:61321339-61321757	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr10:61321273-61321813	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:61297420-61297470	GM12878	blood:	n/a
2	chr10:61320994-61321044	HPAEpiC	pulmonary alveolar:	n/a
3	chr10:61297420-61297470	HEEpiC	esophagus:	n/a
4	chr10:61297420-61297470	HCM	heart:	n/a
5	chr10:61320994-61321044	HL-60	blood:	n/a
6	chr10:61297420-61297470	HCF	heart:	n/a
7	chr10:61320994-61321044	H1-hESC	embryonic stem cell:	embryo
8	chr10:61320994-61321044	SK-N-SH	brain:	n/a
9	chr10:61297420-61297470	NHBE	bronchial:	n/a
10	chr10:61320994-61321044	RPTEC	kidney:	n/a
11	chr10:61320994-61321044	BJ	skin:	n/a
12	chr10:61297420-61297470	A549	lung:	n/a
13	chr10:61297420-61297470	SK-N-MC	brain:	n/a
14	chr10:61297420-61297470	AG04450	lung:	fetal
15	chr10:61297420-61297470	PFSK-1	brain:	n/a
16	chr10:61297420-61297470	SK-N-SH	brain:	n/a
17	chr10:61320994-61321044	MCF-7	breast:	n/a
18	chr10:61320994-61321044	ECC-1	luminal epithelium:	n/a
19	chr10:61320994-61321044	Hepatocyte	liver:	n/a
20	chr10:61297420-61297470	HRE	kidney:	n/a
21	chr10:61297420-61297470	NB4	blood:	n/a
22	chr10:61297420-61297470	NHDF-neo	bronchial:	n/a
23	chr10:61320994-61321044	SKMC	muscle:	n/a
24	chr10:61297420-61297470	GM19239	blood:	n/a
25	chr10:61320994-61321044	A549	lung:	n/a
26	chr10:61297420-61297470	Caco-2	colon:	n/a
27	chr10:61320994-61321044	U87	brain:	n/a
28	chr10:61320994-61321044	GM19239	blood:	n/a
29	chr10:61320994-61321044	LNCaP	prostate:	n/a
30	chr10:61297420-61297470	BJ	skin:	n/a
31	chr10:61297420-61297470	SAEC	small airway:	n/a
32	chr10:61297420-61297470	K562	blood:	n/a
33	chr10:61320994-61321044	AG09319	gingival:	n/a
34	chr10:61297420-61297470	SK-N-SH_RA	brain:	n/a
35	chr10:61297420-61297470	PrEC	prostate:	n/a
36	chr10:61297420-61297470	GM06990	blood:	n/a
37	chr10:61297420-61297470	GM12892	blood:	n/a
38	chr10:61320994-61321044	HRPEpiC	eye:	n/a
39	chr10:61297420-61297470	Hepatocyte	liver:	n/a
40	chr10:61297420-61297470	H1-hESC	embryonic stem cell:	embryo
41	chr10:61320994-61321044	HCPEpiC	choroid plexus:	n/a
42	chr10:61320994-61321044	AG10803	skin:	n/a
43	chr10:61320994-61321044	Hela-S3	cervix:	n/a
44	chr10:61297420-61297470	HepG2	liver:	n/a
45	chr10:61297420-61297470	AoSMC	blood vessel:	n/a
46	chr10:61297420-61297470	HRPEpiC	eye:	n/a
47	chr10:61320994-61321044	GM06990	blood:	n/a
48	chr10:61320994-61321044	CMK	blood:	n/a
49	chr10:61320994-61321044	NHDF-neo	bronchial:	n/a
50	chr10:61320994-61321044	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:61316394..61318901-chr10:61319114..61321714,2	K562	blood:
2	chr10:61316394..61318901-chr10:61319114..61321714,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC16A9-4	chr10:61311162-61311636	NONHSAT013524

No data

Variant related genes	Relation type
MRPL50P4	TF binding region
MRPL50P4	CpG island

Extended variants
information (count: 1108 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1108 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11006554	chr10:61286904-61286905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371287244	chr10:61286934-61286935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559238048	chr10:61286937-61286938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555209557	chr10:61286942-61286943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576731513	chr10:61286949-61286950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182410414	chr10:61286956-61286957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375502837	chr10:61286959-61286960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565969798	chr10:61286961-61286962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565387521	chr10:61286980-61286981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532640697	chr10:61286992-61286993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11006555	chr10:61287001-61287002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539398733	chr10:61287030-61287031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542107264	chr10:61287033-61287034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559463981	chr10:61287082-61287083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577605199	chr10:61287085-61287086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74154129	chr10:61287195-61287196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527615504	chr10:61287264-61287265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141152034	chr10:61287299-61287300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146938484	chr10:61287319-61287320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531414284	chr10:61287382-61287383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561304725	chr10:61287388-61287389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549558760	chr10:61287425-61287426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569347421	chr10:61287474-61287475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111439369	chr10:61287571-61287572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11006556	chr10:61287610-61287611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs137889143	chr10:61287678-61287679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533080425	chr10:61287718-61287719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565554819	chr10:61287746-61287747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555063649	chr10:61287778-61287779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185239745	chr10:61287782-61287783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79470562	chr10:61287842-61287843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77763032	chr10:61287843-61287844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555304028	chr10:61287871-61287872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79711889	chr10:61287888-61287889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111811561	chr10:61287935-61287936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574116149	chr10:61288011-61288012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559190339	chr10:61288053-61288054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577439951	chr10:61288067-61288068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541148351	chr10:61288084-61288085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112326068	chr10:61288098-61288099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541621839	chr10:61288102-61288103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574746806	chr10:61288122-61288123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542168283	chr10:61288139-61288140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550073237	chr10:61288187-61288188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143817554	chr10:61288198-61288199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376351027	chr10:61288238-61288239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1619518	chr10:61288245-61288246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs564723332	chr10:61288257-61288258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373504842	chr10:61288263-61288264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376605465	chr10:61288295-61288296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Urothelial carcinoma	21177765	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	20643615	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic myelogenous leukemia	20824076	CNVD
Papillary thyroid carcinoma	20824076	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61286000-61296400	Weak transcription	Ovary	ovary
2	chr10:61293800-61296400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:61294200-61295800	Enhancers	Colon Smooth Muscle	Colon
4	chr10:61294400-61294600	Enhancers	Lung	lung
5	chr10:61294400-61294600	Enhancers	Rectal Smooth Muscle	rectum
6	chr10:61294600-61294800	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr10:61294600-61296200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:61294600-61298400	Weak transcription	Lung	lung
9	chr10:61294800-61295000	Enhancers	Stomach Smooth Muscle	stomach
10	chr10:61294800-61295800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr10:61295000-61296400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr10:61295400-61296000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:61295400-61296200	Enhancers	NHDF-Ad	bronchial
14	chr10:61295400-61296800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:61295400-61298800	Enhancers	Fetal Stomach	stomach
16	chr10:61295600-61296200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr10:61295600-61296200	Enhancers	HSMMtube	muscle
18	chr10:61295600-61296800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:61295600-61297200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:61295600-61297600	Enhancers	HUVEC	blood vessel
21	chr10:61295600-61299600	Enhancers	Fetal Lung	lung
22	chr10:61295800-61296000	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr10:61295800-61296200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:61295800-61296600	Enhancers	Primary hematopoietic stem cells	blood
25	chr10:61295800-61296600	Enhancers	HMEC	breast
26	chr10:61295800-61296800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:61295800-61297000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:61295800-61297000	Enhancers	NH-A	brain
29	chr10:61295800-61297200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr10:61295800-61297200	Enhancers	HSMM	muscle
31	chr10:61295800-61298200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr10:61296000-61296200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:61296000-61296200	Enhancers	Colon Smooth Muscle	Colon
34	chr10:61296000-61296600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:61296200-61296600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:61296200-61296600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:61296200-61296600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr10:61296200-61296600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr10:61296200-61296600	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr10:61296200-61296600	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr10:61296200-61296600	Flanking Active TSS	NHDF-Ad	bronchial
42	chr10:61296200-61296800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr10:61296200-61296800	Flanking Active TSS	HSMMtube	muscle
44	chr10:61296200-61296800	Enhancers	Osteobl	bone
45	chr10:61296200-61297000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:61296200-61297200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr10:61296200-61297200	Enhancers	Brain Anterior Caudate	brain
48	chr10:61296200-61297400	Enhancers	Adipose Nuclei	Adipose
49	chr10:61296200-61297400	Enhancers	Brain Hippocampus Middle	brain
50	chr10:61296200-61297400	Enhancers	Fetal Kidney	kidney

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