Variant report

Variant	nsv948319
Chromosome Location	chr10:42731564-42738216
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:42734245-42734464	GM12878	blood:	n/a	n/a
2	BCL11A	chr10:42734310-42734513	GM12878	blood:	n/a	n/a
3	CTCF	chr10:42738192-42738227	GM13976	blood:	n/a	n/a
4	CTCF	chr10:42735572-42735624	GM10248	blood:	n/a	n/a
5	E2F6	chr10:42738080-42738316	K562	blood:	n/a	n/a
6	EP300	chr10:42735325-42735602	GM12878	blood:	n/a	n/a
7	EP300	chr10:42734289-42734554	GM12878	blood:	n/a	n/a
8	FOSL2	chr10:42734198-42734547	HepG2	liver:	n/a	n/a
9	GABPA	chr10:42737010-42737146	Hela-S3	cervix:	n/a	n/a
10	GATA2	chr10:42734261-42734565	K562	blood:	n/a	n/a
11	JUND	chr10:42734304-42734520	HepG2	liver:	n/a	n/a
12	JUND	chr10:42737234-42737434	K562	blood:	n/a	n/a
13	JUND	chr10:42735360-42735531	HepG2	liver:	n/a	n/a
14	JUND	chr10:42737052-42737207	HepG2	liver:	n/a	n/a
15	MAX	chr10:42737948-42738380	K562	blood:	n/a	chr10:42738227-42738236 chr10:42738226-42738237 chr10:42738225-42738238
16	MAX	chr10:42738041-42738298	K562	blood:	n/a	chr10:42738227-42738236 chr10:42738226-42738237 chr10:42738225-42738238
17	MYC	chr10:42732472-42732524	MCF-7	breast:	n/a	n/a
18	PAX5	chr10:42736989-42737201	GM12878	blood:	n/a	n/a
19	PAX5	chr10:42734333-42734526	GM12878	blood:	n/a	n/a
20	PBX3	chr10:42737047-42737140	GM12878	blood:	n/a	n/a
21	PBX3	chr10:42733996-42734146	GM12878	blood:	n/a	n/a
22	PBX3	chr10:42734305-42734448	GM12878	blood:	n/a	n/a
23	POU2F2	chr10:42734288-42734539	GM12878	blood:	n/a	n/a
24	RFX5	chr10:42737258-42737267	K562	blood:	n/a	n/a
25	RXRA	chr10:42734271-42734536	HepG2	liver:	n/a	n/a
26	RXRA	chr10:42733972-42734281	GM12878	blood:	n/a	n/a
27	SIX5	chr10:42736721-42737114	K562	blood:	n/a	n/a
28	SIX5	chr10:42734303-42734537	K562	blood:	n/a	n/a
29	SIX5	chr10:42734245-42734574	K562	blood:	n/a	n/a
30	SIX5	chr10:42734011-42734229	K562	blood:	n/a	n/a
31	SIX5	chr10:42736791-42737094	K562	blood:	n/a	n/a
32	SP1	chr10:42734229-42734503	GM12878	blood:	n/a	n/a
33	SP1	chr10:42734226-42734532	HepG2	liver:	n/a	n/a
34	SPI1	chr10:42734299-42734529	K562	blood:	n/a	n/a
35	SPI1	chr10:42734763-42734899	K562	blood:	n/a	n/a
36	TCF12	chr10:42735364-42735499	GM12878	blood:	n/a	n/a
37	TCF3	chr10:42736979-42737217	GM12878	blood:	n/a	n/a
38	USF1	chr10:42734785-42734908	HepG2	liver:	n/a	chr10:42734829-42734840
39	USF1	chr10:42738149-42738332	HepG2	liver:	n/a	chr10:42738228-42738237 chr10:42738227-42738236 chr10:42738227-42738236
40	ZBTB33	chr10:42734147-42734525	K562	blood:	n/a	n/a
41	ZBTB33	chr10:42734786-42734915	HepG2	liver:	n/a	n/a
42	ZBTB33	chr10:42734675-42734971	K562	blood:	n/a	n/a
43	ZBTB33	chr10:42732383-42732492	HepG2	liver:	n/a	n/a
44	ZBTB33	chr10:42734323-42734464	HepG2	liver:	n/a	n/a
45	ZBTB33	chr10:42734269-42734557	K562	blood:	n/a	n/a
46	ZBTB33	chr10:42735320-42735585	HepG2	liver:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42737322-42737372	GM12891	blood:	n/a
2	chr10:42737139-42737189	ProgFib	skin:	n/a
3	chr10:42737322-42737372	AG09319	gingival:	n/a
4	chr10:42737582-42737632	SK-N-SH	brain:	n/a
5	chr10:42737582-42737632	HNPCEpiC	eye:	n/a
6	chr10:42737582-42737632	NB4	blood:	n/a
7	chr10:42737582-42737632	Jurkat	blood:	n/a
8	chr10:42737582-42737632	SKMC	muscle:	n/a
9	chr10:42737139-42737189	PFSK-1	brain:	n/a
10	chr10:42737139-42737189	HMEC	breast:	n/a
11	chr10:42737139-42737189	HRCEpiC	kidney:	n/a
12	chr10:42737582-42737632	Caco-2	colon:	n/a
13	chr10:42737139-42737189	Caco-2	colon:	n/a
14	chr10:42737139-42737189	NHBE	bronchial:	n/a
15	chr10:42737582-42737632	A549	lung:	n/a
16	chr10:42737139-42737189	GM06990	blood:	n/a
17	chr10:42737139-42737189	HAEpiC	amniotic membrane:	n/a
18	chr10:42737582-42737632	AG04450	lung:	fetal
19	chr10:42737139-42737189	Hepatocyte	liver:	n/a
20	chr10:42737139-42737189	A549	lung:	n/a
21	chr10:42737582-42737632	U87	brain:	n/a
22	chr10:42737139-42737189	HepG2	liver:	n/a
23	chr10:42737582-42737632	MCF10A-Er-Src	breast:	n/a
24	chr10:42737582-42737632	LNCaP	prostate:	n/a
25	chr10:42737582-42737632	HCM	heart:	n/a
26	chr10:42737582-42737632	AG04449	skin:	fetal
27	chr10:42737582-42737632	GM12878	blood:	n/a
28	chr10:42737322-42737372	GM12892	blood:	n/a
29	chr10:42737322-42737372	AG09309	skin:	n/a
30	chr10:42737322-42737372	T-47D	breast:	n/a
31	chr10:42737582-42737632	HRE	kidney:	n/a
32	chr10:42737322-42737372	AoSMC	blood vessel:	n/a
33	chr10:42737139-42737189	SAEC	small airway:	n/a
34	chr10:42737582-42737632	HRPEpiC	eye:	n/a
35	chr10:42737582-42737632	Hepatocyte	liver:	n/a
36	chr10:42737139-42737189	NHDF-neo	bronchial:	n/a
37	chr10:42737139-42737189	Hela-S3	cervix:	n/a
38	chr10:42737582-42737632	GM12891	blood:	n/a
39	chr10:42737582-42737632	K562	blood:	n/a
40	chr10:42737582-42737632	HMEC	breast:	n/a
41	chr10:42737322-42737372	H1-hESC	embryonic stem cell:	embryo
42	chr10:42737322-42737372	HAEpiC	amniotic membrane:	n/a
43	chr10:42737139-42737189	BJ	skin:	n/a
44	chr10:42737322-42737372	LNCaP	prostate:	n/a
45	chr10:42737139-42737189	MCF-7	breast:	n/a
46	chr10:42737322-42737372	A549	lung:	n/a
47	chr10:42737139-42737189	SKMC	muscle:	n/a
48	chr10:42737582-42737632	PrEC	prostate:	n/a
49	chr10:42737139-42737189	SK-N-SH_RA	brain:	n/a
50	chr10:42737139-42737189	AG10803	skin:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-7	chr10:42737930-42738014	NONHSAT012859

No data

Variant related genes	Relation type
ENSG00000264398	TF binding region
ENSG00000264398	CpG island

Extended variants
information (count: 399 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182508687	chr10:42731568-42731569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529125997	chr10:42731569-42731570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576280341	chr10:42731596-42731597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142207646	chr10:42731610-42731611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111482013	chr10:42731658-42731659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564961912	chr10:42731665-42731666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9664603	chr10:42731669-42731670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs540626122	chr10:42731670-42731671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560863541	chr10:42731679-42731680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375849422	chr10:42731682-42731683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139781775	chr10:42731700-42731701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145810252	chr10:42731701-42731702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144677195	chr10:42731702-42731703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529528037	chr10:42731713-42731714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542899171	chr10:42731725-42731726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192690056	chr10:42731728-42731729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532938248	chr10:42731760-42731761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184885403	chr10:42731761-42731762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183169781	chr10:42731773-42731774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34526365	chr10:42731785-42731786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187951908	chr10:42731797-42731798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527706636	chr10:42731801-42731802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9664813	chr10:42731823-42731824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs376912152	chr10:42731835-42731836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567634651	chr10:42731853-42731854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536181973	chr10:42731869-42731870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556491637	chr10:42731875-42731876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111311282	chr10:42731897-42731898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569903587	chr10:42731931-42731932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538799835	chr10:42731963-42731964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577435626	chr10:42731966-42731967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558691610	chr10:42731970-42731971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112659040	chr10:42731971-42731972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541039462	chr10:42731973-42731974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554304044	chr10:42731982-42731983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184651881	chr10:42731988-42731989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560073374	chr10:42732006-42732007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542960657	chr10:42732072-42732073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562833296	chr10:42732073-42732074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201511286	chr10:42732082-42732083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576044922	chr10:42732092-42732093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531790600	chr10:42732102-42732103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189412330	chr10:42732113-42732114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147857317	chr10:42732174-42732175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182057742	chr10:42732178-42732179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547845514	chr10:42732187-42732188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370755426	chr10:42732223-42732224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567596505	chr10:42732235-42732236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185945506	chr10:42732238-42732239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550105967	chr10:42732242-42732243	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Lung cancer	18438408	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
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	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
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42729400-42732200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:42732200-42732400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:42732200-42732400	Enhancers	Gastric	stomach
4	chr10:42732400-42742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:42736600-42737000	Weak transcription	HSMMtube	muscle
6	chr10:42737000-42737200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
7	chr10:42737000-42737200	Active TSS	HSMM	muscle
8	chr10:42737000-42737400	Enhancers	Primary hematopoietic stem cells	blood
9	chr10:42737000-42737400	Active TSS	HMEC	breast
10	chr10:42737000-42737400	ZNF genes & repeats	HSMMtube	muscle
11	chr10:42737000-42737400	Bivalent Enhancer	NHEK	skin
12	chr10:42737000-42737600	Enhancers	Osteobl	bone
13	chr10:42737000-42738400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:42737000-42738400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:42737200-42737400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr10:42737200-42737400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr10:42737200-42737400	Enhancers	Brain Substantia Nigra	brain
18	chr10:42737200-42737400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr10:42737200-42737400	Flanking Active TSS	HSMM	muscle
20	chr10:42737200-42737400	ZNF genes & repeats	NH-A	brain
21	chr10:42737200-42737600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr10:42737200-42738200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
23	chr10:42737400-42738000	Weak transcription	HSMM	muscle
24	chr10:42737400-42739000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr10:42737600-42737800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:42737600-42737800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:42737600-42738000	Active TSS	Esophagus	oesophagus
28	chr10:42737600-42738000	Active TSS	Pancreas	Pancrea
29	chr10:42737600-42738000	Bivalent/Poised TSS	Right Ventricle	heart
30	chr10:42737600-42738000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
31	chr10:42737600-42738400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:42737600-42738400	Active TSS	Colon Smooth Muscle	Colon
33	chr10:42737600-42738800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:42737600-42739200	Active TSS	Ovary	ovary
35	chr10:42737800-42738000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:42737800-42738000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:42737800-42739200	Active TSS	Aorta	Aorta
38	chr10:42737800-42739200	Bivalent/Poised TSS	Psoas Muscle	Psoas
39	chr10:42737800-42739200	Active TSS	Right Atrium	heart
40	chr10:42738000-42738200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr10:42738000-42738200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr10:42738000-42738200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
45	chr10:42738000-42738200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
47	chr10:42738000-42738200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Left Ventricle	heart
50	chr10:42738000-42738200	Flanking Bivalent TSS/Enh	Lung	lung

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