Variant report

Variant	nsv948140
Chromosome Location	chr10:94428323-94436153
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:305)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:94428693-94428805	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr10:94428684-94428915	IMR90	lung:	n/a	chr10:94428810-94428821
3	CEBPB	chr10:94428690-94428986	A549	lung:	n/a	chr10:94428810-94428821
4	CEBPB	chr10:94428676-94428982	HepG2	liver:	n/a	chr10:94428810-94428821
5	CEBPB	chr10:94428769-94428854	K562	blood:	n/a	chr10:94428810-94428821
6	CTCF	chr10:94428654-94428729	GM10248	blood:	n/a	n/a
7	JUN	chr10:94428676-94428856	HepG2	liver:	n/a	n/a
8	JUND	chr10:94428726-94428917	HepG2	liver:	n/a	n/a
9	MAFK	chr10:94436026-94436246	HepG2	liver:	n/a	n/a
10	NR2F2	chr10:94433528-94433877	K562	blood:	n/a	n/a
11	STAT3	chr10:94432897-94433097	MCF10A-Er-Src	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:94429569-94429619	NH-A	brain:	n/a
2	chr10:94429542-94429592	AG04449	skin:	fetal
3	chr10:94429530-94429580	SAEC	small airway:	n/a
4	chr10:94429542-94429592	HRE	kidney:	n/a
5	chr10:94429542-94429592	PrEC	prostate:	n/a
6	chr10:94429530-94429580	RPTEC	kidney:	n/a
7	chr10:94429542-94429592	AG04450	lung:	fetal
8	chr10:94429569-94429619	HIPEpiC	eye:	n/a
9	chr10:94429526-94429576	HL-60	blood:	n/a
10	chr10:94429569-94429619	HCM	heart:	n/a
11	chr10:94429526-94429576	AG04450	lung:	fetal
12	chr10:94429569-94429619	NHDF-neo	bronchial:	n/a
13	chr10:94429542-94429592	BJ	skin:	n/a
14	chr10:94429542-94429592	HCPEpiC	choroid plexus:	n/a
15	chr10:94429569-94429619	GM12891	blood:	n/a
16	chr10:94429526-94429576	AG09309	skin:	n/a
17	chr10:94429569-94429619	HRE	kidney:	n/a
18	chr10:94429506-94429556	SAEC	small airway:	n/a
19	chr10:94429526-94429576	HIPEpiC	eye:	n/a
20	chr10:94429542-94429592	GM12892	blood:	n/a
21	chr10:94429569-94429619	PrEC	prostate:	n/a
22	chr10:94429506-94429556	AG04449	skin:	fetal
23	chr10:94429530-94429580	GM19239	blood:	n/a
24	chr10:94429506-94429556	IMR90	lung:	fetal
25	chr10:94429526-94429576	HPAEpiC	pulmonary alveolar:	n/a
26	chr10:94429530-94429580	T-47D	breast:	n/a
27	chr10:94429569-94429619	AG10803	skin:	n/a
28	chr10:94429569-94429619	PANC-1	pancreas:	n/a
29	chr10:94429542-94429592	U87	brain:	n/a
30	chr10:94429530-94429580	HAEpiC	amniotic membrane:	n/a
31	chr10:94429542-94429592	PFSK-1	brain:	n/a
32	chr10:94429506-94429556	HRPEpiC	eye:	n/a
33	chr10:94429542-94429592	HCF	heart:	n/a
34	chr10:94429506-94429556	GM12891	blood:	n/a
35	chr10:94429569-94429619	Caco-2	colon:	n/a
36	chr10:94429526-94429576	HNPCEpiC	eye:	n/a
37	chr10:94429530-94429580	MCF10A-Er-Src	breast:	n/a
38	chr10:94429542-94429592	HCT-116	colon:	n/a
39	chr10:94429526-94429576	NHDF-neo	bronchial:	n/a
40	chr10:94429530-94429580	PANC-1	pancreas:	n/a
41	chr10:94429569-94429619	ECC-1	luminal epithelium:	n/a
42	chr10:94429526-94429576	SK-N-SH	brain:	n/a
43	chr10:94429530-94429580	SK-N-SH	brain:	n/a
44	chr10:94429506-94429556	GM12878	blood:	n/a
45	chr10:94429506-94429556	HUVEC	blood vessel:	n/a
46	chr10:94429542-94429592	HEK293	kidney:	embryo
47	chr10:94429542-94429592	HUVEC	blood vessel:	n/a
48	chr10:94429530-94429580	PrEC	prostate:	n/a
49	chr10:94429506-94429556	H1-hESC	embryonic stem cell:	embryo
50	chr10:94429526-94429576	HCF	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:94434338..94436350-chr10:94446810..94449570,2	K562	blood:
2	chr10:94430325..94433160-chr10:94453394..94455547,2	K562	blood:
3	chr10:94434850..94438940-chr10:94446699..94450647,3	K562	blood:

No data

Variant related genes	Relation type
EIF2S2P3	TF binding region
EIF2S2P3	CpG island
ENSG00000152804	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7903302	chr10:94429511-94429512	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369469816	chr10:94429522-94429523	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs11187126	chr10:94429526-94429527	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182858406	chr10:94429547-94429548	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs531874397	chr10:94429549-94429550	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs545517580	chr10:94429583-94429584	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs11187127	chr10:94429589-94429590	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs565322072	chr10:94429606-94429607	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs535264183	chr10:94429610-94429611	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs200210600	chr10:94429611-94429612	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs527649663	chr10:94429612-94429613	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs571469981	chr10:94431846-94431847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs549836979	chr10:94431867-94431868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs529486635	chr10:94431905-94431906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs80227565	chr10:94431926-94431927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs2497318	chr10:94432000-94432001	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191952744	chr10:94432725-94432726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs370090798	chr10:94432728-94432729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568536549	chr10:94432729-94432730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs191717740	chr10:94432734-94432735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs537192458	chr10:94432752-94432753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs560002925	chr10:94432766-94432767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs576674628	chr10:94432768-94432769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs141067045	chr10:94432782-94432783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186505697	chr10:94432783-94432784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs570516689	chr10:94432798-94432799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs572338000	chr10:94432805-94432806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs80070399	chr10:94432829-94432830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535167073	chr10:94432840-94432841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs138962143	chr10:94432869-94432870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs558596940	chr10:94432870-94432871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs565178683	chr10:94432872-94432873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs534592346	chr10:94432896-94432897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs557947790	chr10:94432953-94432954	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs78367449	chr10:94433029-94433030	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs543554041	chr10:94433030-94433031	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs563325185	chr10:94433050-94433051	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs576934847	chr10:94433064-94433065	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs79526675	chr10:94433081-94433082	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs370700592	chr10:94433140-94433141	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563990826	chr10:94433207-94433208	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559070688	chr10:94433286-94433287	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7909334	chr10:94433373-94433374	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs574335810	chr10:94433379-94433380	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371439333	chr10:94433383-94433384	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527236370	chr10:94433399-94433400	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548595734	chr10:94433416-94433417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183585663	chr10:94433437-94433438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187619610	chr10:94433446-94433447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201427180	chr10:94433455-94433456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94431800-94432000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr10:94432600-94433400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:94432600-94433400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:94432800-94433200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr10:94433000-94433400	Enhancers	HepG2	liver
6	chr10:94433200-94438800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr10:94433400-94435800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:94433600-94434600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:94435800-94436200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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