Variant report

Variant	esv3394384
Chromosome Location	chr10:51635596-51723744
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	CBX3	chr10:51668623-51668969	K562	blood:	n/a	n/a
2	CBX3	chr10:51680754-51680980	K562	blood:	n/a	n/a
3	CBX3	chr10:51668629-51668960	K562	blood:	n/a	n/a
4	CTCF	chr10:51645309-51645380	GM20000	blood:	n/a	n/a
5	CTCF	chr10:51709255-51709311	GM10248	blood:	n/a	n/a
6	CTCF	chr10:51718916-51718986	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr10:51674638-51674825	Kidney_OC	kidney:	n/a	chr10:51674735-51674748 chr10:51674732-51674750 chr10:51674734-51674755
8	CTCF	chr10:51695407-51695462	GM20000	blood:	n/a	n/a
9	CTCF	chr10:51648225-51648319	GM13976	blood:	n/a	chr10:51648286-51648302 chr10:51648287-51648308 chr10:51648285-51648303
10	CTCF	chr10:51674613-51674809	K562	blood:	n/a	chr10:51674735-51674748 chr10:51674732-51674750 chr10:51674734-51674755
11	CTCF	chr10:51648120-51648341	A549	lung:	n/a	chr10:51648286-51648302 chr10:51648287-51648308 chr10:51648285-51648303
12	CTCF	chr10:51665194-51665244	LNCaP	prostate:	n/a	n/a
13	CTCF	chr10:51648150-51648349	A549	lung:	n/a	chr10:51648286-51648302 chr10:51648287-51648308 chr10:51648285-51648303
14	CTCF	chr10:51648240-51648329	GM20000	blood:	n/a	chr10:51648286-51648302 chr10:51648287-51648308 chr10:51648285-51648303
15	CTCF	chr10:51719368-51719465	Medullo	brain:	n/a	n/a
16	CTCF	chr10:51648231-51648338	GM13977	blood:	n/a	chr10:51648286-51648302 chr10:51648287-51648308 chr10:51648285-51648303
17	CTCF	chr10:51676311-51676415	Medullo	brain:	n/a	n/a
18	CTCF	chr10:51701371-51701408	GM10266	blood:	n/a	n/a
19	CTCF	chr10:51706109-51706151	LNCaP	prostate:	n/a	n/a
20	CTCF	chr10:51693043-51693101	GM10248	blood:	n/a	n/a
21	CTCF	chr10:51702871-51702902	GM10266	blood:	n/a	n/a
22	CTCF	chr10:51692707-51692776	GM20000	blood:	n/a	n/a
23	CTCF	chr10:51716944-51716954	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr10:51712437-51712510	GM13977	blood:	n/a	n/a
25	CTCF	chr10:51648237-51648320	GM10266	blood:	n/a	chr10:51648286-51648302 chr10:51648287-51648308 chr10:51648285-51648303
26	CTCF	chr10:51685746-51685879	LNCaP	prostate:	n/a	n/a
27	CTCF	chr10:51666380-51666459	LNCaP	prostate:	n/a	n/a
28	CTCF	chr10:51674683-51674807	Medullo	brain:	n/a	chr10:51674735-51674748 chr10:51674732-51674750 chr10:51674734-51674755
29	CTCF	chr10:51689437-51689511	GM13976	blood:	n/a	n/a
30	CTCF	chr10:51673951-51674042	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr10:51648183-51648383	A549	lung:	n/a	chr10:51648286-51648302 chr10:51648287-51648308 chr10:51648285-51648303
32	CTCF	chr10:51648204-51648324	Lung_OC	lung:	n/a	chr10:51648286-51648302 chr10:51648287-51648308 chr10:51648285-51648303
33	CTCF	chr10:51689991-51690082	GM13976	blood:	n/a	n/a
34	CTCF	chr10:51665240-51665318	GM20000	blood:	n/a	n/a
35	CTCF	chr10:51658138-51658204	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr10:51705838-51705955	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr10:51638577-51638691	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr10:51710645-51710705	LNCaP	prostate:	n/a	n/a
39	CTCF	chr10:51692142-51692238	GM13976	blood:	n/a	n/a
40	CTCF	chr10:51673355-51673418	LNCaP	prostate:	n/a	n/a
41	CTCF	chr10:51648187-51648374	LNCaP	prostate:	n/a	chr10:51648286-51648302 chr10:51648287-51648308 chr10:51648285-51648303
42	CTCF	chr10:51709475-51709592	GM13977	blood:	n/a	n/a
43	CTCF	chr10:51669888-51669946	Medullo	brain:	n/a	n/a
44	CTCF	chr10:51648079-51648390	A549	lung:	n/a	chr10:51648286-51648302 chr10:51648287-51648308 chr10:51648285-51648303
45	CTCF	chr10:51712662-51712727	GM13977	blood:	n/a	n/a
46	CTCF	chr10:51668188-51668271	GM20000	blood:	n/a	n/a
47	CTCF	chr10:51674335-51674421	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr10:51666394-51666457	GM20000	blood:	n/a	n/a
49	CTCF	chr10:51699276-51699345	Lung_OC	lung:	n/a	n/a
50	CTCF	chr10:51692034-51692070	GM20000	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGAP6-1	chr10:51723005-51724217	NONHSAT013367
2	lnc-TIMM23-1	chr10:51654977-51655307	NONHSAT013366

Variant related genes	Relation type
ENSG00000229464	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587635826	chr10:51635642-51635643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587717415	chr10:51635649-51635650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587752166	chr10:51635821-51635822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587767311	chr10:51635915-51635916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587622892	chr10:51635938-51635939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587686353	chr10:51635975-51635976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2812978	chr10:51636151-51636152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587762770	chr10:51636180-51636181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587620045	chr10:51636198-51636199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188446577	chr10:51636200-51636201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587759774	chr10:51636392-51636393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376840798	chr10:51636409-51636410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112832056	chr10:51636772-51636773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183406848	chr10:51636990-51636991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111850131	chr10:51654997-51654998	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs112649534	chr10:51655082-51655083	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs587742283	chr10:51658126-51658127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs587623657	chr10:51658150-51658151	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs587593956	chr10:51658187-51658188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs587681503	chr10:51658202-51658203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs367869419	chr10:51659691-51659692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs202208665	chr10:51721918-51721919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200326970	chr10:51722424-51722425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12258465	chr10:51722495-51722496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3098108	chr10:51722705-51722706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7916557	chr10:51722812-51722813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529306936	chr10:51722867-51722868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543075457	chr10:51722931-51722932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201151290	chr10:51722976-51722977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201375932	chr10:51723058-51723059	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs528641723	chr10:51723128-51723129	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs572718742	chr10:51723169-51723170	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs571552150	chr10:51723170-51723171	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs2813130	chr10:51723190-51723191	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs148924324	chr10:51723199-51723200	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs28824264	chr10:51723207-51723208	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs550894390	chr10:51723214-51723215	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs181244678	chr10:51723219-51723220	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs61847126	chr10:51723270-51723271	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs61847127	chr10:51723277-51723278	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs185633496	chr10:51723326-51723327	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs9416111	chr10:51723366-51723367	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs534750625	chr10:51723385-51723386	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs372493158	chr10:51723388-51723389	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs145113677	chr10:51723397-51723398	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs189701940	chr10:51723412-51723413	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs373630927	chr10:51723426-51723427	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs201679526	chr10:51723453-51723454	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs556982442	chr10:51723474-51723475	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs370581433	chr10:51723491-51723492	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Intellectual disability	22045946	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
skeletal anomalies	21948486	CNVD
Autism	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51624000-51636600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:51624000-51637000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:51721600-51723200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:51721600-51723200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr10:51721800-51751800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:51721800-51752000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:51721800-51752000	Weak transcription	Adipose Nuclei	Adipose
8	chr10:51721800-51777800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:51722000-51723600	Weak transcription	Fetal Intestine Small	intestine
10	chr10:51722000-51732800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr10:51722000-51752200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:51722000-51767600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr10:51722200-51723800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:51722200-51723800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:51722200-51729400	Weak transcription	Fetal Intestine Large	intestine
16	chr10:51722200-51734400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr10:51722200-51752000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:51722400-51738800	Weak transcription	A549	lung
19	chr10:51722400-51743200	Weak transcription	Osteobl	bone
20	chr10:51722400-51743800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:51722400-51752200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr10:51722400-51754200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr10:51722400-51770800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr10:51722400-51775800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:51722400-51775800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:51722400-51777000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr10:51722600-51752200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr10:51722600-51753000	Weak transcription	Fetal Stomach	stomach
29	chr10:51722600-51758600	Weak transcription	Left Ventricle	heart
30	chr10:51722600-51765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:51722600-51770200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr10:51722600-51771200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr10:51722600-51771400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr10:51722800-51757800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr10:51722800-51771200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr10:51723200-51724200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr10:51723200-51724800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:51723200-51753000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr10:51723400-51726200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr10:51723400-51772800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr10:51723600-51724200	Strong transcription	Fetal Intestine Small	intestine
42	chr10:51723600-51771000	Weak transcription	H9 Cell Line	embryonic stem cell

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