Variant report

Variant	esv1842859
Chromosome Location	chr10:43327115-43334095
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	ATF1	chr10:43327236-43327383	K562	blood:	n/a	n/a
2	CHD1	chr10:43332780-43332819	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr10:43332260-43332410	GM12874	blood:	n/a	chr10:43332395-43332408 chr10:43332395-43332408 chr10:43332301-43332308
4	CTCF	chr10:43332215-43332295	HepG2	liver:	n/a	n/a
5	CTCF	chr10:43332160-43332310	HPAF	blood vessel:	n/a	chr10:43332301-43332308
6	CTCF	chr10:43332177-43332346	SK-N-SH_RA	brain:	n/a	chr10:43332301-43332308
7	CTCF	chr10:43332100-43332250	A549	lung:	n/a	n/a
8	CTCF	chr10:43332220-43332370	BJ	skin:	n/a	chr10:43332301-43332308
9	CTCF	chr10:43332180-43332330	AG04450	lung:	n/a	chr10:43332301-43332308
10	CTCF	chr10:43332200-43332350	WERI-Rb-1	eye:	n/a	chr10:43332301-43332308
11	CTCF	chr10:43332240-43332390	NHDF-neo	bronchial:	n/a	chr10:43332301-43332308
12	CTCF	chr10:43332180-43332330	HPAF	blood vessel:	n/a	chr10:43332301-43332308
13	CTCF	chr10:43332200-43332350	MCF-7	breast:	n/a	chr10:43332301-43332308
14	CTCF	chr10:43332220-43332370	HRE	kidney:	n/a	chr10:43332301-43332308
15	CTCF	chr10:43331800-43331950	HPF	lung:	n/a	n/a
16	CTCF	chr10:43332160-43332310	NHLF	lung:	n/a	chr10:43332301-43332308
17	CTCF	chr10:43332226-43332343	GM12891	blood:	n/a	chr10:43332301-43332308
18	CTCF	chr10:43332161-43332410	MCF-7	breast:	n/a	chr10:43332395-43332408 chr10:43332395-43332408 chr10:43332301-43332308
19	CTCF	chr10:43332200-43332350	HFF-Myc	foreskin:	n/a	chr10:43332301-43332308
20	CTCF	chr10:43332164-43332400	NHEK	skin:	n/a	chr10:43332301-43332308
21	CTCF	chr10:43332179-43332441	T-47D	breast:	n/a	chr10:43332395-43332408 chr10:43332395-43332408 chr10:43332301-43332308
22	CTCF	chr10:43332200-43332350	NHEK	skin:	n/a	chr10:43332301-43332308
23	CTCF	chr10:43332180-43332330	AG10803	skin:	n/a	chr10:43332301-43332308
24	CTCF	chr10:43332180-43332330	RPTEC	kidney:	n/a	chr10:43332301-43332308
25	CTCF	chr10:43332200-43332350	BJ	skin:	n/a	chr10:43332301-43332308
26	CTCF	chr10:43332180-43332330	HEEpiC	esophagus:	n/a	chr10:43332301-43332308
27	CTCF	chr10:43332220-43332370	HPF	lung:	n/a	chr10:43332301-43332308
28	CTCF	chr10:43332246-43332313	Pancreas_OC	pancreas:	n/a	chr10:43332301-43332308
29	CTCF	chr10:43331645-43331667	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr10:43332180-43332330	HCPEpiC	choroid plexus:	n/a	chr10:43332301-43332308
31	CTCF	chr10:43332200-43332350	HPF	lung:	n/a	chr10:43332301-43332308
32	CTCF	chr10:43332220-43332370	GM12873	blood:	n/a	chr10:43332301-43332308
33	CTCF	chr10:43332200-43332350	AG09309	skin:	n/a	chr10:43332301-43332308
34	CTCF	chr10:43332200-43332350	HA-sp	spinal cord:	n/a	chr10:43332301-43332308
35	CTCF	chr10:43332260-43332410	BE2_C	brain:	n/a	chr10:43332395-43332408 chr10:43332395-43332408 chr10:43332301-43332308
36	CTCF	chr10:43332180-43332330	SAEC	small airway:	n/a	chr10:43332301-43332308
37	CTCF	chr10:43331740-43331890	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr10:43332220-43332370	HCM	heart:	n/a	chr10:43332301-43332308
39	CTCF	chr10:43332200-43332350	SAEC	small airway:	n/a	chr10:43332301-43332308
40	CTCF	chr10:43332177-43332330	HepG2	liver:	n/a	chr10:43332301-43332308
41	CTCF	chr10:43332179-43332373	MCF-7	breast:	n/a	chr10:43332301-43332308
42	CTCF	chr10:43332220-43332370	HUVEC	blood vessel:	n/a	chr10:43332301-43332308
43	CTCF	chr10:43332200-43332350	BE2_C	brain:	n/a	chr10:43332301-43332308
44	CTCF	chr10:43331700-43331850	HCM	heart:	n/a	n/a
45	CTCF	chr10:43332098-43332471	MCF-7	breast:	n/a	chr10:43332395-43332408 chr10:43332395-43332408 chr10:43332301-43332308
46	CTCF	chr10:43332193-43332323	HUVEC	blood vessel:	n/a	chr10:43332301-43332308
47	CTCF	chr10:43332242-43332280	GM10266	blood:	n/a	n/a
48	CTCF	chr10:43332160-43332310	AG04449	skin:	n/a	chr10:43332301-43332308
49	CTCF	chr10:43332180-43332330	AG09319	gingival:	n/a	chr10:43332301-43332308
50	CTCF	chr10:43332260-43332410	HFF	foreskin:	n/a	chr10:43332395-43332408 chr10:43332395-43332408 chr10:43332301-43332308

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43331952-43332002	A549	lung:	n/a
2	chr10:43332737-43332787	AG10803	skin:	n/a
3	chr10:43329092-43329142	RPTEC	kidney:	n/a
4	chr10:43331952-43332002	HUVEC	blood vessel:	n/a
5	chr10:43332329-43332379	BE2_C	brain:	n/a
6	chr10:43329092-43329142	HCT-116	colon:	n/a
7	chr10:43329092-43329142	HMEC	breast:	n/a
8	chr10:43329092-43329142	AoSMC	blood vessel:	n/a
9	chr10:43332329-43332379	H1-hESC	embryonic stem cell:	embryo
10	chr10:43329092-43329142	ECC-1	luminal epithelium:	n/a
11	chr10:43332329-43332379	AoSMC	blood vessel:	n/a
12	chr10:43331952-43332002	HEEpiC	esophagus:	n/a
13	chr10:43332737-43332787	T-47D	breast:	n/a
14	chr10:43332737-43332787	HIPEpiC	eye:	n/a
15	chr10:43332693-43332743	HCF	heart:	n/a
16	chr10:43332329-43332379	ECC-1	luminal epithelium:	n/a
17	chr10:43332443-43332493	HNPCEpiC	eye:	n/a
18	chr10:43332693-43332743	T-47D	breast:	n/a
19	chr10:43332329-43332379	AG09319	gingival:	n/a
20	chr10:43329092-43329142	GM12878	blood:	n/a
21	chr10:43332737-43332787	HCF	heart:	n/a
22	chr10:43332737-43332787	PANC-1	pancreas:	n/a
23	chr10:43332737-43332787	NH-A	brain:	n/a
24	chr10:43332737-43332787	BE2_C	brain:	n/a
25	chr10:43332693-43332743	HRE	kidney:	n/a
26	chr10:43332693-43332743	AoSMC	blood vessel:	n/a
27	chr10:43332693-43332743	LNCaP	prostate:	n/a
28	chr10:43329092-43329142	HepG2	liver:	n/a
29	chr10:43329092-43329142	NT2-D1	testis:	n/a
30	chr10:43332443-43332493	ECC-1	luminal epithelium:	n/a
31	chr10:43332737-43332787	HL-60	blood:	n/a
32	chr10:43332693-43332743	AG09309	skin:	n/a
33	chr10:43329092-43329142	Caco-2	colon:	n/a
34	chr10:43332443-43332493	NHBE	bronchial:	n/a
35	chr10:43332737-43332787	Jurkat	blood:	n/a
36	chr10:43332737-43332787	NHDF-neo	bronchial:	n/a
37	chr10:43332693-43332743	SAEC	small airway:	n/a
38	chr10:43332443-43332493	PrEC	prostate:	n/a
39	chr10:43332443-43332493	BJ	skin:	n/a
40	chr10:43331952-43332002	AG09319	gingival:	n/a
41	chr10:43332443-43332493	MCF10A-Er-Src	breast:	n/a
42	chr10:43332693-43332743	HEK293	kidney:	embryo
43	chr10:43331952-43332002	AG10803	skin:	n/a
44	chr10:43332693-43332743	HUVEC	blood vessel:	n/a
45	chr10:43332443-43332493	SAEC	small airway:	n/a
46	chr10:43332329-43332379	AG10803	skin:	n/a
47	chr10:43332443-43332493	GM12891	blood:	n/a
48	chr10:43331952-43332002	IMR90	lung:	fetal
49	chr10:43331952-43332002	SAEC	small airway:	n/a
50	chr10:43332737-43332787	GM06990	blood:	n/a

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	BMS1	hsa-miR-30a-5p	chr10:43327447-43327468

Variant related genes	Relation type
RNU6-885P	TF binding region
RNU6-885P	CpG island

Extended variants
information (count: 316 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570409410	chr10:43327215-43327216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537699911	chr10:43327229-43327230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111535934	chr10:43327256-43327257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568406071	chr10:43327287-43327288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61844834	chr10:43327294-43327295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75734052	chr10:43327296-43327297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556753780	chr10:43327344-43327345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113925789	chr10:43327374-43327375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113721691	chr10:43327383-43327384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187249437	chr10:43327431-43327432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7894010	chr10:43327505-43327506	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545808971	chr10:43327535-43327536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138984886	chr10:43327544-43327545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540030619	chr10:43327545-43327546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192177467	chr10:43327558-43327559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56085448	chr10:43327570-43327571	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544056025	chr10:43327589-43327590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555801111	chr10:43327610-43327611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150912444	chr10:43327641-43327642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541448846	chr10:43327644-43327645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200191310	chr10:43327668-43327669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554975459	chr10:43327705-43327706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560178170	chr10:43327709-43327710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377111456	chr10:43327777-43327778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527429837	chr10:43327795-43327796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6593498	chr10:43327797-43327798	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563897298	chr10:43327798-43327799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111735060	chr10:43327843-43327844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531418287	chr10:43327851-43327852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200736724	chr10:43327873-43327874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528985968	chr10:43327883-43327884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55818372	chr10:43327884-43327885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550019246	chr10:43327908-43327909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201656232	chr10:43327920-43327921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11239788	chr10:43327972-43327973	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs76027098	chr10:43327991-43327992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547513334	chr10:43327996-43327997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139691694	chr10:43328018-43328019	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs55930857	chr10:43328022-43328023	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs184516095	chr10:43328031-43328032	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs6593499	chr10:43328037-43328038	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs570229506	chr10:43328047-43328048	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs537269365	chr10:43328054-43328055	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs556005304	chr10:43328055-43328056	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs142626723	chr10:43328087-43328088	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs541804716	chr10:43328091-43328092	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs566352907	chr10:43328110-43328111	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs553303239	chr10:43328119-43328120	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs113604728	chr10:43328250-43328251	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs112367237	chr10:43328258-43328259	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
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
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43279800-43328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr10:43293200-43332400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:43303600-43332200	Weak transcription	NHDF-Ad	bronchial
4	chr10:43308200-43328200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr10:43309800-43330000	Weak transcription	Small Intestine	intestine
6	chr10:43310400-43327400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr10:43311200-43329000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr10:43311400-43329000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:43311600-43328200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr10:43312000-43328400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:43314400-43332200	Weak transcription	Right Atrium	heart
12	chr10:43314600-43329800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr10:43317800-43328200	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr10:43317800-43328200	Strong transcription	Fetal Intestine Large	intestine
15	chr10:43317800-43328200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr10:43317800-43328200	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr10:43318200-43327200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr10:43320000-43329000	Weak transcription	Fetal Heart	heart
19	chr10:43320000-43332600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr10:43320400-43328400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:43321400-43332800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr10:43321600-43328200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:43321600-43332200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr10:43321800-43328200	Strong transcription	Fetal Stomach	stomach
25	chr10:43322200-43328200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr10:43323000-43332400	Weak transcription	Psoas Muscle	Psoas
27	chr10:43323400-43332200	Weak transcription	Stomach Mucosa	stomach
28	chr10:43323800-43329200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:43324000-43331600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr10:43325000-43327600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr10:43325000-43328200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr10:43325000-43328200	Strong transcription	Lung	lung
33	chr10:43325000-43328200	Strong transcription	Thymus	Thymus
34	chr10:43325000-43328400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr10:43325000-43328400	Strong transcription	Fetal Brain Female	brain
36	chr10:43325000-43328400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr10:43325000-43329400	Strong transcription	Dnd41	blood
38	chr10:43325200-43327600	Strong transcription	HUVEC	blood vessel
39	chr10:43325200-43328200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr10:43325200-43328200	Strong transcription	Fetal Muscle Leg	muscle
41	chr10:43325400-43327200	Strong transcription	NH-A	brain
42	chr10:43325400-43327400	Strong transcription	Brain Germinal Matrix	brain
43	chr10:43325400-43327400	Strong transcription	HepG2	liver
44	chr10:43325400-43327600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr10:43325400-43327600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr10:43325400-43327600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr10:43325400-43327600	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr10:43325400-43327600	Strong transcription	Osteobl	bone
49	chr10:43325400-43327800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:43325400-43327800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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