Variant report

Variant	esv2755263
Chromosome Location	chr10:55394094-55546994
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	ARID3A	chr10:55546113-55546324	HepG2	liver:	n/a	n/a
2	BACH1	chr10:55410674-55410823	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr10:55436651-55436653	Hela-S3	cervix:	n/a	n/a
4	CCNT2	chr10:55407553-55407753	K562	blood:	n/a	n/a
5	CEBPB	chr10:55482323-55482573	IMR90	lung:	n/a	chr10:55482450-55482463 chr10:55482451-55482462 chr10:55482452-55482461 chr10:55482452-55482461 chr10:55482450-55482461 chr10:55482452-55482461 chr10:55482450-55482463 chr10:55482452-55482461 chr10:55482450-55482463
6	CEBPB	chr10:55495107-55495314	A549	lung:	n/a	n/a
7	CEBPB	chr10:55539511-55539751	HepG2	liver:	n/a	n/a
8	CEBPB	chr10:55482351-55482593	HepG2	liver:	n/a	chr10:55482450-55482463 chr10:55482451-55482462 chr10:55482452-55482461 chr10:55482452-55482461 chr10:55482450-55482461 chr10:55482452-55482461 chr10:55482450-55482463 chr10:55482452-55482461 chr10:55482450-55482463
9	CEBPB	chr10:55411770-55412027	HepG2	liver:	n/a	chr10:55411925-55411936
10	CEBPB	chr10:55456808-55457116	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr10:55440217-55440437	IMR90	lung:	n/a	chr10:55440348-55440359
12	CEBPB	chr10:55407097-55407340	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr10:55531788-55532061	IMR90	lung:	n/a	chr10:55531918-55531929
14	CEBPB	chr10:55411759-55412117	Hela-S3	cervix:	n/a	chr10:55411925-55411936
15	CEBPB	chr10:55531808-55532061	HepG2	liver:	n/a	chr10:55531918-55531929
16	CEBPB	chr10:55484526-55484810	A549	lung:	n/a	chr10:55484642-55484651 chr10:55484640-55484651 chr10:55484642-55484653 chr10:55484640-55484653
17	CEBPB	chr10:55440212-55440489	A549	lung:	n/a	chr10:55440348-55440359
18	CEBPB	chr10:55484473-55484797	IMR90	lung:	n/a	chr10:55484642-55484651 chr10:55484640-55484651 chr10:55484642-55484653 chr10:55484640-55484653
19	CEBPB	chr10:55494993-55495303	IMR90	lung:	n/a	n/a
20	CEBPB	chr10:55484474-55484818	HepG2	liver:	n/a	chr10:55484642-55484651 chr10:55484640-55484651 chr10:55484642-55484653 chr10:55484640-55484653
21	CEBPB	chr10:55440189-55440480	HepG2	liver:	n/a	chr10:55440348-55440359
22	CEBPB	chr10:55440562-55440588	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr10:55495022-55495339	HepG2	liver:	n/a	n/a
24	CEBPB	chr10:55495099-55495137	K562	blood:	n/a	n/a
25	CEBPB	chr10:55531778-55532075	H1-hESC	embryonic stem cell:	n/a	chr10:55531918-55531929
26	CHD1	chr10:55509966-55509970	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr10:55546103-55546213	GM10266	blood:	n/a	n/a
28	CTCF	chr10:55546179-55546240	GM20000	blood:	n/a	n/a
29	CTCF	chr10:55546174-55546229	GM10248	blood:	n/a	n/a
30	CTCF	chr10:55546120-55546270	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr10:55546120-55546270	HepG2	liver:	n/a	n/a
32	CTCF	chr10:55546080-55546230	GM12874	blood:	n/a	n/a
33	CTCF	chr10:55449120-55449270	HEK293	kidney:	n/a	n/a
34	CTCF	chr10:55524100-55524202	GM10248	blood:	n/a	n/a
35	CTCF	chr10:55546260-55546410	HMEC	breast:	n/a	n/a
36	CTCF	chr10:55546080-55546230	NB4	blood:	n/a	n/a
37	CTCF	chr10:55546040-55546190	GM12865	blood:	n/a	n/a
38	CTCF	chr10:55546160-55546310	GM12866	blood:	n/a	n/a
39	CTCF	chr10:55546140-55546290	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr10:55546120-55546270	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr10:55546140-55546290	GM12869	blood:	n/a	n/a
42	CTCF	chr10:55546078-55546280	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr10:55546038-55546322	Gliobla	brain:	n/a	n/a
44	CTCF	chr10:55546120-55546270	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr10:55546060-55546210	GM12872	blood:	n/a	n/a
46	CTCF	chr10:55546100-55546250	GM12868	blood:	n/a	n/a
47	CTCF	chr10:55546140-55546290	K562	blood:	n/a	n/a
48	CTCF	chr10:55546060-55546210	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr10:55534240-55534390	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr10:55546100-55546250	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:55419714-55419764	K562	blood:	n/a
2	chr10:55419714-55419764	LNCaP	prostate:	n/a
3	chr10:55419714-55419764	HRCEpiC	kidney:	n/a
4	chr10:55419714-55419764	BJ	skin:	n/a
5	chr10:55419714-55419764	HIPEpiC	eye:	n/a
6	chr10:55419927-55419977	K562	blood:	n/a
7	chr10:55419714-55419764	PFSK-1	brain:	n/a
8	chr10:55419927-55419977	NH-A	brain:	n/a
9	chr10:55419927-55419977	GM19239	blood:	n/a
10	chr10:55419927-55419977	AoSMC	blood vessel:	n/a
11	chr10:55419927-55419977	AG09319	gingival:	n/a
12	chr10:55419927-55419977	GM12892	blood:	n/a
13	chr10:55419714-55419764	SK-N-SH_RA	brain:	n/a
14	chr10:55419714-55419764	HCT-116	colon:	n/a
15	chr10:55419927-55419977	A549	lung:	n/a
16	chr10:55419714-55419764	SK-N-MC	brain:	n/a
17	chr10:55419714-55419764	HRE	kidney:	n/a
18	chr10:55419714-55419764	HRPEpiC	eye:	n/a
19	chr10:55419927-55419977	ECC-1	luminal epithelium:	n/a
20	chr10:55419927-55419977	HUVEC	blood vessel:	n/a
21	chr10:55419714-55419764	ECC-1	luminal epithelium:	n/a
22	chr10:55419927-55419977	HEK293	kidney:	embryo
23	chr10:55419927-55419977	MCF-7	breast:	n/a
24	chr10:55419927-55419977	HCPEpiC	choroid plexus:	n/a
25	chr10:55419714-55419764	HEK293	kidney:	embryo
26	chr10:55419714-55419764	PrEC	prostate:	n/a
27	chr10:55419927-55419977	MCF10A-Er-Src	breast:	n/a
28	chr10:55419927-55419977	HNPCEpiC	eye:	n/a
29	chr10:55419927-55419977	HepG2	liver:	n/a
30	chr10:55419927-55419977	HCT-116	colon:	n/a
31	chr10:55419714-55419764	Jurkat	blood:	n/a
32	chr10:55419714-55419764	CMK	blood:	n/a
33	chr10:55419927-55419977	Jurkat	blood:	n/a
34	chr10:55419714-55419764	U87	brain:	n/a
35	chr10:55419714-55419764	HPAEpiC	pulmonary alveolar:	n/a
36	chr10:55419927-55419977	Hepatocyte	liver:	n/a
37	chr10:55419927-55419977	NB4	blood:	n/a
38	chr10:55419927-55419977	PrEC	prostate:	n/a
39	chr10:55419927-55419977	SK-N-SH	brain:	n/a
40	chr10:55419714-55419764	NH-A	brain:	n/a
41	chr10:55419927-55419977	GM12891	blood:	n/a
42	chr10:55419714-55419764	A549	lung:	n/a
43	chr10:55419714-55419764	AG04450	lung:	fetal
44	chr10:55419714-55419764	AG04449	skin:	fetal
45	chr10:55419927-55419977	NHDF-neo	bronchial:	n/a
46	chr10:55419927-55419977	RPTEC	kidney:	n/a
47	chr10:55419927-55419977	CMK	blood:	n/a
48	chr10:55419927-55419977	PANC-1	pancreas:	n/a
49	chr10:55419927-55419977	HPAEpiC	pulmonary alveolar:	n/a
50	chr10:55419927-55419977	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:55405153..55407581-chr5:63345532..63348450,2	MCF-7	breast:
2	chr10:55466040..55468835-chr10:55471879..55474110,2	K562	blood:
3	chr10:55481740..55482260-chr20:52673713..52674214,2	MCF-7	breast:
4	chr10:55466040..55468835-chr10:55471879..55474110,2	K562	blood:
5	10:55527193-55535408..10:55949104-55956834	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DKK1-4	chr10:55526160-55526374	NONHSAT013453

Variant related genes	Relation type
ENSG00000233805	TF binding region
ENSG00000233805	CpG island

Extended variants
information (count: 2581 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2581 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370009983	chr10:55394112-55394113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543792503	chr10:55394121-55394122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576409809	chr10:55394123-55394124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs767605	chr10:55394132-55394133	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs543066209	chr10:55394142-55394143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529385159	chr10:55394150-55394151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549621510	chr10:55394168-55394169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190889769	chr10:55394231-55394232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566244085	chr10:55394324-55394325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528791231	chr10:55394363-55394364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551740253	chr10:55394371-55394372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571905121	chr10:55394412-55394413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs16937617	chr10:55394423-55394424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs138435296	chr10:55394450-55394451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567047579	chr10:55394476-55394477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535912940	chr10:55394522-55394523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11003722	chr10:55394615-55394616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs149199173	chr10:55394712-55394713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545186950	chr10:55394778-55394779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9415287	chr10:55394783-55394784	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575482808	chr10:55394823-55394824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543480341	chr10:55394827-55394828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78408999	chr10:55394932-55394933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180888150	chr10:55394945-55394946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543104943	chr10:55394948-55394949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61859949	chr10:55394955-55394956	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs528725101	chr10:55394969-55394970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73239536	chr10:55394983-55394984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565471172	chr10:55394987-55394988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148379016	chr10:55395005-55395006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7096810	chr10:55395062-55395063	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs72793107	chr10:55395090-55395091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535947185	chr10:55395102-55395103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7100364	chr10:55395108-55395109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529716491	chr10:55395118-55395119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186544408	chr10:55395123-55395124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142199549	chr10:55395153-55395154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549549067	chr10:55395160-55395161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146309012	chr10:55395196-55395197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575470912	chr10:55395197-55395198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151180054	chr10:55397069-55397070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574646184	chr10:55397070-55397071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540469590	chr10:55397089-55397090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188222759	chr10:55397106-55397107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367591017	chr10:55397148-55397149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545812088	chr10:55397166-55397167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562439310	chr10:55397168-55397169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576216936	chr10:55397205-55397206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541903349	chr10:55397218-55397219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111731506	chr10:55397222-55397223	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Developmental delay	21948486	CNVD
Intellectual disability	21948486	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
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55394000-55394400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr10:55394200-55394400	Enhancers	Fetal Kidney	kidney
3	chr10:55394200-55395200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:55394400-55395200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:55395000-55395200	Enhancers	Fetal Kidney	kidney
6	chr10:55397000-55398400	Enhancers	Fetal Lung	lung
7	chr10:55397800-55398400	Enhancers	Primary hematopoietic stem cells	blood
8	chr10:55398400-55403200	Weak transcription	Fetal Lung	lung
9	chr10:55403200-55406200	Enhancers	Fetal Lung	lung
10	chr10:55405200-55407400	Enhancers	Fetal Stomach	stomach
11	chr10:55406200-55406600	Flanking Active TSS	Fetal Lung	lung
12	chr10:55406200-55406600	Enhancers	Stomach Smooth Muscle	stomach
13	chr10:55406400-55407200	Enhancers	Fetal Brain Male	brain
14	chr10:55406600-55409000	Enhancers	Fetal Lung	lung
15	chr10:55407400-55408400	Weak transcription	Fetal Stomach	stomach
16	chr10:55408600-55408800	Enhancers	Fetal Stomach	stomach
17	chr10:55417600-55418400	Enhancers	Fetal Heart	heart
18	chr10:55418400-55424200	Weak transcription	Fetal Heart	heart
19	chr10:55422400-55423000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr10:55422400-55424400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:55422400-55424400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr10:55423000-55423400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:55423400-55426600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:55423600-55424200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr10:55423800-55424200	Enhancers	Fetal Lung	lung
26	chr10:55424000-55424200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr10:55424000-55424400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr10:55424000-55425000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:55424000-55425000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr10:55424200-55424400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:55424200-55424400	Active TSS	Adipose Nuclei	Adipose
32	chr10:55424200-55424600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:55424200-55424600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr10:55424200-55424600	Active TSS	Fetal Kidney	kidney
35	chr10:55424200-55424600	Active TSS	Stomach Smooth Muscle	stomach
36	chr10:55424200-55424800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:55424200-55424800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr10:55424200-55424800	Flanking Active TSS	Fetal Lung	lung
39	chr10:55424200-55424800	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr10:55424200-55425000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:55424200-55425000	Enhancers	Fetal Heart	heart
42	chr10:55424200-55425000	Enhancers	Fetal Intestine Small	intestine
43	chr10:55424200-55425000	Enhancers	Fetal Stomach	stomach
44	chr10:55424400-55424600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr10:55424400-55424800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr10:55424400-55424800	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr10:55424400-55424800	Enhancers	Liver	Liver
48	chr10:55424400-55424800	Enhancers	Brain Anterior Caudate	brain
49	chr10:55424400-55424800	Enhancers	Colonic Mucosa	Colon
50	chr10:55424400-55424800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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