Variant report

Variant	esv3339026
Chromosome Location	chr8:10858742-10862940
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	chr8:10862533-10862884	K562	blood:	n/a	n/a
2	ATF3	chr8:10862595-10862915	K562	blood:	n/a	n/a
3	ATF3	chr8:10862488-10862931	HCT-116	colon:	n/a	n/a
4	CEBPB	chr8:10862544-10862868	HepG2	liver:	n/a	chr8:10862719-10862730
5	CEBPB	chr8:10862595-10862877	H1-hESC	embryonic stem cell:	n/a	chr8:10862719-10862730
6	CEBPB	chr8:10862431-10862996	HCT-116	colon:	n/a	chr8:10862719-10862730
7	CEBPB	chr8:10862575-10862780	K562	blood:	n/a	chr8:10862719-10862730
8	CEBPB	chr8:10862532-10862863	IMR90	lung:	n/a	chr8:10862719-10862730
9	CEBPB	chr8:10862533-10862864	A549	lung:	n/a	chr8:10862719-10862730
10	CEBPB	chr8:10862530-10862891	K562	blood:	n/a	chr8:10862719-10862730
11	CEBPB	chr8:10862555-10862874	K562	blood:	n/a	chr8:10862719-10862730
12	CEBPB	chr8:10862534-10862890	Hela-S3	cervix:	n/a	chr8:10862719-10862730
13	CEBPB	chr8:10862430-10862915	HCT-116	colon:	n/a	chr8:10862719-10862730
14	CTCF	chr8:10859880-10860030	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr8:10859160-10859310	GM12866	blood:	n/a	n/a
16	CTCF	chr8:10860620-10860770	GM12864	blood:	n/a	n/a
17	E2F4	chr8:10862546-10862830	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr8:10862548-10862888	K562	blood:	n/a	n/a
19	FOS	chr8:10862555-10862874	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr8:10862497-10862894	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr8:10862527-10862896	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr8:10862520-10862885	MCF10A-Er-Src	breast:	n/a	n/a
23	JUN	chr8:10862126-10862964	K562	blood:	n/a	n/a
24	JUND	chr8:10860876-10860928	HepG2	liver:	n/a	n/a
25	JUND	chr8:10862506-10862993	K562	blood:	n/a	n/a
26	MAX	chr8:10858491-10858790	NB4	blood:	n/a	chr8:10858604-10858614
27	MAX	chr8:10862574-10862756	K562	blood:	n/a	n/a
28	MYC	chr8:10862533-10863077	K562	blood:	n/a	n/a
29	MYC	chr8:10862541-10862896	MCF10A-Er-Src	breast:	n/a	n/a
30	MYC	chr8:10862562-10862863	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr8:10862612-10862842	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr8:10862560-10862831	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10861649..10864572-chr8:10871901..10875246,3	K562	blood:
2	chr8:10857972..10860249-chr8:10861923..10863991,2	K562	blood:

Variant related genes	Relation type
XKR6	TF binding region
ENSG00000171044	chromatin interactions

Extended variants
information (count: 251 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556879455	chr8:10858749-10858750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57130234	chr8:10858762-10858763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs549458434	chr8:10858830-10858831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557739372	chr8:10858872-10858873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574447260	chr8:10858979-10858980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543534769	chr8:10859004-10859005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116630070	chr8:10859020-10859021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187500929	chr8:10859067-10859068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573481836	chr8:10859089-10859090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60599737	chr8:10859113-10859114	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73662668	chr8:10859119-10859120	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs192347272	chr8:10859131-10859132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544959288	chr8:10859133-10859134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560526144	chr8:10859158-10859159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369950774	chr8:10859166-10859167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549433610	chr8:10859171-10859172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73662669	chr8:10859191-10859192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs73539359	chr8:10859225-10859226	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550418150	chr8:10859300-10859301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528255690	chr8:10859330-10859331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571603821	chr8:10859331-10859332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534098224	chr8:10859332-10859333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566461331	chr8:10859343-10859344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533581699	chr8:10859345-10859346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555426538	chr8:10859354-10859355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573419150	chr8:10859404-10859405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542034232	chr8:10859441-10859442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73539361	chr8:10859442-10859443	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558522143	chr8:10859458-10859459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373239961	chr8:10859466-10859467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567258182	chr8:10859483-10859484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147142611	chr8:10859503-10859504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535834519	chr8:10859525-10859526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556261969	chr8:10859538-10859539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527669640	chr8:10859557-10859558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541621602	chr8:10859576-10859577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201393906	chr8:10859587-10859588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374383885	chr8:10859588-10859589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542669417	chr8:10859590-10859591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147906725	chr8:10859592-10859593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373388099	chr8:10859614-10859615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550356915	chr8:10859642-10859643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73539366	chr8:10859643-10859644	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73662670	chr8:10859652-10859653	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs76948580	chr8:10859689-10859690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140391843	chr8:10859690-10859691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77839235	chr8:10859713-10859714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73539367	chr8:10859746-10859747	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs184033382	chr8:10859764-10859765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187799458	chr8:10859768-10859769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10855600-10859600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:10855600-10859600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:10855800-10859200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:10855800-10859200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:10856000-10859400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:10856200-10864800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:10856400-10859000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:10856400-10859200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:10856400-10859200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:10856400-10859200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:10856400-10859200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:10856400-10859600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:10858400-10859400	Enhancers	Brain Hippocampus Middle	brain
14	chr8:10858400-10860200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr8:10858600-10859200	Enhancers	Brain Substantia Nigra	brain
16	chr8:10859000-10859400	Enhancers	Brain Angular Gyrus	brain
17	chr8:10859000-10859800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:10859200-10859800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:10859200-10860000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:10859200-10860000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:10859200-10860000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:10859200-10860200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr8:10859200-10860200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:10859200-10860200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:10859200-10860200	Enhancers	Esophagus	oesophagus
26	chr8:10859200-10860400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:10859200-10860400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr8:10859400-10860000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr8:10859400-10865200	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:10859400-10872200	Weak transcription	Brain Angular Gyrus	brain
31	chr8:10859600-10859800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:10859600-10860000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:10859600-10860200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:10859600-10860400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:10859600-10860600	Enhancers	Brain Germinal Matrix	brain
36	chr8:10859800-10864800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:10860000-10860200	Enhancers	Brain Anterior Caudate	brain
38	chr8:10860000-10864800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:10860000-10864800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr8:10860000-10865000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:10860000-10865000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:10860000-10865000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:10860200-10864800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr8:10860200-10865000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:10862200-10862800	Enhancers	HMEC	breast
46	chr8:10862400-10862800	Enhancers	NHEK	skin

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