Variant report

Variant	esv3403820
Chromosome Location	chr8:9083542-9087740
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	CTCF	chr8:9087660-9087810	GM12872	blood:	n/a	n/a
2	CUX1	chr8:9087199-9087210	K562	blood:	n/a	n/a
3	MAFK	chr8:9085828-9085958	HepG2	liver:	n/a	n/a
4	MAFK	chr8:9087514-9087608	HepG2	liver:	n/a	n/a
5	MAFK	chr8:9087503-9087639	HepG2	liver:	n/a	n/a
6	MAX	chr8:9085656-9085749	HepG2	liver:	n/a	chr8:9085661-9085671
7	MAX	chr8:9085594-9085823	H1-hESC	embryonic stem cell:	n/a	chr8:9085639-9085649 chr8:9085661-9085671 chr8:9085649-9085659
8	MAX	chr8:9085574-9085826	NB4	blood:	n/a	chr8:9085639-9085649 chr8:9085661-9085671 chr8:9085649-9085659
9	MYC	chr8:9085792-9085795	K562	blood:	n/a	n/a
10	RFX5	chr8:9084600-9084634	Hela-S3	cervix:	n/a	n/a
11	SUZ12	chr8:9085496-9085775	H1-hESC	embryonic stem cell:	n/a	n/a
12	USF2	chr8:9085547-9085652	HepG2	liver:	n/a	n/a
13	USF2	chr8:9085663-9085679	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9056772..9059082-chr8:9087003..9089013,2	K562	blood:
2	chr8:9069999..9071504-chr8:9082002..9084260,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-10A14.4.1-6	chr8:9084120-9084517	l_3543_chr8:9084119-9097777_placenta

Variant related genes	Relation type
ENSG00000254091	TF binding region

Extended variants
information (count: 245 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567761772	chr8:9083555-9083556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62496288	chr8:9083563-9083564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116997024	chr8:9083580-9083581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2929310	chr8:9083589-9083590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541437508	chr8:9083609-9083610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576894413	chr8:9083619-9083620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76814296	chr8:9083629-9083630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146284654	chr8:9083638-9083639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556355942	chr8:9083639-9083640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576282067	chr8:9083655-9083656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139388414	chr8:9083670-9083671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561954285	chr8:9083694-9083695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566309952	chr8:9083761-9083762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2929309	chr8:9083771-9083772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs936647	chr8:9083779-9083780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551676837	chr8:9083809-9083810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549620144	chr8:9083811-9083812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560256918	chr8:9083825-9083826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141179405	chr8:9083833-9083834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2929454	chr8:9083854-9083855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs79669058	chr8:9083881-9083882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35545979	chr8:9083885-9083886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs118111396	chr8:9083957-9083958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115359858	chr8:9083966-9083967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80024049	chr8:9083981-9083982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568417987	chr8:9084046-9084047	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534199795	chr8:9084068-9084069	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574858788	chr8:9084075-9084076	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547385933	chr8:9084079-9084080	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570334956	chr8:9084092-9084093	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544773814	chr8:9084104-9084105	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2929308	chr8:9084121-9084122	Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs144122468	chr8:9084123-9084124	Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs563137768	chr8:9084124-9084125	Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs77494852	chr8:9084148-9084149	Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs535653002	chr8:9084155-9084156	Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs540844215	chr8:9084165-9084166	Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs572389629	chr8:9084181-9084182	Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs192390182	chr8:9084215-9084216	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs2929307	chr8:9084228-9084229	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7836473	chr8:9084229-9084230	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs546322175	chr8:9084257-9084258	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs536534327	chr8:9084274-9084275	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs62496289	chr8:9084277-9084278	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542041114	chr8:9084292-9084293	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs529915895	chr8:9084329-9084330	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs2929453	chr8:9084341-9084342	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs184623778	chr8:9084375-9084376	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs373608555	chr8:9084398-9084399	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs528404825	chr8:9084409-9084410	Weak transcription Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

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
low-grade B-cell lymphoma tumor	18367492	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
Bladder cancer	21909424	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

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9079200-9088000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:9080800-9084000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:9081000-9083600	Enhancers	HMEC	breast
4	chr8:9081000-9085400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:9081200-9084000	Enhancers	Aorta	Aorta
6	chr8:9081200-9084400	Enhancers	Osteobl	bone
7	chr8:9081400-9084200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:9082800-9088000	Weak transcription	Brain Substantia Nigra	brain
9	chr8:9082800-9088600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:9083000-9087800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:9083000-9087800	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:9083000-9087800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:9083200-9087200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:9083200-9090200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:9084000-9084200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:9084000-9084400	Weak transcription	Aorta	Aorta
17	chr8:9084200-9084400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:9084400-9084600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:9084400-9084600	Flanking Active TSS	Osteobl	bone
20	chr8:9084400-9085000	Enhancers	Aorta	Aorta
21	chr8:9084600-9085000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:9085000-9088000	Weak transcription	Aorta	Aorta
23	chr8:9085400-9085600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:9085400-9086200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:9086400-9086600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:9087000-9088000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:9087000-9088200	Enhancers	Fetal Brain Male	brain
28	chr8:9087200-9088000	Enhancers	Cortex derived primary cultured neurospheres	brain

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