Variant report

Variant	esv275395
Chromosome Location	chr8:110616340-110617562
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	CEBPB	chr8:110616832-110616954	K562	blood:	n/a	n/a
2	IRF3	chr8:110617536-110617558	GM12878	blood:	n/a	n/a
3	MAFF	chr8:110616719-110616859	K562	blood:	n/a	n/a
4	MAFK	chr8:110616694-110616919	HepG2	liver:	n/a	chr8:110616818-110616829

No.	Distal block	Cell Line	Cell type
1	chr8:110598326..110600037-chr8:110615498..110618470,2	K562	blood:
2	chr8:110551172..110552900-chr8:110613869..110616553,2	MCF-7	breast:
3	chr8:110616434..110618096-chr8:110622411..110624046,2	MCF-7	breast:
4	chr17:15971362..15972270-chr8:110616217..110617145,2	MCF-7	breast:

Variant related genes	Relation type
SYBU	TF binding region
ENSG00000141027	chromatin interactions
ENSG00000147642	chromatin interactions
ENSG00000147654	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562382550	chr8:110616340-110616341	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs184793668	chr8:110616415-110616416	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs147632519	chr8:110616438-110616439	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs545706892	chr8:110616439-110616440	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs562831987	chr8:110616462-110616463	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs377530378	chr8:110616465-110616466	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs571234903	chr8:110616488-110616489	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs189526582	chr8:110616557-110616558	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2154658	chr8:110616582-110616583	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs73317062	chr8:110616644-110616645	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs180799769	chr8:110616657-110616658	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs374195288	chr8:110616700-110616701	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs564687000	chr8:110616703-110616704	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs533539094	chr8:110616739-110616740	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs116892901	chr8:110616749-110616750	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs570360858	chr8:110616807-110616808	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs547243786	chr8:110616815-110616816	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs567058975	chr8:110616829-110616830	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs560372873	chr8:110616869-110616870	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs374966896	chr8:110616937-110616938	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs80065544	chr8:110616951-110616952	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs7833753	chr8:110616963-110616964	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs565884669	chr8:110616964-110616965	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs1892759	chr8:110616994-110616995	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs137962813	chr8:110617015-110617016	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs115389670	chr8:110617032-110617033	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371552652	chr8:110617059-110617060	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs533858134	chr8:110617072-110617073	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs556078178	chr8:110617080-110617081	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs576335023	chr8:110617082-110617083	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs541711688	chr8:110617101-110617102	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs555352580	chr8:110617109-110617110	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs572037007	chr8:110617186-110617187	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs3132434	chr8:110617192-110617193	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564196506	chr8:110617229-110617230	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs533043780	chr8:110617231-110617232	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544033789	chr8:110617339-110617340	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571292863	chr8:110617401-110617402	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs186062549	chr8:110617425-110617426	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529590858	chr8:110617438-110617439	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549368093	chr8:110617450-110617451	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566078621	chr8:110617488-110617489	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs528437974	chr8:110617495-110617496	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs145924926	chr8:110617525-110617526	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191400873	chr8:110617544-110617545	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs537922805	chr8:110617562-110617563	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	22341455	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110590200-110654800	Weak transcription	Lung	lung
2	chr8:110607000-110617000	Weak transcription	Hela-S3	cervix
3	chr8:110610600-110618200	Weak transcription	GM12878-XiMat	blood
4	chr8:110610600-110618600	Weak transcription	HMEC	breast
5	chr8:110611800-110617600	Enhancers	Pancreas	Pancrea
6	chr8:110612200-110624200	Weak transcription	Aorta	Aorta
7	chr8:110612400-110616800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:110613000-110617400	Enhancers	HepG2	liver
9	chr8:110613600-110616800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:110613600-110616800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:110613600-110620800	Enhancers	Fetal Intestine Small	intestine
12	chr8:110613800-110617000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:110613800-110618400	Weak transcription	HUVEC	blood vessel
14	chr8:110614000-110616800	Weak transcription	Brain Germinal Matrix	brain
15	chr8:110614000-110616800	Weak transcription	Gastric	stomach
16	chr8:110614000-110617000	Weak transcription	A549	lung
17	chr8:110614000-110619600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:110614200-110618800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:110614200-110619400	Weak transcription	NHLF	lung
20	chr8:110614400-110616800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:110614600-110616800	Weak transcription	Brain Angular Gyrus	brain
22	chr8:110614600-110619600	Weak transcription	Brain Substantia Nigra	brain
23	chr8:110615000-110616800	Weak transcription	NHEK	skin
24	chr8:110615000-110617000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr8:110615200-110616400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:110615200-110617800	Enhancers	Stomach Smooth Muscle	stomach
27	chr8:110615200-110618000	Enhancers	Colon Smooth Muscle	Colon
28	chr8:110615400-110616400	Weak transcription	Brain Anterior Caudate	brain
29	chr8:110615400-110616600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:110615400-110617400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:110615400-110619600	Weak transcription	Esophagus	oesophagus
32	chr8:110615600-110616800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr8:110615600-110617000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:110615600-110618000	Enhancers	Liver	Liver
35	chr8:110615600-110618600	Weak transcription	Colonic Mucosa	Colon
36	chr8:110615600-110620400	Enhancers	Duodenum Mucosa	Duodenum
37	chr8:110615600-110623000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:110615800-110616400	Weak transcription	Right Atrium	heart
39	chr8:110615800-110616600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:110615800-110616800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:110615800-110616800	Enhancers	Small Intestine	intestine
42	chr8:110615800-110619600	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:110615800-110621600	Enhancers	Stomach Mucosa	stomach
44	chr8:110616000-110616600	Weak transcription	Ovary	ovary
45	chr8:110616000-110617200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:110616000-110619000	Weak transcription	Fetal Kidney	kidney
47	chr8:110616000-110619600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:110616200-110616600	Active TSS	Fetal Brain Female	brain
49	chr8:110616200-110616800	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:110616200-110616800	Enhancers	Fetal Brain Male	brain

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