Variant report

Variant	esv1796972
Chromosome Location	chr8:1492839-1501992
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:1770)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:1496833-1497035	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr8:1500560-1500710	SK-N-SH_RA	brain:	n/a	chr8:1500560-1500578
3	CTCF	chr8:1500520-1500670	SK-N-SH_RA	brain:	n/a	chr8:1500560-1500578
4	CTCF	chr8:1496744-1497092	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr8:1496751-1497094	H1-hESC	embryonic stem cell:	n/a	n/a
6	GABPA	chr8:1496765-1497120	H1-hESC	embryonic stem cell:	n/a	n/a
7	GABPA	chr8:1496804-1497201	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr8:1494078-1507692	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr8:1499539-1500848	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr8:1496585-1499419	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr8:1492833-1494070	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr8:1501369-1507559	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr8:1488356-1492959	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr8:1493405-1496582	PFSK-1	brain:	n/a	n/a
15	RAD21	chr8:1496641-1497179	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr8:1496777-1497046	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr8:1496787-1496996	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr8:1495697-1495946	PFSK-1	brain:	n/a	n/a
19	TAF1	chr8:1495715-1495966	PFSK-1	brain:	n/a	n/a
20	ZNF143	chr8:1496872-1497008	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1770 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1501670-1501720	LNCaP	prostate:	n/a
2	chr8:1501670-1501720	LNCaP	prostate:	n/a
3	chr8:1496052-1496102	ECC-1	luminal epithelium:	n/a
4	chr8:1496732-1496782	GM19239	blood:	n/a
5	chr8:1494546-1494596	NHBE	bronchial:	n/a
6	chr8:1501458-1501508	AG09309	skin:	n/a
7	chr8:1497078-1497128	NHBE	bronchial:	n/a
8	chr8:1501561-1501611	HIPEpiC	eye:	n/a
9	chr8:1495169-1495219	SKMC	muscle:	n/a
10	chr8:1495025-1495075	HEK293	kidney:	embryo
11	chr8:1500789-1500839	AG09309	skin:	n/a
12	chr8:1496711-1496761	Caco-2	colon:	n/a
13	chr8:1495169-1495219	HL-60	blood:	n/a
14	chr8:1500501-1500551	AoSMC	blood vessel:	n/a
15	chr8:1500501-1500551	PrEC	prostate:	n/a
16	chr8:1497608-1497658	CMK	blood:	n/a
17	chr8:1499742-1499792	ovcar-3	ovarian:	n/a
18	chr8:1496759-1496809	Caco-2	colon:	n/a
19	chr8:1501898-1501948	PFSK-1	brain:	n/a
20	chr8:1495169-1495219	PANC-1	pancreas:	n/a
21	chr8:1500789-1500839	AoSMC	blood vessel:	n/a
22	chr8:1499742-1499792	SK-N-MC	brain:	n/a
23	chr8:1497307-1497357	RPTEC	kidney:	n/a
24	chr8:1495332-1495382	HMEC	breast:	n/a
25	chr8:1498266-1498316	IMR90	lung:	fetal
26	chr8:1497608-1497658	BJ	skin:	n/a
27	chr8:1501640-1501690	CMK	blood:	n/a
28	chr8:1501670-1501720	NHBE	bronchial:	n/a
29	chr8:1496732-1496782	T-47D	breast:	n/a
30	chr8:1500367-1500417	HCM	heart:	n/a
31	chr8:1501561-1501611	AG10803	skin:	n/a
32	chr8:1495025-1495075	H1-hESC	embryonic stem cell:	embryo
33	chr8:1501898-1501948	HAEpiC	amniotic membrane:	n/a
34	chr8:1496347-1496397	SAEC	small airway:	n/a
35	chr8:1496347-1496397	ProgFib	skin:	n/a
36	chr8:1499742-1499792	MCF10A-Er-Src	breast:	n/a
37	chr8:1501226-1501276	HCT-116	colon:	n/a
38	chr8:1501898-1501948	CMK	blood:	n/a
39	chr8:1495289-1495339	MCF-7	breast:	n/a
40	chr8:1499742-1499792	NB4	blood:	n/a
41	chr8:1500789-1500839	GM12891	blood:	n/a
42	chr8:1497878-1497928	NH-A	brain:	n/a
43	chr8:1497078-1497128	ECC-1	luminal epithelium:	n/a
44	chr8:1500501-1500551	Hela-S3	cervix:	n/a
45	chr8:1500789-1500839	MCF-7	breast:	n/a
46	chr8:1496711-1496761	IMR90	lung:	fetal
47	chr8:1495185-1495235	AG04449	skin:	fetal
48	chr8:1496732-1496782	Caco-2	colon:	n/a
49	chr8:1501640-1501690	GM12891	blood:	n/a
50	chr8:1497078-1497128	AG04449	skin:	fetal

No data

Variant related genes	Relation type
DLGAP2	TF binding region
DLGAP2	CpG island

Extended variants
information (count: 606 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6994849	chr8:1492839-1492840	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529653453	chr8:1492848-1492849	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs549504266	chr8:1492865-1492866	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs563447327	chr8:1492879-1492880	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs532226020	chr8:1492880-1492881	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs552436354	chr8:1492899-1492900	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs35617361	chr8:1492901-1492902	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs80168858	chr8:1492914-1492915	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs556982391	chr8:1492925-1492926	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs575597968	chr8:1492954-1492955	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs534095620	chr8:1492974-1492975	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs565845910	chr8:1492992-1492993	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs372933792	chr8:1493033-1493034	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs548418695	chr8:1493034-1493035	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs112868481	chr8:1493047-1493048	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs77033714	chr8:1493144-1493145	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539688993	chr8:1493146-1493147	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs370552402	chr8:1493153-1493154	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs570160366	chr8:1493166-1493167	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs186050765	chr8:1493185-1493186	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs6995384	chr8:1493195-1493196	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs141441886	chr8:1493215-1493216	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs541337399	chr8:1493225-1493226	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs146976388	chr8:1493231-1493232	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs116470481	chr8:1493234-1493235	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs543437010	chr8:1493235-1493236	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs191748495	chr8:1493239-1493240	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs532260751	chr8:1493243-1493244	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs562267730	chr8:1493256-1493257	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs545887099	chr8:1493282-1493283	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs559592587	chr8:1493287-1493288	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs528253352	chr8:1493289-1493290	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs548070137	chr8:1493318-1493319	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs568389701	chr8:1493337-1493338	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs76776127	chr8:1493370-1493371	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs75693098	chr8:1493376-1493377	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs569677261	chr8:1493388-1493389	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs538766826	chr8:1493434-1493435	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs558578732	chr8:1493444-1493445	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs148029874	chr8:1493454-1493455	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs535272732	chr8:1493494-1493495	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs184038402	chr8:1493534-1493535	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs575114182	chr8:1493539-1493540	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs187242068	chr8:1493543-1493544	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs556938556	chr8:1493548-1493549	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs576862668	chr8:1493566-1493567	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs190862788	chr8:1493575-1493576	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs559529988	chr8:1493596-1493597	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs528190961	chr8:1493642-1493643	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs182098594	chr8:1493669-1493670	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
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
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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1487000-1505200	Weak transcription	Fetal Brain Female	brain
2	chr8:1494400-1494600	Enhancers	Brain Germinal Matrix	brain
3	chr8:1494400-1494800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:1494400-1495000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:1494600-1495000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:1494600-1497200	Weak transcription	Brain Germinal Matrix	brain
7	chr8:1494800-1495200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:1494800-1495200	ZNF genes & repeats	Right Atrium	heart
9	chr8:1495000-1495600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:1495200-1496800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:1495400-1495800	Enhancers	Spleen	Spleen
12	chr8:1495800-1496800	Weak transcription	Spleen	Spleen
13	chr8:1495800-1500200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:1496000-1501200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:1496400-1506800	Weak transcription	Brain Angular Gyrus	brain
16	chr8:1496800-1497400	ZNF genes & repeats	Spleen	Spleen
17	chr8:1496800-1498000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:1496800-1500200	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:1497200-1497800	ZNF genes & repeats	Brain Germinal Matrix	brain
20	chr8:1497800-1499800	Weak transcription	Brain Germinal Matrix	brain
21	chr8:1498000-1502600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:1498400-1501200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:1499400-1500800	Bivalent Enhancer	Fetal Stomach	stomach
24	chr8:1499600-1499800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr8:1499600-1500000	Enhancers	Rectal Smooth Muscle	rectum
26	chr8:1499800-1500000	Enhancers	Brain Germinal Matrix	brain
27	chr8:1499800-1500200	Enhancers	Colon Smooth Muscle	Colon
28	chr8:1499800-1500200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr8:1499800-1500600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:1500000-1500400	Weak transcription	Brain Germinal Matrix	brain
31	chr8:1500000-1500400	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr8:1500000-1500600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
33	chr8:1500200-1500400	Enhancers	Fetal Brain Male	brain
34	chr8:1500200-1500600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:1500200-1500600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:1500200-1500600	Enhancers	Brain Hippocampus Middle	brain
37	chr8:1500200-1500600	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr8:1500200-1500600	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr8:1500200-1500600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr8:1500200-1500800	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr8:1500400-1500600	Active TSS	Rectal Smooth Muscle	rectum
42	chr8:1500400-1500600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
43	chr8:1500400-1501000	Weak transcription	Fetal Brain Male	brain
44	chr8:1500400-1501400	Enhancers	Brain Germinal Matrix	brain
45	chr8:1500400-1501600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:1500600-1500800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr8:1500600-1500800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr8:1500600-1501400	Enhancers	Colon Smooth Muscle	Colon
49	chr8:1500600-1503400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:1500800-1501200	Enhancers	Duodenum Smooth Muscle	Duodenum

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