Variant report

Variant	esv3342946
Chromosome Location	chr8:48778448-48802085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:305)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr8:48790878-48791451	GM12878	blood:	n/a	n/a
2	ATF2	chr8:48790887-48791278	GM12878	blood:	n/a	n/a
3	BATF	chr8:48793513-48793779	GM12878	blood:	n/a	n/a
4	BATF	chr8:48790867-48791261	GM12878	blood:	n/a	n/a
5	BATF	chr8:48790997-48791260	GM12878	blood:	n/a	n/a
6	BATF	chr8:48793523-48793761	GM12878	blood:	n/a	n/a
7	BCL11A	chr8:48790974-48791250	GM12878	blood:	n/a	n/a
8	BCL11A	chr8:48793561-48793698	GM12878	blood:	n/a	n/a
9	BCL11A	chr8:48790939-48791328	GM12878	blood:	n/a	n/a
10	BCL11A	chr8:48793543-48793715	GM12878	blood:	n/a	n/a
11	BCL3	chr8:48790934-48791243	GM12878	blood:	n/a	n/a
12	BCL3	chr8:48794872-48795246	GM12878	blood:	n/a	n/a
13	BCL3	chr8:48790954-48791213	GM12878	blood:	n/a	n/a
14	BCLAF1	chr8:48790870-48791376	GM12878	blood:	n/a	n/a
15	BCLAF1	chr8:48790889-48791264	GM12878	blood:	n/a	n/a
16	CTCF	chr8:48796288-48796551	MCF-7	breast:	n/a	n/a
17	CTCF	chr8:48793634-48793741	ProgFib	skin:	n/a	n/a
18	CTCF	chr8:48793600-48793750	HPF	lung:	n/a	n/a
19	CTCF	chr8:48796287-48796539	MCF-7	breast:	n/a	n/a
20	CTCF	chr8:48796500-48796650	GM12870	blood:	n/a	n/a
21	CTCF	chr8:48796279-48796544	MCF-7	breast:	n/a	n/a
22	CTCF	chr8:48796340-48796490	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr8:48781660-48781810	GM12864	blood:	n/a	n/a
24	CTCF	chr8:48793500-48793650	HPF	lung:	n/a	n/a
25	CTCF	chr8:48781660-48781810	GM12878	blood:	n/a	n/a
26	CTCF	chr8:48796296-48796548	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:48796300-48796450	GM12870	blood:	n/a	n/a
28	CTCF	chr8:48796344-48796462	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr8:48793678-48793732	Lung_OC	lung:	n/a	n/a
30	CTCF	chr8:48781620-48781770	GM12873	blood:	n/a	n/a
31	CTCF	chr8:48793553-48793670	Lung_OC	lung:	n/a	n/a
32	CTCF	chr8:48781680-48781830	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr8:48781540-48781790	HCFaa	heart:	n/a	n/a
34	CTCF	chr8:48793636-48793658	Pancreas_OC	pancreas:	n/a	n/a
35	CTCF	chr8:48793520-48793670	GM12869	blood:	n/a	n/a
36	CTCF	chr8:48793539-48793659	GM10248	blood:	n/a	n/a
37	CTCF	chr8:48796300-48796450	MCF-7	breast:	n/a	n/a
38	CTCF	chr8:48781620-48781770	MCF-7	breast:	n/a	n/a
39	CTCF	chr8:48796400-48796550	A549	lung:	n/a	n/a
40	CTCF	chr8:48793630-48793761	MCF-7	breast:	n/a	n/a
41	CTCF	chr8:48796354-48796434	GM19240	blood:	n/a	n/a
42	CTCF	chr8:48793500-48793650	GM12875	blood:	n/a	n/a
43	CTCF	chr8:48781600-48781750	GM12874	blood:	n/a	n/a
44	CTCF	chr8:48781740-48781890	GM12873	blood:	n/a	n/a
45	CTCF	chr8:48781640-48781790	AoAF	blood vessel:	n/a	n/a
46	CTCF	chr8:48793540-48793690	HMF	breast:	n/a	n/a
47	CTCF	chr8:48781660-48781810	GM12872	blood:	n/a	n/a
48	CTCF	chr8:48793600-48793750	GM12865	blood:	n/a	n/a
49	CTCF	chr8:48796363-48796455	LNCaP	prostate:	n/a	n/a
50	CTCF	chr8:48796141-48796536	MCF-7	breast:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:48777637..48780299-chr8:48781061..48783463,2	K562	blood:
2	chr8:48777971..48781405-chr8:48784678..48787276,4	K562	blood:
3	chr8:48798660..48800661-chr8:48801685..48803996,3	K562	blood:
4	chr14:40316700..40317200-chr8:48779245..48779746,2	Hela-S3	cervix:
5	chr8:48777971..48781405-chr8:48784678..48787276,4	K562	blood:
6	chr8:48777637..48780299-chr8:48781061..48783463,2	K562	blood:
7	chr8:48799441..48801272-chr8:48808121..48809759,2	K562	blood:
8	chr8:48787397..48789499-chr8:48791391..48793520,2	K562	blood:
9	chr8:48783935..48786261-chr8:48795994..48797522,2	K562	blood:
10	chr8:48787397..48789499-chr8:48791391..48793520,2	K562	blood:
11	chr8:48777971..48781405-chr8:48784678..48787276,3	K562	blood:
12	chr8:48775024..48776712-chr8:48799790..48801696,2	MCF-7	breast:
13	chr8:48789709..48791462-chr8:48833896..48836311,2	K562	blood:
14	chr8:48799441..48801873-chr8:48806998..48809759,3	K562	blood:
15	chr8:48795937..48796818-chr8:49837936..49838689,2	MCF-7	breast:
16	chr8:48777971..48781405-chr8:48784678..48787276,3	K562	blood:
17	chr8:48783935..48786261-chr8:48795994..48797522,2	K562	blood:

No data

Variant related genes	Relation type
PRKDC	TF binding region
ENSG00000211562	TF binding region
ENSG00000211562	chromatin interactions

Extended variants
information (count: 879 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:879 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34754731	chr8:48778474-48778475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549754592	chr8:48778508-48778509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112513898	chr8:48778519-48778520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548527939	chr8:48778539-48778540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566945981	chr8:48778589-48778590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546326112	chr8:48778686-48778687	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs566114924	chr8:48778712-48778713	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs373138566	chr8:48778718-48778719	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs79880205	chr8:48778739-48778740	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs74503994	chr8:48778741-48778742	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs145738500	chr8:48778769-48778770	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs189615105	chr8:48778774-48778775	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs368053247	chr8:48778787-48778788	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs140617635	chr8:48778805-48778806	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs558447480	chr8:48778816-48778817	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs144375062	chr8:48778817-48778818	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs371634754	chr8:48778866-48778867	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs567836023	chr8:48778909-48778910	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs375079899	chr8:48778935-48778936	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs180841667	chr8:48778991-48778992	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs569335584	chr8:48779029-48779030	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs568763995	chr8:48779081-48779082	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369584602	chr8:48779086-48779087	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536761014	chr8:48779189-48779190	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554973011	chr8:48779222-48779223	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573215595	chr8:48779233-48779234	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372005132	chr8:48779240-48779241	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185693997	chr8:48779248-48779249	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190254644	chr8:48779258-48779259	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569421744	chr8:48779335-48779336	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539760889	chr8:48779360-48779361	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551537214	chr8:48779406-48779407	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113102115	chr8:48779416-48779417	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544352337	chr8:48779422-48779423	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562751821	chr8:48779430-48779431	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376376478	chr8:48779451-48779452	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530487331	chr8:48779488-48779489	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542342874	chr8:48779499-48779500	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117276485	chr8:48779501-48779502	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528130183	chr8:48779530-48779531	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577055607	chr8:48779586-48779587	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566770434	chr8:48779625-48779626	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546575200	chr8:48779647-48779648	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181674714	chr8:48779664-48779665	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534017663	chr8:48779711-48779712	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75611423	chr8:48779742-48779743	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117748596	chr8:48779753-48779754	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569096547	chr8:48779771-48779772	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146601927	chr8:48780023-48780024	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs555132494	chr8:48780049-48780050	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
22q11 deletion syndrome	20357662	CNVD
Autism	20531469	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48684400-48778800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:48684400-48861600	Strong transcription	Dnd41	blood
3	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
4	chr8:48722200-48778600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr8:48722600-48798800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:48723000-48793400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:48726000-48778800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr8:48726200-48793400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:48726400-48783200	Strong transcription	GM12878-XiMat	blood
10	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:48738400-48818800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:48739600-48783200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:48739600-48793400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:48739600-48799400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:48739600-48822200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:48739600-48870600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:48739800-48779200	Strong transcription	Adipose Nuclei	Adipose
19	chr8:48739800-48793400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:48739800-48870400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:48751400-48805800	Strong transcription	Fetal Lung	lung
22	chr8:48754000-48782400	Strong transcription	Liver	Liver
23	chr8:48755600-48781800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr8:48756600-48793400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:48758200-48799600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:48759000-48779000	Strong transcription	Placenta	Placenta
27	chr8:48759200-48785000	Strong transcription	Hela-S3	cervix
28	chr8:48759600-48783800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr8:48759600-48784200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:48759800-48778800	Strong transcription	Fetal Intestine Large	intestine
31	chr8:48759800-48783600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:48759800-48784000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr8:48759800-48808400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr8:48760200-48783600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:48760600-48779000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr8:48760600-48783200	Strong transcription	Fetal Muscle Leg	muscle
37	chr8:48760800-48779600	Strong transcription	Fetal Stomach	stomach
38	chr8:48761000-48793400	Strong transcription	Primary B cells from cord blood	blood
39	chr8:48761200-48778600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:48761400-48779800	Strong transcription	Fetal Intestine Small	intestine
41	chr8:48761800-48778800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:48762400-48786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:48771800-48786600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:48773000-48784000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:48775200-48796000	Weak transcription	Small Intestine	intestine
46	chr8:48775400-48786200	Weak transcription	Fetal Brain Male	brain
47	chr8:48775400-48788600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:48775400-48800200	Weak transcription	Stomach Mucosa	stomach
49	chr8:48775600-48791400	Weak transcription	Fetal Heart	heart
50	chr8:48776400-48778600	Strong transcription	Lung	lung

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