Variant report

Variant	nsv611752
Chromosome Location	chr8:95725758-95726996
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	BRCA1	chr8:95725722-95725975	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr8:95726180-95726225	A549	lung:	n/a	n/a
3	CTCF	chr8:95725760-95725910	GM12867	blood:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
4	CTCF	chr8:95725720-95725870	HAc	cerebellar:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
5	CTCF	chr8:95725669-95725880	A549	lung:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
6	CTCF	chr8:95725633-95725952	K562	blood:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
7	CTCF	chr8:95725614-95725997	K562	blood:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
8	CTCF	chr8:95725660-95725970	Medullo	brain:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
9	CTCF	chr8:95726320-95726470	AG04449	skin:	n/a	n/a
10	CTCF	chr8:95725626-95725989	IMR90	lung:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
11	CTCF	chr8:95725555-95725987	K562	blood:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
12	CTCF	chr8:95725740-95725890	GM12872	blood:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
13	CTCF	chr8:95725604-95725996	HCT-116	colon:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
14	CTCF	chr8:95725800-95725950	HCM	heart:	n/a	n/a
15	CTCF	chr8:95725720-95725870	HBMEC	blood vessel:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
16	CTCF	chr8:95725760-95725910	A549	lung:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
17	CTCF	chr8:95725674-95725921	Spleen_OC	spleen:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
18	CTCF	chr8:95725700-95725850	HRE	kidney:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
19	CTCF	chr8:95725734-95725874	Fibrobl	skin:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
20	CTCF	chr8:95726140-95726290	HRE	kidney:	n/a	n/a
21	CTCF	chr8:95725620-95725770	HAc	cerebellar:	n/a	n/a
22	CTCF	chr8:95725720-95725870	K562	blood:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
23	CTCF	chr8:95725740-95725890	AG04449	skin:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
24	CTCF	chr8:95725680-95725830	GM12871	blood:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
25	CTCF	chr8:95725700-95725850	K562	blood:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
26	CTCF	chr8:95725700-95725850	HRPEpiC	eye:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
27	CTCF	chr8:95725712-95725918	GM13977	blood:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
28	CTCF	chr8:95725684-95725918	Gliobla	brain:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
29	CTCF	chr8:95725680-95725830	BE2_C	brain:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
30	CTCF	chr8:95725680-95725830	SAEC	small airway:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
31	CTCF	chr8:95725720-95725870	Hela-S3	cervix:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
32	CTCF	chr8:95725720-95725870	GM12871	blood:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
33	CTCF	chr8:95725720-95725870	HPF	lung:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
34	CTCF	chr8:95725720-95725870	BJ	skin:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
35	CTCF	chr8:95725740-95725890	HCFaa	heart:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
36	CTCF	chr8:95725700-95725850	GM06990	blood:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
37	CTCF	chr8:95725700-95725850	AG09309	skin:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
38	CTCF	chr8:95725700-95725850	NHDF-neo	bronchial:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
39	CTCF	chr8:95725743-95725872	MCF-7	breast:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
40	CTCF	chr8:95725738-95725884	GM19239	blood:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
41	CTCF	chr8:95725700-95725850	SAEC	small airway:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
42	CTCF	chr8:95725693-95725955	A549	lung:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
43	CTCF	chr8:95725733-95725926	Lung_OC	lung:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
44	CTCF	chr8:95725696-95725920	GM10266	blood:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
45	CTCF	chr8:95725720-95725870	Caco-2	colon:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
46	CTCF	chr8:95725575-95726005	HepG2	liver:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
47	CTCF	chr8:95725740-95725890	HPF	lung:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
48	CTCF	chr8:95725780-95725930	Caco-2	colon:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807
49	CTCF	chr8:95725620-95725770	GM12868	blood:	n/a	n/a
50	CTCF	chr8:95725706-95725938	GM10248	blood:	n/a	chr8:95725784-95725805 chr8:95725790-95725806 chr8:95725789-95725807

No.	Distal block	Cell Line	Cell type
1	chr8:95720591..95722406-chr8:95725655..95728435,2	MCF-7	breast:
2	chr8:95579645..95580492-chr8:95725361..95725931,2	K562	blood:
3	chr8:95623526..95627073-chr8:95722461..95725966,5	MCF-7	breast:
4	chr8:95651278..95654428-chr8:95723706..95727705,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199701	TF binding region
ENSG00000253429	TF binding region
DPY19L4	TF binding region
ENSG00000261437	chromatin interactions
ENSG00000104413	chromatin interactions
ENSG00000253429	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114245543	chr8:95725782-95725783	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs117102017	chr8:95725789-95725790	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs562929106	chr8:95725796-95725797	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs570489348	chr8:95725805-95725806	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs188037862	chr8:95725817-95725818	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs552159161	chr8:95725824-95725825	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs144858215	chr8:95725901-95725902	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs11779415	chr8:95725926-95725927	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs548667905	chr8:95726026-95726027	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs76155463	chr8:95726027-95726028	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs531019974	chr8:95726046-95726047	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs551019677	chr8:95726094-95726095	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs192126865	chr8:95726136-95726137	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs79918250	chr8:95726208-95726209	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs550751940	chr8:95726339-95726340	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs112849471	chr8:95726346-95726347	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs541337249	chr8:95726395-95726396	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs546138152	chr8:95726423-95726424	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs546393094	chr8:95726446-95726447	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs564837589	chr8:95726520-95726521	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs535720213	chr8:95726559-95726560	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs143353327	chr8:95726608-95726609	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs560978598	chr8:95726684-95726685	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs566520911	chr8:95726690-95726691	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs574226521	chr8:95726696-95726697	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs543093076	chr8:95726698-95726699	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs184722826	chr8:95726699-95726700	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs189093913	chr8:95726747-95726748	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs546088001	chr8:95726781-95726782	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs75221306	chr8:95726802-95726803	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs371946276	chr8:95726831-95726832	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs528385999	chr8:95726839-95726840	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs2554404	chr8:95726859-95726860	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs376935483	chr8:95726870-95726871	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs561851721	chr8:95726893-95726894	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs531046451	chr8:95726895-95726896	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95712600-95728800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:95713000-95730600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:95714400-95731400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:95716200-95730800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:95717200-95730800	Weak transcription	Fetal Intestine Small	intestine
6	chr8:95718400-95731400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:95718600-95726200	Weak transcription	NHEK	skin
8	chr8:95718800-95731200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:95719200-95730800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:95719400-95730400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:95719400-95730800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:95719400-95731000	Weak transcription	Placenta	Placenta
13	chr8:95719600-95726200	Weak transcription	HMEC	breast
14	chr8:95719600-95731000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:95719800-95726400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:95719800-95727000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:95719800-95727000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:95719800-95730400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:95720000-95731000	Weak transcription	Fetal Intestine Large	intestine
20	chr8:95720200-95731000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:95720200-95731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:95720400-95730800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:95720600-95726000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:95720800-95726200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:95723000-95731000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:95724600-95731000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:95725200-95730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:95726000-95726800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:95726200-95726600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:95726200-95726600	Enhancers	HMEC	breast
31	chr8:95726200-95726600	Enhancers	NHEK	skin
32	chr8:95726400-95726800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:95726600-95730600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:95726600-95731000	Weak transcription	HMEC	breast
35	chr8:95726600-95731000	Weak transcription	NHEK	skin
36	chr8:95726800-95730800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:95726800-95730800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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