Variant report

Variant	nsv1025575
Chromosome Location	chr8:59609825-59632135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:59569876..59572036-chr8:59629639..59633280,4	K562	blood:
2	chr8:59425486..59426187-chr8:59614319..59614923,2	K562	blood:
3	chr8:59471998..59473866-chr8:59612178..59614856,2	K562	blood:
4	chr8:59569876..59571753-chr8:59630523..59633280,2	K562	blood:
5	chr8:59492385..59492924-chr8:59613980..59614521,2	K562	blood:
6	chr8:59623611..59626504-chr8:59628202..59631165,3	K562	blood:
7	chr8:59371854..59372897-chr8:59614036..59614890,5	K562	blood:
8	chr8:59570231..59572526-chr8:59612952..59614876,2	MCF-7	breast:
9	chr8:59554274..59556738-chr8:59613834..59616221,2	K562	blood:
10	chr8:59615246..59617942-chr8:59627091..59629665,2	K562	blood:
11	chr8:59571856..59573746-chr8:59614192..59616705,2	K562	blood:
12	chr8:59465091..59467198-chr8:59613336..59616272,2	K562	blood:
13	chr8:59623611..59626504-chr8:59628202..59631165,3	K562	blood:
14	chr8:59615246..59617942-chr8:59627091..59629665,2	K562	blood:
15	chr8:59371866..59372422-chr8:59614010..59614968,2	MCF-7	breast:
16	chr8:59520861..59521820-chr8:59613981..59614896,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137575	chromatin interactions
ENSG00000035681	chromatin interactions

Extended variants
information (count: 571 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183748806	chr8:59611208-59611209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs543139349	chr8:59611209-59611210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs188467675	chr8:59611212-59611213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs559891323	chr8:59611216-59611217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs181488108	chr8:59611234-59611235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs370901613	chr8:59611235-59611236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs185047334	chr8:59611251-59611252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs373182152	chr8:59611268-59611269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs565158489	chr8:59611285-59611286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs376194047	chr8:59611320-59611321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs574129349	chr8:59611330-59611331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs190264309	chr8:59611336-59611337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs370575390	chr8:59611381-59611382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs567341779	chr8:59611390-59611391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs10093613	chr8:59611415-59611416	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558655939	chr8:59611421-59611422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs113865459	chr8:59611476-59611477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs367953778	chr8:59611496-59611497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs181919156	chr8:59611524-59611525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs558242971	chr8:59611544-59611545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs575230392	chr8:59611564-59611565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs568753038	chr8:59611575-59611576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs10109737	chr8:59611595-59611596	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs4738714	chr8:59611629-59611630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs72647478	chr8:59611656-59611657	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs531856795	chr8:59611674-59611675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs16923672	chr8:59611708-59611709	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs574639003	chr8:59611722-59611723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs374769689	chr8:59611731-59611732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs559852079	chr8:59611732-59611733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs10109961	chr8:59611753-59611754	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs186423017	chr8:59611762-59611763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs565122798	chr8:59611804-59611805	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553526042	chr8:59611824-59611825	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530977321	chr8:59611825-59611826	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144598306	chr8:59611837-59611838	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139364255	chr8:59611903-59611904	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529802414	chr8:59611921-59611922	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546408684	chr8:59611925-59611926	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566355399	chr8:59611931-59611932	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532062727	chr8:59611944-59611945	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114612956	chr8:59611972-59611973	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191188906	chr8:59612011-59612012	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568757041	chr8:59612021-59612022	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180799704	chr8:59612036-59612037	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78765470	chr8:59612043-59612044	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144150718	chr8:59612080-59612081	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77487880	chr8:59612112-59612113	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553581808	chr8:59612129-59612130	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs28489822	chr8:59612804-59612805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

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
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	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
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59611200-59612200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:59611800-59612200	Enhancers	Rectal Smooth Muscle	rectum
3	chr8:59612800-59613400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:59614000-59614400	Enhancers	Colon Smooth Muscle	Colon
5	chr8:59617600-59618000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:59617600-59618200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:59617600-59618400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:59617600-59618600	Enhancers	Dnd41	blood
9	chr8:59617800-59618200	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:59617800-59618200	Enhancers	K562	blood
11	chr8:59618000-59618600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:59623600-59627800	Weak transcription	Small Intestine	intestine
13	chr8:59625600-59625800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr8:59625600-59627000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr8:59625600-59628800	Enhancers	Fetal Intestine Large	intestine
16	chr8:59625800-59628200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:59626000-59626800	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr8:59626000-59627200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:59626000-59629000	Enhancers	Fetal Intestine Small	intestine
20	chr8:59626200-59626400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr8:59626200-59626400	Enhancers	Colonic Mucosa	Colon
22	chr8:59626200-59626400	Enhancers	Dnd41	blood
23	chr8:59626200-59626600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:59626200-59626800	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr8:59626200-59627000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr8:59626200-59627000	Enhancers	Primary B cells from peripheral blood	blood
27	chr8:59626200-59627000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:59626200-59627000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr8:59626200-59627200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr8:59626200-59627400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr8:59626400-59626600	Enhancers	K562	blood
32	chr8:59626400-59626800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr8:59626400-59626800	Active TSS	Duodenum Mucosa	Duodenum
34	chr8:59626400-59626800	Flanking Active TSS	Dnd41	blood
35	chr8:59626400-59627000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:59626400-59627000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr8:59626400-59627000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:59626400-59627200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:59626400-59627200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr8:59626400-59627400	Enhancers	Colon Smooth Muscle	Colon
41	chr8:59626600-59626800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:59626600-59626800	Enhancers	Thymus	Thymus
43	chr8:59626600-59627000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr8:59626600-59627000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:59626600-59627000	Enhancers	Stomach Mucosa	stomach
46	chr8:59626600-59627200	Enhancers	Primary B cells from cord blood	blood
47	chr8:59626600-59628200	Weak transcription	K562	blood
48	chr8:59626600-59628800	Enhancers	Primary T cells from cord blood	blood
49	chr8:59626800-59627000	Enhancers	Primary hematopoietic stem cells	blood
50	chr8:59626800-59627000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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