Variant report

Variant	nsv6212
Chromosome Location	chr8:59435671-59451750
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:19)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:59425928..59427562-chr8:59435770..59438126,2	K562	blood:
2	chr8:59451742..59454115-chr8:59463190..59465517,2	K562	blood:
3	chr8:59433987..59437389-chr8:59439305..59441373,3	K562	blood:
4	chr8:59450882..59454207-chr8:59464324..59467091,4	MCF-7	breast:
5	chr8:59434915..59437240-chr8:59469391..59471843,2	MCF-7	breast:
6	chr8:59447800..59450426-chr8:59464747..59467187,4	K562	blood:
7	chr8:59445891..59447570-chr8:59464985..59467075,2	MCF-7	breast:
8	chr8:59447309..59450052-chr8:59455909..59457687,2	MCF-7	breast:
9	chr8:59371203..59372638-chr8:59447082..59447994,4	MCF-7	breast:
10	chr8:59433987..59437389-chr8:59439305..59441373,3	K562	blood:
11	chr8:59441549..59444066-chr8:59464694..59467418,3	K562	blood:
12	chr8:59450812..59452465-chr8:59452507..59454122,2	MCF-7	breast:
13	chr8:59433987..59436309-chr8:59439305..59441373,2	K562	blood:
14	chr8:59384822..59386682-chr8:59446581..59449545,2	K562	blood:
15	chr8:59433987..59436309-chr8:59439305..59441373,2	K562	blood:
16	chr8:59437757..59440570-chr8:59464434..59466079,2	K562	blood:
17	chr8:59448267..59450603-chr8:59464187..59466425,3	K562	blood:
18	chr8:59430334..59433432-chr8:59437534..59439556,3	K562	blood:
19	chr8:59438563..59440358-chr8:59464791..59467161,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SDCBP-1	chr8:59439455-59439891	XLOC_006811
2	lnc-SDCBP-1	chr8:59439455-59439891	XLOC_006811

No data

Variant related genes	Relation type
ENSG00000137575	chromatin interactions
PI4K2B	miRNA target sites

Extended variants
information (count: 513 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551311717	chr8:59435677-59435678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571342359	chr8:59435701-59435702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537283191	chr8:59435747-59435748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556757418	chr8:59435848-59435849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567374895	chr8:59435860-59435861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535836740	chr8:59435875-59435876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188090225	chr8:59435878-59435879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115251860	chr8:59435882-59435883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78912081	chr8:59435884-59435885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191618540	chr8:59436109-59436110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558523898	chr8:59436113-59436114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78555501	chr8:59436187-59436188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544017827	chr8:59436190-59436191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532954821	chr8:59436192-59436193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10110065	chr8:59436221-59436222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs76636997	chr8:59436259-59436260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542567627	chr8:59436309-59436310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569957063	chr8:59436312-59436313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528509091	chr8:59436327-59436328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142316229	chr8:59436362-59436363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551244180	chr8:59436386-59436387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571543644	chr8:59436396-59436397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535251016	chr8:59436438-59436439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530590083	chr8:59436448-59436449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555177922	chr8:59436473-59436474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550765848	chr8:59436539-59436540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567209258	chr8:59436557-59436558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115103106	chr8:59436575-59436576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553150803	chr8:59436599-59436600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7831753	chr8:59436608-59436609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538667418	chr8:59436623-59436624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183764573	chr8:59436630-59436631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72647424	chr8:59436655-59436656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs554065782	chr8:59436660-59436661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543613182	chr8:59436661-59436662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565822543	chr8:59436662-59436663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557536158	chr8:59436673-59436674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61150724	chr8:59436695-59436696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542705075	chr8:59436727-59436728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372111353	chr8:59436730-59436731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559451691	chr8:59436774-59436775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375136953	chr8:59436781-59436782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572877382	chr8:59436822-59436823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545020930	chr8:59436990-59436991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554242012	chr8:59436991-59436992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564996736	chr8:59437060-59437061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530841744	chr8:59437075-59437076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550455266	chr8:59437088-59437089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577121818	chr8:59437095-59437096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367998902	chr8:59437112-59437113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59435400-59442400	Weak transcription	Gastric	stomach
2	chr8:59439000-59439800	Enhancers	Left Ventricle	heart
3	chr8:59439200-59439800	Enhancers	Placenta	Placenta
4	chr8:59439200-59441400	Enhancers	Hela-S3	cervix
5	chr8:59439400-59439600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr8:59439600-59439800	ZNF genes & repeats	Aorta	Aorta
7	chr8:59439600-59439800	Enhancers	Right Atrium	heart
8	chr8:59439600-59440400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:59439600-59440800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:59439600-59441200	Enhancers	Fetal Heart	heart
11	chr8:59439600-59442000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:59439800-59440200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:59439800-59441200	Weak transcription	Placenta	Placenta
14	chr8:59439800-59441200	Weak transcription	Right Atrium	heart
15	chr8:59439800-59442000	Weak transcription	Aorta	Aorta
16	chr8:59439800-59442000	Weak transcription	Left Ventricle	heart
17	chr8:59440000-59440200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:59440000-59440400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:59440200-59441200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:59440400-59441800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:59440400-59465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:59440800-59442200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:59441200-59441600	Weak transcription	Fetal Heart	heart
24	chr8:59441200-59442800	Enhancers	Right Atrium	heart
25	chr8:59441200-59443000	Enhancers	Placenta	Placenta
26	chr8:59441200-59443400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:59441600-59442000	Enhancers	Fetal Heart	heart
28	chr8:59441800-59442400	Enhancers	Adipose Nuclei	Adipose
29	chr8:59441800-59443000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:59442000-59442400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:59442000-59442400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:59442000-59442400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:59442000-59442400	Flanking Active TSS	Fetal Heart	heart
34	chr8:59442000-59442400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr8:59442000-59442800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:59442000-59442800	Enhancers	Aorta	Aorta
37	chr8:59442000-59442800	Enhancers	Fetal Muscle Leg	muscle
38	chr8:59442000-59442800	Enhancers	Pancreas	Pancrea
39	chr8:59442000-59442800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr8:59442000-59443000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:59442000-59443000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:59442000-59443000	Enhancers	Left Ventricle	heart
43	chr8:59442000-59443000	Enhancers	NHDF-Ad	bronchial
44	chr8:59442200-59442600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:59442200-59442600	Enhancers	Right Ventricle	heart
46	chr8:59442200-59442800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr8:59442200-59442800	Enhancers	Rectal Smooth Muscle	rectum
48	chr8:59442200-59442800	Enhancers	Stomach Smooth Muscle	stomach
49	chr8:59442200-59443000	Enhancers	Colon Smooth Muscle	Colon
50	chr8:59442200-59443000	Enhancers	HSMMtube	muscle

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