Variant report

Variant	nsv981968
Chromosome Location	chr8:99794499-99809509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99805802..99807780-chr8:99809302..99811541,2	K562	blood:
2	chr8:99792612..99794533-chr8:99808664..99811217,2	MCF-7	breast:
3	chr8:99808268..99810825-chr8:99820563..99822919,2	K562	blood:
4	chr8:99805802..99807780-chr8:99809302..99811541,2	K562	blood:

Variant related genes	Relation type
ENSG00000240870	chromatin interactions

Extended variants
information (count: 541 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:541 , 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	rs532079878	chr8:99794543-99794544	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs371933889	chr8:99794546-99794547	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs115628986	chr8:99794560-99794561	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs547485168	chr8:99794572-99794573	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565838569	chr8:99794574-99794575	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs368955024	chr8:99794587-99794588	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs569909314	chr8:99794595-99794596	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs538921335	chr8:99794604-99794605	Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs61748298	chr8:99794614-99794615	Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565858266	chr8:99794671-99794672	Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs142926090	chr8:99794724-99794725	Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs554277523	chr8:99794813-99794814	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145361447	chr8:99794827-99794828	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543158376	chr8:99794843-99794844	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556328137	chr8:99794886-99794887	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576262119	chr8:99794909-99794910	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376476007	chr8:99794940-99794941	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545273063	chr8:99794957-99794958	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552813860	chr8:99795007-99795008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs137961237	chr8:99795077-99795078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527989166	chr8:99795190-99795191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34117067	chr8:99795253-99795254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184125684	chr8:99795261-99795262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561175355	chr8:99795275-99795276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187906122	chr8:99795280-99795281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550334146	chr8:99795290-99795291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569845400	chr8:99795318-99795319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532319216	chr8:99795324-99795325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536498639	chr8:99795377-99795378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552417856	chr8:99795382-99795383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565926179	chr8:99795389-99795390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534615846	chr8:99795485-99795486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543675661	chr8:99795506-99795507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554546195	chr8:99795517-99795518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555869119	chr8:99795560-99795561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61271229	chr8:99795568-99795569	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs192585142	chr8:99795628-99795629	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs184971987	chr8:99795631-99795632	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs117806137	chr8:99795717-99795718	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs375675998	chr8:99795748-99795749	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs538810316	chr8:99795769-99795770	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs79803242	chr8:99795790-99795791	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs528346198	chr8:99795803-99795804	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs558890910	chr8:99795884-99795885	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs572698496	chr8:99795890-99795891	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs541403438	chr8:99795917-99795918	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs561320833	chr8:99795922-99795923	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs574916263	chr8:99796001-99796002	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs543861161	chr8:99796063-99796064	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs149458137	chr8:99796120-99796121	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
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
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99775600-99796200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:99776600-99798600	Weak transcription	Fetal Heart	heart
3	chr8:99776800-99797800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:99778600-99796200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:99779000-99796400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:99779000-99796400	Weak transcription	Aorta	Aorta
7	chr8:99779000-99796400	Weak transcription	Fetal Lung	lung
8	chr8:99779400-99796000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:99779400-99796200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:99785000-99796600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:99785200-99796000	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:99785200-99796200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:99789600-99796000	Weak transcription	Fetal Intestine Small	intestine
14	chr8:99789800-99796200	Weak transcription	Fetal Stomach	stomach
15	chr8:99791600-99795800	Weak transcription	A549	lung
16	chr8:99792000-99796200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:99792600-99794600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:99792600-99794800	Enhancers	NHDF-Ad	bronchial
19	chr8:99792800-99795000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:99792800-99796400	Enhancers	Liver	Liver
21	chr8:99793000-99794600	Enhancers	Osteobl	bone
22	chr8:99793000-99794800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:99793000-99794800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:99793000-99794800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:99793000-99794800	Enhancers	HMEC	breast
26	chr8:99793000-99796400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:99793200-99794600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr8:99793200-99794600	Enhancers	NHEK	skin
29	chr8:99793200-99794800	Enhancers	Primary T cells from cord blood	blood
30	chr8:99793200-99794800	Enhancers	Primary hematopoietic stem cells	blood
31	chr8:99793200-99794800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:99793200-99794800	Enhancers	Ovary	ovary
33	chr8:99793200-99794800	Enhancers	Psoas Muscle	Psoas
34	chr8:99793200-99794800	Flanking Active TSS	Dnd41	blood
35	chr8:99793400-99794800	Enhancers	Fetal Thymus	thymus
36	chr8:99793400-99794800	Enhancers	Thymus	Thymus
37	chr8:99793400-99796000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:99793400-99796200	Weak transcription	Brain Substantia Nigra	brain
39	chr8:99793600-99794600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:99793600-99795000	Enhancers	Adipose Nuclei	Adipose
41	chr8:99793600-99796200	Weak transcription	Fetal Intestine Large	intestine
42	chr8:99793600-99796200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr8:99793800-99794600	Weak transcription	Small Intestine	intestine
44	chr8:99793800-99794800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:99793800-99794800	Enhancers	HUVEC	blood vessel
46	chr8:99793800-99796200	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:99793800-99796600	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:99794000-99794600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr8:99794000-99795600	Weak transcription	GM12878-XiMat	blood
50	chr8:99794000-99796400	Weak transcription	HSMMtube	muscle

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