Variant report

Variant	nsv972554
Chromosome Location	chr8:68238796-68244328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:68241911..68248311-chr8:68249689..68253329,8	K562	blood:
2	chr8:68229360..68231750-chr8:68237669..68240298,2	K562	blood:
3	chr8:68241770..68245166-chr8:68254521..68256661,3	MCF-7	breast:
4	chr8:68214120..68216423-chr8:68240634..68243591,2	K562	blood:
5	chr8:68240639..68242876-chr8:68248785..68250663,2	MCF-7	breast:
6	chr8:68244078..68246525-chr8:68246829..68250108,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066777	chromatin interactions
ENSG00000271966	chromatin interactions

Extended variants
information (count: 190 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76183819	chr8:68238821-68238822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77433446	chr8:68238827-68238828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551424141	chr8:68238884-68238885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111269934	chr8:68238895-68238896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557561682	chr8:68238935-68238936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571839953	chr8:68238965-68238966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6987724	chr8:68239000-68239001	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs76602491	chr8:68239042-68239043	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149973741	chr8:68239047-68239048	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573699223	chr8:68239066-68239067	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376043523	chr8:68239112-68239113	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542894466	chr8:68239114-68239115	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562778402	chr8:68239120-68239121	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531393386	chr8:68239139-68239140	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373923134	chr8:68239158-68239159	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs16919062	chr8:68239268-68239269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187164815	chr8:68239287-68239288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190600680	chr8:68239325-68239326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547499305	chr8:68239377-68239378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181385795	chr8:68239419-68239420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145658001	chr8:68239465-68239466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111544152	chr8:68239544-68239545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116059486	chr8:68239547-68239548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570058689	chr8:68239555-68239556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140446436	chr8:68239572-68239573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373343897	chr8:68239585-68239586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376250436	chr8:68239593-68239594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570368817	chr8:68239621-68239622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574270935	chr8:68239631-68239632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538857211	chr8:68239697-68239698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573408824	chr8:68239706-68239707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559137170	chr8:68239728-68239729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370693306	chr8:68239754-68239755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185628200	chr8:68239757-68239758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534544619	chr8:68239844-68239845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553905799	chr8:68239853-68239854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573637669	chr8:68239878-68239879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542683755	chr8:68239904-68239905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556491716	chr8:68239990-68239991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374071725	chr8:68240061-68240062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576314329	chr8:68240072-68240073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544859503	chr8:68240076-68240077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190145364	chr8:68240081-68240082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182920557	chr8:68240082-68240083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187469856	chr8:68240127-68240128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371299999	chr8:68240132-68240133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537425983	chr8:68240163-68240164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148897072	chr8:68240174-68240175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561056589	chr8:68240224-68240225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145504648	chr8:68240229-68240230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Cancer	16751803	CNVD
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	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
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	17142309	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68209600-68252400	Weak transcription	Fetal Kidney	kidney
2	chr8:68211600-68240800	Weak transcription	Fetal Brain Male	brain
3	chr8:68212800-68252400	Weak transcription	Hela-S3	cervix
4	chr8:68218800-68254200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:68220200-68251600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:68220200-68251800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:68220400-68251400	Weak transcription	NHDF-Ad	bronchial
8	chr8:68220400-68251800	Weak transcription	NHLF	lung
9	chr8:68224600-68251800	Weak transcription	HUVEC	blood vessel
10	chr8:68225600-68250200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:68225600-68251600	Weak transcription	Fetal Brain Female	brain
12	chr8:68226400-68238800	Weak transcription	Spleen	Spleen
13	chr8:68226400-68248800	Weak transcription	Fetal Lung	lung
14	chr8:68226400-68250200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:68226400-68251400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:68226400-68252200	Weak transcription	Placenta	Placenta
17	chr8:68226400-68252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:68226400-68252800	Weak transcription	NHEK	skin
19	chr8:68226400-68254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:68226400-68254600	Weak transcription	Esophagus	oesophagus
21	chr8:68226600-68246800	Weak transcription	Liver	Liver
22	chr8:68226600-68248600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:68226600-68250400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:68226600-68252400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:68226600-68254200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:68226600-68254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:68226600-68254600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:68226800-68248400	Weak transcription	Brain Germinal Matrix	brain
29	chr8:68226800-68251600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:68227000-68252400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:68227000-68253600	Weak transcription	Pancreas	Pancrea
32	chr8:68227000-68254600	Weak transcription	Thymus	Thymus
33	chr8:68227200-68245200	Weak transcription	Fetal Intestine Small	intestine
34	chr8:68227200-68245400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:68227200-68245600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr8:68227200-68246800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:68227200-68248000	Weak transcription	Fetal Stomach	stomach
38	chr8:68227200-68251400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:68227200-68251400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:68227400-68243400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:68227400-68246600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:68227400-68248400	Weak transcription	Dnd41	blood
43	chr8:68227400-68250400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:68227400-68254600	Weak transcription	Lung	lung
45	chr8:68227800-68243400	Weak transcription	Primary B cells from cord blood	blood
46	chr8:68229000-68243400	Weak transcription	Left Ventricle	heart
47	chr8:68229400-68244800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr8:68229600-68248200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:68229600-68248400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr8:68229600-68248600	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links