Variant report

Variant	nsv398351
Chromosome Location	chr8:66533044-66535247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:66532234..66535981-chr8:66546059..66548222,3	K562	blood:
2	chr8:66532015..66534641-chr8:66544664..66547461,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104442	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576873817	chr8:66533184-66533185	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543638971	chr8:66533238-66533239	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188011498	chr8:66533239-66533240	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532470790	chr8:66533251-66533252	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191361906	chr8:66533281-66533282	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs7832407	chr8:66533306-66533307	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs184615309	chr8:66533319-66533320	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567317400	chr8:66533320-66533321	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527875444	chr8:66533344-66533345	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536361932	chr8:66533381-66533382	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541032259	chr8:66533498-66533499	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569953973	chr8:66533540-66533541	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537280925	chr8:66533560-66533561	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558442182	chr8:66533583-66533584	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7006732	chr8:66533626-66533627	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs10089029	chr8:66533660-66533661	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552554227	chr8:66533718-66533719	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112802266	chr8:66533732-66533733	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574143591	chr8:66533778-66533779	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541416588	chr8:66533781-66533782	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs151172412	chr8:66533796-66533797	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7007473	chr8:66533797-66533798	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs544015641	chr8:66533854-66533855	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs559283685	chr8:66533869-66533870	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs565300602	chr8:66533902-66533903	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577274761	chr8:66533905-66533906	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112963826	chr8:66533915-66533916	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543730114	chr8:66533916-66533917	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73236986	chr8:66533918-66533919	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530155268	chr8:66533946-66533947	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7007505	chr8:66533954-66533955	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs149883670	chr8:66533985-66533986	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530683373	chr8:66533987-66533988	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552360827	chr8:66534014-66534015	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs117950402	chr8:66534055-66534056	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190763625	chr8:66534112-66534113	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs78304459	chr8:66534212-66534213	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs181688253	chr8:66534214-66534215	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535108349	chr8:66534236-66534237	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs556509830	chr8:66534241-66534242	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576688772	chr8:66534264-66534265	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537304342	chr8:66534287-66534288	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559108358	chr8:66534363-66534364	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577408732	chr8:66534405-66534406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368810365	chr8:66534466-66534467	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544136024	chr8:66534487-66534488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs74833682	chr8:66534502-66534503	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs375534924	chr8:66534525-66534526	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201309127	chr8:66534618-66534619	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs73690886	chr8:66534642-66534643	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
Adenoid cystic carcinoma	18332873	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66504000-66545200	Weak transcription	Fetal Brain Male	brain
2	chr8:66506800-66545200	Weak transcription	Stomach Mucosa	stomach
3	chr8:66507800-66538000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:66508000-66545200	Weak transcription	Fetal Heart	heart
5	chr8:66514600-66539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:66517000-66533200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:66517000-66538400	Weak transcription	Small Intestine	intestine
8	chr8:66517200-66533800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:66517200-66539000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:66518000-66545600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:66519600-66545200	Weak transcription	Right Atrium	heart
12	chr8:66520000-66545000	Weak transcription	NHEK	skin
13	chr8:66520400-66539600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:66521600-66533200	Weak transcription	HMEC	breast
15	chr8:66522200-66535200	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:66522600-66545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:66524800-66538400	Weak transcription	Psoas Muscle	Psoas
18	chr8:66525600-66533800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:66525600-66533800	Weak transcription	Pancreas	Pancrea
20	chr8:66525600-66545200	Weak transcription	Fetal Kidney	kidney
21	chr8:66526000-66533200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:66526000-66537000	Weak transcription	Gastric	stomach
23	chr8:66526000-66539000	Weak transcription	NHLF	lung
24	chr8:66527400-66533200	Weak transcription	HSMM	muscle
25	chr8:66527600-66535200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:66527600-66535600	Strong transcription	Lung	lung
27	chr8:66527600-66537400	Weak transcription	NHDF-Ad	bronchial
28	chr8:66527600-66539600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:66528000-66535200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:66529200-66535000	Strong transcription	Thymus	Thymus
31	chr8:66529200-66541800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:66529600-66534800	Strong transcription	Brain Germinal Matrix	brain
33	chr8:66529600-66535000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr8:66529600-66537600	Strong transcription	Fetal Stomach	stomach
35	chr8:66529600-66539600	Strong transcription	Fetal Intestine Large	intestine
36	chr8:66529600-66539800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:66529600-66540200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:66529600-66540400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:66529600-66541800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:66529800-66535000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:66529800-66535000	Strong transcription	Primary T cells from cord blood	blood
42	chr8:66529800-66535000	Strong transcription	Fetal Brain Female	brain
43	chr8:66529800-66535000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr8:66529800-66535200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:66529800-66535200	Strong transcription	Liver	Liver
46	chr8:66529800-66535200	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:66529800-66535400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:66529800-66535400	Strong transcription	Placenta	Placenta
49	chr8:66529800-66539600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:66529800-66539600	Strong transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links