Variant report

Variant	nsv524818
Chromosome Location	chr8:38912806-38919407
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	chr8:38915849..38919016-chr8:38921261..38923485,4	K562	blood:

Extended variants
information (count: 201 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6990299	chr8:38912806-38912807	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372474631	chr8:38912812-38912813	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565566466	chr8:38912842-38912843	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183463749	chr8:38912850-38912851	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186658329	chr8:38912860-38912861	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540613708	chr8:38912923-38912924	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559913392	chr8:38912955-38912956	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528948643	chr8:38912967-38912968	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149240112	chr8:38912993-38912994	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568665158	chr8:38913022-38913023	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373537526	chr8:38913098-38913099	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201256112	chr8:38913133-38913134	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202132858	chr8:38913160-38913161	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35770212	chr8:38913173-38913174	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140137562	chr8:38913201-38913202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551203480	chr8:38913220-38913221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560445503	chr8:38913232-38913233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527956288	chr8:38913248-38913249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377313321	chr8:38913254-38913255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376796967	chr8:38913269-38913270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368195612	chr8:38913306-38913307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192657345	chr8:38913324-38913325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570921541	chr8:38913326-38913327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374207553	chr8:38913331-38913332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377501978	chr8:38913332-38913333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533873253	chr8:38913351-38913352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554110839	chr8:38913354-38913355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567570159	chr8:38913367-38913368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536706875	chr8:38913388-38913389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531842162	chr8:38913403-38913404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556689329	chr8:38913459-38913460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368987333	chr8:38913476-38913477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539217477	chr8:38913488-38913489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549761045	chr8:38913505-38913506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572670432	chr8:38913552-38913553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541374975	chr8:38913556-38913557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560053735	chr8:38913594-38913595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550054509	chr8:38913630-38913631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573559455	chr8:38913667-38913668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568558477	chr8:38913680-38913681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542262751	chr8:38913692-38913693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562235865	chr8:38913728-38913729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531340331	chr8:38913890-38913891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201747760	chr8:38913900-38913901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144520826	chr8:38913924-38913925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73602745	chr8:38914063-38914064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527548401	chr8:38914065-38914066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554187349	chr8:38914066-38914067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73602747	chr8:38914074-38914075	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs28434452	chr8:38914176-38914177	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:104)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	21979893	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	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
Acute lymphoblastic leukemia	21248843	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Breast cancer	16620391	CNVD
Adrenocortical carcinoma	18281524	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Lung cancer	21569311	CNVD
Breast cancer	21364760	CNVD
Prader-willi syndrome	20588305	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38882000-38913600	Weak transcription	Fetal Kidney	kidney
2	chr8:38883000-38913000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:38890200-38914400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:38890400-38919800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:38896000-38918400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:38896000-38925000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:38896200-38916000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:38896400-38916400	Weak transcription	K562	blood
9	chr8:38897400-38963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:38897600-38918600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:38899800-38916600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:38900600-38918400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:38900600-38925600	Weak transcription	Small Intestine	intestine
14	chr8:38902400-38916400	Weak transcription	Right Ventricle	heart
15	chr8:38902400-38920000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:38902400-38947600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:38903000-38921400	Weak transcription	Fetal Heart	heart
18	chr8:38904600-38913200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:38904600-38915200	Weak transcription	Lung	lung
20	chr8:38905000-38913800	Weak transcription	Fetal Brain Male	brain
21	chr8:38905000-38960000	Weak transcription	HSMMtube	muscle
22	chr8:38906000-38922600	Strong transcription	HSMM	muscle
23	chr8:38906800-38915000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:38906800-38921400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:38907600-38916600	Strong transcription	NH-A	brain
26	chr8:38908200-38918400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:38908400-38915000	Strong transcription	HUVEC	blood vessel
28	chr8:38908800-38915000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:38908800-38916200	Weak transcription	Fetal Brain Female	brain
30	chr8:38909000-38922800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:38909200-38913800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:38910200-38915800	Strong transcription	HepG2	liver
33	chr8:38910200-38922800	Strong transcription	A549	lung
34	chr8:38910600-38916600	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr8:38910800-38920800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:38911000-38923600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:38911200-38916400	Strong transcription	NHLF	lung
38	chr8:38911200-38918600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:38911200-38918800	Strong transcription	NHEK	skin
40	chr8:38911200-38921000	Strong transcription	Placenta	Placenta
41	chr8:38911200-38921200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:38911200-38922600	Strong transcription	Dnd41	blood
43	chr8:38911200-38923400	Strong transcription	Osteobl	bone
44	chr8:38911400-38913000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:38911400-38914800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:38911400-38916600	Weak transcription	Brain Germinal Matrix	brain
47	chr8:38911400-38917200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:38911400-38917800	Strong transcription	HMEC	breast
49	chr8:38911400-38922000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:38911400-38923600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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