Variant report

Variant	nsv890629
Chromosome Location	chr8:19625038-19665351
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:19643063..19645409-chr8:19673165..19675619,2	K562	blood:
2	chr8:19664969..19667659-chr8:19669257..19670993,2	K562	blood:
3	chr8:19660875..19663454-chr8:19664049..19666622,2	K562	blood:
4	chr8:19626579..19627442-chr8:19636746..19637741,3	K562	blood:
5	chr8:19633967..19636111-chr8:19642134..19644107,2	K562	blood:
6	chr8:19626579..19627442-chr8:19636746..19637741,3	K562	blood:
7	chr8:19651891..19655756-chr8:19674001..19676708,3	K562	blood:
8	chr8:19656532..19659284-chr8:19668673..19672507,3	K562	blood:
9	chr8:19623662..19625327-chr8:19672617..19675150,2	K562	blood:
10	chr8:19660875..19663454-chr8:19664049..19666622,2	K562	blood:
11	chr8:19633967..19636111-chr8:19642134..19644107,2	K562	blood:
12	chr8:19664721..19666469-chr8:19669172..19670993,2	K562	blood:
13	chr8:19652489..19655756-chr8:19672094..19675501,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104613	chromatin interactions

Extended variants
information (count: 960 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:960 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17091371	chr8:19625038-19625039	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73667412	chr8:19625044-19625045	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575295342	chr8:19625069-19625070	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535846168	chr8:19625203-19625204	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs7819691	chr8:19625232-19625233	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575808187	chr8:19625244-19625245	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141580381	chr8:19625299-19625300	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189111814	chr8:19625331-19625332	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs557481817	chr8:19625339-19625340	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs578173433	chr8:19625377-19625378	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs540708523	chr8:19625394-19625395	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs560543396	chr8:19625399-19625400	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs149987112	chr8:19625411-19625412	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549065574	chr8:19625448-19625449	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs13282247	chr8:19625464-19625465	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1492637	chr8:19625510-19625511	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs555601121	chr8:19625512-19625513	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs551590249	chr8:19625616-19625617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13280698	chr8:19625619-19625620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs191167291	chr8:19625653-19625654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547114570	chr8:19625683-19625684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374858284	chr8:19625702-19625703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117258836	chr8:19625748-19625749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13248141	chr8:19625762-19625763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs541420279	chr8:19625766-19625767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555841111	chr8:19625771-19625772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559828004	chr8:19625775-19625776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145167339	chr8:19625835-19625836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530314649	chr8:19625839-19625840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530758879	chr8:19625877-19625878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182188341	chr8:19625896-19625897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7836144	chr8:19625912-19625913	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs540793855	chr8:19625941-19625942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554315920	chr8:19625947-19625948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186971744	chr8:19625968-19625969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113660860	chr8:19625990-19625991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10629321	chr8:19626017-19626018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34432826	chr8:19626018-19626019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs118019468	chr8:19626024-19626025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72182468	chr8:19626027-19626028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202187301	chr8:19626036-19626037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs398047124	chr8:19626037-19626038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60669912	chr8:19626038-19626039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139035591	chr8:19626061-19626062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7837390	chr8:19626120-19626121	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs191748603	chr8:19626223-19626224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184924732	chr8:19626263-19626264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564812780	chr8:19626280-19626281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527500633	chr8:19626342-19626343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547151225	chr8:19626350-19626351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	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
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
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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Lung adenocarcinoma	21935476	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19623800-19625400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:19624000-19626000	Enhancers	Brain Substantia Nigra	brain
3	chr8:19624200-19625400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:19624200-19625600	Enhancers	Brain Cingulate Gyrus	brain
5	chr8:19624200-19625800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:19624200-19625800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr8:19624400-19625600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:19624400-19625600	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:19624400-19625800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:19624400-19625800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:19624400-19625800	Enhancers	Brain Anterior Caudate	brain
12	chr8:19624400-19626200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:19624600-19625400	Weak transcription	Pancreas	Pancrea
14	chr8:19624800-19625200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:19624800-19625400	Weak transcription	Placenta	Placenta
16	chr8:19624800-19625600	Flanking Active TSS	K562	blood
17	chr8:19625000-19625800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:19625000-19626200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:19625200-19627600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:19625400-19625600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:19625400-19625600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:19625400-19625600	Enhancers	Placenta	Placenta
23	chr8:19625400-19626200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:19625400-19626200	Enhancers	Pancreas	Pancrea
25	chr8:19625600-19626200	Enhancers	Brain Hippocampus Middle	brain
26	chr8:19625600-19627600	Enhancers	K562	blood
27	chr8:19625800-19627000	Weak transcription	Brain Anterior Caudate	brain
28	chr8:19626000-19627000	Weak transcription	Brain Substantia Nigra	brain
29	chr8:19626200-19627000	Weak transcription	Pancreas	Pancrea
30	chr8:19626200-19627200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:19626600-19627400	Enhancers	Stomach Mucosa	stomach
32	chr8:19627000-19627600	Enhancers	Brain Anterior Caudate	brain
33	chr8:19627000-19627600	Enhancers	Brain Substantia Nigra	brain
34	chr8:19627000-19627600	Enhancers	Pancreas	Pancrea
35	chr8:19627000-19627800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:19627400-19627600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:19627600-19628800	Weak transcription	K562	blood
38	chr8:19627800-19628200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:19628200-19628600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:19628800-19629600	Enhancers	K562	blood
41	chr8:19636800-19637200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:19636800-19637400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr8:19637000-19637200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr8:19637000-19637200	Enhancers	Brain Substantia Nigra	brain
45	chr8:19637000-19637400	Enhancers	Brain Hippocampus Middle	brain
46	chr8:19637200-19637400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr8:19643000-19643800	Enhancers	Fetal Lung	lung
48	chr8:19643000-19644000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:19643000-19644000	Enhancers	K562	blood
50	chr8:19643000-19644400	Enhancers	Monocytes-CD14+_RO01746	blood

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