Variant report

Variant	esv13359
Chromosome Location	chr8:96049101-96054739
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96041538..96045239-chr8:96047596..96052623,5	K562	blood:
2	chr8:95729243..95731329-chr8:96054222..96055835,2	MCF-7	breast:
3	chr8:96047634..96049514-chr8:96051368..96053300,2	MCF-7	breast:
4	chr8:96049863..96052563-chr8:96097765..96099435,2	MCF-7	breast:
5	chr8:96050393..96052633-chr8:96061635..96064510,2	K562	blood:
6	chr8:96050706..96053317-chr8:96055856..96057738,2	K562	blood:
7	chr8:96048589..96050273-chr8:96050765..96052626,2	MCF-7	breast:
8	chr8:96047784..96050061-chr8:96056115..96059105,2	K562	blood:
9	chr8:96035327..96037594-chr8:96047662..96049951,2	K562	blood:
10	chr8:96048589..96050273-chr8:96050765..96052626,2	MCF-7	breast:
11	chr8:96054167..96054667-chr8:109220123..109220706,2	MCF-7	breast:
12	chr8:96047634..96049514-chr8:96051368..96053300,2	MCF-7	breast:
13	chr8:96042773..96045129-chr8:96053091..96055278,3	K562	blood:
14	chr8:96044407..96045968-chr8:96052292..96053979,2	MCF-7	breast:
15	chr8:95960278..95962976-chr8:96049921..96052095,2	MCF-7	breast:
16	chr8:96040756..96042437-chr8:96054140..96055940,2	MCF-7	breast:
17	chr8:96047716..96050435-chr8:96257562..96260562,3	MCF-7	breast:
18	chr8:96047883..96051968-chr8:96052187..96054667,4	K562	blood:
19	chr8:96053111..96056097-chr8:96061243..96063716,2	MCF-7	breast:
20	chr8:96053751..96055712-chr8:96064518..96066585,2	K562	blood:
21	chr8:96047883..96051968-chr8:96052187..96054667,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000156170	chromatin interactions
ENSG00000253878	chromatin interactions
ENSG00000164938	chromatin interactions

Extended variants
information (count: 199 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:199 , 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	rs531457087	chr8:96049113-96049114	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs150521624	chr8:96049120-96049121	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs111388351	chr8:96049176-96049177	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527256314	chr8:96049203-96049204	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116467873	chr8:96049234-96049235	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs73276462	chr8:96049242-96049243	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2678827	chr8:96049339-96049340	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577849646	chr8:96049515-96049516	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569725558	chr8:96049548-96049549	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187740737	chr8:96049557-96049558	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144155079	chr8:96049597-96049598	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs147804292	chr8:96049660-96049661	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192253933	chr8:96049681-96049682	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1031388	chr8:96049684-96049685	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs546682342	chr8:96049773-96049774	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs183589288	chr8:96049778-96049779	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148742435	chr8:96049785-96049786	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139527480	chr8:96049800-96049801	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559941828	chr8:96049825-96049826	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560326072	chr8:96049880-96049881	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs7824488	chr8:96049884-96049885	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577497983	chr8:96049916-96049917	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545152947	chr8:96049984-96049985	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs7823562	chr8:96050002-96050003	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs529400708	chr8:96050023-96050024	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs370938366	chr8:96050024-96050025	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs59511473	chr8:96050056-96050057	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs527325010	chr8:96050124-96050125	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs188081923	chr8:96050260-96050261	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs560676615	chr8:96050261-96050262	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs530027299	chr8:96050265-96050266	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs549774725	chr8:96050285-96050286	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs114885678	chr8:96050286-96050287	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs116530406	chr8:96050287-96050288	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs552290512	chr8:96050377-96050378	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs192856594	chr8:96050389-96050390	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs59279108	chr8:96050395-96050396	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552672300	chr8:96050402-96050403	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs75082499	chr8:96050408-96050409	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs374129542	chr8:96050446-96050447	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs144213779	chr8:96050473-96050474	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs568328007	chr8:96050500-96050501	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs537782289	chr8:96050526-96050527	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs10111383	chr8:96050539-96050540	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577559293	chr8:96050549-96050550	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs546411083	chr8:96050556-96050557	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs7812465	chr8:96050557-96050558	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs79218562	chr8:96050578-96050579	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs540741854	chr8:96050589-96050590	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs201918190	chr8:96050616-96050617	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96037800-96070200	Weak transcription	Aorta	Aorta
2	chr8:96038000-96063800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:96038200-96050200	Weak transcription	Spleen	Spleen
4	chr8:96038200-96054400	Weak transcription	Fetal Kidney	kidney
5	chr8:96038200-96058800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:96038200-96059200	Weak transcription	Right Ventricle	heart
7	chr8:96038200-96061000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:96038200-96061200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:96038200-96061200	Weak transcription	Psoas Muscle	Psoas
10	chr8:96038200-96072400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:96038200-96080000	Weak transcription	Colonic Mucosa	Colon
12	chr8:96038400-96054000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:96038400-96054000	Weak transcription	HUVEC	blood vessel
14	chr8:96038400-96054200	Weak transcription	Fetal Heart	heart
15	chr8:96038400-96054200	Weak transcription	NH-A	brain
16	chr8:96038400-96054200	Weak transcription	NHDF-Ad	bronchial
17	chr8:96038400-96054400	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:96038400-96055000	Weak transcription	HSMMtube	muscle
19	chr8:96038400-96060600	Weak transcription	NHLF	lung
20	chr8:96038400-96061000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:96038400-96063600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:96038400-96066800	Weak transcription	Stomach Mucosa	stomach
23	chr8:96038400-96085200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:96038600-96054400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:96038600-96054400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:96038600-96059200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:96038600-96059800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:96038600-96061000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:96038600-96061200	Weak transcription	Small Intestine	intestine
30	chr8:96038800-96053000	Weak transcription	HMEC	breast
31	chr8:96038800-96058800	Weak transcription	Fetal Brain Male	brain
32	chr8:96039200-96050200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:96039200-96055200	Weak transcription	Esophagus	oesophagus
34	chr8:96039200-96061000	Weak transcription	Pancreas	Pancrea
35	chr8:96041600-96054400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:96042400-96051200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr8:96042800-96072200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr8:96043600-96063600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr8:96044200-96049600	Strong transcription	Liver	Liver
40	chr8:96044200-96050400	Strong transcription	Fetal Intestine Large	intestine
41	chr8:96044200-96059800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr8:96044200-96060600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr8:96044200-96062600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:96044200-96071800	Strong transcription	Dnd41	blood
45	chr8:96044400-96049600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:96044400-96050200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:96044400-96054800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:96044400-96063200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr8:96044400-96066600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:96044400-96066800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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