Variant report

Variant	esv1797364
Chromosome Location	chr8:61658362-61696231
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:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:61674992..61676509-chr8:61685123..61687437,2	MCF-7	breast:
2	chr8:61670218..61671874-chr8:61679473..61681886,2	MCF-7	breast:
3	chr8:61676637..61679256-chr8:61683583..61686325,2	K562	blood:
4	chr8:61676372..61677908-chr8:61681345..61682979,2	MCF-7	breast:
5	chr8:61643627..61644403-chr8:61675024..61675709,2	MCF-7	breast:
6	chr8:61674992..61676509-chr8:61685123..61687437,2	MCF-7	breast:
7	chr8:61669703..61672145-chr8:61675669..61677557,2	MCF-7	breast:
8	chr8:61660270..61663422-chr8:61664798..61667143,3	K562	blood:
9	chr8:61665265..61668192-chr8:61670388..61672627,2	K562	blood:
10	chr8:61678725..61681401-chr8:61683493..61686141,2	MCF-7	breast:
11	chr8:61647965..61650126-chr8:61662487..61664043,2	K562	blood:
12	chr8:61670411..61672225-chr8:61822599..61825591,2	MCF-7	breast:
13	chr8:61676134..61677689-chr8:61677907..61680647,2	MCF-7	breast:
14	chr8:61676637..61679256-chr8:61683583..61686325,2	K562	blood:
15	chr8:61669414..61671448-chr8:61672725..61675279,2	K562	blood:
16	chr8:61565347..61567706-chr8:61683877..61685498,2	K562	blood:
17	chr8:61676372..61677908-chr8:61681345..61682979,2	MCF-7	breast:
18	chr8:61644817..61647237-chr8:61656658..61659132,2	MCF-7	breast:
19	chr8:61676134..61677689-chr8:61677907..61680647,2	MCF-7	breast:
20	chr8:61655145..61656697-chr8:61656892..61658859,2	K562	blood:
21	chr8:61564873..61567065-chr8:61688816..61690706,2	MCF-7	breast:
22	chr1:97409915..97410709-chr8:61676860..61677360,2	K562	blood:
23	chr8:61678725..61681401-chr8:61683493..61686141,2	MCF-7	breast:
24	chr8:61660270..61663422-chr8:61664798..61667143,3	K562	blood:
25	chr8:61684289..61686170-chr8:61692198..61694163,2	K562	blood:
26	chr8:61652864..61655842-chr8:61684937..61687010,2	MCF-7	breast:
27	chr8:61681827..61683875-chr8:61893342..61894850,2	MCF-7	breast:
28	chr8:61687942..61689827-chr8:61698388..61701380,2	K562	blood:
29	chr8:61665265..61668192-chr8:61670388..61672627,2	K562	blood:
30	chr8:61599531..61602030-chr8:61683939..61686653,2	MCF-7	breast:
31	chr8:61590330..61593541-chr8:61678134..61679718,3	MCF-7	breast:
32	chr8:61646629..61649455-chr8:61665377..61667682,2	K562	blood:
33	chr8:61669414..61671448-chr8:61672725..61675279,2	K562	blood:
34	chr8:61684289..61686170-chr8:61692198..61694163,2	K562	blood:
35	chr8:61669703..61672145-chr8:61675669..61677557,2	MCF-7	breast:
36	chr8:61591104..61592610-chr8:61663066..61665396,2	MCF-7	breast:
37	chr8:61626599..61628181-chr8:61670107..61672141,2	MCF-7	breast:
38	chr8:61651342..61653464-chr8:61667353..61670158,2	K562	blood:
39	chr8:61681233..61684163-chr8:61687430..61689381,2	K562	blood:
40	chr8:61681233..61684163-chr8:61687430..61689381,2	K562	blood:
41	chr8:61670218..61671874-chr8:61679473..61681886,2	MCF-7	breast:
42	chr8:61564005..61565776-chr8:61682362..61684915,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254869	chromatin interactions
ENSG00000254777	chromatin interactions
ENSG00000171316	chromatin interactions

Extended variants
information (count: 1337 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1337 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6471898	chr8:61658362-61658363	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77939395	chr8:61658385-61658386	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143232726	chr8:61658418-61658419	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs180957648	chr8:61658430-61658431	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566750255	chr8:61658459-61658460	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533795138	chr8:61658469-61658470	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555491372	chr8:61658478-61658479	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540388167	chr8:61658501-61658502	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184628567	chr8:61658565-61658566	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532276959	chr8:61658592-61658593	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs538309993	chr8:61658628-61658629	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556619858	chr8:61658631-61658632	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs62524952	chr8:61658654-61658655	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs375572722	chr8:61658695-61658696	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545372783	chr8:61658732-61658733	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139348952	chr8:61658733-61658734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150071447	chr8:61658737-61658738	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542853101	chr8:61658747-61658748	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370967871	chr8:61658810-61658811	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189949678	chr8:61658824-61658825	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561102576	chr8:61658827-61658828	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528970758	chr8:61658854-61658855	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144388084	chr8:61658873-61658874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550233370	chr8:61658875-61658876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531334564	chr8:61658885-61658886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181700408	chr8:61658954-61658955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547822712	chr8:61659023-61659024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551355944	chr8:61659058-61659059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376043421	chr8:61659085-61659086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186283524	chr8:61659096-61659097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533646491	chr8:61659100-61659101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534053589	chr8:61659183-61659184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190660135	chr8:61659242-61659243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79855236	chr8:61659250-61659251	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77635776	chr8:61659251-61659252	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553125458	chr8:61659263-61659264	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113677807	chr8:61659279-61659280	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181807883	chr8:61659318-61659319	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538018653	chr8:61659346-61659347	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186487905	chr8:61659391-61659392	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556732160	chr8:61659448-61659449	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578136693	chr8:61659482-61659483	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538703176	chr8:61659536-61659537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558404289	chr8:61659621-61659622	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190672335	chr8:61659638-61659639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567072489	chr8:61659691-61659692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13264014	chr8:61659696-61659697	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182964260	chr8:61659697-61659698	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554764363	chr8:61659724-61659725	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148717489	chr8:61659751-61659752	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Disorders of sex development	21048976	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1361 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61638600-61664200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:61644200-61659200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:61644800-61659400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:61648800-61663800	Weak transcription	HUVEC	blood vessel
5	chr8:61649000-61663800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:61649200-61660800	Weak transcription	Small Intestine	intestine
7	chr8:61651600-61664600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:61652000-61663600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:61653200-61663400	Weak transcription	Fetal Brain Female	brain
10	chr8:61653800-61658600	Strong transcription	Primary B cells from cord blood	blood
11	chr8:61655000-61660200	Weak transcription	K562	blood
12	chr8:61655000-61664800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:61655000-61665400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:61655400-61658400	Enhancers	Brain Hippocampus Middle	brain
15	chr8:61655400-61659400	Weak transcription	NH-A	brain
16	chr8:61655400-61660200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:61655600-61660200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:61655600-61663400	Weak transcription	Dnd41	blood
19	chr8:61655600-61663800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:61655600-61663800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:61655600-61664000	Weak transcription	HSMMtube	muscle
22	chr8:61655600-61664200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:61655600-61664200	Weak transcription	Spleen	Spleen
24	chr8:61655600-61671400	Weak transcription	Hela-S3	cervix
25	chr8:61655800-61660200	Weak transcription	Fetal Thymus	thymus
26	chr8:61655800-61660600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:61655800-61664000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:61655800-61664000	Weak transcription	Fetal Kidney	kidney
29	chr8:61655800-61664400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:61655800-61666200	Weak transcription	Lung	lung
31	chr8:61656000-61658400	Weak transcription	Esophagus	oesophagus
32	chr8:61656000-61660000	Weak transcription	Primary T cells from cord blood	blood
33	chr8:61656000-61663400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr8:61656000-61663600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:61656000-61663800	Weak transcription	GM12878-XiMat	blood
36	chr8:61656000-61664000	Weak transcription	Fetal Stomach	stomach
37	chr8:61656000-61664600	Weak transcription	Fetal Brain Male	brain
38	chr8:61656000-61678000	Weak transcription	Fetal Intestine Small	intestine
39	chr8:61656200-61660200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:61656200-61661000	Weak transcription	Brain Angular Gyrus	brain
41	chr8:61656200-61664200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:61656800-61663200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:61656800-61663800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:61656800-61664200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:61656800-61664800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:61657000-61660200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:61657000-61660200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:61657000-61660200	Weak transcription	Brain Germinal Matrix	brain
49	chr8:61657000-61660200	Weak transcription	Fetal Heart	heart
50	chr8:61657000-61660200	Weak transcription	Psoas Muscle	Psoas

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