Variant report

Variant	nsv981947
Chromosome Location	chr8:64123105-64125504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FAM48A	chr8:64124470-64124537	GM12878	blood:	n/a	n/a
2	GATA3	chr8:64122985-64123342	T-47D	breast:	n/a	n/a
3	POLR2A	chr8:64125498-64125943	GM12892	blood:	n/a	n/a
4	POLR2A	chr8:64123460-64124693	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:64123908-64124072	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr8:64122869-64133933	K562	blood:	n/a	n/a
7	POLR2A	chr8:64125465-64126194	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr8:64124953-64127754	HepG2	liver:	n/a	n/a
9	SIN3A	chr8:64124001-64124039	H1-hESC	embryonic stem cell:	n/a	n/a
10	STAT3	chr8:64124331-64124534	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:64081105..64082612-chr8:64123501..64126301,2	K562	blood:

Variant related genes	Relation type
ENSG00000261542	TF binding region
ENSG00000185728	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534322340	chr8:64123165-64123166	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555863195	chr8:64123169-64123170	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187682591	chr8:64123218-64123219	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538436814	chr8:64123340-64123341	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561761571	chr8:64123349-64123350	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556936616	chr8:64123375-64123376	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377301238	chr8:64123476-64123477	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73256849	chr8:64123627-64123628	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs377525117	chr8:64123628-64123629	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs527650292	chr8:64123662-64123663	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11556259	chr8:64123684-64123685	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs544704997	chr8:64123695-64123696	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553749650	chr8:64123729-64123730	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs72659900	chr8:64123853-64123854	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542320288	chr8:64123974-64123975	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560605698	chr8:64124015-64124016	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs564231764	chr8:64124053-64124054	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs77217544	chr8:64124058-64124059	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs185127909	chr8:64124084-64124085	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs77594100	chr8:64124094-64124095	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs532414619	chr8:64124097-64124098	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs547346997	chr8:64124116-64124117	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs560550722	chr8:64124146-64124147	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs549322580	chr8:64124237-64124238	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs549713043	chr8:64124244-64124245	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs143258120	chr8:64124245-64124246	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs549545650	chr8:64124276-64124277	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs567752564	chr8:64124286-64124287	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs578217978	chr8:64124300-64124301	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs569793844	chr8:64124349-64124350	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs566780343	chr8:64124417-64124418	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs116982627	chr8:64124429-64124430	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs571718552	chr8:64124466-64124467	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs370682068	chr8:64124508-64124509	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs539332660	chr8:64124516-64124517	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs554126475	chr8:64124538-64124539	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs148892084	chr8:64124585-64124586	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs190466520	chr8:64124607-64124608	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs7464	chr8:64124956-64124957	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554286498	chr8:64124965-64124966	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs71671324	chr8:64124995-64124996	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs371487403	chr8:64125018-64125019	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs575718163	chr8:64125060-64125061	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs182288658	chr8:64125061-64125062	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534587370	chr8:64125138-64125139	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs576928206	chr8:64125145-64125146	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs148059219	chr8:64125157-64125158	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559383979	chr8:64125158-64125159	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs184477248	chr8:64125169-64125170	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs188106102	chr8:64125181-64125182	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64100600-64127000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:64101600-64128000	Weak transcription	Colonic Mucosa	Colon
3	chr8:64101600-64136000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:64103400-64127400	Weak transcription	Thymus	Thymus
5	chr8:64103600-64129800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:64104400-64124800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:64107000-64127200	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:64107000-64132000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:64108600-64132000	Weak transcription	Lung	lung
10	chr8:64108600-64134000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:64109000-64132000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:64113200-64125800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:64113200-64132600	Weak transcription	Aorta	Aorta
14	chr8:64113600-64132600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:64113800-64127200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:64113800-64131800	Weak transcription	Hela-S3	cervix
17	chr8:64114000-64130800	Weak transcription	NHEK	skin
18	chr8:64114600-64129200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:64114600-64131400	Weak transcription	HSMMtube	muscle
20	chr8:64115000-64129000	Weak transcription	Fetal Heart	heart
21	chr8:64117800-64131800	Weak transcription	NHLF	lung
22	chr8:64117800-64133200	Weak transcription	Fetal Stomach	stomach
23	chr8:64118000-64125200	Weak transcription	Stomach Mucosa	stomach
24	chr8:64118200-64126000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:64118400-64132600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:64118400-64133000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:64118800-64132000	Weak transcription	Small Intestine	intestine
28	chr8:64119000-64125200	Weak transcription	Fetal Brain Male	brain
29	chr8:64119000-64125800	Weak transcription	Fetal Intestine Small	intestine
30	chr8:64119000-64132000	Weak transcription	Ovary	ovary
31	chr8:64119000-64132000	Weak transcription	Pancreas	Pancrea
32	chr8:64119000-64132000	Weak transcription	Right Atrium	heart
33	chr8:64119000-64132000	Weak transcription	Spleen	Spleen
34	chr8:64119200-64132600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:64119600-64124600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:64119600-64132800	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:64119600-64138800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr8:64119800-64129200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:64120000-64126600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:64120400-64132000	Weak transcription	Adipose Nuclei	Adipose
41	chr8:64120600-64126400	Strong transcription	Dnd41	blood
42	chr8:64120600-64129600	Weak transcription	Brain Anterior Caudate	brain
43	chr8:64120600-64130200	Strong transcription	HSMM	muscle
44	chr8:64120800-64124600	Strong transcription	Primary B cells from cord blood	blood
45	chr8:64120800-64124800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:64120800-64127800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:64121000-64123200	Strong transcription	Primary T cells from cord blood	blood
48	chr8:64121000-64127800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:64121200-64124400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:64121200-64129200	Weak transcription	Brain Hippocampus Middle	brain

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