Variant report

Variant	nsv6179
Chromosome Location	chr8:48795179-48817295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:468)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr8:48814851-48815342	GM12878	blood:	n/a	n/a
2	ATF2	chr8:48814692-48815306	GM12878	blood:	n/a	n/a
3	ATF2	chr8:48812173-48812889	GM12878	blood:	n/a	n/a
4	ATF2	chr8:48812278-48812924	GM12878	blood:	n/a	n/a
5	BATF	chr8:48814874-48815214	GM12878	blood:	n/a	n/a
6	BATF	chr8:48814867-48815243	GM12878	blood:	n/a	n/a
7	BATF	chr8:48812422-48812881	GM12878	blood:	n/a	n/a
8	BATF	chr8:48812407-48812807	GM12878	blood:	n/a	n/a
9	BCL11A	chr8:48812389-48812787	GM12878	blood:	n/a	n/a
10	BCL11A	chr8:48812477-48812789	GM12878	blood:	n/a	n/a
11	BCL11A	chr8:48814918-48815256	GM12878	blood:	n/a	n/a
12	BCL11A	chr8:48814860-48815214	GM12878	blood:	n/a	n/a
13	BCL3	chr8:48794872-48795246	GM12878	blood:	n/a	n/a
14	BCL3	chr8:48812377-48812751	GM12878	blood:	n/a	n/a
15	BCLAF1	chr8:48812317-48812900	GM12878	blood:	n/a	n/a
16	BCLAF1	chr8:48812164-48812845	GM12878	blood:	n/a	n/a
17	BHLHE40	chr8:48814073-48814413	GM12878	blood:	n/a	n/a
18	BHLHE40	chr8:48812193-48812959	GM12878	blood:	n/a	n/a
19	BHLHE40	chr8:48814879-48815352	GM12878	blood:	n/a	n/a
20	CEBPB	chr8:48816922-48817209	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr8:48816868-48817258	ECC-1	luminal epithelium:	n/a	n/a
22	CEBPB	chr8:48817008-48817189	IMR90	lung:	n/a	n/a
23	CHD2	chr8:48814070-48814330	GM12878	blood:	n/a	n/a
24	CHD2	chr8:48812379-48812970	GM12878	blood:	n/a	n/a
25	CREB1	chr8:48812334-48812909	GM12878	blood:	n/a	n/a
26	CREB1	chr8:48812217-48813039	GM12878	blood:	n/a	n/a
27	CTCF	chr8:48805610-48805642	MCF-7	breast:	n/a	n/a
28	CTCF	chr8:48816040-48816190	BE2_C	brain:	n/a	n/a
29	CTCF	chr8:48816080-48816230	HL-60	blood:	n/a	n/a
30	CTCF	chr8:48816040-48816190	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr8:48796300-48796450	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr8:48816080-48816230	K562	blood:	n/a	n/a
33	CTCF	chr8:48815900-48816050	GM06990	blood:	n/a	n/a
34	CTCF	chr8:48816076-48816200	MCF-7	breast:	n/a	n/a
35	CTCF	chr8:48812580-48812730	GM12878	blood:	n/a	chr8:48812716-48812725
36	CTCF	chr8:48816040-48816190	GM12868	blood:	n/a	n/a
37	CTCF	chr8:48812680-48812830	GM12869	blood:	n/a	chr8:48812716-48812725
38	CTCF	chr8:48816060-48816210	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr8:48796354-48796434	GM19240	blood:	n/a	n/a
40	CTCF	chr8:48816060-48816210	HEK293	kidney:	n/a	n/a
41	CTCF	chr8:48796300-48796450	GM12870	blood:	n/a	n/a
42	CTCF	chr8:48800740-48800890	HRE	kidney:	n/a	n/a
43	CTCF	chr8:48816067-48816239	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr8:48815980-48816130	GM12871	blood:	n/a	n/a
45	CTCF	chr8:48796141-48796536	MCF-7	breast:	n/a	n/a
46	CTCF	chr8:48816060-48816210	HPF	lung:	n/a	n/a
47	CTCF	chr8:48796344-48796462	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr8:48796279-48796544	MCF-7	breast:	n/a	n/a
49	CTCF	chr8:48816080-48816230	HMF	breast:	n/a	n/a
50	CTCF	chr8:48816087-48816199	MCF-7	breast:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:48802563..48804603-chr8:48806502..48808271,2	K562	blood:
2	chr8:48799441..48801873-chr8:48806998..48809759,3	K562	blood:
3	chr8:48799441..48801873-chr8:48806998..48809759,3	K562	blood:
4	chr8:48809750..48812575-chr8:48815045..48817553,2	K562	blood:
5	chr8:48809750..48812575-chr8:48815045..48817553,2	K562	blood:
6	chr8:48798660..48800661-chr8:48801685..48803996,3	K562	blood:
7	chr8:48800550..48803692-chr8:48813712..48817652,3	K562	blood:
8	chr8:48795937..48796818-chr8:49837936..49838689,2	MCF-7	breast:
9	chr8:48799441..48801272-chr8:48808121..48809759,2	K562	blood:
10	chr8:48799441..48801272-chr8:48808121..48809759,2	K562	blood:
11	chr8:48783935..48786261-chr8:48795994..48797522,2	K562	blood:
12	chr8:48775024..48776712-chr8:48799790..48801696,2	MCF-7	breast:
13	chr8:48803324..48804836-chr8:48807142..48809364,2	K562	blood:
14	chr8:48800554..48803077-chr8:48803975..48806027,3	K562	blood:
15	chr8:48803324..48804836-chr8:48807142..48809364,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000211562	TF binding region
ENSG00000211562	chromatin interactions

Extended variants
information (count: 900 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:900 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62542260	chr8:48795192-48795193	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141034618	chr8:48795198-48795199	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs543648788	chr8:48795236-48795237	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563314107	chr8:48795262-48795263	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571022006	chr8:48795270-48795271	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538013959	chr8:48795274-48795275	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550363968	chr8:48795327-48795328	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568830733	chr8:48795366-48795367	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74527265	chr8:48795426-48795427	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144996892	chr8:48795432-48795433	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549222917	chr8:48795473-48795474	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572913941	chr8:48795480-48795481	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187297472	chr8:48795571-48795572	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566831908	chr8:48795585-48795586	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147556020	chr8:48795586-48795587	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140742802	chr8:48795592-48795593	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191830779	chr8:48795636-48795637	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6473874	chr8:48795665-48795666	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183953453	chr8:48795670-48795671	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541955310	chr8:48795675-48795676	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560106922	chr8:48795731-48795732	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372272191	chr8:48795745-48795746	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552157329	chr8:48795778-48795779	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150112252	chr8:48795825-48795826	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189362621	chr8:48795835-48795836	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550083325	chr8:48795839-48795840	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568671809	chr8:48795850-48795851	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565807097	chr8:48795879-48795880	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180699015	chr8:48795887-48795888	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548350361	chr8:48795956-48795957	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375106967	chr8:48795993-48795994	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566572790	chr8:48796030-48796031	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528472096	chr8:48796051-48796052	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143657471	chr8:48796077-48796078	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534078727	chr8:48796079-48796080	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551323900	chr8:48796085-48796086	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185601985	chr8:48796172-48796173	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577037360	chr8:48796181-48796182	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538171658	chr8:48796199-48796200	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190504899	chr8:48796224-48796225	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181676437	chr8:48796233-48796234	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541918344	chr8:48796282-48796283	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560168136	chr8:48796389-48796390	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145539145	chr8:48796393-48796394	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186193243	chr8:48796431-48796432	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372789003	chr8:48796467-48796468	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537343770	chr8:48796488-48796489	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531895221	chr8:48796489-48796490	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34330167	chr8:48796494-48796495	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550489003	chr8:48796529-48796530	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
22q11 deletion syndrome	20357662	CNVD
Autism	20531469	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48684400-48861600	Strong transcription	Dnd41	blood
2	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
3	chr8:48722600-48798800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:48738400-48818800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:48739600-48799400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:48739600-48822200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:48739600-48870600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:48739800-48870400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:48751400-48805800	Strong transcription	Fetal Lung	lung
12	chr8:48758200-48799600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:48759800-48808400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr8:48775200-48796000	Weak transcription	Small Intestine	intestine
15	chr8:48775400-48800200	Weak transcription	Stomach Mucosa	stomach
16	chr8:48776800-48797200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:48778600-48838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:48778800-48795800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:48778800-48808200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:48778800-48818200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr8:48778800-48818800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr8:48779400-48808200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr8:48779400-48815800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:48779800-48822200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:48780000-48822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:48782800-48832200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:48783800-48816200	Strong transcription	Liver	Liver
28	chr8:48784000-48816400	Strong transcription	Fetal Muscle Leg	muscle
29	chr8:48784000-48818600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:48784800-48817400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:48785200-48799000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:48785200-48859000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr8:48785400-48796600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:48785400-48799000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:48785400-48799800	Strong transcription	Rectal Smooth Muscle	rectum
36	chr8:48785400-48800000	Strong transcription	Adipose Nuclei	Adipose
37	chr8:48785400-48805800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr8:48785400-48807000	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:48785400-48808400	Strong transcription	A549	lung
40	chr8:48785400-48817800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr8:48785400-48819600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr8:48785400-48826800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:48785400-48833000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:48785600-48813200	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr8:48785600-48819200	Strong transcription	Placenta	Placenta
46	chr8:48785600-48819400	Strong transcription	Osteobl	bone
47	chr8:48785800-48808000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:48785800-48808200	Strong transcription	Hela-S3	cervix
49	chr8:48785800-48822200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr8:48785800-48832000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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