Variant report

Variant	esv2762759
Chromosome Location	chr8:90738200-90739480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:313)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:90738074-90738343	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:90738052-90738327	K562	blood:	n/a	n/a
3	ATF1	chr8:90738051-90738334	K562	blood:	n/a	n/a
4	ATF2	chr8:90737929-90738551	GM12878	blood:	n/a	n/a
5	ATF2	chr8:90737920-90738636	GM12878	blood:	n/a	n/a
6	ATF2	chr8:90738026-90738427	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr8:90738733-90738759	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr8:90738096-90738310	K562	blood:	n/a	n/a
9	BATF	chr8:90738003-90738500	GM12878	blood:	n/a	chr8:90738291-90738302 chr8:90738292-90738302
10	BATF	chr8:90738011-90738449	GM12878	blood:	n/a	chr8:90738291-90738302 chr8:90738292-90738302
11	BCL3	chr8:90737989-90738504	GM12878	blood:	n/a	chr8:90738122-90738131
12	BCLAF1	chr8:90737957-90738469	GM12878	blood:	n/a	chr8:90738122-90738131
13	BCLAF1	chr8:90737861-90738551	GM12878	blood:	n/a	chr8:90738122-90738131 chr8:90737903-90737912
14	BHLHE40	chr8:90738026-90738384	K562	blood:	n/a	n/a
15	BHLHE40	chr8:90738028-90738733	GM12878	blood:	n/a	n/a
16	CBX3	chr8:90737999-90738365	K562	blood:	n/a	n/a
17	CEBPB	chr8:90737876-90738616	GM12878	blood:	n/a	n/a
18	CEBPB	chr8:90738187-90738565	IMR90	lung:	n/a	n/a
19	CHD2	chr8:90738073-90738329	K562	blood:	n/a	n/a
20	CHD2	chr8:90737963-90738782	GM12878	blood:	n/a	n/a
21	CREB1	chr8:90737867-90738662	GM12878	blood:	n/a	n/a
22	CREB1	chr8:90738033-90738488	GM12878	blood:	n/a	n/a
23	CTCF	chr8:90738120-90738270	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr8:90738114-90738273	NHEK	skin:	n/a	n/a
25	CTCF	chr8:90737979-90738401	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr8:90738140-90738290	BJ	skin:	n/a	n/a
27	CTCF	chr8:90738094-90738240	GM12892	blood:	n/a	n/a
28	CTCF	chr8:90737930-90738479	MCF-7	breast:	n/a	n/a
29	CTCF	chr8:90738120-90738270	GM12875	blood:	n/a	n/a
30	CTCF	chr8:90738080-90738230	GM12867	blood:	n/a	n/a
31	CTCF	chr8:90738080-90738230	NHEK	skin:	n/a	n/a
32	CTCF	chr8:90738140-90738290	GM12872	blood:	n/a	n/a
33	CTCF	chr8:90738140-90738290	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr8:90738094-90738282	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr8:90738057-90738325	Lung_OC	lung:	n/a	n/a
36	CTCF	chr8:90738102-90738244	GM19239	blood:	n/a	n/a
37	CTCF	chr8:90738160-90738310	AG09309	skin:	n/a	n/a
38	CTCF	chr8:90738100-90738250	GM06990	blood:	n/a	n/a
39	CTCF	chr8:90738120-90738270	GM12864	blood:	n/a	n/a
40	CTCF	chr8:90738120-90738270	RPTEC	kidney:	n/a	n/a
41	CTCF	chr8:90738103-90738289	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr8:90738124-90738294	HepG2	liver:	n/a	n/a
43	CTCF	chr8:90738100-90738250	GM12868	blood:	n/a	n/a
44	CTCF	chr8:90738200-90738350	A549	lung:	n/a	n/a
45	CTCF	chr8:90738095-90738320	A549	lung:	n/a	n/a
46	CTCF	chr8:90738120-90738270	HCT-116	colon:	n/a	n/a
47	CTCF	chr8:90738100-90738250	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr8:90738120-90738270	GM12878	blood:	n/a	n/a
49	CTCF	chr8:90737991-90738377	A549	lung:	n/a	n/a
50	CTCF	chr8:90737975-90738460	A549	lung:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90714137..90717056-chr8:90737564..90740115,2	K562	blood:
2	chr8:90737113..90738638-chr8:90994961..90997124,2	K562	blood:
3	chr8:90735826..90740064-chr8:90995306..90998250,3	MCF-7	breast:
4	chr8:90737820..90738670-chr8:90996630..90997353,4	K562	blood:
5	chr8:90738830..90741040-chr8:90913929..90916655,2	K562	blood:
6	chr8:90737773..90739680-chr8:90867503..90870182,2	MCF-7	breast:
7	chr8:90737440..90740963-chr8:90912985..90916304,5	MCF-7	breast:
8	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
9	chr8:90732925..90737686-chr8:90738407..90742912,6	K562	blood:
10	chr8:90735002..90740593-chr8:90994599..90998168,11	MCF-7	breast:
11	chr8:90737934..90739593-chr8:90739830..90742161,2	K562	blood:
12	chr8:90732834..90736227-chr8:90736670..90741646,5	MCF-7	breast:
13	chr8:90737819..90738602-chr8:90996411..90997232,4	MCF-7	breast:
14	chr8:90738336..90739847-chr8:90952483..90954708,2	MCF-7	breast:
15	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
16	chr8:90737750..90738653-chr8:90995891..90997375,11	MCF-7	breast:
17	chr8:90737986..90738708-chr8:90849422..90850036,2	MCF-7	breast:
18	chr8:90738912..90741485-chr8:91017416..91019883,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251136	TF binding region
ENSG00000164823	chromatin interactions
ENSG00000104320	chromatin interactions
ENSG00000207359	chromatin interactions
ENSG00000104312	chromatin interactions
ENSG00000251136	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11988552	chr8:90738200-90738201	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116942927	chr8:90738206-90738207	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs561459915	chr8:90738283-90738284	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs142917723	chr8:90738284-90738285	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs547782746	chr8:90738320-90738321	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs146133661	chr8:90738372-90738373	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs140169479	chr8:90738477-90738478	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs552050971	chr8:90738496-90738497	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs567006693	chr8:90738615-90738616	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs143920986	chr8:90738707-90738708	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs549277973	chr8:90738751-90738752	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs567784187	chr8:90738893-90738894	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs538326105	chr8:90738905-90738906	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs7817339	chr8:90738979-90738980	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs578067807	chr8:90739045-90739046	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs146411462	chr8:90739117-90739118	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs558039161	chr8:90739123-90739124	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs372401981	chr8:90739153-90739154	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs184325397	chr8:90739166-90739167	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs114612972	chr8:90739300-90739301	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs140714453	chr8:90739306-90739307	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs115742936	chr8:90739370-90739371	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs7839470	chr8:90739447-90739448	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7839478	chr8:90739464-90739465	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs149679354	chr8:90739477-90739478	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs1003843	chr8:90739480-90739481	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:106)

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
Autism	22495311	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
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
Acute lymphoblastic leukemia	18458336	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
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90713200-90741200	Weak transcription	Left Ventricle	heart
2	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
3	chr8:90714200-90741400	Weak transcription	Right Ventricle	heart
4	chr8:90714400-90741000	Weak transcription	Gastric	stomach
5	chr8:90715400-90741200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:90717200-90741000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:90717800-90747800	Weak transcription	Ovary	ovary
8	chr8:90720800-90742400	Weak transcription	Fetal Lung	lung
9	chr8:90721000-90740000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:90721400-90740400	Weak transcription	Fetal Intestine Large	intestine
11	chr8:90721800-90738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:90725200-90740400	Weak transcription	Small Intestine	intestine
13	chr8:90726600-90741400	Weak transcription	Esophagus	oesophagus
14	chr8:90726800-90738200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:90731000-90738200	Weak transcription	K562	blood
16	chr8:90731000-90738400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:90731800-90738600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:90732000-90738200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:90732200-90738200	Weak transcription	HSMMtube	muscle
20	chr8:90732200-90738400	Weak transcription	HSMM	muscle
21	chr8:90733600-90741200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:90734000-90741200	Weak transcription	Liver	Liver
23	chr8:90734200-90738200	Weak transcription	Aorta	Aorta
24	chr8:90734200-90738200	Weak transcription	Brain Anterior Caudate	brain
25	chr8:90734200-90739800	Weak transcription	Fetal Stomach	stomach
26	chr8:90734200-90741200	Weak transcription	Placenta	Placenta
27	chr8:90734400-90738400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:90734400-90740800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:90735200-90738400	Enhancers	GM12878-XiMat	blood
30	chr8:90735400-90741200	Weak transcription	Primary T cells from cord blood	blood
31	chr8:90735800-90740800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:90736000-90740800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:90736200-90739400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr8:90736200-90740000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:90736400-90738400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr8:90736400-90739200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr8:90736400-90739400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:90736400-90739400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr8:90736400-90739600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:90736800-90739000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:90737000-90740200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:90737000-90741000	Weak transcription	Adipose Nuclei	Adipose
43	chr8:90737000-90741400	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:90737200-90738200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:90737200-90741400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:90737400-90738600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr8:90737600-90738200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:90737600-90738400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:90737600-90738600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr8:90737600-90738600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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