Variant report

Variant	nsv891332
Chromosome Location	chr8:114532488-114667112
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	ATF1	chr8:114602201-114602508	K562	blood:	n/a	n/a
2	ATF2	chr8:114616410-114616887	GM12878	blood:	n/a	n/a
3	BACH1	chr8:114627036-114627067	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr8:114558289-114558602	GM12878	blood:	n/a	chr8:114558418-114558429
5	BATF	chr8:114616421-114616811	GM12878	blood:	n/a	chr8:114616655-114616666
6	BATF	chr8:114628233-114628445	GM12878	blood:	n/a	chr8:114628409-114628418
7	BATF	chr8:114557470-114557830	GM12878	blood:	n/a	n/a
8	BATF	chr8:114616476-114616789	GM12878	blood:	n/a	chr8:114616655-114616666
9	BCL11A	chr8:114557538-114557718	GM12878	blood:	n/a	n/a
10	BCL11A	chr8:114557482-114557775	GM12878	blood:	n/a	chr8:114557526-114557535
11	BCL11A	chr8:114628223-114628450	GM12878	blood:	n/a	n/a
12	BCL11A	chr8:114664594-114664807	GM12878	blood:	n/a	chr8:114664679-114664688
13	BCL11A	chr8:114628249-114628426	GM12878	blood:	n/a	n/a
14	BCL11A	chr8:114558218-114558592	GM12878	blood:	n/a	n/a
15	BCL11A	chr8:114616465-114616808	GM12878	blood:	n/a	n/a
16	BCL3	chr8:114616534-114616768	GM12878	blood:	n/a	n/a
17	BHLHE40	chr8:114628196-114628460	GM12878	blood:	n/a	n/a
18	BHLHE40	chr8:114632674-114632863	GM12878	blood:	n/a	n/a
19	CEBPB	chr8:114644448-114644688	A549	lung:	n/a	n/a
20	CEBPB	chr8:114596859-114597169	A549	lung:	n/a	chr8:114597009-114597018 chr8:114597009-114597018 chr8:114597008-114597019
21	CEBPB	chr8:114596875-114597158	IMR90	lung:	n/a	chr8:114597009-114597018 chr8:114597009-114597018 chr8:114597008-114597019
22	CEBPB	chr8:114577900-114578032	A549	lung:	n/a	n/a
23	CEBPB	chr8:114628238-114628438	A549	lung:	n/a	n/a
24	CEBPB	chr8:114650121-114650321	HepG2	liver:	n/a	chr8:114650220-114650231
25	CEBPB	chr8:114596850-114597177	HepG2	liver:	n/a	chr8:114597009-114597018 chr8:114597009-114597018 chr8:114597008-114597019
26	CHD2	chr8:114664539-114664867	GM12878	blood:	n/a	n/a
27	CHD2	chr8:114628229-114628444	GM12878	blood:	n/a	n/a
28	CTCF	chr8:114598691-114598739	MCF-7	breast:	n/a	n/a
29	CTCF	chr8:114543063-114543093	H1-hESC	embryonic stem cell:	n/a	n/a
30	CUX1	chr8:114564983-114565054	GM12878	blood:	n/a	n/a
31	CUX1	chr8:114605184-114605542	GM12878	blood:	n/a	n/a
32	CUX1	chr8:114664583-114664773	GM12878	blood:	n/a	n/a
33	CUX1	chr8:114628250-114628502	GM12878	blood:	n/a	n/a
34	E2F4	chr8:114582852-114582947	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr8:114652224-114652290	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr8:114632169-114632401	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr8:114605925-114605990	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr8:114573368-114573563	MCF10A-Er-Src	breast:	n/a	chr8:114573514-114573523
39	E2F4	chr8:114593050-114593250	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr8:114632905-114633280	MCF10A-Er-Src	breast:	n/a	n/a
41	EBF1	chr8:114616380-114616852	GM12878	blood:	n/a	chr8:114616668-114616679
42	EBF1	chr8:114557538-114557795	GM12878	blood:	n/a	chr8:114557674-114557685
43	EBF1	chr8:114628155-114628480	GM12878	blood:	n/a	n/a
44	EBF1	chr8:114627740-114627756	GM12878	blood:	n/a	n/a
45	EBF1	chr8:114632618-114633098	GM12878	blood:	n/a	chr8:114632870-114632881
46	EBF1	chr8:114558296-114558566	GM12878	blood:	n/a	n/a
47	EP300	chr8:114558210-114558887	GM12878	blood:	n/a	chr8:114558844-114558853 chr8:114558845-114558854
48	EP300	chr8:114616503-114616804	GM12878	blood:	n/a	n/a
49	EP300	chr8:114632645-114632975	GM12878	blood:	n/a	n/a
50	EP300	chr8:114664631-114664883	GM12878	blood:	n/a	chr8:114664747-114664756

No.	Distal block	Cell Line	Cell type
1	chr8:114612946..114615304-chr8:114616262..114619018,2	K562	blood:
2	chr8:114666240..114668992-chr8:114678548..114680585,2	K562	blood:
3	chr8:114541168..114543113-chr8:114544856..114546688,2	K562	blood:
4	chr7:150045798..150047502-chr8:114590956..114592459,2	MCF-7	breast:
5	chr8:114541168..114543113-chr8:114544856..114546688,2	K562	blood:
6	chr8:114547467..114549500-chr8:114550748..114552358,2	MCF-7	breast:
7	chr8:114547467..114549500-chr8:114550748..114552358,2	MCF-7	breast:
8	chr8:114612946..114615304-chr8:114616262..114619018,2	K562	blood:

Variant related genes	Relation type
ENSG00000253207	TF binding region

Extended variants
information (count: 1180 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1180 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11786058	chr8:114532488-114532489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79929173	chr8:114532508-114532509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560953633	chr8:114532509-114532510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574350855	chr8:114532540-114532541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548481989	chr8:114532592-114532593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561975581	chr8:114532602-114532603	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540153876	chr8:114532615-114532616	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186639451	chr8:114532618-114532619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531033372	chr8:114532624-114532625	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545760289	chr8:114532628-114532629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532184564	chr8:114532655-114532656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113152129	chr8:114532667-114532668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574541968	chr8:114532668-114532669	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562432810	chr8:114532677-114532678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79415832	chr8:114532707-114532708	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548159352	chr8:114532722-114532723	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56961237	chr8:114532723-114532724	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190159692	chr8:114532743-114532744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78949354	chr8:114532774-114532775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370879467	chr8:114532821-114532822	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538850843	chr8:114532848-114532849	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181859620	chr8:114532880-114532881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575606474	chr8:114532887-114532888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537959197	chr8:114532906-114532907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7829130	chr8:114532922-114532923	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs574515272	chr8:114532923-114532924	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146216932	chr8:114532930-114532931	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139240778	chr8:114532941-114532942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377062709	chr8:114532955-114532956	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186498067	chr8:114532958-114532959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545673947	chr8:114532968-114532969	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149505142	chr8:114532991-114532992	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77373624	chr8:114532994-114532995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550678286	chr8:114533009-114533010	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190428871	chr8:114533011-114533012	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375638308	chr8:114533012-114533013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144089501	chr8:114533027-114533028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527254584	chr8:114533042-114533043	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547412066	chr8:114533093-114533094	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79266030	chr8:114533118-114533119	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182101251	chr8:114533119-114533120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555918295	chr8:114533133-114533134	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11786953	chr8:114533141-114533142	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs375414121	chr8:114533150-114533151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537923780	chr8:114533151-114533152	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554623562	chr8:114533215-114533216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148688697	chr8:114533240-114533241	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs118037161	chr8:114533306-114533307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373745066	chr8:114533383-114533384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567086437	chr8:114533402-114533403	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114530600-114536800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:114532600-114534600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr8:114532600-114534800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:114536800-114537400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:114537400-114538200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr8:114539000-114539400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:114544400-114544600	Flanking Active TSS	Esophagus	oesophagus
8	chr8:114555200-114556200	Enhancers	Fetal Brain Male	brain
9	chr8:114556200-114556600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:114569800-114570200	Enhancers	Fetal Brain Male	brain
11	chr8:114569800-114570600	Enhancers	Dnd41	blood
12	chr8:114571400-114571800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:114599400-114607400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:114605400-114605800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:114613800-114614400	Enhancers	Brain Hippocampus Middle	brain
16	chr8:114613800-114614400	Enhancers	Brain Substantia Nigra	brain
17	chr8:114614000-114614400	Enhancers	Brain Anterior Caudate	brain
18	chr8:114614000-114614400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr8:114614200-114615000	Enhancers	Brain Cingulate Gyrus	brain
20	chr8:114614400-114615400	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:114615600-114615800	Enhancers	Brain Hippocampus Middle	brain
22	chr8:114615600-114616000	Enhancers	Dnd41	blood
23	chr8:114630000-114630400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:114631600-114632000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:114632000-114632400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:114632400-114633600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:114644000-114644200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:114644000-114644200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:114644200-114645200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:114644200-114645200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:114644600-114645800	ZNF genes & repeats	Dnd41	blood
32	chr8:114645200-114645600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:114645200-114645600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:114645400-114646000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:114645600-114645800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:114645600-114646200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:114645800-114646000	Weak transcription	Dnd41	blood
38	chr8:114645800-114646200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:114646000-114647600	Enhancers	Dnd41	blood
40	chr8:114646200-114646400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:114646200-114646400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:114656200-114656600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:114664400-114665600	Enhancers	Primary B cells from cord blood	blood

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