Variant report

Variant	nsv891335
Chromosome Location	chr8:114589007-114725064
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	ARID3A	chr8:114720963-114720970	K562	blood:	n/a	n/a
2	ATF1	chr8:114602201-114602508	K562	blood:	n/a	n/a
3	ATF2	chr8:114697164-114697813	GM12878	blood:	n/a	n/a
4	ATF2	chr8:114616410-114616887	GM12878	blood:	n/a	n/a
5	ATF2	chr8:114696927-114697818	GM12878	blood:	n/a	n/a
6	ATF2	chr8:114687413-114687961	GM12878	blood:	n/a	n/a
7	ATF2	chr8:114687470-114687947	GM12878	blood:	n/a	n/a
8	BACH1	chr8:114627036-114627067	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr8:114616476-114616789	GM12878	blood:	n/a	chr8:114616655-114616666
10	BATF	chr8:114697315-114697659	GM12878	blood:	n/a	n/a
11	BATF	chr8:114687598-114687903	GM12878	blood:	n/a	n/a
12	BATF	chr8:114697001-114697705	GM12878	blood:	n/a	n/a
13	BATF	chr8:114628233-114628445	GM12878	blood:	n/a	chr8:114628409-114628418
14	BATF	chr8:114616421-114616811	GM12878	blood:	n/a	chr8:114616655-114616666
15	BCL11A	chr8:114697247-114697780	GM12878	blood:	n/a	n/a
16	BCL11A	chr8:114697011-114697230	GM12878	blood:	n/a	n/a
17	BCL11A	chr8:114616465-114616808	GM12878	blood:	n/a	n/a
18	BCL11A	chr8:114628249-114628426	GM12878	blood:	n/a	n/a
19	BCL11A	chr8:114664594-114664807	GM12878	blood:	n/a	chr8:114664679-114664688
20	BCL11A	chr8:114628223-114628450	GM12878	blood:	n/a	n/a
21	BCL11A	chr8:114697283-114697743	GM12878	blood:	n/a	n/a
22	BCL3	chr8:114616534-114616768	GM12878	blood:	n/a	n/a
23	BCLAF1	chr8:114697284-114697788	GM12878	blood:	n/a	n/a
24	BHLHE40	chr8:114628196-114628460	GM12878	blood:	n/a	n/a
25	BHLHE40	chr8:114697245-114697919	GM12878	blood:	n/a	n/a
26	BHLHE40	chr8:114632674-114632863	GM12878	blood:	n/a	n/a
27	CEBPB	chr8:114684177-114684395	HepG2	liver:	n/a	chr8:114684298-114684309
28	CEBPB	chr8:114596859-114597169	A549	lung:	n/a	chr8:114597009-114597018 chr8:114597009-114597018 chr8:114597008-114597019
29	CEBPB	chr8:114644448-114644688	A549	lung:	n/a	n/a
30	CEBPB	chr8:114628238-114628438	A549	lung:	n/a	n/a
31	CEBPB	chr8:114596850-114597177	HepG2	liver:	n/a	chr8:114597009-114597018 chr8:114597009-114597018 chr8:114597008-114597019
32	CEBPB	chr8:114596875-114597158	IMR90	lung:	n/a	chr8:114597009-114597018 chr8:114597009-114597018 chr8:114597008-114597019
33	CEBPB	chr8:114650121-114650321	HepG2	liver:	n/a	chr8:114650220-114650231
34	CHD1	chr8:114697217-114697733	GM12878	blood:	n/a	n/a
35	CHD2	chr8:114628229-114628444	GM12878	blood:	n/a	n/a
36	CHD2	chr8:114664539-114664867	GM12878	blood:	n/a	n/a
37	CHD2	chr8:114697054-114697875	GM12878	blood:	n/a	n/a
38	CREB1	chr8:114697274-114697793	GM12878	blood:	n/a	n/a
39	CTCF	chr8:114683050-114683098	MCF-7	breast:	n/a	n/a
40	CTCF	chr8:114697591-114697629	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr8:114704440-114704590	BE2_C	brain:	n/a	n/a
42	CTCF	chr8:114598691-114598739	MCF-7	breast:	n/a	n/a
43	CTCF	chr8:114702742-114702796	ProgFib	skin:	n/a	n/a
44	CUX1	chr8:114605184-114605542	GM12878	blood:	n/a	n/a
45	CUX1	chr8:114628250-114628502	GM12878	blood:	n/a	n/a
46	CUX1	chr8:114697222-114697796	GM12878	blood:	n/a	n/a
47	CUX1	chr8:114664583-114664773	GM12878	blood:	n/a	n/a
48	E2F4	chr8:114717939-114718094	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr8:114593050-114593250	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr8:114652224-114652290	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:114674540..114677133-chr8:114678204..114681093,2	MCF-7	breast:
2	chr8:114666240..114668992-chr8:114678548..114680585,2	K562	blood:
3	chr8:114674540..114677133-chr8:114678204..114681093,2	MCF-7	breast:
4	chr8:114666240..114668992-chr8:114678548..114680585,2	K562	blood:
5	chr8:114612946..114615304-chr8:114616262..114619018,2	K562	blood:
6	chr7:150045798..150047502-chr8:114590956..114592459,2	MCF-7	breast:
7	chr8:114612946..114615304-chr8:114616262..114619018,2	K562	blood:

Variant related genes	Relation type
ENSG00000253207	TF binding region

Extended variants
information (count: 1429 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1429 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553566597	chr8:114599425-114599426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185834674	chr8:114599440-114599441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4492406	chr8:114599447-114599448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs540710359	chr8:114599468-114599469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556120092	chr8:114599470-114599471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571013724	chr8:114599492-114599493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189811714	chr8:114599585-114599586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78087051	chr8:114599598-114599599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147344319	chr8:114599615-114599616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575235798	chr8:114599651-114599652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181076068	chr8:114599675-114599676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560680189	chr8:114599681-114599682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112054389	chr8:114599682-114599683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114043422	chr8:114599728-114599729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546029452	chr8:114599745-114599746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56207250	chr8:114599768-114599769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139469484	chr8:114599909-114599910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28475443	chr8:114599959-114599960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548443070	chr8:114599963-114599964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191999399	chr8:114599968-114599969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113424332	chr8:114599993-114599994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547141159	chr8:114600022-114600023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570359015	chr8:114600037-114600038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142527645	chr8:114600057-114600058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73701622	chr8:114600096-114600097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569608624	chr8:114600098-114600099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535080481	chr8:114600102-114600103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4384009	chr8:114600110-114600111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575147815	chr8:114600180-114600181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534500853	chr8:114600181-114600182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554405669	chr8:114600188-114600189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369996339	chr8:114600205-114600206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577555085	chr8:114600284-114600285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546263194	chr8:114600310-114600311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562869614	chr8:114600314-114600315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188455724	chr8:114600316-114600317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73701623	chr8:114600367-114600368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561749361	chr8:114600368-114600369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527576304	chr8:114600429-114600430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12334661	chr8:114600437-114600438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191984489	chr8:114600448-114600449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533005969	chr8:114600469-114600470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549967350	chr8:114600511-114600512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537235067	chr8:114600523-114600524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535549366	chr8:114600656-114600657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548954062	chr8:114600687-114600688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139542435	chr8:114600693-114600694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116961338	chr8:114600694-114600695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7010793	chr8:114600819-114600820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs60837504	chr8:114600847-114600848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114599400-114607400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:114605400-114605800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:114613800-114614400	Enhancers	Brain Hippocampus Middle	brain
4	chr8:114613800-114614400	Enhancers	Brain Substantia Nigra	brain
5	chr8:114614000-114614400	Enhancers	Brain Anterior Caudate	brain
6	chr8:114614000-114614400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr8:114614200-114615000	Enhancers	Brain Cingulate Gyrus	brain
8	chr8:114614400-114615400	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:114615600-114615800	Enhancers	Brain Hippocampus Middle	brain
10	chr8:114615600-114616000	Enhancers	Dnd41	blood
11	chr8:114630000-114630400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:114631600-114632000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:114632000-114632400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:114632400-114633600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:114644000-114644200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:114644000-114644200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:114644200-114645200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:114644200-114645200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:114644600-114645800	ZNF genes & repeats	Dnd41	blood
20	chr8:114645200-114645600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:114645200-114645600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:114645400-114646000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:114645600-114645800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:114645600-114646200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:114645800-114646000	Weak transcription	Dnd41	blood
26	chr8:114645800-114646200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:114646000-114647600	Enhancers	Dnd41	blood
28	chr8:114646200-114646400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:114646200-114646400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:114656200-114656600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:114664400-114665600	Enhancers	Primary B cells from cord blood	blood
32	chr8:114668600-114669400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:114668800-114669400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:114671400-114674200	Enhancers	Primary B cells from peripheral blood	blood
35	chr8:114671600-114672600	Enhancers	Primary B cells from cord blood	blood
36	chr8:114672600-114673600	Weak transcription	Primary B cells from cord blood	blood
37	chr8:114673600-114674400	Enhancers	Primary B cells from cord blood	blood
38	chr8:114674200-114676600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr8:114676600-114677200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
40	chr8:114676800-114677200	ZNF genes & repeats	Dnd41	blood
41	chr8:114677200-114677800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr8:114677800-114678200	Enhancers	Primary B cells from peripheral blood	blood
43	chr8:114677800-114678200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr8:114696000-114697800	Active TSS	Brain Anterior Caudate	brain
45	chr8:114696400-114697000	Enhancers	Primary B cells from cord blood	blood
46	chr8:114696400-114697200	Enhancers	GM12878-XiMat	blood
47	chr8:114696800-114698200	Enhancers	Primary B cells from peripheral blood	blood
48	chr8:114697000-114697200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr8:114697000-114697400	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr8:114697000-114698200	Enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links