Variant report

Variant	nsv981909
Chromosome Location	chr8:9105754-9106809
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	chr8:9106581-9106674	K562	blood:	n/a	n/a
2	ATF1	chr8:9106470-9106696	K562	blood:	n/a	n/a
3	ATF2	chr8:9106397-9106813	GM12878	blood:	n/a	n/a
4	ATF2	chr8:9106362-9106824	GM12878	blood:	n/a	n/a
5	BATF	chr8:9106307-9106946	GM12878	blood:	n/a	chr8:9106632-9106643 chr8:9106633-9106643
6	BATF	chr8:9106372-9106826	GM12878	blood:	n/a	chr8:9106632-9106643 chr8:9106633-9106643
7	BCL11A	chr8:9106430-9106921	GM12878	blood:	n/a	chr8:9106636-9106645 chr8:9106635-9106644
8	BCL11A	chr8:9106380-9106943	GM12878	blood:	n/a	chr8:9106636-9106645 chr8:9106635-9106644
9	BCLAF1	chr8:9106457-9106732	GM12878	blood:	n/a	chr8:9106636-9106645 chr8:9106635-9106644
10	BHLHE40	chr8:9106199-9106847	GM12878	blood:	n/a	n/a
11	CHD2	chr8:9106307-9106725	GM12878	blood:	n/a	n/a
12	CTCF	chr8:9106473-9106684	K562	blood:	n/a	n/a
13	CTCF	chr8:9106501-9106643	GM12892	blood:	n/a	n/a
14	CTCF	chr8:9106440-9106722	K562	blood:	n/a	n/a
15	CTCF	chr8:9106480-9106630	GM06990	blood:	n/a	n/a
16	CTCF	chr8:9106554-9106617	GM12891	blood:	n/a	n/a
17	CTCF	chr8:9106492-9106653	GM10266	blood:	n/a	n/a
18	CTCF	chr8:9106397-9106732	K562	blood:	n/a	n/a
19	CTCF	chr8:9106420-9106570	RPTEC	kidney:	n/a	n/a
20	CTCF	chr8:9106540-9106690	NB4	blood:	n/a	n/a
21	CTCF	chr8:9106369-9106733	K562	blood:	n/a	n/a
22	CTCF	chr8:9106518-9106615	Gliobla	brain:	n/a	n/a
23	CTCF	chr8:9106400-9106550	GM12869	blood:	n/a	n/a
24	CTCF	chr8:9106500-9106650	GM12864	blood:	n/a	n/a
25	CTCF	chr8:9106390-9106761	GM12878	blood:	n/a	n/a
26	CTCF	chr8:9106340-9106490	GM12866	blood:	n/a	n/a
27	CTCF	chr8:9106480-9106630	GM12871	blood:	n/a	n/a
28	CTCF	chr8:9106494-9106654	GM19238	blood:	n/a	n/a
29	CTCF	chr8:9106487-9106660	GM19239	blood:	n/a	n/a
30	CTCF	chr8:9106506-9106654	GM19240	blood:	n/a	n/a
31	CTCF	chr8:9106598-9106615	HepG2	liver:	n/a	n/a
32	CTCF	chr8:9106180-9106330	RPTEC	kidney:	n/a	n/a
33	CTCF	chr8:9106540-9106690	GM12874	blood:	n/a	n/a
34	CTCF	chr8:9106480-9106630	GM12874	blood:	n/a	n/a
35	CTCF	chr8:9106460-9106610	GM06990	blood:	n/a	n/a
36	CTCF	chr8:9106520-9106670	HCM	heart:	n/a	n/a
37	CTCF	chr8:9106280-9106430	GM12872	blood:	n/a	n/a
38	CTCF	chr8:9106460-9106610	GM12872	blood:	n/a	n/a
39	CTCF	chr8:9106520-9106670	GM12878	blood:	n/a	n/a
40	CTCF	chr8:9106540-9106690	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr8:9106540-9106690	GM12873	blood:	n/a	n/a
42	CTCF	chr8:9106520-9106670	GM12864	blood:	n/a	n/a
43	CTCF	chr8:9106500-9106650	GM12872	blood:	n/a	n/a
44	CTCF	chr8:9106440-9106590	HCT-116	colon:	n/a	n/a
45	CTCF	chr8:9106532-9106577	K562	blood:	n/a	n/a
46	CTCF	chr8:9106478-9106692	GM12878	blood:	n/a	n/a
47	EBF1	chr8:9106390-9106835	GM12878	blood:	n/a	n/a
48	EBF1	chr8:9106484-9106987	GM12878	blood:	n/a	n/a
49	EBF1	chr8:9106470-9106916	GM12878	blood:	n/a	n/a
50	EP300	chr8:9106431-9106787	GM12878	blood:	n/a	chr8:9106727-9106741 chr8:9106636-9106645 chr8:9106728-9106737 chr8:9106635-9106644

No.	Distal block	Cell Line	Cell type
1	chr8:9095921..9098459-chr8:9104554..9106558,2	K562	blood:
2	chr8:9104792..9106778-chr8:9108609..9110525,2	K562	blood:
3	chr8:9103215..9105968-chr8:9109700..9112241,2	K562	blood:

Variant related genes	Relation type
ENSG00000254235	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563789139	chr8:9105787-9105788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574066673	chr8:9105825-9105826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537187941	chr8:9105829-9105830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190067987	chr8:9105866-9105867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542883662	chr8:9105929-9105930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559896160	chr8:9105931-9105932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528825318	chr8:9106027-9106028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181143313	chr8:9106037-9106038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369143907	chr8:9106053-9106054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565207530	chr8:9106065-9106066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138977395	chr8:9106076-9106077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75636846	chr8:9106082-9106083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7003646	chr8:9106110-9106111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546131554	chr8:9106122-9106123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186277753	chr8:9106126-9106127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558923863	chr8:9106134-9106135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546517923	chr8:9106176-9106177	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs149009934	chr8:9106192-9106193	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs377108009	chr8:9106202-9106203	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs528081011	chr8:9106204-9106205	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs74343151	chr8:9106235-9106236	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs190206509	chr8:9106280-9106281	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs561647427	chr8:9106285-9106286	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs112754073	chr8:9106313-9106314	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs182203211	chr8:9106340-9106341	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs530655239	chr8:9106422-9106423	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs138493744	chr8:9106425-9106426	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs557373746	chr8:9106455-9106456	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs574098973	chr8:9106492-9106493	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs561842725	chr8:9106502-9106503	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs553143959	chr8:9106534-9106535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs111542514	chr8:9106569-9106570	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs530200316	chr8:9106583-9106584	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs373041221	chr8:9106633-9106634	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs17149626	chr8:9106638-9106639	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
36	rs543850329	chr8:9106640-9106641	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs116068999	chr8:9106651-9106652	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs529616449	chr8:9106655-9106656	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs546679804	chr8:9106689-9106690	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs561707603	chr8:9106693-9106694	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs566417616	chr8:9106714-9106715	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs143956562	chr8:9106744-9106745	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:135)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9095200-9114400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:9098000-9110400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:9099800-9106000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:9100000-9106200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:9101400-9106200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:9102600-9106200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:9102600-9110600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:9103000-9107800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:9104400-9106800	Enhancers	Liver	Liver
10	chr8:9104600-9106200	Enhancers	Colon Smooth Muscle	Colon
11	chr8:9104800-9106000	Enhancers	Rectal Smooth Muscle	rectum
12	chr8:9105200-9106200	Weak transcription	Pancreas	Pancrea
13	chr8:9105200-9113200	Weak transcription	Aorta	Aorta
14	chr8:9105400-9106400	Enhancers	Fetal Heart	heart
15	chr8:9105600-9106400	Enhancers	Brain Substantia Nigra	brain
16	chr8:9105600-9106600	Enhancers	Brain Cingulate Gyrus	brain
17	chr8:9106000-9106200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:9106000-9106200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr8:9106000-9106600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:9106000-9106800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:9106000-9107400	Enhancers	GM12878-XiMat	blood
22	chr8:9106200-9106400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:9106200-9106400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:9106200-9106400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:9106200-9106400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:9106200-9106400	Enhancers	Stomach Smooth Muscle	stomach
27	chr8:9106200-9106600	Enhancers	Brain Angular Gyrus	brain
28	chr8:9106200-9106600	Enhancers	Brain Hippocampus Middle	brain
29	chr8:9106200-9106600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr8:9106200-9106600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr8:9106200-9106800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr8:9106200-9106800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:9106200-9106800	Enhancers	Brain Anterior Caudate	brain
34	chr8:9106200-9107200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:9106200-9107400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:9106200-9107400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:9106200-9107400	Enhancers	Pancreas	Pancrea
38	chr8:9106400-9106600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr8:9106400-9106600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:9106400-9106600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:9106400-9106600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
42	chr8:9106400-9111000	Weak transcription	Brain Substantia Nigra	brain
43	chr8:9106600-9107000	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr8:9106600-9107400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:9106600-9110600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:9106600-9110600	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:9106600-9111800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:9106600-9113000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:9106800-9107200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:9106800-9109800	Weak transcription	Liver	Liver

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