Variant report

Variant	esv3453432
Chromosome Location	chr1:169442958-169445690
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	CEBPB	chr1:169441776-169443025	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr1:169443973-169444137	Hela-S3	cervix:	n/a	n/a
3	GATA3	chr1:169444047-169444338	SH-SY5Y	brain:	n/a	chr1:169444283-169444293 chr1:169444277-169444298 chr1:169444311-169444327 chr1:169444280-169444296 chr1:169444284-169444293 chr1:169444284-169444291 chr1:169444281-169444291
4	MAFF	chr1:169443657-169443850	K562	blood:	n/a	chr1:169443737-169443755
5	MAFF	chr1:169443569-169443896	HepG2	liver:	n/a	chr1:169443737-169443755
6	MAFK	chr1:169443645-169443922	Hela-S3	cervix:	n/a	n/a
7	MAFK	chr1:169443666-169443842	K562	blood:	n/a	n/a
8	MAFK	chr1:169443556-169443900	HepG2	liver:	n/a	n/a
9	MAFK	chr1:169443567-169443846	IMR90	lung:	n/a	n/a
10	MAFK	chr1:169443584-169443906	HepG2	liver:	n/a	n/a
11	MYC	chr1:169443822-169443942	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr1:169442849-169444602	K562	blood:	n/a	n/a
13	POLR2A	chr1:169444936-169445006	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:169443980-169444216	HepG2	liver:	n/a	n/a
15	RCOR1	chr1:169442787-169443010	Hela-S3	cervix:	n/a	n/a
16	RPC155	chr1:169442350-169442959	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:168590276..168592775-chr1:169444079..169445970,2	K562	blood:
2	chr1:169439520..169441636-chr1:169445600..169448218,2	MCF-7	breast:
3	chr1:169435618..169443312-chr1:169452571..169456844,11	MCF-7	breast:
4	chr1:169445664..169448576-chr1:169507700..169509701,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234604	TF binding region
ENSG00000213062	chromatin interactions
ENSG00000117479	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545109210	chr1:169442964-169442965	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201163204	chr1:169442975-169442976	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148622489	chr1:169442998-169442999	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs142973945	chr1:169443104-169443105	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs539264828	chr1:169443105-169443106	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs185225557	chr1:169443130-169443131	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs190156439	chr1:169443156-169443157	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs536249659	chr1:169443283-169443284	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs554954036	chr1:169443326-169443327	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146643548	chr1:169443344-169443345	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544515327	chr1:169443382-169443383	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558226813	chr1:169443453-169443454	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs193250623	chr1:169443457-169443458	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs573170927	chr1:169443510-169443511	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs543259451	chr1:169443637-169443638	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs184529626	chr1:169443683-169443684	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs532021714	chr1:169443725-169443726	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs577397361	chr1:169443768-169443769	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs377588519	chr1:169443784-169443785	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs575169213	chr1:169443828-169443829	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs543851939	chr1:169443832-169443833	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs554064810	chr1:169443855-169443856	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs560827288	chr1:169443907-169443908	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs189370198	chr1:169443932-169443933	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs180729176	chr1:169444060-169444061	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs548660121	chr1:169444068-169444069	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs572634824	chr1:169444081-169444082	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs531884846	chr1:169444199-169444200	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs146807832	chr1:169444241-169444242	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs185168655	chr1:169444263-169444264	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs532746253	chr1:169444266-169444267	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs548058932	chr1:169444369-169444370	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs189767250	chr1:169444461-169444462	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs536762014	chr1:169444522-169444523	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs150391252	chr1:169444546-169444547	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs145185459	chr1:169444678-169444679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80032696	chr1:169444738-169444739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554295207	chr1:169444776-169444777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111725015	chr1:169444786-169444787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372670827	chr1:169444795-169444796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540408463	chr1:169444862-169444863	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577562771	chr1:169444938-169444939	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs181405927	chr1:169444953-169444954	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs528527849	chr1:169444959-169444960	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs186923076	chr1:169444965-169444966	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs572009451	chr1:169444977-169444978	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs542730050	chr1:169445004-169445005	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs551861009	chr1:169445008-169445009	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560848147	chr1:169445044-169445045	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531321426	chr1:169445055-169445056	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169429600-169448200	Weak transcription	Fetal Heart	heart
2	chr1:169429800-169446400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:169430000-169443800	Weak transcription	Brain Substantia Nigra	brain
4	chr1:169430000-169444800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:169430000-169445600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:169430000-169445600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:169430000-169446200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:169430000-169446200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:169430000-169446200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:169430000-169446400	Weak transcription	HUVEC	blood vessel
11	chr1:169430000-169450000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:169430000-169452000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:169430000-169452000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:169430000-169452600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:169430000-169452800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:169430000-169452800	Weak transcription	Brain Germinal Matrix	brain
17	chr1:169430000-169452800	Weak transcription	HMEC	breast
18	chr1:169430000-169452800	Weak transcription	NHDF-Ad	bronchial
19	chr1:169430000-169452800	Weak transcription	NHEK	skin
20	chr1:169430000-169453400	Weak transcription	Colonic Mucosa	Colon
21	chr1:169430000-169453800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:169430000-169454000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:169430000-169454400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:169430000-169454400	Weak transcription	Spleen	Spleen
25	chr1:169430200-169444800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:169430200-169445400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:169430200-169445600	Weak transcription	Fetal Intestine Small	intestine
28	chr1:169430200-169445600	Weak transcription	Fetal Stomach	stomach
29	chr1:169430200-169446200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:169430200-169446200	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:169430200-169446200	Weak transcription	Lung	lung
32	chr1:169430200-169446200	Weak transcription	Pancreas	Pancrea
33	chr1:169430200-169446400	Weak transcription	Thymus	Thymus
34	chr1:169430200-169450600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:169430200-169451800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:169430200-169452600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:169430200-169452600	Weak transcription	NH-A	brain
38	chr1:169430200-169453200	Weak transcription	Esophagus	oesophagus
39	chr1:169430600-169446200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:169430600-169446200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:169430600-169452800	Weak transcription	Small Intestine	intestine
42	chr1:169430800-169446200	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:169431200-169446800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:169431200-169452000	Weak transcription	GM12878-XiMat	blood
45	chr1:169431400-169446200	Weak transcription	Fetal Brain Male	brain
46	chr1:169432600-169443000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:169434600-169452600	Weak transcription	Primary B cells from cord blood	blood
48	chr1:169435200-169448400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:169435200-169452800	Weak transcription	Fetal Kidney	kidney
50	chr1:169435400-169445400	Weak transcription	H1 Cell Line	embryonic stem cell

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