Variant report

Variant	esv3322687
Chromosome Location	chr1:161138736-161139162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYA	chr1:161139000-161139299	K562	blood:	n/a	n/a
2	POLR2A	chr1:161138938-161139616	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:161138742-161138988	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:161138796-161139052	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:161138578-161138766	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:161139058-161139082	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:161139144-161139152	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:161139157-161139917	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:161138765-161142174	K562	blood:	n/a	n/a
10	POLR2A	chr1:161139062-161139891	K562	blood:	n/a	n/a
11	POLR2A	chr1:161139153-161139260	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:161139158-161140069	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161135373..161143326-chr1:161144272..161149580,16	MCF-7	breast:
2	chr1:161085942..161091087-chr1:161134747..161138869,10	K562	blood:
3	chr1:161137931..161140889-chr1:161281311..161284069,2	K562	blood:
4	chr1:161135753..161138931-chr1:161140276..161143695,4	MCF-7	breast:

No data

Variant related genes	Relation type
PPOX	TF binding region
ENSG00000143252	chromatin interactions
ENSG00000158850	chromatin interactions
ENSG00000158793	chromatin interactions
ENSG00000143256	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369589734	chr1:161138745-161138746	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs373016622	chr1:161138758-161138759	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs200192089	chr1:161138777-161138778	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs142407722	chr1:161138816-161138817	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs547874675	chr1:161138824-161138825	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs141116029	chr1:161138833-161138834	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs150335996	chr1:161138844-161138845	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs121918323	chr1:161138860-161138861	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs12030747	chr1:161138866-161138867	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149049124	chr1:161138907-161138908	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs12735723	chr1:161138933-161138934	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs41270027	chr1:161138947-161138948	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs373852733	chr1:161138962-161138963	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs376945264	chr1:161138965-161138966	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs569993390	chr1:161138966-161138967	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs374821837	chr1:161138977-161138978	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs367932406	chr1:161138984-161138985	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs535712246	chr1:161138991-161138992	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs555643633	chr1:161139024-161139025	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs370472240	chr1:161139032-161139033	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs541211569	chr1:161139071-161139072	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs571796245	chr1:161139125-161139126	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	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
Bladder cancer	21909424	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161137000-161138800	Weak transcription	Aorta	Aorta
2	chr1:161137000-161140200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:161137200-161139200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:161137200-161139200	Weak transcription	Left Ventricle	heart
5	chr1:161137200-161139200	Weak transcription	HSMMtube	muscle
6	chr1:161137200-161139600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:161137200-161140200	Weak transcription	Stomach Mucosa	stomach
8	chr1:161137200-161140400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:161137200-161140400	Weak transcription	Fetal Kidney	kidney
10	chr1:161137200-161140800	Weak transcription	Fetal Heart	heart
11	chr1:161137200-161140800	Weak transcription	Psoas Muscle	Psoas
12	chr1:161137200-161142400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:161137200-161146400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:161137400-161138800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:161137400-161138800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:161137400-161138800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:161137400-161138800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:161137400-161138800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:161137400-161138800	Weak transcription	Primary B cells from cord blood	blood
20	chr1:161137400-161138800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:161137400-161138800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:161137400-161138800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:161137400-161138800	Weak transcription	Colonic Mucosa	Colon
24	chr1:161137400-161138800	Weak transcription	Thymus	Thymus
25	chr1:161137400-161138800	Weak transcription	NHLF	lung
26	chr1:161137400-161138800	Weak transcription	Osteobl	bone
27	chr1:161137400-161139000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:161137400-161139000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:161137400-161139000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:161137400-161139000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:161137400-161139000	Weak transcription	Brain Angular Gyrus	brain
32	chr1:161137400-161139000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:161137400-161139000	Weak transcription	HSMM	muscle
34	chr1:161137400-161139000	Weak transcription	HUVEC	blood vessel
35	chr1:161137400-161139000	Weak transcription	NH-A	brain
36	chr1:161137400-161139200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:161137400-161139200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:161137400-161139200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:161137400-161139400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:161137400-161139400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr1:161137400-161139400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:161137400-161139600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:161137400-161139600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:161137400-161139600	Weak transcription	NHEK	skin
45	chr1:161137400-161140200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr1:161137400-161140200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:161137400-161140200	Weak transcription	HMEC	breast
48	chr1:161137400-161140400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:161137400-161140400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:161137400-161140600	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links