Variant report

Variant	esv3375723
Chromosome Location	chr1:179330777-179331346
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	POLR2A	chr1:179331037-179331459	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:179330939..179332441-chr1:179334465..179336040,2	MCF-7	breast:
2	chr1:179329907..179332888-chr1:179333300..179336235,2	MCF-7	breast:
3	chr1:179323629..179325492-chr1:179329945..179332466,2	MCF-7	breast:
4	chr1:179325938..179328666-chr1:179330165..179332477,2	K562	blood:

Variant related genes	Relation type
RN7SL374P	TF binding region
AXDND1	TF binding region
ENSG00000263633	chromatin interactions
ENSG00000162779	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61821461	chr1:179330800-179330801	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs180817306	chr1:179330824-179330825	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs571934888	chr1:179330908-179330909	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs186102087	chr1:179330941-179330942	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs547722295	chr1:179330960-179330961	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs7349152	chr1:179331001-179331002	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs367915270	chr1:179331040-179331041	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs556217868	chr1:179331043-179331044	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs111972952	chr1:179331079-179331080	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
10	rs538414647	chr1:179331081-179331082	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs558441110	chr1:179331100-179331101	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs189916832	chr1:179331157-179331158	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs540966595	chr1:179331205-179331206	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs565679892	chr1:179331206-179331207	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs574334712	chr1:179331216-179331217	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs143646248	chr1:179331222-179331223	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs563341726	chr1:179331245-179331246	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs75796274	chr1:179331255-179331256	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs182580297	chr1:179331263-179331264	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs6682068	chr1:179331293-179331294	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs201785388	chr1:179331309-179331310	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs56079864	chr1:179331310-179331311	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs187188948	chr1:179331327-179331328	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs528033844	chr1:179331335-179331336	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	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
Glioblastoma multiforme	21080181	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
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	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
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179264800-179334200	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:179300400-179334600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:179305600-179334200	Weak transcription	Pancreas	Pancrea
4	chr1:179312600-179334400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:179314800-179334400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:179315000-179334400	Weak transcription	Brain Substantia Nigra	brain
7	chr1:179315000-179334400	Weak transcription	Left Ventricle	heart
8	chr1:179315400-179334400	Weak transcription	Fetal Kidney	kidney
9	chr1:179315600-179334400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:179315800-179334200	Weak transcription	Fetal Thymus	thymus
11	chr1:179316000-179334000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:179316000-179334200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:179316000-179334400	Weak transcription	Fetal Brain Female	brain
14	chr1:179316000-179334400	Weak transcription	Ovary	ovary
15	chr1:179316400-179332800	Weak transcription	Fetal Intestine Small	intestine
16	chr1:179317600-179334400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:179319200-179334400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:179319800-179334000	Weak transcription	HepG2	liver
19	chr1:179319800-179334200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:179320000-179334600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:179320800-179334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:179320800-179334200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:179320800-179334400	Weak transcription	Fetal Lung	lung
24	chr1:179321000-179334200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:179321200-179334400	Weak transcription	Fetal Stomach	stomach
26	chr1:179321200-179334400	Weak transcription	Lung	lung
27	chr1:179322400-179334200	Weak transcription	Primary B cells from cord blood	blood
28	chr1:179323000-179333400	Weak transcription	Placenta	Placenta
29	chr1:179323000-179334200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:179323000-179334200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:179323000-179334200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:179323000-179334400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:179323000-179334400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:179323000-179334400	Weak transcription	NH-A	brain
35	chr1:179323000-179334400	Weak transcription	Osteobl	bone
36	chr1:179323200-179334200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:179323200-179334200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:179323200-179334200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:179323200-179334200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:179323200-179334200	Weak transcription	A549	lung
41	chr1:179323200-179334400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:179323200-179334400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:179323200-179334400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:179323200-179334400	Weak transcription	Fetal Heart	heart
45	chr1:179323200-179334400	Weak transcription	Fetal Intestine Large	intestine
46	chr1:179323400-179334000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:179323400-179334200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:179323600-179334400	Weak transcription	NHLF	lung
49	chr1:179324000-179334200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:179324200-179334000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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