Variant report

Variant	nsv946526
Chromosome Location	chr1:179936327-179938655
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	chr1:179938631-179938819	K562	blood:	n/a	n/a
2	KAP1	chr1:179935723-179936484	K562	blood:	n/a	n/a
3	MAFK	chr1:179938461-179938672	HepG2	liver:	n/a	chr1:179938538-179938553
4	MAFK	chr1:179938437-179938661	HepG2	liver:	n/a	chr1:179938538-179938553
5	POLR2A	chr1:179938332-179938347	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:179937386-179937394	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:179923424..179925663-chr1:179935642..179938173,4	MCF-7	breast:
2	chr1:179922758..179925487-chr1:179931263..179936967,5	MCF-7	breast:
3	chr1:179937946..179940776-chr1:179952862..179955374,2	K562	blood:
4	chr1:179927273..179932264-chr1:179932290..179936939,6	K562	blood:
5	chr1:179921069..179927710-chr1:179937007..179944258,10	K562	blood:

Variant related genes	Relation type
ENSG00000235145	TF binding region
ENSG00000260360	chromatin interactions
ENSG00000135837	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139593705	chr1:179936355-179936356	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs561555730	chr1:179936379-179936380	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs191404396	chr1:179936382-179936383	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs564506878	chr1:179936455-179936456	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs533615710	chr1:179936474-179936475	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs183931509	chr1:179936521-179936522	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs545133047	chr1:179936524-179936525	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs149719685	chr1:179936575-179936576	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs9701232	chr1:179936579-179936580	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs145544084	chr1:179936586-179936587	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528513794	chr1:179936607-179936608	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs546668206	chr1:179936632-179936633	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs9701237	chr1:179936639-179936640	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs571348549	chr1:179936640-179936641	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs562244808	chr1:179936647-179936648	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs9699897	chr1:179936651-179936652	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553547128	chr1:179936686-179936687	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs74328272	chr1:179936689-179936690	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs558763005	chr1:179936740-179936741	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373638755	chr1:179936741-179936742	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs536225791	chr1:179936794-179936795	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs112774756	chr1:179936798-179936799	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs576142277	chr1:179936799-179936800	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs544569894	chr1:179936814-179936815	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs141202952	chr1:179936835-179936836	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs578077701	chr1:179936847-179936848	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs375465699	chr1:179936878-179936879	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs529383494	chr1:179936891-179936892	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs370194384	chr1:179936899-179936900	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs78116054	chr1:179936902-179936903	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs181088705	chr1:179936905-179936906	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs529370079	chr1:179936924-179936925	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs145078347	chr1:179936957-179936958	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs562531736	chr1:179936960-179936961	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs531775559	chr1:179936975-179936976	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs117909770	chr1:179936989-179936990	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs184966013	chr1:179937011-179937012	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs551227966	chr1:179937032-179937033	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs533713108	chr1:179937055-179937056	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs12738410	chr1:179937087-179937088	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs547632731	chr1:179937091-179937092	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs189858077	chr1:179937111-179937112	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs536338130	chr1:179937138-179937139	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs556334828	chr1:179937153-179937154	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs374272046	chr1:179937178-179937179	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs538633529	chr1:179937182-179937183	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs10913916	chr1:179937186-179937187	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs151273934	chr1:179937225-179937226	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs549342020	chr1:179937258-179937259	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs567592287	chr1:179937263-179937264	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:249 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179924800-179937800	Weak transcription	Spleen	Spleen
2	chr1:179924800-179938000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:179924800-179938000	Weak transcription	Lung	lung
4	chr1:179924800-179963600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:179925200-179946200	Weak transcription	Stomach Mucosa	stomach
6	chr1:179925400-179946000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:179925600-179938400	Weak transcription	HSMM	muscle
8	chr1:179925800-179937600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:179925800-179937600	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:179925800-179937600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:179925800-179937800	Weak transcription	Thymus	Thymus
12	chr1:179925800-179940600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:179926000-179937800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:179926000-179938000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:179926000-179938000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:179926000-179938000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:179926000-179938000	Weak transcription	Right Atrium	heart
18	chr1:179926000-179938200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:179926000-179938400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:179926400-179937800	Weak transcription	Brain Angular Gyrus	brain
21	chr1:179926800-179961400	Weak transcription	A549	lung
22	chr1:179927000-179937800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:179927000-179965600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:179927200-179937600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:179927200-179940600	Weak transcription	NHDF-Ad	bronchial
26	chr1:179928000-179939000	Weak transcription	Fetal Heart	heart
27	chr1:179928600-179937200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr1:179928600-179937200	Weak transcription	Left Ventricle	heart
29	chr1:179928600-179937800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:179928800-179937800	Weak transcription	Psoas Muscle	Psoas
31	chr1:179931400-179936600	Weak transcription	Fetal Stomach	stomach
32	chr1:179931600-179938000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:179931800-179937600	Weak transcription	Ovary	ovary
34	chr1:179933800-179937800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:179934000-179937800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:179934200-179936400	ZNF genes & repeats	Dnd41	blood
37	chr1:179934200-179937200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr1:179934200-179937600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:179934200-179937600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:179934400-179938000	Weak transcription	Adipose Nuclei	Adipose
41	chr1:179934600-179937800	Weak transcription	Brain Anterior Caudate	brain
42	chr1:179934600-179938000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:179934600-179938000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:179934600-179938200	Weak transcription	Osteobl	bone
45	chr1:179934600-179939200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:179934600-179945000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:179934800-179937600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:179935000-179936600	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr1:179935000-179936600	ZNF genes & repeats	GM12878-XiMat	blood
50	chr1:179935000-179938200	Weak transcription	Muscle Satellite Cultured Cells	--

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