Variant report

Variant	esv3394491
Chromosome Location	chr1:186295429-186297527
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	IRF1	chr1:186297313-186297316	K562	blood:	n/a	n/a
2	IRF1	chr1:186295916-186296000	K562	blood:	n/a	n/a
3	JUN	chr1:186296494-186296784	HepG2	liver:	n/a	chr1:186296649-186296662
4	JUND	chr1:186296467-186296822	HepG2	liver:	n/a	n/a
5	JUND	chr1:186296616-186296769	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:186294243-186295617	K562	blood:	n/a	n/a
7	POLR2A	chr1:186296564-186296667	ProgFib	skin:	n/a	n/a
8	STAT3	chr1:186295444-186295557	MCF10A-Er-Src	breast:	n/a	chr1:186295454-186295463
9	ZNF274	chr1:186296552-186297056	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:186293570..186295625-chr1:186311074..186313288,2	K562	blood:
2	chr1:186294236..186296887-chr1:186297423..186299785,2	K562	blood:
3	chr1:186297214..186300566-chr1:186305216..186308747,5	K562	blood:
4	chr1:186295688..186297629-chr1:186322768..186325332,2	MCF-7	breast:
5	chr1:186296941..186299348-chr1:186345485..186347021,2	K562	blood:

Variant related genes	Relation type
TPR	TF binding region
ENSG00000047410	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578022709	chr1:186295452-186295453	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs567247476	chr1:186295475-186295476	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs534755355	chr1:186295485-186295486	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs553064965	chr1:186295509-186295510	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs28715477	chr1:186295524-186295525	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189959495	chr1:186295563-186295564	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs558441908	chr1:186295580-186295581	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557422132	chr1:186295596-186295597	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs181414610	chr1:186295610-186295611	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs544074514	chr1:186295631-186295632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61810289	chr1:186295665-186295666	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185526974	chr1:186295702-186295703	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529107021	chr1:186295714-186295715	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549123042	chr1:186295721-186295722	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs189944990	chr1:186295798-186295799	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs180742356	chr1:186295814-186295815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111999332	chr1:186295871-186295872	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544842724	chr1:186295921-186295922	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs3766709	chr1:186295930-186295931	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs369355397	chr1:186295950-186295951	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs3766708	chr1:186295960-186295961	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576971197	chr1:186296046-186296047	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560878950	chr1:186296090-186296091	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528046726	chr1:186296116-186296117	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576982225	chr1:186296146-186296147	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185257746	chr1:186296147-186296148	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545895455	chr1:186296154-186296155	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559392165	chr1:186296175-186296176	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs71104851	chr1:186296181-186296182	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375109090	chr1:186296193-186296194	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs192416507	chr1:186296195-186296196	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12726205	chr1:186296202-186296203	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12746635	chr1:186296204-186296205	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113246606	chr1:186296206-186296207	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs12726213	chr1:186296212-186296213	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs12746641	chr1:186296214-186296215	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs183858973	chr1:186296216-186296217	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12726214	chr1:186296220-186296221	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs5023414	chr1:186296221-186296222	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542236785	chr1:186296231-186296232	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546739987	chr1:186296254-186296255	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs5779282	chr1:186296259-186296260	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368754753	chr1:186296266-186296267	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs5779284	chr1:186296277-186296278	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12726364	chr1:186296295-186296296	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs367704602	chr1:186296306-186296307	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191391817	chr1:186296324-186296325	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs71516961	chr1:186296325-186296326	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12726389	chr1:186296342-186296343	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs67342453	chr1:186296344-186296345	Weak transcription Strong transcription	Chromatin interactive region	1 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
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186272000-186306000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:186277600-186342600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:186277800-186297000	Strong transcription	Primary B cells from cord blood	blood
4	chr1:186278400-186342600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:186278800-186320400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:186279400-186295800	Strong transcription	A549	lung
7	chr1:186279400-186342400	Strong transcription	Fetal Thymus	thymus
8	chr1:186279600-186317600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:186279600-186342400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:186280000-186317600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:186280000-186320200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:186280000-186340400	Strong transcription	Dnd41	blood
13	chr1:186280000-186342000	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:186280000-186342400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:186280000-186342400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:186280000-186342400	Strong transcription	Osteobl	bone
17	chr1:186280000-186342600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:186280000-186342600	Strong transcription	HSMM	muscle
19	chr1:186280200-186295800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:186280200-186297200	Strong transcription	Stomach Smooth Muscle	stomach
21	chr1:186280200-186316800	Strong transcription	Placenta	Placenta
22	chr1:186280200-186342200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:186280400-186317600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:186280400-186317600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:186280400-186342400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr1:186280800-186342600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:186281000-186341800	Strong transcription	Liver	Liver
28	chr1:186281000-186342600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:186281200-186295800	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:186281200-186297400	Strong transcription	NHDF-Ad	bronchial
31	chr1:186281200-186297600	Strong transcription	Fetal Intestine Large	intestine
32	chr1:186281200-186317600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:186281200-186317800	Strong transcription	HUVEC	blood vessel
34	chr1:186281200-186338200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr1:186281200-186341400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr1:186281200-186341800	Strong transcription	Adipose Nuclei	Adipose
37	chr1:186281200-186342200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:186281200-186342200	Strong transcription	NH-A	brain
39	chr1:186281400-186295600	Strong transcription	Fetal Lung	lung
40	chr1:186281400-186297600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr1:186281400-186341600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:186281400-186342000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:186281400-186342000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:186281400-186342000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr1:186281400-186342200	Strong transcription	Hela-S3	cervix
46	chr1:186281400-186342400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:186281400-186342600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:186281600-186297200	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr1:186281800-186335600	Strong transcription	HMEC	breast
50	chr1:186281800-186342200	Strong transcription	K562	blood

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