Variant report

Variant	rs191280011
Chromosome Location	chr1:193235756-193235757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193074302..193075986-chr1:193233288..193236192,2	MCF-7	breast:
2	chr1:193224128..193229366-chr1:193231563..193237735,7	K562	blood:

Variant related genes	Relation type
ENSG00000023572	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1007444	chr1:193207512-193237789	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1002564	chr1:193208937-193240380	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv3436652	chr1:193234354-193236902	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3377374	chr1:193234704-193236677	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2428735	chr1:193234997-193236404	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3436667	chr1:193235229-193236177	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2270512	chr1:193235249-193235837	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv5959	chr1:193235289-193235800	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3321006	chr1:193235294-193235756	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3500860	chr1:193235320-193235762	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:193216400-193238800	Weak transcription	Hela-S3	cervix
4	chr1:193217000-193244600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:193217200-193240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:193218000-193239400	Weak transcription	Esophagus	oesophagus
7	chr1:193218200-193236800	Weak transcription	A549	lung
8	chr1:193218400-193239200	Weak transcription	Osteobl	bone
9	chr1:193218400-193239400	Weak transcription	Left Ventricle	heart
10	chr1:193218600-193237600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:193218600-193258200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:193218800-193238800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:193219000-193236400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:193220400-193237200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:193220600-193239400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:193222400-193253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:193227800-193237000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:193228200-193235800	Weak transcription	Fetal Kidney	kidney
19	chr1:193228200-193236200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:193228200-193236800	Weak transcription	Fetal Thymus	thymus
21	chr1:193228400-193236600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:193228400-193237000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:193228400-193239200	Weak transcription	Aorta	Aorta
24	chr1:193228400-193239400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:193228400-193243600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:193228400-193244600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:193229000-193254800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:193229600-193239200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:193229600-193240800	Weak transcription	Gastric	stomach
30	chr1:193230000-193236800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:193231200-193236800	Weak transcription	Fetal Lung	lung
32	chr1:193231600-193251200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:193232000-193237200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:193232000-193249400	Weak transcription	Fetal Heart	heart
35	chr1:193232200-193238800	Weak transcription	Primary B cells from cord blood	blood
36	chr1:193232200-193239400	Weak transcription	HSMMtube	muscle
37	chr1:193232200-193239600	Weak transcription	NHLF	lung
38	chr1:193232600-193244600	Weak transcription	Primary T cells from cord blood	blood
39	chr1:193234000-193235800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:193234000-193237400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:193234000-193239400	Weak transcription	NH-A	brain
42	chr1:193234000-193239800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:193235200-193240200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:193235400-193237000	Weak transcription	Adipose Nuclei	Adipose
45	chr1:193235400-193237600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:193235400-193239400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:193235400-193240200	Weak transcription	GM12878-XiMat	blood
48	chr1:193235400-193242200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:193235400-193243000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:193235400-193252000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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