Variant report

Variant	rs1218593
Chromosome Location	chr1:154925989-154925990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154529336..154531391-chr1:154925736..154927605,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PYGO2-2	chr1:154924113-154927297	NONHSAT006649

Variant related genes	Relation type
ENSG00000160714	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1218558	1.00[CEU][hapmap]
rs1218562	1.00[CEU][hapmap]
rs1218586	1.00[CEU][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap]
rs1630500	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv872453	chr1:154904840-154995503	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154910600-154927200	Weak transcription	Fetal Kidney	kidney
2	chr1:154910800-154927200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:154910800-154927200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:154911800-154927400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:154911800-154927400	Weak transcription	NHEK	skin
6	chr1:154913000-154927600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:154913200-154927400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:154913400-154927000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:154914000-154927400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:154914200-154927400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:154915200-154927400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:154916800-154927200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:154917200-154927200	Weak transcription	Hela-S3	cervix
14	chr1:154918600-154927800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:154919000-154926600	Weak transcription	Fetal Brain Female	brain
16	chr1:154919800-154927200	Weak transcription	NH-A	brain
17	chr1:154920800-154927200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:154923000-154926800	Genic enhancers	Primary B cells from peripheral blood	blood
19	chr1:154923200-154926200	Genic enhancers	Fetal Thymus	thymus
20	chr1:154923400-154926600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
21	chr1:154923600-154926800	Enhancers	Ovary	ovary
22	chr1:154923600-154927200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:154923800-154926200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:154923800-154926400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:154923800-154926400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:154923800-154926400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:154923800-154927200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:154923800-154927200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:154923800-154927200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:154923800-154927400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:154923800-154927400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
32	chr1:154924000-154926200	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr1:154924000-154926400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:154924000-154926400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:154924000-154927200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:154924000-154927400	Weak transcription	Aorta	Aorta
37	chr1:154924200-154926200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:154924200-154926600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:154924200-154926600	Enhancers	Adipose Nuclei	Adipose
40	chr1:154924200-154927200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:154924200-154927600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:154924200-154927600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:154924200-154927600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:154924200-154927600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr1:154924200-154928200	Enhancers	Esophagus	oesophagus
46	chr1:154924200-154929200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr1:154924400-154926000	Enhancers	K562	blood
48	chr1:154924400-154926200	Transcr. at gene 5' and 3'	Thymus	Thymus
49	chr1:154924400-154926400	Enhancers	Colon Smooth Muscle	Colon
50	chr1:154924400-154926600	Genic enhancers	Fetal Intestine Small	intestine

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