Variant report

Variant	rs28444116
Chromosome Location	chr1:168448116-168448117
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	chr1:168444486..168446892-chr1:168447378..168451317,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12094971	1.00[EUR][1000 genomes]
rs72703783	0.85[ASN][1000 genomes]
rs72703784	0.85[ASN][1000 genomes]

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	nsv1014626	chr1:168441288-168642731	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535196	chr1:168441288-168642731	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1011821	chr1:168441488-168642592	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv535197	chr1:168441488-168642592	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168435800-168451400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:168439200-168450200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:168439400-168451400	Weak transcription	Ovary	ovary
4	chr1:168440400-168451200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:168440400-168453000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:168444000-168449800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:168444000-168450200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:168444000-168451400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:168444200-168450400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:168444200-168450400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:168444200-168461000	Weak transcription	Liver	Liver
12	chr1:168445800-168448600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr1:168446000-168449000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:168446200-168448200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:168446200-168449800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:168446400-168450400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:168446600-168449800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:168446600-168450400	Weak transcription	Placenta	Placenta
19	chr1:168446600-168451000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:168446800-168450000	Weak transcription	Pancreas	Pancrea
21	chr1:168446800-168450000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:168446800-168450200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:168446800-168450400	Weak transcription	Spleen	Spleen
24	chr1:168446800-168451000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:168446800-168452000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:168447200-168448600	Weak transcription	Primary B cells from cord blood	blood
27	chr1:168447200-168449800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:168447200-168450200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:168447200-168451200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:168447200-168451400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:168447200-168452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:168447200-168453400	Weak transcription	Fetal Thymus	thymus
33	chr1:168447200-168453600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:168447400-168450000	Weak transcription	HepG2	liver
35	chr1:168447400-168451400	Weak transcription	HMEC	breast
36	chr1:168447400-168452200	Weak transcription	NHEK	skin
37	chr1:168447400-168452400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:168447600-168450000	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:168447600-168450600	Weak transcription	Primary T cells from cord blood	blood
40	chr1:168447800-168448800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:168447800-168450200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:168447800-168450200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr1:168447800-168450400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:168447800-168452400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:168447800-168452600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:168448000-168449800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:168448000-168450000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr1:168448000-168450400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr1:168448000-168452000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:168448000-168453000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links