Variant report

Variant	rs60821801
Chromosome Location	chr1:161275042-161275043
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161273354..161275189-chr1:161279747..161282095,2	MCF-7	breast:
2	chr1:161252880..161255836-chr1:161273696..161275808,2	MCF-7	breast:
3	chr1:161192625..161198260-chr1:161274899..161278564,8	K562	blood:

Variant related genes	Relation type
ENSG00000158887	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000158874	Chromatin interaction
ENSG00000263548	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16832814	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832845	0.82[AFR][1000 genomes]
rs4590682	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56718047	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59325217	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60878329	0.82[AFR][1000 genomes]
rs60928728	0.82[AFR][1000 genomes]
rs61157192	0.82[AFR][1000 genomes]
rs61271734	1.00[AMR][1000 genomes]
rs61458643	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61602668	1.00[AMR][1000 genomes]
rs73024038	0.82[AFR][1000 genomes]
rs73024061	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv517826	chr1:161263380-161277601	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161272600-161275200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr1:161273800-161276400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:161274000-161275200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:161274200-161275200	Enhancers	Colon Smooth Muscle	Colon
5	chr1:161274200-161275200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr1:161274200-161275400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:161274200-161275400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr1:161274200-161275400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr1:161274200-161276200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr1:161274200-161276200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:161274200-161276200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr1:161274400-161275200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:161274400-161275200	Enhancers	Small Intestine	intestine
14	chr1:161274400-161276200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:161274400-161276200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:161274400-161276200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:161274400-161276200	Active TSS	GM12878-XiMat	blood
18	chr1:161274400-161276400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:161274400-161276400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr1:161274600-161275200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:161274600-161275200	Enhancers	Esophagus	oesophagus
22	chr1:161274600-161275200	Enhancers	Placenta	Placenta
23	chr1:161274600-161275400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr1:161274600-161275600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr1:161274600-161275600	Flanking Active TSS	Fetal Brain Female	brain
26	chr1:161274600-161275600	Enhancers	Spleen	Spleen
27	chr1:161274800-161275200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:161274800-161275200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:161274800-161275200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:161274800-161275200	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr1:161274800-161275200	Enhancers	Fetal Muscle Trunk	muscle
32	chr1:161274800-161275200	Enhancers	Gastric	stomach
33	chr1:161274800-161275200	Enhancers	Pancreas	Pancrea
34	chr1:161274800-161275200	Enhancers	Stomach Mucosa	stomach
35	chr1:161274800-161275200	Flanking Active TSS	HMEC	breast
36	chr1:161274800-161275400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:161274800-161275400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr1:161274800-161275400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:161274800-161275400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr1:161274800-161275400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:161274800-161275400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:161274800-161275400	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr1:161274800-161275400	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr1:161274800-161275400	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr1:161274800-161275400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr1:161274800-161275400	Flanking Active TSS	Fetal Brain Male	brain
47	chr1:161274800-161275400	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr1:161274800-161275400	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr1:161274800-161275400	Flanking Active TSS	Osteobl	bone
50	chr1:161274800-161275600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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