Variant report

Variant	rs3767657
Chromosome Location	chr1:220198127-220198128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220191199..220193834-chr1:220197562..220200114,2	K562	blood:
2	chr1:220196455..220198448-chr1:220208352..220209875,2	K562	blood:
3	chr1:220179969..220181763-chr1:220195633..220198594,2	K562	blood:

Variant related genes	Relation type
ENSG00000136628	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2270711	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4846612	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72745184	0.87[ASN][1000 genomes]
rs72747320	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72747321	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220164800-220200200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:220165800-220200200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:220166000-220198800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:220166200-220199200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:220166200-220200200	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr1:220166200-220208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:220166200-220209000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:220166400-220199800	Strong transcription	K562	blood
9	chr1:220166400-220200200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:220166400-220206800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:220166400-220210600	Strong transcription	Duodenum Mucosa	Duodenum
12	chr1:220166600-220200400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr1:220166800-220199000	Strong transcription	Dnd41	blood
14	chr1:220166800-220208400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:220167200-220200200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:220167800-220211800	Weak transcription	Stomach Mucosa	stomach
17	chr1:220168400-220213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:220169200-220206400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:220172600-220218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:220174400-220198600	Strong transcription	Primary T cells from cord blood	blood
22	chr1:220176000-220208000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:220176400-220208400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:220176600-220200200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:220177600-220205800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:220178000-220217800	Weak transcription	Pancreas	Pancrea
27	chr1:220178200-220218600	Weak transcription	Right Ventricle	heart
28	chr1:220181400-220198600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:220185800-220200200	Strong transcription	Fetal Thymus	thymus
30	chr1:220186000-220198200	Strong transcription	Fetal Intestine Large	intestine
31	chr1:220186200-220200200	Strong transcription	HSMM	muscle
32	chr1:220186400-220198600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:220186600-220198600	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:220186600-220200000	Strong transcription	Adipose Nuclei	Adipose
35	chr1:220186600-220207800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:220186800-220198200	Strong transcription	Left Ventricle	heart
37	chr1:220186800-220198400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr1:220186800-220199800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:220186800-220200200	Strong transcription	Placenta	Placenta
40	chr1:220187200-220198200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:220187200-220198600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:220187200-220216800	Weak transcription	Fetal Heart	heart
43	chr1:220187400-220200400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:220187400-220216800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:220188200-220200000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:220189200-220208000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:220189600-220208400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:220190000-220199200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:220190600-220198800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:220190800-220198200	Strong transcription	Colon Smooth Muscle	Colon

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