Variant report

Variant	rs41274792
Chromosome Location	chr1:220236544-220236545
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220235246..220237284-chr17:58155320..58156912,2	MCF-7	breast:
2	chr1:220236160..220238551-chr1:220252332..220254009,2	K562	blood:
3	chr1:220161264..220163445-chr1:220234115..220237098,2	K562	blood:

Variant related genes	Relation type
ENSG00000068097	Chromatin interaction
ENSG00000267416	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1039206	0.89[ASN][1000 genomes]
rs1124763	0.89[ASN][1000 genomes]
rs17007107	0.92[ASN][1000 genomes]
rs17007139	0.86[ASN][1000 genomes]
rs34406824	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3820455	0.86[ASN][1000 genomes]
rs57463200	0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58256586	0.92[ASN][1000 genomes]
rs58966246	0.87[ASN][1000 genomes]
rs73096563	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73096575	0.98[ASN][1000 genomes]
rs73096577	0.98[ASN][1000 genomes]
rs73096595	0.89[ASN][1000 genomes]
rs73098512	0.86[ASN][1000 genomes]
rs73098518	0.86[ASN][1000 genomes]
rs73098527	0.86[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	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
3	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases
4	nsv549222	chr1:220226732-220246392	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220220400-220238400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:220220400-220240800	Weak transcription	NHDF-Ad	bronchial
3	chr1:220220400-220243600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:220220400-220257600	Weak transcription	Stomach Mucosa	stomach
5	chr1:220220600-220237400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:220220600-220237600	Weak transcription	Right Ventricle	heart
7	chr1:220220600-220245800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:220220600-220262400	Weak transcription	Pancreas	Pancrea
9	chr1:220220600-220262400	Weak transcription	NHLF	lung
10	chr1:220220800-220237600	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:220220800-220237600	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:220220800-220238400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:220220800-220238600	Weak transcription	Brain Substantia Nigra	brain
14	chr1:220220800-220261600	Weak transcription	Fetal Brain Male	brain
15	chr1:220221000-220237800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:220224000-220240800	Weak transcription	A549	lung
17	chr1:220225800-220245800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:220226800-220240400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:220227400-220245600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:220227600-220240000	Weak transcription	Fetal Kidney	kidney
21	chr1:220227800-220245800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:220228200-220240000	Weak transcription	Psoas Muscle	Psoas
23	chr1:220228400-220238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:220229800-220245000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:220230000-220240600	Weak transcription	HMEC	breast
26	chr1:220230000-220245800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:220230600-220236600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:220230600-220239400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:220230800-220242600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:220231000-220247600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:220231200-220241200	Strong transcription	Placenta	Placenta
32	chr1:220231200-220241400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr1:220231200-220243200	Strong transcription	Fetal Intestine Large	intestine
34	chr1:220231200-220247800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:220231200-220248600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:220231400-220243200	Strong transcription	Adipose Nuclei	Adipose
37	chr1:220231800-220243000	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr1:220232200-220240800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:220232200-220241600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:220232400-220237800	Weak transcription	Brain Germinal Matrix	brain
41	chr1:220232400-220237800	Weak transcription	Spleen	Spleen
42	chr1:220232400-220247000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:220232400-220250000	Weak transcription	Small Intestine	intestine
44	chr1:220232800-220237800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:220233000-220237800	Weak transcription	Colonic Mucosa	Colon
46	chr1:220233000-220240800	Weak transcription	Hela-S3	cervix
47	chr1:220233200-220237200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:220233200-220237400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:220233200-220238600	Weak transcription	NH-A	brain
50	chr1:220233200-220240000	Weak transcription	HepG2	liver

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