Variant report

Variant	rs7539730
Chromosome Location	chr1:241696710-241696711
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241696697..241699128-chr1:242009298..242010956,2	MCF-7	breast:
2	chr1:241692902..241697485-chr1:242010276..242014432,6	K562	blood:
3	chr1:241693547..241697485-chr1:242010276..242012986,4	K562	blood:

Variant related genes	Relation type
ENSG00000174371	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10802969	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10926505	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10926508	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10926510	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12064150	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076255	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079341	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16841808	0.87[EUR][1000 genomes]
rs3765802	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765804	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3819976	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4659609	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660101	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56957678	0.87[EUR][1000 genomes]
rs58766151	0.87[EUR][1000 genomes]
rs61543265	0.87[EUR][1000 genomes]
rs6429277	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6429278	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66482665	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66497254	0.87[EUR][1000 genomes]
rs66669018	0.87[EUR][1000 genomes]
rs66710178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6678986	0.87[EUR][1000 genomes]
rs6679186	0.87[EUR][1000 genomes]
rs6681649	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684064	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687609	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6690411	0.87[EUR][1000 genomes]
rs6698519	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67267325	0.87[EUR][1000 genomes]
rs67439618	0.87[EUR][1000 genomes]
rs68147305	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72766004	0.87[EUR][1000 genomes]
rs73137530	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv949442	chr1:241432051-241730054	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv549460	chr1:241494578-241833287	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1009579	chr1:241499537-241824631	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv530112	chr1:241522031-241840269	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv873371	chr1:241667244-241747838	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241694600-241697000	Active TSS	Duodenum Mucosa	Duodenum
2	chr1:241694600-241697200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr1:241694800-241697000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:241694800-241697400	Active TSS	Fetal Kidney	kidney
5	chr1:241694800-241697600	Active TSS	Placenta	Placenta
6	chr1:241695600-241700000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:241695800-241696800	Weak transcription	K562	blood
8	chr1:241695800-241697000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:241695800-241697000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:241695800-241697000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:241695800-241697000	Weak transcription	NHEK	skin
12	chr1:241695800-241697400	Enhancers	HMEC	breast
13	chr1:241695800-241698800	Weak transcription	Psoas Muscle	Psoas
14	chr1:241695800-241699000	Weak transcription	Fetal Lung	lung
15	chr1:241696000-241697800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:241696200-241697600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:241696200-241697600	Flanking Active TSS	GM12878-XiMat	blood
18	chr1:241696200-241697800	Flanking Active TSS	Liver	Liver
19	chr1:241696400-241697400	Enhancers	Primary hematopoietic stem cells	blood
20	chr1:241696400-241697400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:241696400-241697800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr1:241696400-241698800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:241696600-241696800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:241696600-241696800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr1:241696600-241696800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr1:241696600-241697200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:241696600-241697400	Flanking Active TSS	Primary B cells from peripheral blood	blood

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