Variant report

Variant	rs7512439
Chromosome Location	chr1:247093593-247093594
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247092592..247095168-chr1:247240880..247243272,2	K562	blood:
2	chr1:247046300..247048217-chr1:247091357..247094558,3	K562	blood:
3	chr1:247092059..247094068-chr1:247274280..247275871,2	K562	blood:
4	chr1:247056860..247058918-chr1:247092602..247094534,2	MCF-7	breast:
5	chr1:247092987..247095907-chr22:39713891..39716269,2	K562	blood:
6	chr1:247093046..247095250-chr1:247265472..247268873,4	MCF-7	breast:
7	chr1:247092146..247096759-chr1:247274350..247278356,6	MCF-7	breast:
8	chr1:247093552..247097819-chr1:247240197..247243590,5	MCF-7	breast:
9	chr1:247092220..247095330-chr1:247240373..247243272,3	K562	blood:
10	chr1:247092719..247096472-chr1:247266171..247268660,3	MCF-7	breast:
11	chr1:246871057..246874045-chr1:247092351..247094206,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188295	Chromatin interaction
ENSG00000135747	Chromatin interaction
ENSG00000100316	Chromatin interaction
ENSG00000263764	Chromatin interaction
ENSG00000221953	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10924871	0.88[AFR][1000 genomes]
rs10924877	1.00[AMR][1000 genomes]
rs10924878	1.00[AMR][1000 genomes]
rs12059361	1.00[AMR][1000 genomes]
rs12061420	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12065654	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12096743	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2067915	0.88[AFR][1000 genomes]
rs6659764	0.92[AFR][1000 genomes]
rs6686324	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73144222	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73146640	0.96[AFR][1000 genomes]
rs73146692	1.00[AMR][1000 genomes]
rs73148614	1.00[AMR][1000 genomes]
rs7516596	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7537256	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7550911	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9729188	0.96[AFR][1000 genomes];1.00[AMR][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	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1000602	chr1:247044627-247226568	Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv873425	chr1:247069514-247156066	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv873426	chr1:247069514-247162628	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	esv3438502	chr1:247093554-247096502	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247069800-247093800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:247070000-247093600	Weak transcription	Aorta	Aorta
3	chr1:247078400-247093600	Weak transcription	Fetal Kidney	kidney
4	chr1:247087400-247093600	Weak transcription	Brain Angular Gyrus	brain
5	chr1:247089400-247093600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:247089600-247093800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:247092800-247093600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:247092800-247093600	Enhancers	Fetal Heart	heart
9	chr1:247092800-247093800	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr1:247092800-247094000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr1:247092800-247094000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:247092800-247095800	Active TSS	A549	lung
13	chr1:247093000-247093600	Enhancers	Fetal Brain Male	brain
14	chr1:247093000-247093600	Active TSS	K562	blood
15	chr1:247093000-247093800	Enhancers	Small Intestine	intestine
16	chr1:247093000-247095800	Active TSS	HSMM	muscle
17	chr1:247093000-247096200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:247093000-247096200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:247093000-247096200	Active TSS	GM12878-XiMat	blood
20	chr1:247093200-247093600	Transcr. at gene 5' and 3'	HMEC	breast
21	chr1:247093200-247094400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr1:247093200-247094400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr1:247093200-247095800	Active TSS	Ovary	ovary
24	chr1:247093400-247093600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:247093400-247093600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:247093400-247093600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:247093400-247093600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:247093400-247093600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:247093400-247093600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:247093400-247093600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr1:247093400-247093600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:247093400-247093600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:247093400-247093600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:247093400-247093600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:247093400-247093600	Enhancers	Liver	Liver
36	chr1:247093400-247093600	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:247093400-247093600	Flanking Active TSS	Colonic Mucosa	Colon
38	chr1:247093400-247093600	Enhancers	Esophagus	oesophagus
39	chr1:247093400-247093600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr1:247093400-247093600	Flanking Active TSS	Fetal Brain Female	brain
41	chr1:247093400-247093600	Enhancers	Fetal Intestine Large	intestine
42	chr1:247093400-247093600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
43	chr1:247093400-247093600	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr1:247093400-247093600	Enhancers	Fetal Muscle Leg	muscle
45	chr1:247093400-247093600	Enhancers	Fetal Thymus	thymus
46	chr1:247093400-247093600	Flanking Active TSS	Psoas Muscle	Psoas
47	chr1:247093400-247093600	Flanking Active TSS	Right Atrium	heart
48	chr1:247093400-247093600	Flanking Active TSS	HepG2	liver
49	chr1:247093400-247093600	Flanking Active TSS	NHDF-Ad	bronchial
50	chr1:247093400-247093600	Transcr. at gene 5' and 3'	NHEK	skin

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