Variant report

Variant	rs10799411
Chromosome Location	chr1:227472645-227472646
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227472187..227474714-chr1:227565582..227567693,2	K562	blood:
2	chr1:227468377..227470578-chr1:227471178..227474571,3	K562	blood:
3	chr1:227472633..227474570-chr1:227477067..227478764,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10916110	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10916117	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033050	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12035190	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12035998	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12038272	0.83[ASN][1000 genomes]
rs12073573	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12079122	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12079173	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12080452	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12095674	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4065211	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61700597	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61834325	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834563	0.83[EUR][1000 genomes]
rs61834564	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6660043	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699534	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72757311	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7513122	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3453491	chr1:227462942-227482283	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3453492	chr1:227462956-227482280	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227431600-227486200	Weak transcription	NHDF-Ad	bronchial
2	chr1:227443400-227474000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:227447200-227473600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:227449600-227473600	Weak transcription	NH-A	brain
5	chr1:227462600-227473600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:227462600-227500200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:227463000-227473000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:227464400-227472800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:227464400-227472800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:227466200-227473200	Weak transcription	A549	lung
11	chr1:227467200-227485800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:227469000-227473000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:227469200-227473200	Weak transcription	HUVEC	blood vessel
14	chr1:227469200-227473600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:227469200-227477600	Weak transcription	Psoas Muscle	Psoas
16	chr1:227469200-227500200	Weak transcription	Left Ventricle	heart
17	chr1:227469200-227502600	Weak transcription	HSMM	muscle
18	chr1:227469400-227473200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:227469400-227477000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:227469600-227473000	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:227469600-227473200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:227469600-227473400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:227469600-227473600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:227469600-227473600	Weak transcription	Aorta	Aorta
25	chr1:227469600-227501800	Weak transcription	Fetal Stomach	stomach
26	chr1:227470600-227473200	Weak transcription	Fetal Lung	lung
27	chr1:227470600-227483000	Weak transcription	Stomach Mucosa	stomach
28	chr1:227470600-227485800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:227472000-227474200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr1:227472200-227474600	ZNF genes & repeats	K562	blood
31	chr1:227472200-227476400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:227472400-227476200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr1:227472600-227472800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:227472600-227473000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:227472600-227474400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:227472600-227474400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:227472600-227475800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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