Variant report

Variant	rs11164627
Chromosome Location	chr1:103345142-103345143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11164656	1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073619	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12074087	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079176	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12085141	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086094	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095952	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13374198	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13374615	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13374856	1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13375231	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57009972	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57183243	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57548736	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57843906	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58181035	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58451159	1.00[EUR][1000 genomes]
rs58882054	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59050890	1.00[EUR][1000 genomes]
rs59523110	1.00[EUR][1000 genomes]
rs59640131	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59806116	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60207059	1.00[EUR][1000 genomes]
rs60534143	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61120351	1.00[EUR][1000 genomes]
rs6702061	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs72996278	1.00[EUR][1000 genomes]
rs73000214	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7542495	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7542602	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7552698	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7552870	1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9988414	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830882	chr1:103192683-103355802	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv546928	chr1:103331349-103371652	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
4	nsv871829	chr1:103336601-103367095	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	nsv870600	chr1:103336601-103548497	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv871808	chr1:103339272-103367095	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
7	nsv870725	chr1:103339272-103371032	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
8	nsv870821	chr1:103339272-103379918	Active TSS ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv871809	chr1:103339272-103459537	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv871732	chr1:103339272-103466917	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv871475	chr1:103339272-103548497	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv546929	chr1:103342392-103371652	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
13	nsv462728	chr1:103342392-103455217	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv546930	chr1:103342392-103455217	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 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	chr1:103334000-103349800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:103335400-103350000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:103338400-103369400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:103338800-103357200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:103339200-103349800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:103340000-103345200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:103340800-103350000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:103341400-103349800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:103341600-103352000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:103342400-103349800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:103342600-103345200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:103342600-103345200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:103342800-103346000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:103343000-103345800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:103343400-103352000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:103343400-103355800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:103343400-103356200	Weak transcription	Fetal Heart	heart
18	chr1:103343400-103366000	Weak transcription	Fetal Brain Female	brain
19	chr1:103344400-103349800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:103344800-103345600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:103345000-103345200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:103345000-103345200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:103345000-103345200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr1:103345000-103345400	Flanking Active TSS	NH-A	brain
25	chr1:103345000-103345600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:103345000-103345600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:103345000-103345600	Flanking Active TSS	A549	lung
28	chr1:103345000-103345600	Enhancers	Hela-S3	cervix
29	chr1:103345000-103345600	Enhancers	HSMMtube	muscle
30	chr1:103345000-103345600	Flanking Active TSS	Osteobl	bone
31	chr1:103345000-103345800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:103345000-103345800	Enhancers	NHDF-Ad	bronchial
33	chr1:103345000-103346000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:103345000-103346000	Enhancers	HSMM	muscle
35	chr1:103345000-103346000	Enhancers	NHLF	lung
36	chr1:103345000-103346400	Enhancers	HMEC	breast
37	chr1:103345000-103348000	Enhancers	HUVEC	blood vessel

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