Variant report

Variant	rs12538669
Chromosome Location	chr7:121120509-121120510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121115674..121117973-chr7:121118973..121121252,2	K562	blood:
2	chr7:121119950..121122804-chr7:121124054..121125979,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12539623	0.93[AFR][1000 genomes]
rs59345057	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59465771	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717345	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717357	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717359	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717360	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717361	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717362	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7803325	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7809121	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1029156	chr7:121069455-121143942	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv539104	chr7:121069455-121143942	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121118800-121121400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:121119200-121121600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr7:121119200-121121800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:121119400-121120600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:121119400-121120600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:121119400-121121400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:121119400-121121800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:121119600-121121200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:121119600-121122200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:121119600-121123400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:121119800-121121200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:121119800-121121400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:121119800-121122200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:121120000-121120600	Enhancers	Fetal Brain Male	brain
15	chr7:121120000-121121200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:121120000-121122000	Enhancers	Brain Germinal Matrix	brain
17	chr7:121120200-121120600	Enhancers	Brain Anterior Caudate	brain
18	chr7:121120200-121120800	Enhancers	Fetal Stomach	stomach
19	chr7:121120200-121120800	Enhancers	HMEC	breast
20	chr7:121120200-121120800	Enhancers	NH-A	brain
21	chr7:121120200-121121000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:121120200-121121000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:121120200-121121000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:121120200-121121200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:121120200-121121200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:121120200-121121200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:121120200-121121200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr7:121120200-121121200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr7:121120200-121121400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr7:121120200-121121400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:121120200-121121400	Enhancers	Colon Smooth Muscle	Colon
32	chr7:121120200-121121400	Enhancers	NHEK	skin
33	chr7:121120200-121121600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr7:121120400-121120600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:121120400-121120600	Enhancers	Brain Hippocampus Middle	brain
36	chr7:121120400-121121200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:121120400-121121200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:121120400-121121200	Enhancers	Rectal Smooth Muscle	rectum
39	chr7:121120400-121121400	Enhancers	Brain Cingulate Gyrus	brain
40	chr7:121120400-121121800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:121120400-121125800	Weak transcription	Fetal Brain Female	brain

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