Variant report

Variant	rs17127100
Chromosome Location	chr12:39783347-39783348
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39774786..39777930-chr12:39781565..39783444,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1512941	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512943	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17126997	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17127029	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127070	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127094	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127129	0.83[ASN][1000 genomes]
rs17127138	0.83[ASN][1000 genomes]
rs2137495	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2271478	0.83[ASN][1000 genomes]
rs2292491	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4620763	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57196300	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58891998	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59967849	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61039034	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7135918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307730	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7308138	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73086885	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088816	0.83[ASN][1000 genomes]
rs7956823	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7966841	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970819	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970944	0.83[ASN][1000 genomes]
rs7976275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978854	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980595	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs963637	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832375	chr12:39599362-39784722	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39757000-39784600	Weak transcription	Brain Germinal Matrix	brain
2	chr12:39761800-39806000	Weak transcription	Hela-S3	cervix
3	chr12:39767400-39784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:39767600-39791400	Weak transcription	GM12878-XiMat	blood
5	chr12:39767800-39784800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:39776600-39783800	Weak transcription	HMEC	breast
7	chr12:39778800-39786000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:39778800-39787200	Weak transcription	Right Ventricle	heart
9	chr12:39779000-39786000	Weak transcription	Left Ventricle	heart
10	chr12:39779200-39786200	Weak transcription	Psoas Muscle	Psoas
11	chr12:39780200-39787400	Weak transcription	Liver	Liver
12	chr12:39780400-39789800	Weak transcription	HepG2	liver
13	chr12:39781200-39791400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:39781400-39800200	Weak transcription	Brain Angular Gyrus	brain
15	chr12:39781600-39785800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:39781600-39785800	Weak transcription	Brain Substantia Nigra	brain
17	chr12:39781600-39786200	Weak transcription	Right Atrium	heart
18	chr12:39781600-39786400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:39781800-39787000	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:39782000-39786000	Weak transcription	Brain Anterior Caudate	brain
21	chr12:39782200-39796800	Weak transcription	A549	lung
22	chr12:39782400-39783600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:39782400-39783600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:39782400-39784600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:39782400-39785000	Weak transcription	Fetal Heart	heart
26	chr12:39782400-39785400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:39782400-39785800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:39782600-39786000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:39783000-39783600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:39783000-39784600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr12:39783200-39784800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr12:39783200-39784800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:39783200-39785000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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