Variant report

Variant	rs7984451
Chromosome Location	chr13:30714024-30714025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30710616..30714136-chr13:30716937..30719066,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs4769028	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4769808	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4769810	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs531266	0.80[EUR][1000 genomes]
rs533910	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs533937	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs549744	0.86[EUR][1000 genomes]
rs584999	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs585049	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs641545	0.85[CEU][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs66587785	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7334284	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7334437	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8000970	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9506264	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9506265	0.82[EUR][1000 genomes]
rs9506266	0.82[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9508639	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9508641	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9508642	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9508643	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9508644	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9508646	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[GIH][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9508647	0.82[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv981	chr13:30703159-30739838	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1847946	chr13:30707385-30731192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30700200-30717200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:30707400-30714400	Weak transcription	Spleen	Spleen
3	chr13:30707400-30714400	Weak transcription	GM12878-XiMat	blood
4	chr13:30707800-30715200	Weak transcription	Dnd41	blood
5	chr13:30708000-30714400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr13:30708800-30715600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr13:30708800-30716800	Weak transcription	Brain Anterior Caudate	brain
8	chr13:30709400-30715600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr13:30709600-30714600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr13:30709600-30715200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:30712600-30715800	Weak transcription	NHDF-Ad	bronchial
12	chr13:30712600-30716000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr13:30712600-30717000	Weak transcription	Brain Angular Gyrus	brain
14	chr13:30712800-30714400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:30712800-30715800	Weak transcription	Adipose Nuclei	Adipose
16	chr13:30712800-30715800	Weak transcription	Placenta	Placenta
17	chr13:30712800-30716600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:30712800-30716600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:30712800-30716600	Weak transcription	Fetal Lung	lung
20	chr13:30712800-30716800	Weak transcription	Lung	lung
21	chr13:30713000-30714200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:30713000-30715400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr13:30713000-30716000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:30713000-30716000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:30713000-30716000	Weak transcription	Hela-S3	cervix
26	chr13:30713000-30716000	Weak transcription	HUVEC	blood vessel
27	chr13:30713000-30716200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:30713000-30716600	Weak transcription	A549	lung
29	chr13:30713400-30715200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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