Variant report

Variant	rs73548939
Chromosome Location	chr13:80030723-80030724
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80025882..80028470-chr13:80030398..80033837,6	K562	blood:
2	chr13:80025824..80027487-chr13:80029929..80031898,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11838700	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838897	1.00[EUR][1000 genomes]
rs11839689	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11840407	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841482	1.00[EUR][1000 genomes]
rs11841756	1.00[ASN][1000 genomes]
rs11841968	1.00[EUR][1000 genomes]
rs11843203	1.00[EUR][1000 genomes]
rs11843917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11843939	1.00[EUR][1000 genomes]
rs1335372	1.00[ASN][1000 genomes]
rs17071492	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17071589	1.00[ASN][1000 genomes]
rs17071629	1.00[ASN][1000 genomes]
rs17431002	1.00[ASN][1000 genomes]
rs35724140	1.00[EUR][1000 genomes]
rs4884132	1.00[ASN][1000 genomes]
rs4885635	1.00[ASN][1000 genomes]
rs4885639	1.00[ASN][1000 genomes]
rs4885641	1.00[ASN][1000 genomes]
rs55820419	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56863569	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58069884	1.00[ASN][1000 genomes]
rs58233612	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58264675	1.00[ASN][1000 genomes]
rs59251364	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59319360	1.00[ASN][1000 genomes]
rs60016606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563111	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67435118	1.00[ASN][1000 genomes]
rs7139902	1.00[ASN][1000 genomes]
rs73235960	1.00[ASN][1000 genomes]
rs7325970	1.00[ASN][1000 genomes]
rs7337908	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7338662	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548905	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548932	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548936	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548952	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548962	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73551514	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73551516	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74098308	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74098315	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74098399	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7983312	1.00[ASN][1000 genomes]
rs7985220	1.00[ASN][1000 genomes]
rs7985239	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7985291	1.00[ASN][1000 genomes]
rs7991663	1.00[ASN][1000 genomes]
rs7992646	1.00[ASN][1000 genomes]
rs7994370	1.00[EUR][1000 genomes]
rs7995350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995717	1.00[ASN][1000 genomes]
rs7996153	1.00[EUR][1000 genomes]
rs8002638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530936	1.00[ASN][1000 genomes]
rs9545129	1.00[ASN][1000 genomes]
rs9545132	1.00[ASN][1000 genomes]
rs9545143	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80020600-80034000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:80026400-80031400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:80026400-80031600	Weak transcription	HUVEC	blood vessel
4	chr13:80026600-80032000	Weak transcription	K562	blood
5	chr13:80026800-80033600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:80027000-80031200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:80027000-80031800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:80027200-80032200	Weak transcription	Dnd41	blood
9	chr13:80027400-80032800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr13:80028000-80032000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr13:80029000-80032400	Enhancers	Osteobl	bone
12	chr13:80030200-80032000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr13:80030200-80033400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:80030400-80032000	Weak transcription	NH-A	brain
15	chr13:80030400-80033400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:80030400-80033800	Weak transcription	HSMM	muscle

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