Variant report

Variant	rs56654356
Chromosome Location	chr6:163753291-163753292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163751984..163754408-chr6:163756474..163759819,3	K562	blood:
2	chr6:163745590..163748829-chr6:163752310..163756417,4	MCF-7	breast:
3	chr6:163751446..163754906-chr6:163755143..163760328,4	K562	blood:
4	chr6:163753262..163755789-chr6:163835091..163838973,3	K562	blood:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10945892	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11759068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11964527	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12662804	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12663140	0.93[ASN][1000 genomes]
rs12664344	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12665161	0.88[ASN][1000 genomes]
rs3734284	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4709702	0.82[ASN][1000 genomes]
rs4709703	0.84[ASN][1000 genomes]
rs4709704	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4709705	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4709706	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4709707	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4709708	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4709709	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62428053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62428054	0.93[ASN][1000 genomes]
rs62430070	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62430071	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62430072	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62430073	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62430074	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs742331	0.82[ASN][1000 genomes]
rs882246	0.85[AMR][1000 genomes];0.90[EUR][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	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1022610	chr6:163591786-163814041	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv605188	chr6:163697439-163772096	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1803546	chr6:163749552-163757127	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163745200-163767000	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr6:163745600-163773600	Enhancers	Brain Substantia Nigra	brain
3	chr6:163745800-163754000	Enhancers	Brain Angular Gyrus	brain
4	chr6:163746400-163755200	Weak transcription	Psoas Muscle	Psoas
5	chr6:163746600-163753400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:163746600-163759400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:163746600-163759800	Enhancers	Brain Anterior Caudate	brain
8	chr6:163746600-163759800	Enhancers	Brain Hippocampus Middle	brain
9	chr6:163746600-163764400	Enhancers	Brain Cingulate Gyrus	brain
10	chr6:163746800-163754200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:163748600-163756600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:163750400-163753600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:163750800-163753400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:163751400-163755000	Weak transcription	Lung	lung
15	chr6:163751600-163755200	Weak transcription	Fetal Heart	heart
16	chr6:163751600-163755800	Weak transcription	HUVEC	blood vessel
17	chr6:163751600-163756600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:163751600-163756800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:163751600-163759200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:163751600-163759400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:163752400-163754600	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:163752400-163754800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:163752400-163756200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:163752600-163755200	Weak transcription	Right Atrium	heart
25	chr6:163752600-163758200	Enhancers	Adipose Nuclei	Adipose
26	chr6:163752800-163755000	Weak transcription	Placenta	Placenta
27	chr6:163752800-163756000	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:163753000-163753400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:163753200-163753600	Weak transcription	Left Ventricle	heart
30	chr6:163753200-163753800	Enhancers	Right Ventricle	heart
31	chr6:163753200-163755200	Weak transcription	Spleen	Spleen

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