Variant report

Variant	rs6939451
Chromosome Location	chr6:163751503-163751504
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163746176..163748803-chr6:163750592..163752123,2	K562	blood:
2	chr6:163750296..163752103-chr6:163834031..163836174,2	MCF-7	breast:
3	chr6:163751446..163754906-chr6:163755143..163760328,4	K562	blood:

Variant related genes	Relation type
ENSG00000270419	Chromatin interaction
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12201522	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12214900	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67757716	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6931253	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6931281	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9356107	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9356108	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9356109	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9458795	0.83[ASN][1000 genomes]
rs9458796	0.83[ASN][1000 genomes]
rs9458801	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3391848	chr6:163748791-163752416	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	esv1803546	chr6:163749552-163757127	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1829011	chr6:163750414-163751551	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163745000-163753200	Weak transcription	Right Ventricle	heart
2	chr6:163745200-163767000	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr6:163745600-163773600	Enhancers	Brain Substantia Nigra	brain
4	chr6:163745800-163754000	Enhancers	Brain Angular Gyrus	brain
5	chr6:163746400-163755200	Weak transcription	Psoas Muscle	Psoas
6	chr6:163746600-163753400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:163746600-163759400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:163746600-163759800	Enhancers	Brain Anterior Caudate	brain
9	chr6:163746600-163759800	Enhancers	Brain Hippocampus Middle	brain
10	chr6:163746600-163764400	Enhancers	Brain Cingulate Gyrus	brain
11	chr6:163746800-163754200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:163748600-163752400	Enhancers	Fetal Muscle Leg	muscle
13	chr6:163748600-163756600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:163749800-163751600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:163750400-163751800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:163750400-163753600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:163750600-163751800	Enhancers	Fetal Muscle Trunk	muscle
18	chr6:163750800-163751600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr6:163750800-163751600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:163750800-163751600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:163750800-163751600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr6:163750800-163751600	Enhancers	Adipose Nuclei	Adipose
23	chr6:163750800-163751600	Enhancers	Fetal Stomach	stomach
24	chr6:163750800-163751600	Enhancers	NH-A	brain
25	chr6:163750800-163753200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:163750800-163753400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr6:163751000-163751600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:163751000-163751600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:163751000-163751600	Enhancers	HUVEC	blood vessel
30	chr6:163751000-163751800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr6:163751000-163751800	Enhancers	Left Ventricle	heart
32	chr6:163751000-163752000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:163751000-163752600	Enhancers	Right Atrium	heart
34	chr6:163751000-163753200	Enhancers	Spleen	Spleen
35	chr6:163751200-163751600	Enhancers	Fetal Heart	heart
36	chr6:163751400-163751600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:163751400-163751600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr6:163751400-163752800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:163751400-163755000	Weak transcription	Lung	lung

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