Variant report

Variant	rs12664344
Chromosome Location	chr6:163751611-163751612
allele	A/T
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
ENSG00000112531	Chromatin interaction
ENSG00000270419	Chromatin interaction

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

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

rs_ID	r²[population]
rs10945892	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11759068	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11964527	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12662804	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12663140	0.88[ASN][1000 genomes]
rs12665161	0.92[ASN][1000 genomes]
rs3734284	0.80[EUR][1000 genomes]
rs4709702	0.86[ASN][1000 genomes]
rs4709703	0.88[ASN][1000 genomes]
rs4709704	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4709705	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4709706	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4709707	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4709708	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4709709	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56654356	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62428053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62428054	0.98[ASN][1000 genomes]
rs62430070	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62430071	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62430072	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62430073	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62430074	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs882246	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:32 , 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	chr6:163750400-163751800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:163750400-163753600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:163750600-163751800	Enhancers	Fetal Muscle Trunk	muscle
17	chr6:163750800-163753200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:163750800-163753400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr6:163751000-163751800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:163751000-163751800	Enhancers	Left Ventricle	heart
21	chr6:163751000-163752000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:163751000-163752600	Enhancers	Right Atrium	heart
23	chr6:163751000-163753200	Enhancers	Spleen	Spleen
24	chr6:163751400-163752800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:163751400-163755000	Weak transcription	Lung	lung
26	chr6:163751600-163752600	Weak transcription	Adipose Nuclei	Adipose
27	chr6:163751600-163755200	Weak transcription	Fetal Heart	heart
28	chr6:163751600-163755800	Weak transcription	HUVEC	blood vessel
29	chr6:163751600-163756600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:163751600-163756800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:163751600-163759200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:163751600-163759400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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