Variant report

Variant	rs12194998
Chromosome Location	chr6:163609154-163609155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10945872	1.00[ASN][1000 genomes]
rs12190413	1.00[AMR][1000 genomes]
rs12200768	1.00[ASN][1000 genomes]
rs12215573	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2146923	1.00[ASN][1000 genomes]
rs2874514	1.00[ASN][1000 genomes]
rs73025195	1.00[ASN][1000 genomes]
rs9365556	1.00[ASN][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	nsv917926	chr6:162646457-163609259	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	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
3	nsv1026490	chr6:163133433-163705708	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv869286	chr6:163146342-163697445	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2762628	chr6:163572148-163620903	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163600800-163611200	Enhancers	Brain Angular Gyrus	brain
2	chr6:163602600-163622600	Weak transcription	Right Ventricle	heart
3	chr6:163603000-163610800	Enhancers	Brain Substantia Nigra	brain
4	chr6:163603200-163612800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:163605000-163609600	Weak transcription	Adipose Nuclei	Adipose
6	chr6:163605800-163609800	Enhancers	Brain Anterior Caudate	brain
7	chr6:163606200-163612600	Enhancers	Brain Hippocampus Middle	brain
8	chr6:163606400-163610200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:163607400-163612400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:163607600-163612800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:163607600-163612800	Weak transcription	Brain Germinal Matrix	brain
12	chr6:163607800-163612600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:163607800-163612800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:163608000-163609600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:163608000-163632800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:163608400-163616400	Enhancers	Brain Cingulate Gyrus	brain
17	chr6:163608800-163610200	Enhancers	Fetal Heart	heart
18	chr6:163608800-163616200	Enhancers	Brain Inferior Temporal Lobe	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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