Variant report

Variant	rs2972812
Chromosome Location	chr16:30687920-30687921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30687891-30688079	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:30683895..30686702-chr16:30687141..30689708,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-416P	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1530203	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919427	0.82[AFR][1000 genomes]
rs2972810	1.00[AMR][1000 genomes]
rs2972811	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57493067	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57568627	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565198	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905727	chr16:30564526-30689696	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
7	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
8	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
9	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
10	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
11	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30681400-30689200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:30681400-30689600	Weak transcription	Brain Angular Gyrus	brain
3	chr16:30681800-30688000	Weak transcription	HepG2	liver
4	chr16:30682000-30689400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:30682000-30689600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:30682200-30689000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:30682400-30688800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:30682400-30689200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr16:30682400-30689200	Weak transcription	Brain Anterior Caudate	brain
10	chr16:30682400-30689200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr16:30682400-30689200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr16:30682400-30690000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr16:30682600-30688800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:30682600-30688800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:30682600-30689200	Weak transcription	Brain Substantia Nigra	brain
16	chr16:30682600-30689200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr16:30682600-30689400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:30682600-30689800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr16:30682600-30689800	Weak transcription	Brain Hippocampus Middle	brain
20	chr16:30682600-30705200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr16:30683200-30689200	Weak transcription	Fetal Intestine Small	intestine
22	chr16:30683800-30690000	Weak transcription	Placenta	Placenta
23	chr16:30686800-30689400	Weak transcription	Hela-S3	cervix
24	chr16:30687000-30689200	Weak transcription	K562	blood

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