Variant report

Variant	rs7246912
Chromosome Location	chr19:39021906-39021907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs12973045	0.98[ASN][1000 genomes]
rs12981340	0.96[ASN][1000 genomes]
rs2071088	0.85[TSI][hapmap]
rs2071090	1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2960318	0.98[ASN][1000 genomes]
rs2960321	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2960351	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs60909679	0.83[AFR][1000 genomes]
rs6508806	0.99[ASN][1000 genomes]
rs7250800	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73032625	0.93[AFR][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	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv833824	chr19:38914618-39084758	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv1816081	chr19:38919971-39050479	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv911664	chr19:38924814-39048163	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv911665	chr19:38924814-39101879	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7246912	DYRK1B	cis	parietal	SCAN
rs7246912	SAMD4B	cis	cerebellum	SCAN
rs7246912	NOVA2	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38960800-39034400	Strong transcription	Skeletal Muscle Female	skeletal muscle
2	chr19:38963000-39033000	Strong transcription	Skeletal Muscle Male	skeletal muscle
3	chr19:38985200-39081800	Weak transcription	Psoas Muscle	Psoas
4	chr19:38997600-39025400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:38998600-39025000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr19:39001000-39025600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:39005800-39025200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:39006200-39025400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:39006800-39025600	Weak transcription	Brain Substantia Nigra	brain
10	chr19:39007000-39025600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr19:39007600-39025000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:39007600-39025200	Weak transcription	Brain Hippocampus Middle	brain
13	chr19:39007800-39025400	Weak transcription	Brain Anterior Caudate	brain
14	chr19:39008600-39025200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:39014200-39022000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:39019400-39025000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:39019400-39025600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:39019800-39025400	Strong transcription	Fetal Muscle Leg	muscle
19	chr19:39019800-39029000	Weak transcription	Fetal Brain Male	brain
20	chr19:39020600-39027800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr19:39021000-39029200	Strong transcription	HSMMtube	muscle
22	chr19:39021400-39023200	Weak transcription	Brain Germinal Matrix	brain
23	chr19:39021400-39025200	Weak transcription	Adipose Nuclei	Adipose
24	chr19:39021800-39022600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:39021800-39022600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr19:39021800-39023800	Strong transcription	H1 Cell Line	embryonic stem cell

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