Variant report

Variant	rs36029922
Chromosome Location	chr19:56878993-56878994
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	NRF1	chr19:56878841-56880268	SK-N-SH	brain:	n/a	chr19:56879429-56879440 chr19:56879430-56879444 chr19:56879430-56879441 chr19:56879427-56879441 chr19:56879430-56879439
2	REST	chr19:56878877-56880429	H1-neurons	neurons:	n/a	chr19:56879371-56879391

No.	Distal block	Cell Line	Cell type
1	chr19:56878151..56881655-chr19:56903333..56906269,7	K562	blood:
2	chr19:56874655..56877497-chr19:56878126..56879780,2	K562	blood:
3	chr19:56878056..56881655-chr19:56903333..56906269,5	K562	blood:

Variant related genes	Relation type
ZNF542	TF binding region
ENSG00000267606	TF binding region
ENSG00000018869	Chromatin interaction
ENSG00000267606	Chromatin interaction
ENSG00000267454	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12972381	0.82[EUR][1000 genomes]
rs34838744	0.86[AMR][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	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
2	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56872200-56879400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:56873800-56879000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr19:56873800-56879200	Weak transcription	Left Ventricle	heart
4	chr19:56876400-56879000	Weak transcription	Brain Hippocampus Middle	brain
5	chr19:56876600-56879000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:56876800-56879000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:56877200-56879000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr19:56877400-56879200	Weak transcription	Ovary	ovary
9	chr19:56877600-56879000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr19:56878400-56879000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:56878800-56879000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr19:56878800-56879000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:56878800-56879000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr19:56878800-56879000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:56878800-56879000	Enhancers	Brain Substantia Nigra	brain
16	chr19:56878800-56879000	Weak transcription	Fetal Heart	heart
17	chr19:56878800-56879000	Enhancers	K562	blood
18	chr19:56878800-56879200	Active TSS	Liver	Liver
19	chr19:56878800-56879200	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr19:56878800-56879600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:56878800-56880200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:56878800-56880200	Active TSS	Brain Cingulate Gyrus	brain
23	chr19:56878800-56880400	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr19:56878800-56880600	Active TSS	H1 Cell Line	embryonic stem cell
25	chr19:56878800-56880600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr19:56878800-56880600	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr19:56878800-56880800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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