Variant report

Variant	rs8101520
Chromosome Location	chr19:53069703-53069704
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	JUN	chr19:53069481-53070357	K562	blood:	n/a	n/a
2	TEAD4	chr19:53069408-53069762	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53063695..53066005-chr19:53068578..53070383,2	K562	blood:
2	chr19:53068984..53070722-chr19:53073373..53074993,2	MCF-7	breast:

Variant related genes	Relation type
ZNF701	TF binding region
ENSG00000167562	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs329947	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110577	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9676610	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv510772	chr19:53037211-53103470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv458743	chr19:53065661-53114267	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv580027	chr19:53065661-53114267	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53042000-53070400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:53051600-53073200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:53058400-53072600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:53058600-53070000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:53058600-53072800	Weak transcription	Fetal Brain Male	brain
6	chr19:53058800-53070000	Weak transcription	Hela-S3	cervix
7	chr19:53059200-53073000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:53060800-53072800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:53061000-53072600	Weak transcription	Fetal Brain Female	brain
10	chr19:53061000-53072800	Weak transcription	Brain Angular Gyrus	brain
11	chr19:53061200-53072600	Weak transcription	Fetal Heart	heart
12	chr19:53061200-53072800	Weak transcription	Brain Anterior Caudate	brain
13	chr19:53061400-53072600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:53062000-53070400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr19:53062000-53077800	ZNF genes & repeats	Liver	Liver
16	chr19:53062200-53072800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:53062400-53069800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr19:53062400-53072800	Weak transcription	Fetal Kidney	kidney
19	chr19:53062400-53073000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:53063000-53072800	Weak transcription	Right Ventricle	heart
21	chr19:53063200-53069800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:53063200-53070000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr19:53063600-53073000	Weak transcription	HUVEC	blood vessel
24	chr19:53064000-53070400	Weak transcription	HSMMtube	muscle
25	chr19:53064000-53072800	Weak transcription	Brain Germinal Matrix	brain
26	chr19:53064200-53072200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr19:53064200-53073000	Weak transcription	Psoas Muscle	Psoas
28	chr19:53064400-53072400	Weak transcription	Osteobl	bone
29	chr19:53064800-53069800	Weak transcription	K562	blood
30	chr19:53065400-53072800	Weak transcription	Brain Hippocampus Middle	brain
31	chr19:53065400-53073000	Weak transcription	Brain Substantia Nigra	brain
32	chr19:53066400-53072800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr19:53066600-53070400	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr19:53067400-53072600	Weak transcription	Fetal Lung	lung
35	chr19:53067600-53072600	Weak transcription	Fetal Muscle Leg	muscle
36	chr19:53067600-53072800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr19:53067800-53072800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr19:53067800-53072800	Weak transcription	HSMM	muscle
39	chr19:53068000-53069800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:53068000-53072000	Weak transcription	Dnd41	blood
41	chr19:53068000-53072600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:53068000-53072600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:53068000-53072800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr19:53068000-53072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr19:53068000-53073000	Weak transcription	Ovary	ovary
46	chr19:53068200-53072600	Weak transcription	Fetal Stomach	stomach
47	chr19:53068200-53072600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr19:53068400-53070600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr19:53068600-53070600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr19:53068600-53072400	Weak transcription	Fetal Muscle Trunk	muscle

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