Variant report

Variant	rs138036792
Chromosome Location	chr19:53072619-53072620
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53029127..53032188-chr19:53072538..53075129,3	K562	blood:
2	chr19:53029450..53032188-chr19:53072538..53074123,2	K562	blood:

Variant related genes	Relation type
ENSG00000198482	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv912304	chr19:53071155-53114267	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53051600-53073200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr19:53058600-53072800	Weak transcription	Fetal Brain Male	brain
3	chr19:53059200-53073000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:53060800-53072800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:53061000-53072800	Weak transcription	Brain Angular Gyrus	brain
6	chr19:53061200-53072800	Weak transcription	Brain Anterior Caudate	brain
7	chr19:53062000-53077800	ZNF genes & repeats	Liver	Liver
8	chr19:53062200-53072800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:53062400-53072800	Weak transcription	Fetal Kidney	kidney
10	chr19:53062400-53073000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr19:53063000-53072800	Weak transcription	Right Ventricle	heart
12	chr19:53063600-53073000	Weak transcription	HUVEC	blood vessel
13	chr19:53064000-53072800	Weak transcription	Brain Germinal Matrix	brain
14	chr19:53064200-53073000	Weak transcription	Psoas Muscle	Psoas
15	chr19:53065400-53072800	Weak transcription	Brain Hippocampus Middle	brain
16	chr19:53065400-53073000	Weak transcription	Brain Substantia Nigra	brain
17	chr19:53066400-53072800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:53067600-53072800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr19:53067800-53072800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:53067800-53072800	Weak transcription	HSMM	muscle
21	chr19:53068000-53072800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr19:53068000-53072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr19:53068000-53073000	Weak transcription	Ovary	ovary
24	chr19:53068600-53072800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:53068600-53072800	Weak transcription	Left Ventricle	heart
26	chr19:53068800-53072800	Enhancers	Placenta	Placenta
27	chr19:53069000-53073000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr19:53069200-53073000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr19:53069400-53072800	Weak transcription	Adipose Nuclei	Adipose
30	chr19:53070000-53072800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr19:53070200-53072800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr19:53070200-53072800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr19:53070400-53072800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:53070400-53072800	Weak transcription	Primary T cells from cord blood	blood
35	chr19:53070400-53072800	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr19:53070400-53072800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr19:53070400-53072800	Weak transcription	NHLF	lung
38	chr19:53070400-53073000	Weak transcription	Hela-S3	cervix
39	chr19:53070600-53072800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr19:53070600-53072800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr19:53070600-53073000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:53070600-53073000	Weak transcription	K562	blood
43	chr19:53071200-53073000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:53071800-53072800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:53071800-53073000	Weak transcription	Thymus	Thymus
46	chr19:53071800-53073400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:53072000-53072800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:53072200-53072800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:53072400-53072800	Enhancers	Fetal Muscle Trunk	muscle
50	chr19:53072400-53072800	Weak transcription	Monocytes-CD14+_RO01746	blood

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