Variant report

Variant	rs329945
Chromosome Location	chr19:53068851-53068852
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	chr19:53068387-53069284	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53063695..53066005-chr19:53068578..53070383,2	K562	blood:

Variant related genes	Relation type
ZNF701	TF binding region

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

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

rs_ID	r²[population]
rs193040	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs329966	0.80[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs329967	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][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:68 , 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	chr19:53046400-53069200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:53050400-53069200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:53051600-53073200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:53058400-53072600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:53058600-53070000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:53058600-53072800	Weak transcription	Fetal Brain Male	brain
8	chr19:53058800-53070000	Weak transcription	Hela-S3	cervix
9	chr19:53059200-53073000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:53060800-53069400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:53060800-53072800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:53061000-53072600	Weak transcription	Fetal Brain Female	brain
13	chr19:53061000-53072800	Weak transcription	Brain Angular Gyrus	brain
14	chr19:53061200-53072600	Weak transcription	Fetal Heart	heart
15	chr19:53061200-53072800	Weak transcription	Brain Anterior Caudate	brain
16	chr19:53061400-53072600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:53062000-53070400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr19:53062000-53077800	ZNF genes & repeats	Liver	Liver
19	chr19:53062200-53072800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:53062400-53069800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr19:53062400-53072800	Weak transcription	Fetal Kidney	kidney
22	chr19:53062400-53073000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:53062600-53069200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
24	chr19:53063000-53072800	Weak transcription	Right Ventricle	heart
25	chr19:53063200-53069800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr19:53063200-53070000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr19:53063600-53073000	Weak transcription	HUVEC	blood vessel
28	chr19:53064000-53070400	Weak transcription	HSMMtube	muscle
29	chr19:53064000-53072800	Weak transcription	Brain Germinal Matrix	brain
30	chr19:53064200-53072200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr19:53064200-53073000	Weak transcription	Psoas Muscle	Psoas
32	chr19:53064400-53072400	Weak transcription	Osteobl	bone
33	chr19:53064800-53069800	Weak transcription	K562	blood
34	chr19:53065400-53072800	Weak transcription	Brain Hippocampus Middle	brain
35	chr19:53065400-53073000	Weak transcription	Brain Substantia Nigra	brain
36	chr19:53066400-53072800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr19:53066600-53070400	ZNF genes & repeats	Primary T cells from cord blood	blood
38	chr19:53067400-53072600	Weak transcription	Fetal Lung	lung
39	chr19:53067600-53072600	Weak transcription	Fetal Muscle Leg	muscle
40	chr19:53067600-53072800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr19:53067800-53069200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:53067800-53072800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr19:53067800-53072800	Weak transcription	HSMM	muscle
44	chr19:53068000-53069800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:53068000-53072000	Weak transcription	Dnd41	blood
46	chr19:53068000-53072600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:53068000-53072600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:53068000-53072800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr19:53068000-53072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:53068000-53073000	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links