Variant report

Variant	rs79996778
Chromosome Location	chr20:23614991-23614992
allele	C/T
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	chr20:23611823-23615036	HepG2	liver:	n/a	n/a
2	POLR2A	chr20:23614494-23618787	HepG2	liver:	n/a	n/a
3	POLR2A	chr20:23611829-23619325	HepG2	liver:	n/a	n/a
4	POLR2A	chr20:23614952-23615010	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr20:23614496-23617566	HepG2	liver:	n/a	n/a
6	POLR2A	chr20:23611753-23618814	HepG2	liver:	n/a	n/a
7	POLR2A	chr20:23614757-23614994	K562	blood:	n/a	n/a
8	POLR2A	chr20:23609430-23615030	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:23610507..23612555-chr20:23613561..23616038,2	MCF-7	breast:
2	chr20:23604645..23607070-chr20:23613987..23616956,2	K562	blood:
3	chr20:23608610..23615599-chr20:23616056..23619619,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270001	TF binding region
ENSG00000101439	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv964381	chr20:23614805-23621846	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23600600-23617000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:23602000-23616800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr20:23603800-23615400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr20:23604000-23616600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr20:23604000-23616800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:23604200-23615000	Weak transcription	Brain Anterior Caudate	brain
7	chr20:23606600-23615200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr20:23606600-23617000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:23606800-23616600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr20:23607000-23615000	Weak transcription	Colon Smooth Muscle	Colon
11	chr20:23607600-23615400	Weak transcription	Fetal Kidney	kidney
12	chr20:23609600-23615000	Weak transcription	HSMMtube	muscle
13	chr20:23609800-23616800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr20:23610200-23616800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr20:23610200-23617000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr20:23610200-23617000	Weak transcription	K562	blood
17	chr20:23610400-23615400	Weak transcription	NHDF-Ad	bronchial
18	chr20:23610400-23616000	Weak transcription	Fetal Thymus	thymus
19	chr20:23610400-23616800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr20:23610400-23616800	Weak transcription	NH-A	brain
21	chr20:23610400-23618200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr20:23610600-23616800	Weak transcription	Hela-S3	cervix
23	chr20:23610800-23615200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr20:23610800-23616800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr20:23610800-23617400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr20:23611000-23615600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr20:23611000-23616000	Strong transcription	Fetal Intestine Small	intestine
28	chr20:23611200-23615000	Weak transcription	Right Atrium	heart
29	chr20:23611200-23615800	Weak transcription	GM12878-XiMat	blood
30	chr20:23611400-23615600	Weak transcription	HUVEC	blood vessel
31	chr20:23612000-23615000	Strong transcription	Brain Germinal Matrix	brain
32	chr20:23612000-23615000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
33	chr20:23612000-23615400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr20:23612000-23615600	Genic enhancers	Primary monocytes fromperipheralblood	blood
35	chr20:23612000-23615600	Strong transcription	Fetal Intestine Large	intestine
36	chr20:23612000-23617000	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr20:23612200-23615000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr20:23612200-23615000	Strong transcription	Liver	Liver
39	chr20:23612200-23615000	Strong transcription	Left Ventricle	heart
40	chr20:23612200-23615200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr20:23612200-23615200	Strong transcription	Esophagus	oesophagus
42	chr20:23612200-23615400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr20:23612200-23615400	Strong transcription	NHLF	lung
44	chr20:23612200-23615800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr20:23612200-23615800	Strong transcription	Aorta	Aorta
46	chr20:23612200-23616200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr20:23612400-23615000	Strong transcription	A549	lung
48	chr20:23612400-23615200	Genic enhancers	HepG2	liver
49	chr20:23612400-23615800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr20:23612400-23616000	Strong transcription	Fetal Stomach	stomach

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