Variant report

Variant	rs567119299
Chromosome Location	chr1:159924021-159924022
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	FOS	chr1:159923994-159924234	MCF10A-Er-Src	breast:	n/a	chr1:159924165-159924173 chr1:159924163-159924174
2	FOS	chr1:159923925-159924350	MCF10A-Er-Src	breast:	n/a	chr1:159924165-159924173 chr1:159924163-159924174
3	FOS	chr1:159923923-159924324	MCF10A-Er-Src	breast:	n/a	chr1:159924165-159924173 chr1:159924163-159924174
4	JUND	chr1:159924006-159924393	K562	blood:	n/a	chr1:159924165-159924173 chr1:159924163-159924174
5	ATF1	chr1:159923940-159924205	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:159892760..159896965-chr1:159922291..159925141,4	K562	blood:

Variant related genes	Relation type
SLAMF9	TF binding region
ENSG00000158710	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872489	chr1:159844819-159940000	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv548055	chr1:159918418-159940000	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv520773	chr1:159922959-159935569	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159916200-159930600	Weak transcription	Right Atrium	heart
2	chr1:159919800-159930400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:159922800-159924200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:159923000-159926200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:159923200-159924200	Enhancers	Stomach Mucosa	stomach
6	chr1:159923200-159924400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:159923200-159924400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:159923200-159924600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:159923400-159924400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:159923400-159926400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:159923400-159926400	Enhancers	NHEK	skin
12	chr1:159923600-159924400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:159923600-159924400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:159923600-159924400	Enhancers	HSMM	muscle
15	chr1:159923600-159924400	Enhancers	K562	blood
16	chr1:159923600-159924400	Enhancers	Osteobl	bone
17	chr1:159923600-159925400	Enhancers	HMEC	breast
18	chr1:159923600-159925600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:159923800-159924200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:159923800-159924400	Enhancers	Fetal Intestine Small	intestine
21	chr1:159924000-159924200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:159924000-159924200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:159924000-159924400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:159924000-159927800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:159924000-159928800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:159924000-159928800	Weak transcription	Esophagus	oesophagus

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