Variant report

Variant	rs538056349
Chromosome Location	chr1:161693328-161693329
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	REST	chr1:161693305-161694051	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr1:161693258-161693593	K562	blood:	n/a	chr1:161693441-161693451 chr1:161693440-161693451 chr1:161693439-161693452 chr1:161693440-161693451 chr1:161693440-161693451
3	REST	chr1:161693310-161693927	HCT-116	colon:	n/a	n/a
4	REST	chr1:161693296-161694130	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
FCRLB	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv516773	chr1:161691433-161702763	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
6	nsv464195	chr1:161693003-161702792	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	nsv548076	chr1:161693003-161702792	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161689000-161695400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:161689000-161695600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:161692200-161693400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:161692200-161694800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:161692200-161695400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:161692200-161695400	Weak transcription	A549	lung
7	chr1:161692200-161695600	Enhancers	K562	blood
8	chr1:161692400-161693400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:161692400-161693600	Weak transcription	NHEK	skin
10	chr1:161692400-161695000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:161692400-161695400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:161692400-161695400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:161692400-161695400	Weak transcription	HUVEC	blood vessel
14	chr1:161692400-161695400	Weak transcription	NH-A	brain
15	chr1:161692400-161695600	Weak transcription	Gastric	stomach
16	chr1:161692600-161693600	Weak transcription	HMEC	breast
17	chr1:161692600-161693800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:161692600-161694600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:161692600-161694600	Weak transcription	Osteobl	bone
20	chr1:161692600-161694800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:161692600-161694800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:161692600-161694800	Weak transcription	GM12878-XiMat	blood
23	chr1:161692600-161695000	Weak transcription	Spleen	Spleen
24	chr1:161692600-161695400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:161692600-161695400	Weak transcription	NHLF	lung
26	chr1:161692600-161695600	Weak transcription	HSMMtube	muscle
27	chr1:161692800-161693800	Weak transcription	NHDF-Ad	bronchial
28	chr1:161692800-161695200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:161693200-161694600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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