Variant report

Variant	rs548832074
Chromosome Location	chr1:161693797-161693798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:161693514-161693934	PFSK-1	brain:	n/a	n/a
2	REST	chr1:161693549-161693841	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr1:161693522-161693815	SK-N-SH	brain:	n/a	n/a
4	REST	chr1:161693502-161693888	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr1:161693484-161693861	SK-N-SH	brain:	n/a	n/a
6	REST	chr1:161693331-161693971	MCF-7	breast:	n/a	n/a
7	REST	chr1:161693472-161694007	HCT-116	colon:	n/a	n/a
8	REST	chr1:161693500-161693913	HL-60	blood:	n/a	n/a
9	REST	chr1:161693305-161694051	ECC-1	luminal epithelium:	n/a	n/a
10	REST	chr1:161693467-161693954	HL-60	blood:	n/a	n/a
11	FOXA1	chr1:161693578-161693888	T-47D	breast:	n/a	n/a
12	REST	chr1:161693500-161693858	K562	blood:	n/a	n/a
13	REST	chr1:161693624-161693813	K562	blood:	n/a	n/a
14	REST	chr1:161693522-161693824	Hela-S3	cervix:	n/a	n/a
15	TEAD4	chr1:161693510-161693956	A549	lung:	n/a	n/a
16	GATA3	chr1:161693574-161693980	T-47D	breast:	n/a	n/a
17	REST	chr1:161693310-161693927	HCT-116	colon:	n/a	n/a
18	REST	chr1:161693627-161693840	PANC-1	pancreas:	n/a	n/a
19	REST	chr1:161693296-161694130	MCF-7	breast:	n/a	n/a
20	REST	chr1:161693543-161693870	Hela-S3	cervix:	n/a	n/a
21	REST	chr1:161693458-161693839	PFSK-1	brain:	n/a	n/a
22	GATA3	chr1:161693557-161693996	T-47D	breast:	n/a	n/a
23	REST	chr1:161693407-161694041	ECC-1	luminal epithelium:	n/a	n/a

No data

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:30 , 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	chr1:161692200-161694800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:161692200-161695400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:161692200-161695400	Weak transcription	A549	lung
6	chr1:161692200-161695600	Enhancers	K562	blood
7	chr1:161692400-161695000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:161692400-161695400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:161692400-161695400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:161692400-161695400	Weak transcription	HUVEC	blood vessel
11	chr1:161692400-161695400	Weak transcription	NH-A	brain
12	chr1:161692400-161695600	Weak transcription	Gastric	stomach
13	chr1:161692600-161693800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:161692600-161694600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:161692600-161694600	Weak transcription	Osteobl	bone
16	chr1:161692600-161694800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:161692600-161694800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:161692600-161694800	Weak transcription	GM12878-XiMat	blood
19	chr1:161692600-161695000	Weak transcription	Spleen	Spleen
20	chr1:161692600-161695400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:161692600-161695400	Weak transcription	NHLF	lung
22	chr1:161692600-161695600	Weak transcription	HSMMtube	muscle
23	chr1:161692800-161693800	Weak transcription	NHDF-Ad	bronchial
24	chr1:161692800-161695200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:161693200-161694600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:161693400-161693800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:161693400-161693800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:161693400-161693800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:161693600-161694000	Enhancers	HMEC	breast
30	chr1:161693600-161694000	Enhancers	NHEK	skin

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