Variant report

Variant	rs148437348
Chromosome Location	chr5:179639584-179639585
allele	A/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	chr5:179639379-179639718	H1-hESC	embryonic stem cell:	n/a	chr5:179639597-179639605 chr5:179639541-179639554 chr5:179639514-179639527 chr5:179639526-179639539 chr5:179639550-179639559
2	MXI1	chr5:179639511-179640461	SK-N-SH	brain:	n/a	n/a
3	REST	chr5:179639408-179639619	K562	blood:	n/a	chr5:179639597-179639605 chr5:179639541-179639554 chr5:179639514-179639527 chr5:179639526-179639539 chr5:179639550-179639559
4	REST	chr5:179639378-179639711	H1-hESC	embryonic stem cell:	n/a	chr5:179639597-179639605 chr5:179639541-179639554 chr5:179639514-179639527 chr5:179639526-179639539 chr5:179639550-179639559
5	REST	chr5:179639431-179639652	Hela-S3	cervix:	n/a	chr5:179639597-179639605 chr5:179639541-179639554 chr5:179639514-179639527 chr5:179639526-179639539 chr5:179639550-179639559

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179633062..179635561-chr5:179636902..179639752,2	MCF-7	breast:
2	chr5:179638635..179640906-chr5:179719445..179721732,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGEF1C-1	chr5:179639411-179639638	expReg_chr5_10974_-

Variant related genes	Relation type
RASGEF1C	TF binding region
ENSG00000248367	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
2	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
4	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv883289	chr5:179597647-179639885	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3339444	chr5:179638546-179643144	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3353801	chr5:179639246-179642644	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3381775	chr5:179639346-179642344	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179635800-179640000	Weak transcription	Brain Angular Gyrus	brain
2	chr5:179635800-179640600	Weak transcription	Fetal Kidney	kidney
3	chr5:179636400-179639800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:179636600-179639600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:179636600-179639600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:179636600-179639600	Enhancers	K562	blood
7	chr5:179636600-179639800	Weak transcription	Pancreas	Pancrea
8	chr5:179636600-179640000	Weak transcription	Fetal Brain Male	brain
9	chr5:179636600-179640400	Weak transcription	Fetal Heart	heart
10	chr5:179636800-179640400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:179638200-179640600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:179638800-179640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:179639200-179640000	Enhancers	Fetal Intestine Small	intestine
14	chr5:179639200-179640400	Bivalent Enhancer	Fetal Stomach	stomach
15	chr5:179639400-179639600	Bivalent Enhancer	Colonic Mucosa	Colon
16	chr5:179639400-179639600	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr5:179639400-179640000	Enhancers	Right Ventricle	heart
18	chr5:179639400-179640200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:179639400-179640600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:179639400-179640600	Enhancers	Colon Smooth Muscle	Colon
21	chr5:179639400-179640600	Enhancers	Rectal Smooth Muscle	rectum

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