Variant report

Variant	rs74130289
Chromosome Location	chr10:49689621-49689622
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	chr10:49689511-49689832	PANC-1	pancreas:	n/a	chr10:49689640-49689653 chr10:49689637-49689657 chr10:49689643-49689657
2	REST	chr10:49689495-49689769	SK-N-SH	brain:	n/a	chr10:49689640-49689653 chr10:49689637-49689657 chr10:49689643-49689657
3	REST	chr10:49689558-49689797	HL-60	blood:	n/a	chr10:49689640-49689653 chr10:49689637-49689657 chr10:49689643-49689657
4	REST	chr10:49689489-49689750	MCF-7	breast:	n/a	chr10:49689640-49689653 chr10:49689637-49689657 chr10:49689643-49689657
5	REST	chr10:49689395-49689862	HL-60	blood:	n/a	chr10:49689640-49689653 chr10:49689637-49689657 chr10:49689643-49689657
6	REST	chr10:49689464-49689677	Hela-S3	cervix:	n/a	chr10:49689640-49689653 chr10:49689637-49689657 chr10:49689643-49689657
7	TEAD4	chr10:49688768-49689638	K562	blood:	n/a	n/a
8	HCFC1	chr10:49689560-49689654	K562	blood:	n/a	n/a
9	REST	chr10:49689475-49689856	Hela-S3	cervix:	n/a	chr10:49689640-49689653 chr10:49689637-49689657 chr10:49689643-49689657
10	REST	chr10:49689455-49689719	H1-hESC	embryonic stem cell:	n/a	chr10:49689640-49689653 chr10:49689637-49689657 chr10:49689643-49689657
11	REST	chr10:49689520-49689710	K562	blood:	n/a	chr10:49689640-49689653 chr10:49689637-49689657 chr10:49689643-49689657
12	REST	chr10:49689562-49689665	GM12878	blood:	n/a	chr10:49689640-49689653 chr10:49689637-49689657 chr10:49689643-49689657
13	REST	chr10:49689522-49689788	PFSK-1	brain:	n/a	chr10:49689640-49689653 chr10:49689637-49689657 chr10:49689643-49689657
14	REST	chr10:49689444-49689874	ECC-1	luminal epithelium:	n/a	chr10:49689640-49689653 chr10:49689637-49689657 chr10:49689643-49689657
15	REST	chr10:49689508-49689799	H1-hESC	embryonic stem cell:	n/a	chr10:49689640-49689653 chr10:49689637-49689657 chr10:49689643-49689657
16	REST	chr10:49689565-49689671	GM12878	blood:	n/a	chr10:49689640-49689653 chr10:49689637-49689657 chr10:49689643-49689657
17	IRF1	chr10:49688945-49689669	K562	blood:	n/a	n/a
18	REST	chr10:49689319-49689811	K562	blood:	n/a	chr10:49689640-49689653 chr10:49689637-49689657 chr10:49689643-49689657

Variant related genes	Relation type
ARHGAP22	TF binding region

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17010537	1.00[EUR][1000 genomes]
rs56177940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58232058	1.00[EUR][1000 genomes]
rs73296239	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73296268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73303091	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49679200-49690400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:49679800-49704200	Weak transcription	NH-A	brain
3	chr10:49679800-49704200	Weak transcription	NHDF-Ad	bronchial
4	chr10:49684800-49690600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr10:49684800-49693000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr10:49685600-49701000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:49685800-49692000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr10:49685800-49692600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr10:49685800-49694800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:49685800-49704800	Weak transcription	HUVEC	blood vessel
11	chr10:49686400-49690200	Enhancers	Primary hematopoietic stem cells	blood
12	chr10:49687000-49704400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:49687400-49694800	Weak transcription	HSMM	muscle
14	chr10:49687600-49703800	Weak transcription	HSMMtube	muscle
15	chr10:49687800-49699200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:49688600-49689800	Enhancers	Fetal Intestine Large	intestine
17	chr10:49688600-49690800	Flanking Active TSS	K562	blood
18	chr10:49688600-49693800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:49688800-49699400	Weak transcription	Osteobl	bone
20	chr10:49689000-49690400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr10:49689200-49698200	Weak transcription	NHLF	lung
22	chr10:49689200-49701400	Weak transcription	Right Atrium	heart
23	chr10:49689400-49690600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr10:49689400-49691000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:49689400-49692800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr10:49689400-49694400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:49689400-49695400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:49689400-49699000	Weak transcription	Brain Hippocampus Middle	brain
29	chr10:49689400-49701000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:49689600-49692200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:49689600-49695200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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