Variant report

Variant	rs2488280
Chromosome Location	chr10:43477393-43477394
allele	C/G
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	EP300	chr10:43475897-43478281	SK-N-SH	brain:	n/a	n/a
2	EP300	chr10:43476532-43477685	SK-N-SH_RA	brain:	n/a	n/a
3	GATA1	chr10:43476687-43477887	K562	blood:	n/a	chr10:43476963-43476973 chr10:43477139-43477146 chr10:43477139-43477146 chr10:43477118-43477126 chr10:43476964-43476973 chr10:43477139-43477149 chr10:43477139-43477146 chr10:43476962-43476974
4	RAD21	chr10:43476639-43477665	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr10:43476568-43477666	SK-N-SH_RA	brain:	n/a	n/a
6	GATA3	chr10:43476664-43477427	SK-N-SH	brain:	n/a	chr10:43476963-43476973 chr10:43477139-43477146 chr10:43477139-43477146 chr10:43477118-43477126 chr10:43476964-43476973 chr10:43477139-43477149 chr10:43477139-43477146 chr10:43476962-43476974
7	GATA3	chr10:43476721-43477552	SK-N-SH	brain:	n/a	chr10:43476963-43476973 chr10:43477139-43477146 chr10:43477139-43477146 chr10:43477118-43477126 chr10:43476964-43476973 chr10:43477139-43477149 chr10:43477139-43477146 chr10:43476962-43476974
8	RAD21	chr10:43476680-43477515	SK-N-SH_RA	brain:	n/a	n/a
9	MXI1	chr10:43473914-43477894	SK-N-SH	brain:	n/a	chr10:43475312-43475327 chr10:43475310-43475325
10	TCF12	chr10:43476639-43477535	SK-N-SH	brain:	n/a	chr10:43477448-43477458
11	REST	chr10:43476690-43477653	SK-N-SH	brain:	n/a	chr10:43477030-43477050
12	GATA2	chr10:43476504-43477595	SH-SY5Y	brain:	n/a	chr10:43476963-43476973 chr10:43477139-43477146 chr10:43477139-43477146 chr10:43477118-43477126 chr10:43476964-43476973 chr10:43477139-43477149 chr10:43477139-43477146 chr10:43476962-43476974

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43477135..43480872-chr10:43482623..43485089,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229630	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1109750	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11239865	0.81[ASN][1000 genomes]
rs1254987	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1254988	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1268630	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1891450	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1991573	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2082106	0.83[ASN][1000 genomes]
rs2115816	0.81[ASN][1000 genomes]
rs2256432	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2488279	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2488282	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2565191	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2995399	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3026698	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3097565	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3097566	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3123715	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3128737	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3128740	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs731732	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
8	nsv1038102	chr10:43441601-43642908	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv1054655	chr10:43450288-43479935	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1041825	chr10:43450288-43487986	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv895077	chr10:43452436-43506861	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
12	nsv466880	chr10:43452436-43616751	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
13	nsv550695	chr10:43452436-43616751	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1047289	chr10:43454528-43487986	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv947895	chr10:43458614-43488164	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1036259	chr10:43467297-43520245	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
17	nsv895078	chr10:43467392-43524522	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
18	nsv895079	chr10:43471575-43506861	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
19	nsv895080	chr10:43471575-43558757	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
20	nsv895081	chr10:43474694-43506861	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43475400-43477600	Enhancers	Gastric	stomach
2	chr10:43475600-43477800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr10:43476000-43479000	Enhancers	Fetal Intestine Small	intestine
4	chr10:43476200-43482600	Weak transcription	Spleen	Spleen
5	chr10:43476400-43479800	Enhancers	Fetal Intestine Large	intestine
6	chr10:43476600-43477800	Enhancers	Stomach Mucosa	stomach
7	chr10:43476800-43477400	Enhancers	Left Ventricle	heart
8	chr10:43477200-43477600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:43477200-43477600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:43477200-43477600	Enhancers	Esophagus	oesophagus
11	chr10:43477200-43478000	Enhancers	Duodenum Mucosa	Duodenum

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