Variant report

Variant	rs60918845
Chromosome Location	chr21:47168280-47168281
allele	A/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	MXI1	chr21:47166882-47168974	SK-N-SH	brain:	n/a	n/a
2	FOSL2	chr21:47167613-47168355	MCF-7	breast:	n/a	chr21:47167897-47167905 chr21:47167895-47167907 chr21:47167897-47167904 chr21:47167897-47167906 chr21:47167896-47167906 chr21:47167896-47167905
3	FOSL2	chr21:47167262-47168282	SK-N-SH	brain:	n/a	chr21:47167897-47167905 chr21:47167895-47167907 chr21:47167897-47167904 chr21:47167897-47167906 chr21:47167896-47167906 chr21:47167896-47167905
4	GATA3	chr21:47167459-47168307	MCF-7	breast:	n/a	n/a
5	GATA3	chr21:47167385-47168339	MCF-7	breast:	n/a	n/a
6	ELF1	chr21:47168071-47168411	GM12878	blood:	n/a	n/a
7	PBX3	chr21:47167548-47168317	SK-N-SH	brain:	n/a	n/a
8	KAP1	chr21:47167891-47168464	U2OS	brain:	n/a	chr21:47167898-47167907 chr21:47167895-47167904
9	JUND	chr21:47167154-47168911	SK-N-SH	brain:	n/a	chr21:47167897-47167905 chr21:47167895-47167907 chr21:47167897-47167904 chr21:47167897-47167906 chr21:47167896-47167906 chr21:47167895-47167906 chr21:47167896-47167905
10	PBX3	chr21:47167557-47168296	SK-N-SH	brain:	n/a	n/a
11	ZNF263	chr21:47167268-47168768	HEK293-T-REx	kidney:	n/a	n/a
12	NFIC	chr21:47167088-47168304	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47061926..47064777-chr21:47168199..47170677,2	MCF-7	breast:

Variant related genes	Relation type
PCBP3	TF binding region
ENSG00000183570	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11908989	1.00[EUR][1000 genomes]
rs11910200	1.00[EUR][1000 genomes]
rs11910741	1.00[EUR][1000 genomes]
rs11910904	1.00[EUR][1000 genomes]
rs11911016	1.00[EUR][1000 genomes]
rs12329894	1.00[EUR][1000 genomes]
rs16978611	1.00[EUR][1000 genomes]
rs2877093	1.00[EUR][1000 genomes]
rs56248019	1.00[EUR][1000 genomes]
rs56789580	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58160661	1.00[EUR][1000 genomes]
rs58393620	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58476668	1.00[EUR][1000 genomes]
rs58614340	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59852288	1.00[EUR][1000 genomes]
rs60300060	1.00[EUR][1000 genomes]
rs60541263	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61151390	1.00[EUR][1000 genomes]
rs61265907	1.00[EUR][1000 genomes]
rs61398316	1.00[EUR][1000 genomes]
rs73376613	1.00[EUR][1000 genomes]
rs73376621	1.00[EUR][1000 genomes]
rs73376631	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376653	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376677	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376685	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376697	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378536	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378554	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378560	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378572	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378580	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378582	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378589	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378591	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378594	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73378597	1.00[EUR][1000 genomes]
rs73378599	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73380609	1.00[EUR][1000 genomes]
rs73380618	1.00[EUR][1000 genomes]
rs73380620	1.00[EUR][1000 genomes]
rs73380624	1.00[EUR][1000 genomes]
rs73380625	1.00[EUR][1000 genomes]
rs73380629	1.00[EUR][1000 genomes]
rs73380634	1.00[EUR][1000 genomes]
rs73380636	1.00[EUR][1000 genomes]
rs73380639	1.00[EUR][1000 genomes]
rs73380641	1.00[EUR][1000 genomes]
rs73380652	1.00[EUR][1000 genomes]
rs73380656	1.00[EUR][1000 genomes]
rs73380658	1.00[EUR][1000 genomes]
rs73380665	1.00[EUR][1000 genomes]
rs73380668	1.00[EUR][1000 genomes]
rs73380670	1.00[EUR][1000 genomes]
rs73380672	1.00[EUR][1000 genomes]
rs73380673	1.00[EUR][1000 genomes]
rs73380675	1.00[EUR][1000 genomes]
rs73380682	1.00[EUR][1000 genomes]
rs73380688	1.00[EUR][1000 genomes]
rs73382504	1.00[EUR][1000 genomes]
rs73382531	1.00[EUR][1000 genomes]
rs73382578	1.00[EUR][1000 genomes]
rs8127953	1.00[EUR][1000 genomes]
rs8129037	1.00[EUR][1000 genomes]
rs8133670	1.00[EUR][1000 genomes]
rs8133782	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv1063957	chr21:47090475-47168291	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
9	nsv1062702	chr21:47095762-47169369	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
10	nsv544493	chr21:47095762-47169369	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
11	esv3438685	chr21:47163624-47168822	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47158800-47169800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr21:47165000-47169000	Strong transcription	Primary T cells from cord blood	blood
3	chr21:47165800-47171000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr21:47166000-47171400	Weak transcription	Gastric	stomach
5	chr21:47166200-47174400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr21:47166200-47176800	Weak transcription	Dnd41	blood
7	chr21:47166200-47194400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr21:47167200-47168400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:47167200-47168400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:47167200-47168400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr21:47167200-47168400	Enhancers	HMEC	breast
12	chr21:47167200-47168600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr21:47167200-47168600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:47167200-47169000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr21:47167200-47169400	Enhancers	Fetal Muscle Leg	muscle
16	chr21:47167200-47169400	Strong transcription	Thymus	Thymus
17	chr21:47167400-47168400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr21:47167400-47168400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr21:47167400-47168400	Enhancers	NHEK	skin
20	chr21:47167400-47168600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr21:47167400-47168600	Enhancers	NHDF-Ad	bronchial
22	chr21:47167400-47170000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:47167600-47168400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr21:47167600-47168400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr21:47167600-47168400	Enhancers	Adipose Nuclei	Adipose
26	chr21:47167600-47168400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr21:47167600-47168400	Flanking Active TSS	HSMMtube	muscle
28	chr21:47167600-47168400	Enhancers	Osteobl	bone
29	chr21:47167600-47168600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:47167600-47168800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr21:47167600-47170200	Genic enhancers	Fetal Thymus	thymus
32	chr21:47167800-47168600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:47167800-47176200	Weak transcription	NH-A	brain
34	chr21:47168000-47168400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr21:47168000-47168400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr21:47168000-47168400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr21:47168000-47168400	Enhancers	Brain Angular Gyrus	brain
38	chr21:47168000-47168400	Enhancers	Brain Anterior Caudate	brain
39	chr21:47168000-47168400	Flanking Active TSS	HSMM	muscle
40	chr21:47168000-47168800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr21:47168000-47170600	Weak transcription	Fetal Brain Female	brain
42	chr21:47168200-47168400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr21:47168200-47168400	Enhancers	Brain Hippocampus Middle	brain
44	chr21:47168200-47168400	Enhancers	Stomach Smooth Muscle	stomach
45	chr21:47168200-47168600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:47168200-47168800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr21:47168200-47169000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
48	chr21:47168200-47169200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr21:47168200-47169800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr21:47168200-47170200	Strong transcription	Spleen	Spleen

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