Variant report

Variant	rs73927847
Chromosome Location	chr2:46722013-46722014
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	NFYB	chr2:46721899-46722220	GM12878	blood:	n/a	n/a
2	USF1	chr2:46721872-46722228	K562	blood:	n/a	n/a
3	USF1	chr2:46721911-46722099	H1-hESC	embryonic stem cell:	n/a	n/a
4	NFYB	chr2:46721831-46722182	K562	blood:	n/a	n/a
5	USF1	chr2:46721888-46722111	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46721452..46724242-chr2:46727690..46730244,3	MCF-7	breast:
2	chr2:46721184..46729524-chr2:46766976..46775977,14	K562	blood:

Variant related genes	Relation type
ENSG00000253515	TF binding region
ENSG00000119729	Chromatin interaction
ENSG00000250565	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs55775849	0.86[AFR][1000 genomes]
rs55939277	0.86[AFR][1000 genomes]
rs56290425	1.00[AFR][1000 genomes]
rs56365783	1.00[AFR][1000 genomes]
rs56678855	1.00[AFR][1000 genomes]
rs57596928	0.86[AFR][1000 genomes]
rs59253102	1.00[AFR][1000 genomes]
rs61065239	1.00[AFR][1000 genomes]
rs61169200	1.00[AFR][1000 genomes]
rs73927843	1.00[AFR][1000 genomes]
rs73927846	0.86[AFR][1000 genomes]
rs73927849	0.86[AFR][1000 genomes]
rs73927866	0.87[AFR][1000 genomes]
rs73927872	0.86[AFR][1000 genomes]
rs73927876	1.00[AFR][1000 genomes]
rs873532	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription 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	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv9702	chr2:46668106-46745740	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv817828	chr2:46670146-46739157	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv519216	chr2:46683683-46723219	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv457341	chr2:46712759-46724016	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv581748	chr2:46712759-46724016	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46718000-46722600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:46718200-46722600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:46718200-46726600	Weak transcription	Aorta	Aorta
4	chr2:46718400-46726600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:46718600-46722600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:46718600-46725600	Weak transcription	Brain Substantia Nigra	brain
7	chr2:46718600-46726600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:46718600-46726600	Weak transcription	Right Ventricle	heart
9	chr2:46718800-46722400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:46718800-46726400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:46718800-46726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:46718800-46727000	Weak transcription	Spleen	Spleen
13	chr2:46720400-46722200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:46720600-46723400	Enhancers	Fetal Brain Male	brain
15	chr2:46720800-46722600	Weak transcription	HSMM	muscle
16	chr2:46721000-46722600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:46721000-46722600	Weak transcription	NHDF-Ad	bronchial
18	chr2:46721000-46726600	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:46721200-46722600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:46721200-46726600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:46721200-46726600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:46721200-46726600	Weak transcription	Left Ventricle	heart
23	chr2:46721400-46722400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:46721400-46722600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:46721400-46722600	Weak transcription	NH-A	brain
26	chr2:46721400-46722600	Weak transcription	Osteobl	bone
27	chr2:46721400-46722800	Weak transcription	NHLF	lung
28	chr2:46721400-46724800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:46721400-46725400	Weak transcription	Hela-S3	cervix
30	chr2:46721400-46726600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:46721600-46722600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:46721600-46722600	Weak transcription	NHEK	skin
33	chr2:46721600-46724400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:46721600-46724600	Weak transcription	GM12878-XiMat	blood
35	chr2:46721600-46724800	Weak transcription	Brain Anterior Caudate	brain
36	chr2:46721800-46722200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:46721800-46722200	Weak transcription	Fetal Brain Female	brain
38	chr2:46722000-46724000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:46722000-46726600	Weak transcription	Brain Germinal Matrix	brain

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