Variant report

Variant	rs73926531
Chromosome Location	chr2:46845219-46845220
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	CEBPB	chr2:46845066-46845287	HepG2	liver:	n/a	chr2:46845134-46845151
2	POLR2A	chr2:46843137-46845416	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr2:46842494-46845378	SK-N-SH	brain:	n/a	n/a
4	CEBPB	chr2:46845035-46845348	K562	blood:	n/a	chr2:46845134-46845151

No.	Distal block	Cell Line	Cell type
1	chr17:4612398..4613899-chr2:46843451..46845435,2	MCF-7	breast:
2	chr2:46768098..46772914-chr2:46841294..46848059,11	K562	blood:
3	chr2:46844525..46846523-chr2:46850500..46852298,2	MCF-7	breast:
4	chr2:46844343..46845232-chr3:52719605..52720531,2	NB4	blood:
5	chr2:46768338..46773881-chr2:46842376..46848059,6	K562	blood:
6	chr2:46788951..46790463-chr2:46844313..46846805,2	K562	blood:
7	chr2:46811229..46813597-chr2:46844623..46846343,2	K562	blood:

Variant related genes	Relation type
PIGF	TF binding region
ENSG00000250565	Chromatin interaction
ENSG00000119729	Chromatin interaction
ENSG00000163939	Chromatin interaction
ENSG00000141480	Chromatin interaction
ENSG00000163938	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56127212	0.83[AFR][1000 genomes]
rs60085835	1.00[AFR][1000 genomes]
rs60088761	1.00[AFR][1000 genomes]
rs73926516	0.83[AFR][1000 genomes]
rs73926519	0.83[AFR][1000 genomes]
rs73926524	0.83[AFR][1000 genomes]
rs73926525	1.00[AFR][1000 genomes]
rs73926526	0.83[AFR][1000 genomes]
rs73926527	1.00[AFR][1000 genomes]
rs73926528	0.86[AFR][1000 genomes]
rs73926530	1.00[AFR][1000 genomes]
rs73926532	1.00[AFR][1000 genomes]
rs73926533	1.00[AFR][1000 genomes]
rs73926534	0.83[AFR][1000 genomes]
rs73926535	1.00[AFR][1000 genomes]
rs73926536	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
9	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46842600-46845400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:46842600-46845600	Active TSS	Aorta	Aorta
3	chr2:46842800-46845400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:46842800-46845400	Active TSS	Right Atrium	heart
5	chr2:46843000-46845400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:46843000-46845400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr2:46843000-46845400	Active TSS	Psoas Muscle	Psoas
8	chr2:46843000-46845400	Active TSS	K562	blood
9	chr2:46843000-46845600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr2:46843000-46845600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:46843400-46845400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:46843600-46845400	Active TSS	Fetal Thymus	thymus
13	chr2:46843600-46845400	Active TSS	NH-A	brain
14	chr2:46844400-46845400	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr2:46844400-46845400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr2:46844400-46845600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:46844400-46845800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:46844600-46845400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:46844600-46845400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr2:46844600-46845400	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr2:46844600-46845400	Flanking Active TSS	Liver	Liver
22	chr2:46844600-46845400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr2:46844600-46845400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr2:46844600-46845400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr2:46844600-46845400	Flanking Active TSS	HUVEC	blood vessel
26	chr2:46844600-46845400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr2:46844600-46845600	Flanking Active TSS	HMEC	breast
28	chr2:46844600-46845800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:46844600-46845800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:46844600-46845800	Flanking Active TSS	Dnd41	blood
31	chr2:46844600-46847200	Weak transcription	Spleen	Spleen
32	chr2:46844800-46845400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr2:46844800-46845400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr2:46844800-46845400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr2:46844800-46845400	Flanking Active TSS	Hela-S3	cervix
36	chr2:46844800-46845400	Flanking Active TSS	Osteobl	bone
37	chr2:46844800-46845600	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr2:46844800-46845600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr2:46844800-46845600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr2:46844800-46845600	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr2:46844800-46845600	Flanking Active TSS	Fetal Brain Female	brain
42	chr2:46844800-46845800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:46844800-46845800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:46844800-46845800	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr2:46844800-46845800	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr2:46844800-46845800	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr2:46844800-46845800	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr2:46844800-46845800	Flanking Active TSS	A549	lung
49	chr2:46844800-46846000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr2:46844800-46847200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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