Variant report

Variant	rs73123091
Chromosome Location	chr7:63387706-63387707
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	CTCF	chr7:63387683-63387711	MCF-7	breast:	n/a	n/a
2	MXI1	chr7:63384040-63387855	SK-N-SH	brain:	n/a	n/a
3	REST	chr7:63387030-63387781	MCF-7	breast:	n/a	chr7:63387408-63387422 chr7:63387403-63387421 chr7:63387402-63387422 chr7:63387402-63387409 chr7:63387402-63387422 chr7:63387402-63387422
4	POLR2A	chr7:63387648-63387760	MCF-7	breast:	n/a	n/a
5	NRF1	chr7:63385762-63387773	SK-N-SH	brain:	n/a	n/a
6	NR2F2	chr7:63387179-63387714	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000227910	TF binding region
SLC25A1P3	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10227601	0.88[EUR][1000 genomes]
rs10238234	0.87[EUR][1000 genomes]
rs10245110	0.87[EUR][1000 genomes]
rs11978874	0.87[EUR][1000 genomes]
rs17138355	0.87[EUR][1000 genomes]
rs17138416	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17840380	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2033829	0.87[EUR][1000 genomes]
rs3751565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4717940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55723393	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56149388	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56229596	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56249171	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56310951	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56378232	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56381247	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56696237	0.87[EUR][1000 genomes]
rs6460102	0.88[EUR][1000 genomes]
rs66487504	0.88[EUR][1000 genomes]
rs73123042	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73123044	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73123067	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123069	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73123071	0.82[ASN][1000 genomes]
rs73123077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73127180	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888255	chr7:63175168-63990100	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv888257	chr7:63226279-63464342	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv888258	chr7:63294907-63537173	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv534361	chr7:63328472-63955286	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv888259	chr7:63363001-64009193	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	esv3365963	chr7:63367092-63587809	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	esv3496812	chr7:63367459-63649196	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	esv3496813	chr7:63367459-63649196	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv3336155	chr7:63368772-63650552	Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv966816	chr7:63376622-63390937	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv464514	chr7:63383123-63847894	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
12	nsv607304	chr7:63383123-63847894	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63385400-63387800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:63385400-63387800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:63385400-63388000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
4	chr7:63385600-63387800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:63385600-63387800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr7:63385600-63387800	ZNF genes & repeats	Fetal Stomach	stomach
7	chr7:63385600-63387800	Active TSS	Rectal Smooth Muscle	rectum
8	chr7:63385600-63388000	ZNF genes & repeats	Fetal Thymus	thymus
9	chr7:63386000-63387800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:63386400-63387800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:63386400-63388000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr7:63386400-63388800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr7:63386600-63388400	ZNF genes & repeats	Fetal Brain Female	brain
14	chr7:63386600-63391000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr7:63386800-63388400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:63387200-63387800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:63387200-63387800	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr7:63387200-63387800	Flanking Active TSS	Liver	Liver
19	chr7:63387200-63387800	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr7:63387200-63387800	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr7:63387200-63387800	Flanking Active TSS	Pancreas	Pancrea
22	chr7:63387200-63387800	Bivalent Enhancer	Right Ventricle	heart
23	chr7:63387200-63387800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr7:63387200-63388000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:63387200-63388000	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr7:63387200-63388000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr7:63387200-63388400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:63387200-63388400	Flanking Active TSS	Dnd41	blood
29	chr7:63387400-63387800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr7:63387400-63387800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr7:63387400-63387800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr7:63387400-63387800	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr7:63387400-63387800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr7:63387400-63387800	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr7:63387400-63387800	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr7:63387400-63387800	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr7:63387400-63387800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr7:63387400-63387800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr7:63387400-63388000	ZNF genes & repeats	Placenta	Placenta
40	chr7:63387400-63388600	Enhancers	Spleen	Spleen
41	chr7:63387600-63387800	Enhancers	Primary hematopoietic stem cells	blood
42	chr7:63387600-63387800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr7:63387600-63387800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr7:63387600-63387800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr7:63387600-63387800	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr7:63387600-63387800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:63387600-63387800	Enhancers	Esophagus	oesophagus
48	chr7:63387600-63387800	Flanking Active TSS	Lung	lung
49	chr7:63387600-63387800	Enhancers	Ovary	ovary
50	chr7:63387600-63387800	Flanking Active TSS	Psoas Muscle	Psoas

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