Variant report

Variant	rs9288087
Chromosome Location	chr2:183732037-183732038
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	CTCF	chr2:183731920-183732070	HEEpiC	esophagus:	n/a	n/a
2	RAD21	chr2:183731757-183732057	HepG2	liver:	n/a	n/a
3	TAF1	chr2:183731717-183732091	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr2:183731826-183732449	H1-neurons	neurons:	n/a	n/a
5	SIN3AK20	chr2:183731768-183732058	SK-N-SH	brain:	n/a	n/a
6	TBP	chr2:183731861-183732090	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr2:183731666-183732121	SK-N-SH	brain:	n/a	n/a
8	HMGN3	chr2:183731840-183732171	K562	blood:	n/a	n/a
9	CTCF	chr2:183731900-183732050	AG04449	skin:	n/a	n/a
10	EP300	chr2:183730991-183733542	SK-N-SH	brain:	n/a	chr2:183731819-183731828 chr2:183733039-183733048
11	GATA2	chr2:183730787-183732802	SH-SY5Y	brain:	n/a	chr2:183731573-183731583 chr2:183731575-183731586 chr2:183731575-183731582 chr2:183731575-183731582 chr2:183731575-183731582 chr2:183731572-183731584
12	CTBP2	chr2:183730793-183732591	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr2:183731940-183732090	HepG2	liver:	n/a	n/a
14	CTCF	chr2:183731900-183732050	HCPEpiC	choroid plexus:	n/a	n/a
15	POLR2A	chr2:183731638-183732116	Gliobla	brain:	n/a	n/a
16	YY1	chr2:183731671-183732193	HepG2	liver:	n/a	chr2:183731824-183731835 chr2:183731821-183731835
17	POLR2A	chr2:183731651-183732476	H1-neurons	neurons:	n/a	n/a
18	HEY1	chr2:183731732-183732161	HepG2	liver:	n/a	chr2:183731823-183731838
19	JUND	chr2:183731816-183732046	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr2:183731960-183732110	HAc	cerebellar:	n/a	n/a
21	SIN3A	chr2:183730776-183732404	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr2:183731900-183732050	AG09319	gingival:	n/a	n/a

Variant related genes	Relation type
FRZB	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10177372	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10181110	0.83[ASN][1000 genomes]
rs10206992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10931042	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12693328	0.82[ASN][1000 genomes]
rs2242070	0.88[EUR][1000 genomes]
rs28796879	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs288327	0.84[ASN][1000 genomes]
rs3768842	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6433993	0.82[ASN][1000 genomes]
rs6753522	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs974908	0.83[ASN][1000 genomes]
rs9973853	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1006265	chr2:183666013-183777604	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv536071	chr2:183666013-183777604	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv875484	chr2:183702964-183747442	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9288087	FRZB	cis	Nerve Tibial	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183728200-183732400	Active TSS	Aorta	Aorta
2	chr2:183729200-183732400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:183729600-183732400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:183729800-183732400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr2:183729800-183732400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:183730000-183732200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr2:183730000-183732600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:183730000-183732800	Active TSS	Brain Angular Gyrus	brain
9	chr2:183730400-183732200	Bivalent/Poised TSS	Fetal Kidney	kidney
10	chr2:183730400-183732400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:183730400-183732400	Active TSS	Brain Hippocampus Middle	brain
12	chr2:183730600-183732200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr2:183730600-183732200	Active TSS	NHDF-Ad	bronchial
14	chr2:183730600-183732400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:183730600-183732400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:183730600-183732400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:183730600-183732400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:183730800-183732200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:183730800-183732200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:183730800-183732200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:183730800-183732200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr2:183730800-183732200	Flanking Active TSS	Placenta	Placenta
23	chr2:183730800-183732200	Enhancers	Lung	lung
24	chr2:183730800-183732400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:183730800-183732400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr2:183730800-183732400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:183730800-183732400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
28	chr2:183730800-183732400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:183730800-183732400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:183730800-183732400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr2:183730800-183732400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:183730800-183732400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:183730800-183732400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:183730800-183732400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
35	chr2:183730800-183732400	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr2:183730800-183732600	Active TSS	Brain Substantia Nigra	brain
37	chr2:183730800-183732600	Active TSS	Rectal Smooth Muscle	rectum
38	chr2:183731000-183732200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:183731000-183732200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:183731000-183732200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:183731000-183732200	Flanking Bivalent TSS/Enh	NHEK	skin
42	chr2:183731000-183732400	Bivalent/Poised TSS	Primary B cells from cord blood	blood
43	chr2:183731000-183732400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:183731200-183732200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:183731200-183732200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr2:183731200-183732200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:183731200-183732200	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr2:183731200-183732200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:183731200-183732200	Flanking Active TSS	Liver	Liver
50	chr2:183731200-183732200	Active TSS	Brain Inferior Temporal Lobe	brain

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