Variant report

Variant	rs1310978
Chromosome Location	chr9:97173032-97173033
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	PAX5	chr9:97172988-97173335	GM12878	blood:	n/a	n/a
2	PAX5	chr9:97173001-97173402	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
HIATL1	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1769261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2094525	1.00[AMR][1000 genomes]
rs2768639	0.85[AMR][1000 genomes]
rs2772015	1.00[AMR][1000 genomes]
rs2790413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2987202	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3118763	1.00[AMR][1000 genomes]
rs3118767	1.00[AMR][1000 genomes]
rs4578010	1.00[AMR][1000 genomes]
rs608328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6479532	1.00[AMR][1000 genomes]
rs679726	1.00[AMR][1000 genomes]
rs7045634	1.00[AMR][1000 genomes]
rs7867660	1.00[AMR][1000 genomes]
rs9409559	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9409560	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9409563	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9409569	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9409761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9409775	1.00[AMR][1000 genomes]
rs9409776	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9409782	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9409783	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9409785	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
3	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS 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
5	nsv982324	chr9:97139062-97200156	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97151400-97175600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr9:97153800-97182200	Weak transcription	NHEK	skin
3	chr9:97158000-97203200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:97160200-97182400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr9:97160200-97183400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr9:97160400-97203600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr9:97160800-97177000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:97164400-97185200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:97166400-97206400	Weak transcription	HSMMtube	muscle
10	chr9:97167800-97203600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:97168800-97175800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:97169800-97207000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:97170800-97175800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr9:97171600-97174200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr9:97171800-97178800	Weak transcription	Fetal Intestine Small	intestine
16	chr9:97172000-97175800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr9:97172000-97176000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr9:97172000-97176000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:97172000-97186000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr9:97172000-97203200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr9:97172000-97208400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr9:97172600-97204200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:97172800-97182400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:97173000-97173200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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