Variant report

Variant	rs73653481
Chromosome Location	chr9:97315877-97315878
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	MAX	chr9:97315198-97316103	MCF-7	breast:	n/a	chr9:97316046-97316056 chr9:97315970-97315980
2	CTCF	chr9:97315760-97315910	GM12871	blood:	n/a	n/a
3	CTCF	chr9:97315288-97315896	MCF-7	breast:	n/a	n/a
4	MXI1	chr9:97315324-97315900	HepG2	liver:	n/a	n/a
5	POLR2A	chr9:97315363-97315964	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:97309308..97311468-chr9:97313942..97316861,2	MCF-7	breast:
2	chr9:97315606..97318346-chr9:97888439..97891401,2	MCF-7	breast:
3	chr9:97314619..97316650-chr9:97365797..97368541,2	K562	blood:

Variant related genes	Relation type
PCAT7	TF binding region
ENSG00000158169	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1015120	1.00[EUR][1000 genomes]
rs16910256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28369719	1.00[AMR][1000 genomes]
rs28369750	1.00[AMR][1000 genomes]
rs28369757	1.00[AMR][1000 genomes]
rs28369773	1.00[AMR][1000 genomes]
rs55683730	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55893861	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55940941	1.00[AMR][1000 genomes]
rs55951079	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59814151	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60667502	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73653475	1.00[EUR][1000 genomes]
rs73653476	1.00[EUR][1000 genomes]
rs73653477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73653478	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73653479	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73653480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73653482	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73653485	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73653486	1.00[EUR][1000 genomes]
rs73653488	1.00[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	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
2	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
3	esv1840205	chr9:97202200-97366400	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv893595	chr9:97268182-97330693	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv972786	chr9:97308737-97320211	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97313000-97316800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:97313200-97316600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:97313600-97316000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:97315000-97316000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:97315200-97316400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:97315200-97316400	Flanking Active TSS	Liver	Liver
7	chr9:97315200-97319200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr9:97315400-97316200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:97315400-97316400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:97315400-97318800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr9:97315600-97316000	Enhancers	A549	lung
12	chr9:97315600-97316400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:97315600-97316600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:97315600-97316600	Enhancers	Placenta	Placenta
15	chr9:97315600-97317400	Active TSS	Colonic Mucosa	Colon
16	chr9:97315600-97317600	Active TSS	Duodenum Mucosa	Duodenum
17	chr9:97315600-97317600	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr9:97315600-97319200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr9:97315800-97316000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:97315800-97316000	Weak transcription	Stomach Mucosa	stomach
21	chr9:97315800-97316000	Active TSS	Hela-S3	cervix
22	chr9:97315800-97316200	Flanking Active TSS	Gastric	stomach
23	chr9:97315800-97316200	Enhancers	K562	blood
24	chr9:97315800-97316400	Flanking Active TSS	Pancreas	Pancrea
25	chr9:97315800-97317200	Active TSS	Rectal Smooth Muscle	rectum
26	chr9:97315800-97317400	Bivalent/Poised TSS	HepG2	liver
27	chr9:97315800-97317600	Active TSS	Rectal Mucosa Donor 29	rectum

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