Variant report

Variant	rs7119928
Chromosome Location	chr11:59193419-59193420
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	RFX5	chr11:59193172-59193422	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:59191985..59194660-chr11:59317769..59320610,2	K562	blood:

Variant related genes	Relation type
OR5A2	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10736699	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10750922	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10896974	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11229957	0.87[EUR][1000 genomes]
rs11229958	0.87[EUR][1000 genomes]
rs11602535	0.81[EUR][1000 genomes]
rs11605552	0.92[EUR][1000 genomes]
rs12787182	0.81[EUR][1000 genomes]
rs1453541	0.93[EUR][1000 genomes]
rs1453542	0.87[EUR][1000 genomes]
rs1453548	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17584022	0.81[EUR][1000 genomes]
rs1901855	0.93[EUR][1000 genomes]
rs1901856	0.87[EUR][1000 genomes]
rs2867731	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2867748	0.91[EUR][1000 genomes]
rs4939291	0.87[EUR][1000 genomes]
rs6591536	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120797	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941591	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7943953	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7947471	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7952071	0.87[EUR][1000 genomes]
rs896877	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896878	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9665874	0.91[EUR][1000 genomes]
rs9988851	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1046084	chr11:59034871-59314519	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1047952	chr11:59124719-59221606	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59191600-59194600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:59192200-59193600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr11:59192400-59193600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr11:59192400-59194000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:59192400-59194800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr11:59192600-59193600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:59192600-59193600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr11:59192600-59193600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr11:59192800-59193600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:59192800-59194600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:59192800-59194800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr11:59193000-59193800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:59193000-59193800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:59193000-59194200	Enhancers	Brain Germinal Matrix	brain
15	chr11:59193000-59194800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:59193200-59194000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:59193200-59194400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:59193200-59194600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:59193200-59195600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:59193400-59195000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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