Variant report

Variant	rs11140465
Chromosome Location	chr9:72437830-72437831
allele	G/T
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	SETDB1	chr9:72437467-72438310	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:72437772..72439423-chr9:72448142..72450322,2	K562	blood:
2	chr9:72437046..72439093-chr9:72448277..72451553,3	K562	blood:
3	chr9:72436123..72439031-chr9:72442805..72445416,2	K562	blood:

Variant related genes	Relation type
C9orf135-AS1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10868078	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11140320	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11140367	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11140440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13291820	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17085936	0.88[JPT][hapmap]
rs34323568	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34607127	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35531946	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4439190	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4487844	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4498618	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62569924	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62569926	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831611	chr9:72361905-72512134	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72436000-72438000	Enhancers	Primary T cells from cord blood	blood
2	chr9:72436000-72438400	Weak transcription	K562	blood
3	chr9:72436200-72438000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:72436200-72440800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr9:72436200-72441200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr9:72436400-72438000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:72436400-72438400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr9:72436400-72438600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr9:72436400-72439400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:72436600-72439400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr9:72436600-72442400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:72437200-72440600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:72437400-72438000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:72437400-72438400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:72437400-72439200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr9:72437400-72439200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr9:72437400-72439400	Weak transcription	Fetal Lung	lung
18	chr9:72437400-72439600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr9:72437400-72440800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:72437400-72444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:72437600-72439200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:72437600-72439200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:72437600-72440400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr9:72437800-72439200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr9:72437800-72439200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr9:72437800-72439200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr9:72437800-72440600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:72437800-72442600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr9:72437800-72443000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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