Variant report

Variant	rs2093503
Chromosome Location	chr9:101581001-101581002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101574618..101578718-chr9:101578881..101584261,5	K562	blood:
2	chr9:101573972..101577031-chr9:101580194..101584196,5	MCF-7	breast:
3	chr9:101567740..101569488-chr9:101580448..101582310,2	K562	blood:
4	chr9:101552665..101555032-chr9:101579639..101581833,2	K562	blood:
5	chr9:101579352..101582875-chr9:101585039..101587415,4	K562	blood:
6	chr9:101570303..101574512-chr9:101580563..101586059,9	K562	blood:
7	chr9:101569598..101571406-chr9:101580891..101583323,2	MCF-7	breast:
8	chr9:101571350..101572921-chr9:101580926..101583475,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165138	Chromatin interaction
ENSG00000119514	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10987872	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12341538	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2295924	0.88[EUR][1000 genomes]
rs2295925	0.95[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3813711	0.96[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4743284	0.91[EUR][1000 genomes]
rs6478895	0.91[EUR][1000 genomes]
rs7043234	0.89[EUR][1000 genomes]
rs7861195	0.91[EUR][1000 genomes]
rs911928	0.87[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	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv973475	chr9:101579594-101593836	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv973474	chr9:101579594-101595565	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2093503	ANKS6	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101571000-101586600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:101572400-101581200	Weak transcription	Colonic Mucosa	Colon
3	chr9:101572400-101581200	Weak transcription	Fetal Stomach	stomach
4	chr9:101572600-101585800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:101572600-101586600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr9:101572800-101581200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:101572800-101589200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:101573000-101586600	Weak transcription	Esophagus	oesophagus
9	chr9:101573000-101612800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:101573600-101581200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:101573800-101586000	Weak transcription	Fetal Intestine Large	intestine
12	chr9:101574000-101585800	Weak transcription	Primary T cells from cord blood	blood
13	chr9:101574400-101585200	Weak transcription	Stomach Mucosa	stomach
14	chr9:101575600-101581400	Weak transcription	K562	blood
15	chr9:101576000-101605000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr9:101577400-101585600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:101577800-101610600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:101578000-101596800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:101579200-101610800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:101580400-101581200	Strong transcription	Stomach Smooth Muscle	stomach
21	chr9:101580600-101582000	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr9:101580800-101581400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr9:101580800-101581600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:101580800-101581600	Genic enhancers	Rectal Mucosa Donor 31	rectum
25	chr9:101580800-101581800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:101580800-101581800	Strong transcription	Rectal Smooth Muscle	rectum
27	chr9:101581000-101581800	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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