Variant report

Variant	rs7123836
Chromosome Location	chr11:107995903-107995904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:107995538-107996262	HepG2	liver:	n/a	n/a
2	GATA1	chr11:107995618-107996271	PBDE	blood:	n/a	n/a
3	TAL1	chr11:107995862-107996046	K562	blood:	n/a	n/a
4	E2F4	chr11:107995891-107996044	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:107994261..107996818-chr11:108366959..108369938,2	K562	blood:
2	chr11:107878521..107880141-chr11:107993368..107996095,2	MCF-7	breast:
3	chr11:107990918..107994188-chr11:107994628..107998431,6	K562	blood:
4	chr11:107990918..107994596-chr11:107994628..107998415,6	K562	blood:
5	chr11:107995883..108000006-chr11:108001500..108005772,6	K562	blood:
6	chr11:107993563..107996338-chr11:108068395..108070955,2	K562	blood:
7	chr11:107994334..107996206-chr11:108091930..108093752,2	K562	blood:
8	chr11:107991962..107993559-chr11:107994451..107997054,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255467	TF binding region
ENSG00000075239	Chromatin interaction
ENSG00000178202	Chromatin interaction
ENSG00000149308	Chromatin interaction
ENSG00000166266	Chromatin interaction
ENSG00000149311	Chromatin interaction
ENSG00000255467	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10749914	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10789654	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10789655	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10890814	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10890815	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10890816	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10890817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11212524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12361905	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12807544	0.92[CEU][hapmap];0.88[CHB][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1550608	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2356518	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4550189	0.96[CEU][hapmap];0.88[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59688896	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7102368	0.91[ASN][1000 genomes]
rs7117111	0.85[JPT][hapmap]
rs7128286	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7926222	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9666209	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9734846	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	45 gene(s)	inside rSNPs	diseases
2	esv3372573	chr11:107880365-108022895	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1039549	chr11:107950572-108034548	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1040522	chr11:107969357-108049672	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7123836	ACAT1	cis	Thyroid	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107993000-108002600	Weak transcription	Placenta	Placenta
2	chr11:107993200-107996200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:107993200-107998800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:107993200-108002800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:107993200-108013200	Weak transcription	Fetal Thymus	thymus
6	chr11:107993200-108018600	Weak transcription	Thymus	Thymus
7	chr11:107993200-108021800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:107993200-108030000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:107993200-108069600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:107993400-107996000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:107993400-107996200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr11:107993400-107998600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:107993400-108004000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:107993400-108004200	Weak transcription	Primary T cells from cord blood	blood
15	chr11:107993400-108006000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:107993400-108009600	Weak transcription	Colonic Mucosa	Colon
17	chr11:107993400-108011200	Weak transcription	Esophagus	oesophagus
18	chr11:107993400-108012600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:107993400-108013200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:107993400-108014000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:107993400-108017800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:107993600-107996000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr11:107993600-107996000	Enhancers	Brain Cingulate Gyrus	brain
24	chr11:107993600-107996800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:107993600-107996800	Weak transcription	Fetal Stomach	stomach
26	chr11:107993600-107997000	Weak transcription	NHEK	skin
27	chr11:107993600-107998400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:107993600-107998600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:107993600-108004000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:107993600-108004600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:107993600-108005800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:107993600-108005800	Weak transcription	NH-A	brain
33	chr11:107993600-108006600	Weak transcription	HMEC	breast
34	chr11:107993600-108006800	Weak transcription	HSMMtube	muscle
35	chr11:107993600-108013200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:107993600-108018800	Weak transcription	Fetal Kidney	kidney
37	chr11:107993800-107997400	Enhancers	Fetal Heart	heart
38	chr11:107993800-107998200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:107993800-108010800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:107994000-107996000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr11:107994000-107997000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:107994000-108029600	Weak transcription	Fetal Brain Male	brain
43	chr11:107994200-107996400	Enhancers	Duodenum Mucosa	Duodenum
44	chr11:107994200-108005800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:107994400-108003800	Weak transcription	Fetal Intestine Large	intestine
46	chr11:107994600-107996200	Flanking Active TSS	Liver	Liver
47	chr11:107994600-107996200	Enhancers	Pancreas	Pancrea
48	chr11:107994600-107996200	Enhancers	Right Atrium	heart
49	chr11:107994600-108002800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:107994600-108009400	Weak transcription	Fetal Brain Female	brain

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