Variant report

Variant	rs73665042
Chromosome Location	chr8:11141082-11141083
allele	C/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	MXI1	chr8:11141037-11143524	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11057391..11059241-chr8:11140154..11142116,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249316	TF binding region
MTMR9	TF binding region
ENSG00000171044	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12115113	1.00[AMR][1000 genomes]
rs12115121	1.00[AMR][1000 genomes]
rs2117617	1.00[AMR][1000 genomes]
rs4483111	1.00[AMR][1000 genomes]
rs57332847	1.00[AMR][1000 genomes]
rs58758812	1.00[AMR][1000 genomes]
rs58797482	1.00[AMR][1000 genomes]
rs59310177	1.00[AMR][1000 genomes]
rs60959401	1.00[AMR][1000 genomes]
rs61752023	1.00[AMR][1000 genomes]
rs6985292	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73663108	1.00[AMR][1000 genomes]
rs73665043	1.00[AMR][1000 genomes]
rs73665044	1.00[AMR][1000 genomes]
rs7816547	1.00[AMR][1000 genomes]
rs7833051	1.00[AMR][1000 genomes]
rs7833217	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11135600-11141200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:11137600-11141200	Weak transcription	Stomach Mucosa	stomach
3	chr8:11139600-11141200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:11140800-11141200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:11141000-11141200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:11141000-11141200	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr8:11141000-11141200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:11141000-11141200	Enhancers	Primary B cells from cord blood	blood
9	chr8:11141000-11141200	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:11141000-11141200	Enhancers	Primary T cells from cord blood	blood
11	chr8:11141000-11141200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:11141000-11141200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:11141000-11141200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr8:11141000-11141200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:11141000-11141200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr8:11141000-11141200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:11141000-11141200	Enhancers	Adipose Nuclei	Adipose
18	chr8:11141000-11141200	Enhancers	Liver	Liver
19	chr8:11141000-11141200	Enhancers	Brain Hippocampus Middle	brain
20	chr8:11141000-11141200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr8:11141000-11141200	Active TSS	Colonic Mucosa	Colon
22	chr8:11141000-11141200	Active TSS	Colon Smooth Muscle	Colon
23	chr8:11141000-11141200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr8:11141000-11141200	Active TSS	Fetal Heart	heart
25	chr8:11141000-11141200	Enhancers	Fetal Intestine Large	intestine
26	chr8:11141000-11141200	Enhancers	Fetal Intestine Small	intestine
27	chr8:11141000-11141200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr8:11141000-11141200	Enhancers	Pancreas	Pancrea
29	chr8:11141000-11141200	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr8:11141000-11141200	Active TSS	Dnd41	blood
31	chr8:11141000-11141200	Enhancers	GM12878-XiMat	blood
32	chr8:11141000-11141200	Enhancers	HMEC	breast
33	chr8:11141000-11141200	Enhancers	HSMM	muscle
34	chr8:11141000-11141200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
35	chr8:11141000-11141200	Active TSS	NHEK	skin
36	chr8:11141000-11141400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
37	chr8:11141000-11141400	Active TSS	Brain Substantia Nigra	brain
38	chr8:11141000-11141400	Active TSS	Duodenum Mucosa	Duodenum
39	chr8:11141000-11141600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr8:11141000-11141600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr8:11141000-11141600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:11141000-11141600	Active TSS	Fetal Brain Male	brain
43	chr8:11141000-11141600	Flanking Active TSS	Fetal Lung	lung
44	chr8:11141000-11141800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr8:11141000-11141800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:11141000-11141800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:11141000-11141800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr8:11141000-11142000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:11141000-11142600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr8:11141000-11143200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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