Variant report

Variant	rs72743442
Chromosome Location	chr9:96061706-96061707
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96060041..96062788-chr9:96072993..96075131,2	MCF-7	breast:
2	chr9:96054205..96058755-chr9:96061052..96064429,5	MCF-7	breast:
3	chr9:96049367..96052330-chr9:96060124..96062687,2	K562	blood:
4	chr9:96061509..96064147-chr9:96212332..96213983,2	MCF-7	breast:
5	chr9:96050206..96051928-chr9:96059478..96062127,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188938	Chromatin interaction
ENSG00000165238	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10122466	0.97[ASN][1000 genomes]
rs10512233	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16909000	0.89[EUR][1000 genomes]
rs16909005	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16909016	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16936750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16936752	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1891971	0.88[ASN][1000 genomes]
rs1891972	0.88[ASN][1000 genomes]
rs1891973	0.97[ASN][1000 genomes]
rs1970622	0.97[ASN][1000 genomes]
rs4744205	0.97[ASN][1000 genomes]
rs55643343	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55692827	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55706397	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55795421	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56300939	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59491442	0.84[EUR][1000 genomes]
rs6479467	1.00[ASN][1000 genomes]
rs7029968	0.97[ASN][1000 genomes]
rs72743431	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72743433	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72743435	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72743443	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743444	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72743445	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72743446	0.84[EUR][1000 genomes]
rs72743448	0.84[EUR][1000 genomes]
rs72743449	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72743451	0.84[EUR][1000 genomes]
rs7859604	0.88[ASN][1000 genomes]
rs7859628	0.88[ASN][1000 genomes]
rs7871272	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv893582	chr9:95963114-96116937	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893583	chr9:95996573-96091688	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv893584	chr9:96002983-96116937	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72743442	NOL8	cis	Artery Tibial	GTEx

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96031400-96062800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr9:96033000-96067200	Weak transcription	Brain Angular Gyrus	brain
3	chr9:96033400-96062800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr9:96033400-96067000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr9:96033400-96077200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:96033600-96072800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:96047200-96065000	Weak transcription	Fetal Brain Male	brain
8	chr9:96051400-96067800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:96052200-96066600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:96055600-96080200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:96056400-96079800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:96056800-96067400	Weak transcription	Brain Anterior Caudate	brain
13	chr9:96058000-96062000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr9:96058000-96063200	Weak transcription	Right Atrium	heart
15	chr9:96058200-96064600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr9:96058200-96064600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr9:96059000-96063800	Enhancers	Fetal Heart	heart
18	chr9:96059400-96064200	Strong transcription	Fetal Brain Female	brain
19	chr9:96059600-96063000	Enhancers	Duodenum Mucosa	Duodenum
20	chr9:96059600-96063000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr9:96059600-96067000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr9:96059800-96062000	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr9:96059800-96064600	Strong transcription	Brain Germinal Matrix	brain
24	chr9:96060000-96062200	Enhancers	Fetal Muscle Leg	muscle
25	chr9:96060000-96063600	Genic enhancers	Rectal Mucosa Donor 31	rectum
26	chr9:96060000-96065000	Enhancers	Colonic Mucosa	Colon
27	chr9:96060000-96066200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:96060200-96061800	Flanking Active TSS	HepG2	liver
29	chr9:96060400-96063400	Genic enhancers	Fetal Intestine Small	intestine
30	chr9:96060600-96061800	Enhancers	Fetal Lung	lung
31	chr9:96060600-96062000	Genic enhancers	Pancreas	Pancrea
32	chr9:96060800-96061800	Genic enhancers	Fetal Stomach	stomach
33	chr9:96060800-96061800	Enhancers	A549	lung
34	chr9:96060800-96062000	Enhancers	Placenta	Placenta
35	chr9:96060800-96062200	Enhancers	Psoas Muscle	Psoas
36	chr9:96060800-96063400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr9:96061000-96061800	Enhancers	Right Ventricle	heart
38	chr9:96061000-96062000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr9:96061000-96065800	Weak transcription	Colon Smooth Muscle	Colon
40	chr9:96061000-96072200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr9:96061200-96062000	Enhancers	Liver	Liver
42	chr9:96061200-96062000	Enhancers	Ovary	ovary
43	chr9:96061200-96062400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr9:96061200-96067400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:96061400-96062000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr9:96061400-96062000	Genic enhancers	Stomach Smooth Muscle	stomach
47	chr9:96061400-96062000	Enhancers	Spleen	Spleen
48	chr9:96061400-96062400	Weak transcription	Stomach Mucosa	stomach
49	chr9:96061400-96064000	Weak transcription	Fetal Thymus	thymus
50	chr9:96061400-96075000	Weak transcription	Rectal Smooth Muscle	rectum

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