Variant report

Variant	rs68067101
Chromosome Location	chr9:104248063-104248064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:104246363..104248786-chr9:104290917..104293044,2	K562	blood:
2	chr9:104230694..104236463-chr9:104246967..104249431,5	K562	blood:
3	chr9:104159029..104163428-chr9:104247830..104250587,4	K562	blood:

Variant related genes	Relation type
ENSG00000136897	Chromatin interaction
ENSG00000225376	Chromatin interaction
ENSG00000136870	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1113384	0.80[ASN][1000 genomes]
rs1124148	0.81[ASN][1000 genomes]
rs12683273	0.81[ASN][1000 genomes]
rs12684621	0.81[ASN][1000 genomes]
rs12684773	0.81[ASN][1000 genomes]
rs12685862	0.81[ASN][1000 genomes]
rs1407868	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16920438	0.81[ASN][1000 genomes]
rs16920439	0.99[ASN][1000 genomes]
rs16920447	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1929484	0.81[ASN][1000 genomes]
rs2150737	0.81[ASN][1000 genomes]
rs4097641	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4743465	0.81[ASN][1000 genomes]
rs56357103	0.99[ASN][1000 genomes]
rs56682764	0.99[ASN][1000 genomes]
rs57053192	0.80[ASN][1000 genomes]
rs62575809	0.99[ASN][1000 genomes]
rs68114463	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72743378	0.90[AFR][1000 genomes]
rs72743387	0.81[ASN][1000 genomes]
rs72743393	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72743397	0.81[ASN][1000 genomes]
rs7867496	0.81[ASN][1000 genomes]
rs7873168	0.81[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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104227800-104248200	Weak transcription	Liver	Liver
2	chr9:104229000-104248200	Weak transcription	NHLF	lung
3	chr9:104230800-104248200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:104234400-104248200	Weak transcription	Fetal Kidney	kidney
5	chr9:104239200-104248200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:104239200-104248200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:104241000-104248200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:104241800-104248200	Weak transcription	Aorta	Aorta
9	chr9:104242200-104248200	Weak transcription	Gastric	stomach
10	chr9:104242200-104248200	Weak transcription	Psoas Muscle	Psoas
11	chr9:104243000-104248200	Weak transcription	Brain Substantia Nigra	brain
12	chr9:104243800-104248200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:104243800-104248200	Weak transcription	Esophagus	oesophagus
14	chr9:104244400-104248200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:104244800-104248200	Weak transcription	Left Ventricle	heart
16	chr9:104244800-104248200	Weak transcription	Pancreas	Pancrea
17	chr9:104245400-104248200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr9:104247000-104248200	Weak transcription	Small Intestine	intestine
19	chr9:104247600-104249600	Active TSS	K562	blood
20	chr9:104247600-104250000	Active TSS	Brain Angular Gyrus	brain
21	chr9:104247600-104250200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:104247800-104248200	Active TSS	H1 Cell Line	embryonic stem cell
23	chr9:104247800-104248200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr9:104247800-104248200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:104247800-104248200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr9:104247800-104248200	Flanking Active TSS	Fetal Brain Female	brain
27	chr9:104247800-104248200	Active TSS	Fetal Stomach	stomach
28	chr9:104247800-104248200	Active TSS	Stomach Smooth Muscle	stomach
29	chr9:104247800-104248200	Flanking Active TSS	A549	lung
30	chr9:104247800-104248400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr9:104247800-104248400	Flanking Active TSS	Fetal Brain Male	brain
32	chr9:104247800-104248400	Flanking Active TSS	Fetal Heart	heart
33	chr9:104247800-104248600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:104247800-104249000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr9:104247800-104249200	Active TSS	Colonic Mucosa	Colon
36	chr9:104247800-104249600	Active TSS	Colon Smooth Muscle	Colon
37	chr9:104247800-104249600	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr9:104247800-104249800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr9:104247800-104249800	Active TSS	Right Atrium	heart
40	chr9:104247800-104250000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:104247800-104250000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr9:104248000-104248200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
43	chr9:104248000-104248200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:104248000-104248200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:104248000-104248200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:104248000-104248200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:104248000-104248200	Active TSS	Brain Germinal Matrix	brain
48	chr9:104248000-104248200	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr9:104248000-104248200	Enhancers	NH-A	brain
50	chr9:104248000-104248400	Flanking Active TSS	Adipose Nuclei	Adipose

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