Variant report

Variant	rs72740635
Chromosome Location	chr9:102058632-102058633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:102056457..102058795-chr9:102061906..102063749,2	K562	blood:
2	chr9:101984200..101986719-chr9:102057208..102060495,3	K562	blood:
3	chr9:102028907..102031248-chr9:102057200..102058743,2	MCF-7	breast:
4	chr9:101995734..101997382-chr9:102056760..102059465,2	K562	blood:

Variant related genes	Relation type
ENSG00000119523	Chromatin interaction
ENSG00000106803	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10819643	0.81[ASN][1000 genomes]
rs1622127	0.82[ASN][1000 genomes]
rs162620	0.82[ASN][1000 genomes]
rs162621	0.82[ASN][1000 genomes]
rs162622	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1699415	0.82[ASN][1000 genomes]
rs398704	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs431228	0.82[ASN][1000 genomes]
rs7047384	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs723171	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893620	chr9:102029791-102194921	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72740635	KRT8P11	cis	Muscle Skeletal	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102057400-102058800	Enhancers	K562	blood
2	chr9:102057600-102059600	Enhancers	Fetal Thymus	thymus
3	chr9:102057600-102060800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:102057800-102059000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr9:102058000-102059400	Enhancers	Primary hematopoietic stem cells	blood
6	chr9:102058000-102059400	Enhancers	Fetal Brain Male	brain
7	chr9:102058200-102059000	Active TSS	Stomach Smooth Muscle	stomach
8	chr9:102058400-102058800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr9:102058400-102058800	Weak transcription	Primary B cells from cord blood	blood
10	chr9:102058400-102058800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:102058400-102059200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:102058400-102059200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr9:102058400-102059200	Active TSS	Fetal Kidney	kidney
14	chr9:102058400-102059400	Enhancers	NHLF	lung
15	chr9:102058400-102059600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr9:102058600-102058800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr9:102058600-102058800	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr9:102058600-102058800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr9:102058600-102058800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:102058600-102058800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:102058600-102058800	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr9:102058600-102058800	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr9:102058600-102058800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr9:102058600-102059000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr9:102058600-102059000	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr9:102058600-102059000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr9:102058600-102059000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:102058600-102059000	Active TSS	Fetal Intestine Large	intestine
29	chr9:102058600-102059000	Active TSS	Fetal Stomach	stomach
30	chr9:102058600-102059000	Active TSS	Psoas Muscle	Psoas
31	chr9:102058600-102059000	Active TSS	Right Atrium	heart
32	chr9:102058600-102059200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:102058600-102059200	Active TSS	Primary monocytes fromperipheralblood	blood
34	chr9:102058600-102059200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr9:102058600-102059200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:102058600-102059200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:102058600-102059200	Active TSS	Brain Angular Gyrus	brain
38	chr9:102058600-102059200	Active TSS	Brain Hippocampus Middle	brain
39	chr9:102058600-102059200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:102058600-102059200	Active TSS	Brain Substantia Nigra	brain
41	chr9:102058600-102059200	Active TSS	Duodenum Mucosa	Duodenum
42	chr9:102058600-102059200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr9:102058600-102059200	Active TSS	Fetal Brain Female	brain
44	chr9:102058600-102059200	Active TSS	Fetal Intestine Small	intestine
45	chr9:102058600-102059200	Active TSS	Fetal Lung	lung
46	chr9:102058600-102059200	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr9:102058600-102059200	Active TSS	Ovary	ovary
48	chr9:102058600-102059200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr9:102058600-102059200	Active TSS	Rectal Smooth Muscle	rectum
50	chr9:102058600-102059200	Enhancers	GM12878-XiMat	blood

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