Variant report

Variant	rs73501253
Chromosome Location	chr9:104240978-104240979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:104236917..104238965-chr9:104238999..104241326,2	K562	blood:
2	chr9:104224910..104226777-chr9:104240738..104243531,2	K562	blood:
3	chr9:104239622..104242586-chr9:104248313..104251248,3	K562	blood:
4	chr9:104228846..104231278-chr9:104239828..104242361,2	K562	blood:

Variant related genes	Relation type
ENSG00000165152	Chromatin interaction
ENSG00000225376	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73501259	0.87[AFR][1000 genomes]
rs73501261	0.83[AFR][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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104212000-104241400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:104227800-104242800	Weak transcription	K562	blood
3	chr9:104227800-104248200	Weak transcription	Liver	Liver
4	chr9:104229000-104248200	Weak transcription	NHLF	lung
5	chr9:104230800-104248200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:104231000-104248000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:104232200-104241000	Weak transcription	HSMM	muscle
8	chr9:104234400-104248200	Weak transcription	Fetal Kidney	kidney
9	chr9:104235000-104241800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:104238800-104246400	Weak transcription	Fetal Brain Male	brain
11	chr9:104239000-104241400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:104239000-104242200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:104239000-104244200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:104239000-104247800	Weak transcription	A549	lung
15	chr9:104239200-104241000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:104239200-104241000	Weak transcription	Brain Angular Gyrus	brain
17	chr9:104239200-104241400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr9:104239200-104241400	Weak transcription	Brain Anterior Caudate	brain
19	chr9:104239200-104243000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr9:104239200-104244600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr9:104239200-104247800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:104239200-104247800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr9:104239200-104247800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr9:104239200-104247800	Weak transcription	Fetal Lung	lung
25	chr9:104239200-104247800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr9:104239200-104248000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:104239200-104248000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr9:104239200-104248200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:104239200-104248200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr9:104239400-104241000	Weak transcription	Brain Hippocampus Middle	brain
31	chr9:104239400-104241400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:104239400-104241400	Weak transcription	Lung	lung
33	chr9:104239400-104241600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr9:104239400-104241800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr9:104239400-104241800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr9:104239400-104243600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr9:104239400-104245000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:104239400-104247800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr9:104239400-104247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:104239400-104247800	Weak transcription	Fetal Stomach	stomach
41	chr9:104239400-104248000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:104239400-104248000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:104239400-104248000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:104239400-104248000	Weak transcription	Brain Germinal Matrix	brain
45	chr9:104239600-104241400	Enhancers	NHEK	skin
46	chr9:104239600-104244400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:104239800-104241800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr9:104239800-104242200	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr9:104239800-104244600	Enhancers	Stomach Mucosa	stomach
50	chr9:104240000-104241000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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