Variant report

Variant	rs10993479
Chromosome Location	chr9:97909530-97909531
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97902538..97905427-chr9:97908285..97910723,2	K562	blood:

Variant related genes	Relation type
ENSG00000251884	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10283758	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10993475	0.89[EUR][1000 genomes]
rs10993483	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10993503	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12337959	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12338907	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12342782	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12344626	0.84[EUR][1000 genomes]
rs12350646	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12352586	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12377946	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17679141	0.85[EUR][1000 genomes]
rs1886992	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1889241	0.89[EUR][1000 genomes]
rs28626189	0.86[EUR][1000 genomes]
rs28658564	0.81[AMR][1000 genomes]
rs4237226	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4647372	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4647373	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4647401	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4647404	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4647421	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4647432	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4647441	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4743990	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4744443	0.85[EUR][1000 genomes]
rs4744444	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4744445	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4744453	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56134407	0.86[AMR][1000 genomes]
rs62560523	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7357617	0.87[AMR][1000 genomes]
rs879559	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1038523	chr9:97797032-97923774	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
3	nsv540175	chr9:97797032-97923774	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
4	nsv831656	chr9:97831551-97989980	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97887400-97916400	Weak transcription	Thymus	Thymus
2	chr9:97890000-97919600	Weak transcription	Hela-S3	cervix
3	chr9:97890000-97928000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:97893800-97912600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:97893800-97918800	Weak transcription	Gastric	stomach
6	chr9:97893800-97940400	Weak transcription	Pancreas	Pancrea
7	chr9:97894200-97909800	Weak transcription	A549	lung
8	chr9:97894200-97925600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:97896000-97909800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:97896400-97910200	Weak transcription	Small Intestine	intestine
11	chr9:97896400-97918400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:97896400-97920000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:97897000-97910000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr9:97897200-97917400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:97897200-97919400	Weak transcription	GM12878-XiMat	blood
16	chr9:97897200-97920400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr9:97897600-97915400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr9:97900600-97919600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr9:97900800-97910600	Weak transcription	Lung	lung
20	chr9:97900800-97930800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:97901000-97919600	Weak transcription	Psoas Muscle	Psoas
22	chr9:97901200-97911200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr9:97901200-97919800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:97901600-97925000	Weak transcription	Fetal Intestine Large	intestine
25	chr9:97901800-97910000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr9:97901800-97910200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr9:97901800-97912200	Weak transcription	Primary T cells from cord blood	blood
28	chr9:97902000-97910000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:97902000-97910200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:97902000-97929800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:97905200-97911000	Weak transcription	NHEK	skin
32	chr9:97905400-97915800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:97905800-97924000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:97906400-97933000	Weak transcription	Fetal Kidney	kidney
35	chr9:97906600-97918600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr9:97906600-97950200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr9:97906800-97910200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr9:97906800-97910200	Weak transcription	NHLF	lung
39	chr9:97907200-97909800	Weak transcription	HepG2	liver
40	chr9:97907200-97909800	Weak transcription	NHDF-Ad	bronchial
41	chr9:97907200-97910000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:97907200-97910000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:97907200-97910200	Weak transcription	Ovary	ovary
44	chr9:97907200-97913400	Weak transcription	Fetal Intestine Small	intestine
45	chr9:97907200-97919800	Weak transcription	Fetal Muscle Leg	muscle
46	chr9:97907200-97920000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr9:97907400-97909800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:97907400-97910000	Weak transcription	Fetal Stomach	stomach
49	chr9:97907600-97910000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:97908000-97909800	Weak transcription	Liver	Liver

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