Variant report

Variant	rs10992122
Chromosome Location	chr9:94575175-94575176
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94562652..94565421-chr9:94572696..94575201,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12337520	0.85[ASN][1000 genomes]
rs12343368	0.84[ASN][1000 genomes]
rs12683458	0.86[ASN][1000 genomes]
rs28700038	0.86[ASN][1000 genomes]
rs57640589	0.88[ASN][1000 genomes]
rs58489821	0.88[ASN][1000 genomes]
rs7022147	0.88[ASN][1000 genomes]
rs7041224	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv518372	chr9:94558126-94605908	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv6614	chr9:94571349-94610085	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94562000-94575400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:94562000-94579400	Weak transcription	Gastric	stomach
3	chr9:94565400-94575200	Enhancers	Stomach Smooth Muscle	stomach
4	chr9:94567600-94575400	Weak transcription	Ovary	ovary
5	chr9:94570200-94581200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:94572000-94579200	Weak transcription	NHLF	lung
7	chr9:94572000-94579600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:94572000-94579600	Enhancers	Fetal Lung	lung
9	chr9:94572400-94587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:94573200-94575600	Weak transcription	Fetal Intestine Small	intestine
11	chr9:94573200-94576200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:94573200-94576200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:94573200-94576600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr9:94573200-94580200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:94573400-94579600	Weak transcription	Colonic Mucosa	Colon
16	chr9:94573800-94579400	Weak transcription	Spleen	Spleen
17	chr9:94574000-94575600	Weak transcription	Fetal Thymus	thymus
18	chr9:94574000-94579800	Enhancers	Fetal Stomach	stomach
19	chr9:94574200-94576200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:94574200-94576600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:94574200-94576600	Weak transcription	Right Atrium	heart
22	chr9:94574200-94578400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:94574200-94578800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:94574200-94579400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr9:94574400-94577400	Enhancers	Fetal Kidney	kidney
26	chr9:94574800-94576000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:94575000-94576200	Enhancers	Colon Smooth Muscle	Colon
28	chr9:94575000-94576200	Weak transcription	Fetal Heart	heart
29	chr9:94575000-94577400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr9:94575000-94578000	Enhancers	Rectal Smooth Muscle	rectum

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