Variant report

Variant	rs57640589
Chromosome Location	chr9:94576716-94576717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94561614..94563695-chr9:94575590..94578350,2	K562	blood:
2	chr9:94575900..94578539-chr9:94580415..94582024,2	MCF-7	breast:
3	chr9:94576028..94578598-chr9:94581934..94584307,4	K562	blood:
4	chr9:94570310..94572963-chr9:94575340..94577393,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10119449	0.86[EUR][1000 genomes]
rs10992122	0.88[ASN][1000 genomes]
rs12337520	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12337908	0.86[EUR][1000 genomes]
rs12343368	0.93[EUR][1000 genomes]
rs12343786	0.86[EUR][1000 genomes]
rs12683458	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28700038	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58489821	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7022147	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7036027	0.86[EUR][1000 genomes]
rs7041224	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9657698	0.86[EUR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94562000-94579400	Weak transcription	Gastric	stomach
2	chr9:94570200-94581200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:94572000-94579200	Weak transcription	NHLF	lung
4	chr9:94572000-94579600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:94572000-94579600	Enhancers	Fetal Lung	lung
6	chr9:94572400-94587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr9:94573200-94580200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:94573400-94579600	Weak transcription	Colonic Mucosa	Colon
9	chr9:94573800-94579400	Weak transcription	Spleen	Spleen
10	chr9:94574000-94579800	Enhancers	Fetal Stomach	stomach
11	chr9:94574200-94578400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:94574200-94578800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:94574200-94579400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr9:94574400-94577400	Enhancers	Fetal Kidney	kidney
15	chr9:94575000-94577400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr9:94575000-94578000	Enhancers	Rectal Smooth Muscle	rectum
17	chr9:94575400-94576800	Enhancers	Ovary	ovary
18	chr9:94575800-94578600	Enhancers	Fetal Intestine Large	intestine
19	chr9:94576000-94577800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr9:94576200-94576800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr9:94576200-94576800	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr9:94576200-94577200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:94576200-94577400	Enhancers	Fetal Heart	heart
24	chr9:94576200-94577400	Enhancers	Fetal Thymus	thymus
25	chr9:94576200-94578400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:94576400-94577000	Strong transcription	Fetal Intestine Small	intestine
27	chr9:94576400-94578200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:94576600-94576800	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr9:94576600-94577000	Enhancers	Duodenum Mucosa	Duodenum
30	chr9:94576600-94577200	Enhancers	Right Atrium	heart
31	chr9:94576600-94577400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr9:94576600-94577600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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