Variant report

Variant	rs10992154
Chromosome Location	chr9:94656057-94656058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94648383..94653410-chr9:94654559..94658437,6	K562	blood:
2	chr9:94654512..94657434-chr9:94657669..94659838,4	K562	blood:

Variant related genes	Relation type
ENSG00000169071	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10116351	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10116962	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4744112	0.83[CHB][hapmap]
rs4744114	0.83[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479379	0.86[ASN][1000 genomes]
rs7858435	0.83[CEU][hapmap];0.87[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7867567	0.86[ASN][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	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
2	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
3	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94646600-94658200	Weak transcription	Fetal Heart	heart
2	chr9:94648800-94658400	Weak transcription	Pancreas	Pancrea
3	chr9:94648800-94661000	Weak transcription	Spleen	Spleen
4	chr9:94649400-94663200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:94649800-94658400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:94650000-94662400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr9:94651200-94659200	Enhancers	Colon Smooth Muscle	Colon
8	chr9:94651200-94665000	Weak transcription	NHLF	lung
9	chr9:94651600-94656400	Weak transcription	K562	blood
10	chr9:94651600-94660800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:94651800-94659200	Enhancers	Stomach Smooth Muscle	stomach
12	chr9:94652000-94656200	Weak transcription	Right Atrium	heart
13	chr9:94652000-94658000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:94652000-94659200	Weak transcription	Colonic Mucosa	Colon
15	chr9:94652000-94661000	Weak transcription	Lung	lung
16	chr9:94652600-94656200	Weak transcription	Fetal Intestine Small	intestine
17	chr9:94652600-94658200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr9:94652600-94658400	Weak transcription	Fetal Intestine Large	intestine
19	chr9:94653200-94656400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:94653200-94656800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr9:94653600-94657000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:94654000-94657000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr9:94654000-94661200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:94654600-94658400	Weak transcription	Ovary	ovary
25	chr9:94655400-94656800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr9:94655600-94656600	Enhancers	Placenta	Placenta
27	chr9:94655600-94657000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:94655600-94659200	Weak transcription	Fetal Thymus	thymus
29	chr9:94655600-94661000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:94655800-94656800	Enhancers	Fetal Stomach	stomach
31	chr9:94655800-94657200	Enhancers	Rectal Smooth Muscle	rectum
32	chr9:94656000-94656200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:94656000-94657600	Enhancers	Fetal Lung	lung

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