Variant report

Variant	rs10993694
Chromosome Location	chr9:93559029-93559030
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:93556987..93560757-chr9:93560998..93566241,6	MCF-7	breast:
2	chr9:93557495..93560173-chr9:93596413..93598052,2	MCF-7	breast:
3	chr9:93548131..93550213-chr9:93558299..93561058,2	MCF-7	breast:
4	chr9:93553805..93555797-chr9:93557563..93559338,2	MCF-7	breast:
5	chr9:93557618..93560728-chr9:93560879..93563311,3	K562	blood:

Variant related genes	Relation type
ENSG00000165025	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10821495	1.00[ASN][1000 genomes]
rs10821496	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993691	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12377987	1.00[ASN][1000 genomes]
rs12553630	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34221447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3904534	1.00[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	nsv1041278	chr9:92965701-93560454	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv893567	chr9:93519280-93609668	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv831652	chr9:93527411-93696923	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv893568	chr9:93539879-93774385	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv893569	chr9:93552550-93587089	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1038685	chr9:93556174-93685729	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv1813758	chr9:93557698-93573095	Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10993694	SYK	Cis_1M	lymphoblastoid	RTeQTL
rs10993694	FAM120A	cis	cerebellum	SCAN
rs10993694	IPPK	cis	cerebellum	SCAN
rs10993694	SYK	cis	Thyroid	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93551800-93563400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:93552000-93563400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:93556000-93563400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr9:93556200-93559200	Enhancers	Primary B cells from peripheral blood	blood
5	chr9:93556600-93559200	Flanking Active TSS	GM12878-XiMat	blood
6	chr9:93557200-93559600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr9:93557400-93559200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr9:93557600-93559200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr9:93557600-93562800	Weak transcription	Fetal Intestine Large	intestine
10	chr9:93557600-93563400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:93557600-93563400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr9:93557600-93563400	Weak transcription	Pancreas	Pancrea
13	chr9:93558200-93559200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:93558600-93559200	Enhancers	Small Intestine	intestine
15	chr9:93558800-93559200	Enhancers	Fetal Lung	lung
16	chr9:93558800-93559200	Enhancers	Fetal Thymus	thymus
17	chr9:93558800-93559200	Enhancers	Thymus	Thymus
18	chr9:93558800-93559400	Enhancers	Stomach Mucosa	stomach
19	chr9:93558800-93562800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr9:93559000-93559200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr9:93559000-93559400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr9:93559000-93559400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:93559000-93562400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:93559000-93563800	Weak transcription	Gastric	stomach

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