Variant report

Variant	rs10993185
Chromosome Location	chr9:97159948-97159949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10821343	0.87[AMR][1000 genomes]
rs10821344	1.00[AMR][1000 genomes]
rs10821349	1.00[AMR][1000 genomes]
rs10821350	1.00[AMR][1000 genomes]
rs10821351	1.00[AMR][1000 genomes]
rs10993190	0.93[EUR][1000 genomes]
rs10993195	0.87[AMR][1000 genomes]
rs10993200	1.00[AMR][1000 genomes]
rs10993202	1.00[AMR][1000 genomes]
rs10993208	1.00[AMR][1000 genomes]
rs10993209	1.00[AMR][1000 genomes]
rs10993212	1.00[AMR][1000 genomes]
rs12335794	1.00[AMR][1000 genomes]
rs12335976	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12344077	1.00[AMR][1000 genomes]
rs12352497	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13292835	1.00[AMR][1000 genomes]
rs17351644	0.87[AMR][1000 genomes]
rs34117319	0.87[AMR][1000 genomes]
rs7026123	0.86[AMR][1000 genomes]
rs7027819	0.84[EUR][1000 genomes]
rs7048293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71263779	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7467208	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7863750	1.00[AMR][1000 genomes]
rs7867289	1.00[AMR][1000 genomes]
rs7874524	0.83[AMR][1000 genomes]
rs9886806	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv982324	chr9:97139062-97200156	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97138200-97162400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr9:97138800-97168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr9:97148800-97165400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr9:97150000-97166200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:97150200-97160000	Weak transcription	K562	blood
6	chr9:97151400-97175600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr9:97153000-97164000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:97153800-97182200	Weak transcription	NHEK	skin
9	chr9:97157000-97166400	Weak transcription	A549	lung
10	chr9:97157600-97165600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:97157800-97161200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr9:97158000-97203200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:97158200-97160600	Weak transcription	Fetal Stomach	stomach
14	chr9:97159200-97160000	Weak transcription	Dnd41	blood
15	chr9:97159400-97160000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr9:97159600-97160000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr9:97159600-97160000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr9:97159600-97160200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr9:97159600-97160200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:97159600-97160200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr9:97159600-97160200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
22	chr9:97159600-97160200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr9:97159600-97160200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr9:97159600-97160200	Enhancers	GM12878-XiMat	blood
25	chr9:97159600-97160200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr9:97159600-97160400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr9:97159600-97160800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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