Variant report

Variant	rs10993067
Chromosome Location	chr9:96905548-96905549
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96899589..96905668-chr9:96926948..96930471,6	MCF-7	breast:
2	chr9:96904108..96906275-chr9:96917076..96919477,3	K562	blood:
3	chr9:96905504..96908787-chr9:96918594..96920364,3	MCF-7	breast:
4	chr9:96904165..96905717-chr9:96916765..96919408,2	K562	blood:
5	chr9:96904365..96907195-chr9:96908218..96912337,3	MCF-7	breast:
6	chr9:96899016..96906502-chr9:96926750..96931118,14	MCF-7	breast:
7	chr9:96901943..96905386-chr9:96905431..96909431,4	K562	blood:

Variant related genes	Relation type
ENSG00000269946	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10821301	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2398937	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4744319	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs748054	0.96[ASN][1000 genomes]
rs959802	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96900400-96907400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr9:96901400-96905800	Enhancers	Fetal Muscle Trunk	muscle
3	chr9:96902800-96906400	Weak transcription	Pancreas	Pancrea
4	chr9:96903000-96912000	Weak transcription	HepG2	liver
5	chr9:96903200-96906200	Weak transcription	Gastric	stomach
6	chr9:96903400-96906400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:96903600-96906200	Weak transcription	Stomach Mucosa	stomach
8	chr9:96903800-96906400	Weak transcription	K562	blood
9	chr9:96903800-96909200	Weak transcription	Hela-S3	cervix
10	chr9:96903800-96910800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:96904000-96906600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:96904000-96912800	Weak transcription	NH-A	brain
13	chr9:96904000-96927200	Weak transcription	Thymus	Thymus
14	chr9:96904400-96906400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:96904400-96907800	Weak transcription	Fetal Lung	lung
16	chr9:96904400-96909000	Weak transcription	Colon Smooth Muscle	Colon
17	chr9:96904400-96912600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:96904600-96905800	Enhancers	Placenta	Placenta
19	chr9:96904600-96906200	Weak transcription	Aorta	Aorta
20	chr9:96904600-96906400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:96904600-96906400	Weak transcription	Esophagus	oesophagus
22	chr9:96904600-96906400	Weak transcription	Psoas Muscle	Psoas
23	chr9:96904600-96906600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr9:96904600-96906600	Weak transcription	Fetal Stomach	stomach
25	chr9:96904600-96906800	Weak transcription	Fetal Muscle Leg	muscle
26	chr9:96904600-96913200	Weak transcription	Adipose Nuclei	Adipose
27	chr9:96904800-96906400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:96904800-96910200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:96904800-96912000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:96904800-96912000	Weak transcription	Spleen	Spleen
31	chr9:96905000-96906600	Weak transcription	NHEK	skin
32	chr9:96905200-96905600	Enhancers	HSMMtube	muscle
33	chr9:96905400-96905600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:96905400-96906600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:96905400-96907400	Enhancers	Lung	lung

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