Variant report

Variant	rs1333040
Chromosome Location	chr9:22083404-22083405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:22083098..22086682-chr9:22096423..22099338,3	MCF-7	breast:
2	chr9:21994174..21995925-chr9:22083192..22084717,2	MCF-7	breast:
3	chr9:21830900..21838533-chr9:22079723..22086252,27	MCF-7	breast:
4	chr9:22080093..22089919-chr9:22099951..22109614,29	MCF-7	breast:
5	chr9:22083172..22085420-chr9:22128888..22131861,2	MCF-7	breast:
6	chr9:22082345..22084066-chr9:22129125..22131801,2	MCF-7	breast:
7	chr9:22079850..22083849-chr9:22087242..22090618,5	MCF-7	breast:
8	chr9:22081254..22084984-chr9:22116484..22118588,4	MCF-7	breast:
9	chr9:22007076..22009631-chr9:22082239..22086299,4	MCF-7	breast:
10	chr9:22082310..22089949-chr9:22236353..22239754,11	MCF-7	breast:
11	chr9:22003045..22005596-chr9:22081928..22084835,3	MCF-7	breast:
12	chr9:22079101..22081952-chr9:22082169..22083681,2	MCF-7	breast:
13	chr9:22078947..22090885-chr9:22096375..22111093,52	MCF-7	breast:
14	chr9:21802949..21806302-chr9:22080908..22083994,4	MCF-7	breast:
15	chr1:149856003..149858329-chr9:22083070..22084686,2	MCF-7	breast:
16	chr9:21829031..21830656-chr9:22083088..22085058,2	MCF-7	breast:
17	chr9:21831674..21838507-chr9:22079741..22086703,33	MCF-7	breast:
18	chr9:22004154..22006669-chr9:22082867..22084601,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147889	Chromatin interaction
ENSG00000147883	Chromatin interaction
ENSG00000240498	Chromatin interaction
ENSG00000099810	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000266446	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10116277	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10738607	0.81[GIH][hapmap]
rs10757272	0.83[GIH][hapmap]
rs10811652	0.90[ASN][1000 genomes]
rs1333042	0.82[GIH][hapmap]
rs1412832	0.85[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs1537370	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6475606	1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9632884	0.83[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	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Intracranial aneurysm	18997786	GWAS catalog
Intracranial aneurysm	20364137	GWAS catalog

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22073600-22084600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:22079000-22084600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:22080400-22083800	Weak transcription	HSMMtube	muscle
4	chr9:22080400-22084000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr9:22080400-22084200	Weak transcription	NHDF-Ad	bronchial
6	chr9:22080400-22084400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:22080600-22083600	Weak transcription	NH-A	brain
8	chr9:22080600-22084000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:22080600-22084000	Weak transcription	NHLF	lung
10	chr9:22080600-22084400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:22080600-22089400	Weak transcription	Dnd41	blood
12	chr9:22080600-22098600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:22080800-22083800	Weak transcription	Osteobl	bone
14	chr9:22080800-22084000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:22080800-22084000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:22080800-22084400	Weak transcription	Aorta	Aorta
17	chr9:22080800-22084800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr9:22081000-22084000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:22081000-22084200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:22081000-22084400	Weak transcription	Adipose Nuclei	Adipose
21	chr9:22082400-22084000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:22083000-22084600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:22083200-22084600	Enhancers	NHEK	skin
24	chr9:22083200-22085400	Enhancers	Placenta	Placenta
25	chr9:22083200-22086000	Enhancers	Hela-S3	cervix
26	chr9:22083400-22086000	Enhancers	HMEC	breast

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